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
AKNAD1	254268	broad.mit.edu	37	1	109380190	109380190	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:109380190G>A	ENST00000370001.3	-	7	1786	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	AKNAD1_ENST00000369994.1_Silent_p.F506F|AKNAD1_ENST00000357393.4_Silent_p.F213F|AKNAD1_ENST00000369995.3_Silent_p.F506F	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	506										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGAGTGAAGAGAAGGTGGAGG	0.393000													8	51					0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34372504	34372504	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:34372504G>A	ENST00000297625.7	-	2	561	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	146					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CAGTCTGGATGAAGAAGTGCA	0.711000													4	8					0	0	1	0	0
RALBP1	10928	broad.mit.edu	37	18	9516934	9516934	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr18:9516934C>T	ENST00000019317.4	+	3	559	c.336C>T	c.(334-336)ttC>ttT	p.F112F	RALBP1_ENST00000383432.3_Silent_p.F112F			Q15311	RBP1_HUMAN	ralA binding protein 1	112					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						TCCATGTTTTCAAGAAGCCCA	0.383000													32	25					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38859890	38859890	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:38859890C>T	ENST00000264651.2	-	1	112	c.56G>A	c.(55-57)aGg>aAg	p.R19K		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	19	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AGCAGACACCCTGGCTGAGCT	0.637000													19	43					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139889288	139889288	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:139889288G>A	ENST00000297183.6	+	21	3956	c.3832G>A	c.(3832-3834)Gat>Aat	p.D1278N	ANKHD1_ENST00000360839.2_Missense_Mutation_p.D1278N|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D1278N	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTCTTCTTGATAAAGGAGC	0.428000													18	47					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472748	47472748	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:47472748C>T	ENST00000266581.4	-	2	504	c.38G>A	c.(37-39)gGa>gAa	p.G13E	AMIGO2_ENST00000429635.1_Missense_Mutation_p.G13E|AMIGO2_ENST00000321382.3_Missense_Mutation_p.G13E|AMIGO2_ENST00000550413.1_Missense_Mutation_p.G13E	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	13					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GACGACGGCTCCAAGCAGGGT	0.607000													20	29					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	6007285	6007285	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:6007285C>A	ENST00000399933.3	-	1	502	c.503G>T	c.(502-504)tGc>tTc	p.C168F	KIAA2026_ENST00000381461.2_Missense_Mutation_p.C168F	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	168										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CAGGCGGTAGCACGTCTCCAG	0.592000													50	30					3.68337e-26	3.99795e-26	1	1	0
ACAN	176	broad.mit.edu	37	15	89386683	89386683	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:89386683G>T	ENST00000439576.2	+	6	1229	c.855G>T	c.(853-855)caG>caT	p.Q285H	ACAN_ENST00000558207.1_Missense_Mutation_p.Q285H|ACAN_ENST00000352105.7_Missense_Mutation_p.Q285H|ACAN_ENST00000561243.1_Missense_Mutation_p.Q285H|ACAN_ENST00000559004.1_Missense_Mutation_p.Q285H	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	285					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCACGGGCCAGCTCTACCTGG	0.662000													11	6					6.40141e-05	6.59968e-05	1	1	0
P4HA1	5033	broad.mit.edu	37	10	74833573	74833573	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:74833573T>C	ENST00000412021.2	-	4	422	c.89A>G	c.(88-90)gAt>gGt	p.D30G	P4HA1_ENST00000263556.3_Missense_Mutation_p.D30G|P4HA1_ENST00000307116.2_Missense_Mutation_p.D30G|P4HA1_ENST00000440381.1_Missense_Mutation_p.D30G|P4HA1_ENST00000373008.2_Missense_Mutation_p.D30G|RP11-344N10.2_ENST00000431293.2_RNA|P4HA1_ENST00000394890.2_Missense_Mutation_p.D30G	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	30						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)	ATGGATCAAATCAGTCATCTG	0.333000													49	54					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156945840	156945840	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:156945840A>T	ENST00000257527.4	-	7	735	c.657T>A	c.(655-657)gaT>gaA	p.D219E	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.D221E|ADAM19_ENST00000517905.1_Missense_Mutation_p.D219E	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	219	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCTAAATAATCAGCCACGA	0.443000													91	82					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67318778	67318778	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:67318778G>A	ENST00000360461.5	+	12	4390	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E538K|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E619K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E619K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	619					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCTGGGCTCAGAGGCCATCCG	0.657000													3	12					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80228565	80228565	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:80228565G>A	ENST00000392959.1	-	3	658	c.47C>T	c.(46-48)gCa>gTa	p.A16V	LCA5_ENST00000467898.3_Missense_Mutation_p.A16V|LCA5_ENST00000369846.4_Missense_Mutation_p.A16V	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	16					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GTGTTTGCCTGCCTTTCTTTC	0.408000													73	93					0	0	1	0	0
KTI12	112970	broad.mit.edu	37	1	52498579	52498579	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:52498579C>T	ENST00000371614.1	-	1	909	c.855G>A	c.(853-855)ttG>ttA	p.L285L	TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	285							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GCGCTTCCATCAATCCGGCCA	0.622000													24	141					0	0	1	0	0
IL21	59067	broad.mit.edu	37	4	123533893	123533893	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:123533893G>A	ENST00000264497.3	-	5	518	c.461C>T	c.(460-462)tCt>tTt	p.S154F		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	147					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						GTGTGTTCTAGAGGACAGATG	0.358000													12	29					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108094622	108094622	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:108094622A>T	ENST00000357759.5	+	8	1548	c.1134A>T	c.(1132-1134)agA>agT	p.R378S	HHLA2_ENST00000489514.2_Missense_Mutation_p.R378S|HHLA2_ENST00000467761.1_Missense_Mutation_p.R378S|HHLA2_ENST00000467562.1_Missense_Mutation_p.R314S|HHLA2_ENST00000491820.1_Intron	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	378						integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						ggaggagcagacaccctgctg	0.498000													4	10					0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58792122	58792122	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:58792122G>A	ENST00000295966.7	-	14	1986	c.1483C>T	c.(1483-1485)Cgg>Tgg	p.R495W	C3orf67_ENST00000482387.1_Splice_Site_p.R621W	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	495										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GATTCTTACCGGGGATTAGAA	0.338000													6	48					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144809937	144809937	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:144809937G>T	ENST00000367545.3	+	29	4101	c.4101G>T	c.(4099-4101)agG>agT	p.R1367S		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1367	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGACTGACAGGATAGATGCTT	0.488000													6	21					0.00198382	0.00200099	1	1	0
CPSF1	29894	broad.mit.edu	37	8	145621669	145621669	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:145621669C>T	ENST00000349769.3	-	26	2967	c.2873G>A	c.(2872-2874)cGa>cAa	p.R958Q		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	958					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGAGCCCCTCGGCCGGTCAC	0.642000													4	4					0	0	1	0	0
CELA3A	10136	broad.mit.edu	37	1	22333505	22333505	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:22333505A>G	ENST00000290122.3	+	5	516	c.497A>G	c.(496-498)tAt>tGt	p.Y166C		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCCGTCTCTATAGTACGTGC	0.602000													5	52					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211192434	211192434	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:211192434G>A	ENST00000367007.4	-	6	892	c.723C>T	c.(721-723)ttC>ttT	p.F241F	KCNH1_ENST00000271751.4_Silent_p.F241F	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	241					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCCTGGTTTTGAAGGAGACAT	0.403000													13	52					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4853708	4853708	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:4853708G>A	ENST00000252318.2	+	4	1039	c.702G>A	c.(700-702)gaG>gaA	p.E234E	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	234	Catalytic subdomain A.		E -> K (in dbSNP:rs16931676).			Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACTTGGATGAGAAGATTAAGC	0.403000													20	18					0	0	1	0	0
BRI3BP	140707	broad.mit.edu	37	12	125478519	125478519	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:125478519C>T	ENST00000341446.8	+	1	274	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	61						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		GCAGCCTGTTCGGCGAGGACA	0.761000													14	4					0	0	1	0	0
ANKRA2	57763	broad.mit.edu	37	5	72858588	72858588	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:72858588G>T	ENST00000296785.3	-	2	777	c.119C>A	c.(118-120)tCa>tAa	p.S40*		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	40						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		CCCTTCTTCTGAATTTGGGTC	0.433000													46	105					1.48059e-44	1.61961e-44	1	1	0
ZNF365	22891	broad.mit.edu	37	10	64136491	64136491	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:64136491T>C	ENST00000395254.3	+	2	819	c.539T>C	c.(538-540)aTt>aCt	p.I180T	ZNF365_ENST00000395255.3_Missense_Mutation_p.I180T|ZNF365_ENST00000410046.3_Missense_Mutation_p.I180T|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAGAAGAGAATTGATAAACTC	0.468000													41	117					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40716969	40716969	+	Silent	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:40716969C>G	ENST00000298910.7	+	38	5575	c.5517C>G	c.(5515-5517)ctC>ctG	p.L1839L		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1839					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CAGGAGATCTCTTAGTAAATC	0.308000													18	58					0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34372677	34372677	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:34372677G>A	ENST00000297625.7	-	2	388	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	89					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AGCTCCGCGCGAAGTCGCTCC	0.682000													6	6					0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452306	26452306	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:26452306C>T	ENST00000244519.2	+	11	1665	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	BTN3A3_ENST00000361232.3_Silent_p.F425F|BTN3A3_ENST00000339789.4_Silent_p.F432F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	474	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						AGATCTCGTTCTATAATGCCA	0.488000													30	56					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66636334	66636334	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:66636334G>A	ENST00000393960.1	-	10	1286	c.1005C>T	c.(1003-1005)gtC>gtT	p.V335V	PC_ENST00000393955.2_Silent_p.V335V|PC_ENST00000355677.3_Silent_p.V335V|PC_ENST00000393958.2_Silent_p.V335V|PC_ENST00000524491.1_Silent_p.V295V	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	335	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)	TCTCCTCTGTGACCGTGTGCT	0.632000													10	28					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40133797	40133797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:40133797C>T	ENST00000181839.4	+	14	4362	c.3757C>T	c.(3757-3759)Cga>Tga	p.R1253*	CDK13_ENST00000340829.5_Nonsense_Mutation_p.R1193*	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1253					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGACCGGCCTCGAATTCTGCC	0.498000													28	69					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120856885	120856885	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:120856885G>A	ENST00000527524.2	+	21	3074	c.2787G>A	c.(2785-2787)caG>caA	p.Q929Q	GRIK4_ENST00000438375.2_Silent_p.Q929Q	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	929					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GCCGCTTCCAGGGCCTGCGGG	0.741000													10	7					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65179006	65179006	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr18:65179006A>G	ENST00000310045.7	-	2	4343	c.2870T>C	c.(2869-2871)cTg>cCg	p.L957P	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	947						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ATATTGGGCCAGTTTACCCCT	0.393000													32	35					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4872214	4872214	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:4872214C>T	ENST00000361571.5	-	21	3941	c.3530G>A	c.(3529-3531)cGc>cAc	p.R1177H	CAMTA2_ENST00000358183.4_Missense_Mutation_p.R1171H|CAMTA2_ENST00000414043.3_Silent_p.A1200A|CAMTA2_ENST00000572543.1_Missense_Mutation_p.R1183H|CAMTA2_ENST00000381311.5_Missense_Mutation_p.R1173H|CAMTA2_ENST00000348066.3_Missense_Mutation_p.R1178H	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1178					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GTGTCGGCAGCGCCGCAGGAA	0.562000													51	25					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129513909	129513909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:129513909C>T	ENST00000421865.2	+	12	1742	c.1693C>T	c.(1693-1695)Cag>Tag	p.Q565*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	565	Laminin IV type A 1.				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)		GGACTCACCTCAGCAGATCAG	0.567000													5	35					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33359990	33359990	+	Silent	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:33359990T>C	ENST00000404816.2	+	5	1517	c.1164T>C	c.(1162-1164)caT>caC	p.H388H	LTBP1_ENST00000404525.1_Silent_p.H62H|LTBP1_ENST00000402934.1_Silent_p.H62H|LTBP1_ENST00000407925.1_Silent_p.H62H|LTBP1_ENST00000418533.2_Silent_p.H62H|LTBP1_ENST00000390003.4_Silent_p.H62H|LTBP1_ENST00000354476.3_Silent_p.H388H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	388					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGAATGGTCATGCTGCCGACA	0.512000													9	22					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47783593	47783593	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr21:47783593A>G	ENST00000359568.5	+	14	2460	c.2353A>G	c.(2353-2355)Atc>Gtc	p.I785V	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	785	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAAACAGACCATCATAAACAA	0.488000													18	46					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138391434	138391434	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:138391434C>G	ENST00000310018.2	-	22	2740	c.2458G>C	c.(2458-2460)Ggg>Cgg	p.G820R	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G820R|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G820R	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	820			G -> R (in RTADR).		cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TAACCATCCCCGACATAGAAC	0.522000													33	70					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	56963872	56963872	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:56963872G>C	ENST00000370708.4	+	3	297	c.119G>C	c.(118-120)cGa>cCa	p.R40P	ZNF451_ENST00000491832.2_Missense_Mutation_p.R40P|ZNF451_ENST00000370702.1_Missense_Mutation_p.R40P|ZNF451_ENST00000370710.6_Missense_Mutation_p.R40P|ZNF451_ENST00000510989.1_3'UTR|ZNF451_ENST00000357489.3_Missense_Mutation_p.R40P|ZNF451_ENST00000370706.4_Missense_Mutation_p.R40P	NM_001257273.1	NP_001244202.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGACCATTACGACCTGTTCTT	0.338000													6	52					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256897	69256897	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:69256897C>G	ENST00000439696.2	-	2	671	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.E124Q|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	124					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCGTTTTCCTCAAAGGGGCGG	0.657000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	95					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48686553	48686553	+	Splice_Site	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:48686553C>A	ENST00000544264.1	-	18	6863		c.e18+1		CELSR3_ENST00000164024.4_Splice_Site			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3						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)		GGCAGTCTCACCAGCAGACTG	0.597000													4	16					0.00909568	0.00916121	1	1	0
SPRY4	81848	broad.mit.edu	37	5	141694592	141694592	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:141694592G>A	ENST00000344120.4	-	3	337	c.151C>T	c.(151-153)Cac>Tac	p.H51Y	SPRY4_ENST00000434127.2_Missense_Mutation_p.H28Y	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	28					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGGCTGTGGGACATCCGG	0.612000									Testicular Cancer, Familial Clustering of				9	26					0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159091630	159091630	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:159091630C>T	ENST00000296530.8	-	2	1519	c.898G>A	c.(898-900)Gag>Aag	p.E300K	FAM198B_ENST00000592057.1_Missense_Mutation_p.E300K|FAM198B_ENST00000393807.5_Missense_Mutation_p.E300K|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000585682.1_Missense_Mutation_p.E300K	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	300						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGGATGAACTCTGCTTTCCTG	0.473000											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	23					0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129643161	129643161	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:129643161G>A	ENST00000319119.4	+	2	1568	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	ZBTB34_ENST00000373452.2_Missense_Mutation_p.E491K	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						TTCCCGGATGGAAATTCACAC	0.448000													5	24					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67555731	67555731	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:67555731A>G	ENST00000478722.1	+	12	2297	c.1176A>G	c.(1174-1176)gtA>gtG	p.V392V	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Silent_p.V359V|GPHN_ENST00000305960.9_Silent_p.V328V|GPHN_ENST00000543237.1_Silent_p.V405V	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	359	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CTCAAGATGTATATGCAAAAG	0.408000			T	MLL	AL								6	46					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180049776	180049776	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:180049776C>T	ENST00000367607.3	+	30	6522	c.6104C>T	c.(6103-6105)tCa>tTa	p.S2035L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2035						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCAGATGAGTCATTATCTATG	0.408000											OREG0004796	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	19	43					0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800568	21800568	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr22:21800568G>A	ENST00000443632.2	+	2	1756	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	HIC2_ENST00000407464.2_Missense_Mutation_p.E462K|HIC2_ENST00000407598.2_Missense_Mutation_p.E462K			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	462					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TGCGCACGTGGAGACTCACAC	0.622000													32	28					0	0	1	0	0
SHD	56961	broad.mit.edu	37	19	4284882	4284882	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:4284882C>T	ENST00000543264.2	+	4	2160	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	SHD_ENST00000600475.1_3'UTR|SHD_ENST00000599689.1_Silent_p.L233L	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	233										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACCCAGCCCTGCCCCTGGA	0.592000													45	23					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136294	92136294	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:92136294G>A	ENST00000256343.3	-	14	1307	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	384					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GGTGCTCACAGAGGCAATGGC	0.363000													15	36					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116445438	116445438	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:116445438G>A	ENST00000281928.3	-	11	2222	c.2016C>T	c.(2014-2016)ctC>ctT	p.L672L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	672					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTTGTGCTAAGAGTCTaaaag	0.348000													9	51					0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67412329	67412329	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:67412329G>A	ENST00000255082.3	-	7	816	c.646C>T	c.(646-648)Cct>Tct	p.P216S	ACY3_ENST00000529256.1_Missense_Mutation_p.P95S	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	216					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TCAAAGGCAGGAAAGGCCGTA	0.652000													4	4					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26204205	26204205	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:26204205C>T	ENST00000264712.3	-	1	1161	c.582G>A	c.(580-582)gtG>gtA	p.V194V	KIF3C_ENST00000405914.1_Silent_p.V194V	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	194	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGTTCATCACATGCTCAA	0.567000													26	70					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65907308	65907308	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:65907308C>G	ENST00000321892.4	+	13	3747	c.3686C>G	c.(3685-3687)tCt>tGt	p.S1229C	BPTF_ENST00000424123.3_Missense_Mutation_p.S1090C|BPTF_ENST00000306378.6_Missense_Mutation_p.S1103C|BPTF_ENST00000335221.5_Missense_Mutation_p.S1229C			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1229					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAAATCTCTCTGAATCACCA	0.393000													11	17					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017451	93017451	+	Silent	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:93017451G>T	ENST00000523629.1	-	6	1087	c.633C>A	c.(631-633)ctC>ctA	p.L211L	RUNX1T1_ENST00000521553.1_Silent_p.L174L|RUNX1T1_ENST00000520724.1_Silent_p.L174L|RUNX1T1_ENST00000265814.3_Silent_p.L211L|RUNX1T1_ENST00000396218.1_Silent_p.L184L|RUNX1T1_ENST00000436581.2_Silent_p.L222L|RUNX1T1_ENST00000518844.1_Silent_p.L184L|RUNX1T1_ENST00000422361.2_Silent_p.L174L|RUNX1T1_ENST00000360348.2_Silent_p.L174L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	211	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CATGCTGGGCGAGGTACTGGG	0.577000													14	60					4.3838e-07	4.58038e-07	1	1	0
ANK3	288	broad.mit.edu	37	10	61822996	61822996	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:61822996C>T	ENST00000280772.2	-	40	12659	c.12468G>A	c.(12466-12468)tcG>tcA	p.S4156S	ANK3_ENST00000373827.2_Silent_p.S1537S|ANK3_ENST00000503366.1_Silent_p.S1544S|ANK3_ENST00000355288.2_Silent_p.S677S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)		Death.				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						TTGTCAAGACCGAAGTTAAGG	0.348000													10	24					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9475997	9475997	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:9475997C>T	ENST00000407969.1	+	3	228	c.214C>T	c.(214-216)Cct>Tct	p.P72S	SETD5_ENST00000302463.6_Intron|SETD5_ENST00000402198.1_Intron|SETD5_ENST00000406341.1_Intron|SETD5_ENST00000402466.1_Intron			Q9C0A6	SETD5_HUMAN	SET domain containing 5	59										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TCCGACACCTCCTGCTTCTCC	0.527000													5	28					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110654178	110654178	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrX:110654178G>A	ENST00000338081.3	-	1	196	c.25C>T	c.(25-27)Cat>Tat	p.H9Y	DCX_ENST00000371993.2_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000356915.2_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000496551.1_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	9					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TCAGTACAATGACTATGAAGG	0.433000													39	22					0	0	1	0	0
STARD7	56910	broad.mit.edu	37	2	96860705	96860705	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:96860705G>A	ENST00000337288.5	-	3	923	c.540C>T	c.(538-540)ttC>ttT	p.F180F	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	180	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						CCTGAACATTGAAGAACTGCC	0.413000													6	6					0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155294730	155294730	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:155294730G>A	ENST00000368352.5	+	3	1603	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	RUSC1_ENST00000368354.3_Silent_p.K484K|RUSC1_ENST00000368349.4_Silent_p.K15K|RUSC1_ENST00000368347.4_Silent_p.K74K|RUSC1_ENST00000292254.4_Silent_p.K15K|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	484						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			AGGAGCAGAAGAAAGGTAGGG	0.662000											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	68					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104742539	104742539	+	Silent	SNP	T	T	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:104742539T>G	ENST00000334877.4	+	17	2628	c.2094T>G	c.(2092-2094)ctT>ctG	p.L698L	KMT2E_ENST00000257745.4_Silent_p.L698L|KMT2E_ENST00000311117.3_Silent_p.L698L|KMT2E_ENST00000334914.7_5'UTR					lysine (K)-specific methyltransferase 2E																		ATACTGTACTTACAATAGAAC	0.368000													33	67					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37494609	37494609	+	Silent	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:37494609T>C	ENST00000379066.1	-	14	2610	c.1848A>G	c.(1846-1848)caA>caG	p.Q616Q	PRKD3_ENST00000234179.2_Silent_p.Q616Q			O94806	KPCD3_HUMAN	protein kinase D3	616	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GTTGACTTTCTTGTTTTGTGG	0.323000													47	72					0	0	1	0	0
NHLRC3	387921	broad.mit.edu	37	13	39621995	39621995	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr13:39621995G>A	ENST00000379600.3	+	7	1298	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	NHLRC3_ENST00000470258.1_Missense_Mutation_p.E129K|NHLRC3_ENST00000379599.2_Missense_Mutation_p.E259K	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	326						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CTATGTAGCAGAAATTGGAGC	0.403000													5	87					0	0	1	0	0
ZNF571	51276	broad.mit.edu	37	19	38055593	38055593	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:38055593G>A	ENST00000328550.2	-	4	1836	c.1737C>T	c.(1735-1737)atC>atT	p.I579I	ZNF571_ENST00000593133.1_Silent_p.I579I|ZNF571_ENST00000358744.3_Silent_p.I579I|ZNF571_ENST00000451802.2_Silent_p.I579I|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACCAGTATGGATCCTTTGAT	0.428000													8	124					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55529088	55529088	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:55529088G>A	ENST00000436346.1	-	27	5433	c.4592C>T	c.(4591-4593)gCc>gTc	p.A1531V	CCDC88A_ENST00000422883.2_Intron|CCDC88A_ENST00000336838.6_Missense_Mutation_p.A1530V|CCDC88A_ENST00000413716.2_Missense_Mutation_p.A1530V|CCDC88A_ENST00000263630.8_Missense_Mutation_p.A1503V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1531					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGTAGAGAAGGCCATAGCTCC	0.428000													43	79					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149509431	149509431	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:149509431C>T	ENST00000261799.4	-	10	1937	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	490	Ig-like C2-type 5.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCACCACCTCAAACTCCTGC	0.637000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	28					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28541324	28541324	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:28541324T>C	ENST00000452236.2	-	4	2959	c.2342A>G	c.(2341-2343)tAt>tGt	p.Y781C		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	781					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						atgttttgaatataaatgtcg	0.333000													12	27					0	0	1	0	0
MFSD8	256471	broad.mit.edu	37	4	128886262	128886262	+	Silent	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:128886262T>C	ENST00000296468.3	-	2	154	c.27A>G	c.(25-27)gaA>gaG	p.E9E	MFSD8_ENST00000513559.1_Intron|MFSD8_ENST00000541133.1_Intron|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	9					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GCGGCTCCTGTTCACTTTCGT	0.617000													6	39					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50803829	50803829	+	Silent	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:50803829G>C	ENST00000263046.4	+	5	850	c.684G>C	c.(682-684)ctG>ctC	p.L228L	TFAP2B_ENST00000393655.3_Silent_p.L219L			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	219					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACGGCTTCCTGGGAGGCATGT	0.468000													61	115					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27683081	27683081	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:27683081C>T	ENST00000493901.1	-	26	3763	c.3524G>A	c.(3523-3525)cGg>cAg	p.R1175Q	MAP3K6_ENST00000357582.2_Splice_Site_p.R1175Q|MAP3K6_ENST00000374040.3_Splice_Site_p.R1167Q	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1175					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGCTTTACCGATCAGTCTC	0.637000													15	11					0	0	1	0	0
LAS1L	81887	broad.mit.edu	37	X	64753527	64753527	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrX:64753527C>G	ENST00000374811.3	-	2	365	c.325G>C	c.(325-327)Gat>Cat	p.D109H	LAS1L_ENST00000374807.5_Missense_Mutation_p.D109H|LAS1L_ENST00000312391.8_Missense_Mutation_p.D109H|LAS1L_ENST00000374804.5_Intron	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	109						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTAAGTTCATCAGTGCCCAAG	0.552000													26	63					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64004988	64004988	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:64004988C>T	ENST00000443617.2	-	24	4657	c.4570G>A	c.(4570-4572)Gag>Aag	p.E1524K	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1524					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCGTAACCCTCTTCATCTGAT	0.393000													7	16					0	0	1	0	0
YWHAE	7531	broad.mit.edu	37	17	1264509	1264509	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:1264509T>C	ENST00000264335.8	-	4	722	c.455A>G	c.(454-456)tAt>tGt	p.Y152C	YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.Y130C	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide	152					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		AGCAGCTTTATAAGCCACTAG	0.438000			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						42	50					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44415322	44415322	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:44415322C>T	ENST00000372343.3	+	2	980	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	106	Importin N-terminal.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CACAGCTCTTCACCCAGATCA	0.552000													6	48					0	0	1	0	0
DXO	1797	broad.mit.edu	37	6	31939404	31939404	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:31939404C>T	ENST00000375349.3	-	2	460	c.49G>A	c.(49-51)Gag>Aag	p.E17K	DXO_ENST00000337523.5_Missense_Mutation_p.E17K|DXO_ENST00000375356.3_Missense_Mutation_p.E17K|DXO_ENST00000478221.1_Intron					decapping exoribonuclease	17																	TTCCGAGGCTCAGCTACCTCT	0.577000													9	27					0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99581012	99581012	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:99581012G>A	ENST00000481138.1	-	6	1954	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	ZNF782_ENST00000535338.1_Silent_p.F299F	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ACTTTGCACTGAAAGCTTTAT	0.433000													61	71					0	0	1	0	0
ARPC5	10092	broad.mit.edu	37	1	183599673	183599673	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:183599673G>T	ENST00000359856.6	-	3	382	c.316C>A	c.(316-318)Cta>Ata	p.L106I	ARPC5_ENST00000462965.1_5'UTR|ARPC5_ENST00000367534.1_Missense_Mutation_p.L106I|ARPC5_ENST00000294742.6_Missense_Mutation_p.L109I	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	106					actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton			cervix(1)|large_intestine(1)|lung(2)	4						TACTTCATTAGGAGATCCACA	0.388000													15	58					2.32078e-09	2.44312e-09	1	1	0
DGCR6L	85359	broad.mit.edu	37	22	20307210	20307210	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr22:20307210C>T	ENST00000248879.3	-	2	314	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	DGCR6L_ENST00000405465.3_Silent_p.P70P	NM_033257.3	NP_150282.2	Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6-like	75						nucleus				endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					AGGCTCTTTTCGGTGAGGTGC	0.677000													12	2					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169083	32169083	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:32169083C>T	ENST00000375023.3	-	22	4088	c.3950G>A	c.(3949-3951)cGg>cAg	p.R1317Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1317					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGACAGCACCCGGGCCAGGGC	0.642000													9	29					0	0	1	0	0
FITM1	161247	broad.mit.edu	37	14	24601929	24601929	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:24601929C>T	ENST00000267426.5	+	2	1065	c.776C>T	c.(775-777)gCc>gTc	p.A259V	FITM1_ENST00000559294.1_Missense_Mutation_p.A63V	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	259					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GGCACCTTTGCCTGGTACCTC	0.607000													11	44					0	0	1	0	0
RAB3A	5864	broad.mit.edu	37	19	18311166	18311166	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:18311166G>A	ENST00000222256.4	-	3	496	c.318C>T	c.(316-318)aaC>aaT	p.N106N	RAB3A_ENST00000464076.3_Silent_p.N11N	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	106					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						AGGATTCCTCGTTGGTGATGT	0.502000													35	74					0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53370196	53370196	+	Silent	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:53370196C>A	ENST00000229416.6	-	12	1872	c.1389G>T	c.(1387-1389)ctG>ctT	p.L463L	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	463					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)	TTACCTTTGACAGTGGAATGA	0.348000													15	17					1.3612e-06	1.418e-06	1	1	0
GTPBP8	29083	broad.mit.edu	37	3	112709978	112709978	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:112709978G>A	ENST00000383677.3	+	1	147	c.132G>A	c.(130-132)ctG>ctA	p.L44L	RP11-484K9.4_ENST00000609673.1_RNA|GTPBP8_ENST00000383678.2_Silent_p.L44L	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	44					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						AGCAGCAGCTGAGGAAGCTGC	0.587000													10	31					0	0	1	0	0
SPRR2D	6703	broad.mit.edu	37	1	153012818	153012818	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:153012818G>A	ENST00000368757.1	-	2	285	c.5C>T	c.(4-6)tCt>tTt	p.S2F	SPRR2D_ENST00000368758.3_Missense_Mutation_p.S2F|SPRR2D_ENST00000360379.3_Missense_Mutation_p.S2F|SPRR2D_ENST00000368756.1_Missense_Mutation_p.S2F			P22532	SPR2D_HUMAN	small proline-rich protein 2D	2					keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGTTGATAAGACATCCTGCT	0.542000													55	24					0	0	1	0	0
DNAJC9	23234	broad.mit.edu	37	10	75005770	75005770	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:75005770G>A	ENST00000372950.4	-	3	2158	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9	162					protein folding		heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					CTTGCTGAATGATATTCCTTA	0.438000													37	47					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75829125	75829125	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:75829125T>G	ENST00000322507.8	-	45	7460	c.7151A>C	c.(7150-7152)aAg>aCg	p.K2384T	COL12A1_ENST00000416123.2_Missense_Mutation_p.K2384T|COL12A1_ENST00000345356.6_Missense_Mutation_p.K1220T|COL12A1_ENST00000483888.2_Missense_Mutation_p.K2384T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2384	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGCTAGGGCCTTGTCATTGTA	0.438000													7	88					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71095032	71095032	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:71095032G>C	ENST00000283228.2	-	7	1531	c.1079C>G	c.(1078-1080)cCa>cGa	p.P360R	PTPRR_ENST00000342084.4_Missense_Mutation_p.P248R|PTPRR_ENST00000378778.1_Missense_Mutation_p.P154R|PTPRR_ENST00000440835.2_Missense_Mutation_p.P115R|PTPRR_ENST00000549308.1_Missense_Mutation_p.P115R	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	360					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CCGTGGTGTTGGTATAGACAC	0.458000													24	53					0	0	1	0	0
TMOD1	7111	broad.mit.edu	37	9	100353630	100353630	+	Missense_Mutation	SNP	G	G	A	rs77520953		TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:100353630G>A	ENST00000259365.4	+	9	1141	c.928G>A	c.(928-930)Gca>Aca	p.A310T	TMOD1_ENST00000375175.1_Missense_Mutation_p.A183T|TMOD1_ENST00000395211.2_Missense_Mutation_p.A310T	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1						muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		GGAAAAAAACGCAACACTTCT	0.418000													6	68					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56114896	56114896	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:56114896C>T	ENST00000288221.6	-	7	1845	c.1590G>A	c.(1588-1590)atG>atA	p.M530I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	530						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ACATATCTTTCATGTCACGAA	0.388000													8	39					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56572617	56572617	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:56572617C>T	ENST00000394023.3	-	13	1261	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	SMARCC2_ENST00000550164.1_Missense_Mutation_p.E386K|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.E386K|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E386K	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	386					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCCATGCTTTCATCTTCCTGT	0.473000													25	32					0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	41992739	41992739	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:41992739G>A	ENST00000264451.7	+	1	251	c.71G>A	c.(70-72)cGa>cAa	p.R24Q		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTCCGTCTGCGATGCAGGGCG	0.706000													12	14					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103835	52103835	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:52103835C>T	ENST00000361781.2	-	7	999	c.40G>A	c.(40-42)Gac>Aac	p.D14N	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.D14N	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	20	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						AGCAGCCAGTCTGCCACCTTC	0.512000													18	47					0	0	1	0	0
TSC22D4	81628	broad.mit.edu	37	7	100064708	100064708	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:100064708C>T	ENST00000300181.2	-	5	1816	c.1062G>A	c.(1060-1062)cgG>cgA	p.R354R	TSC22D4_ENST00000393991.1_Silent_p.R115R|TSC22D4_ENST00000496728.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	354	Leucine-zipper.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGCAGCGTTCCGCTCCGCCA	0.697000													22	20					0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137809665	137809665	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:137809665A>C	ENST00000371806.3	-	1	144	c.53T>G	c.(52-54)tTg>tGg	p.L18W		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	18					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		ATGCAGGAACAAGACTAGCAG	0.582000													21	28					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110460785	110460785	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:110460785C>T	ENST00000265175.5	+	24	3816	c.3761C>T	c.(3760-3762)tCt>tTt	p.S1254F	SEC24B_ENST00000504968.2_Missense_Mutation_p.S1284F|SEC24B_ENST00000399100.2_Missense_Mutation_p.S1219F	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1254					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GCTGCATTTTCTTACTATGAA	0.353000													11	52					0	0	1	0	0
CMAS	55907	broad.mit.edu	37	12	22213804	22213804	+	Silent	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:22213804T>C	ENST00000229329.2	+	5	862	c.732T>C	c.(730-732)caT>caC	p.H244H		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	244					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						GAGCTGAACATAGTGTGGATA	0.303000													36	22					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136918414	136918414	+	Silent	SNP	G	G	C	rs145784844		TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:136918414G>C	ENST00000303407.7	-	2	371	c.186C>G	c.(184-186)ccC>ccG	p.P62P	BRD3_ENST00000371834.2_Silent_p.P62P|BRD3_ENST00000357885.2_Silent_p.P62P	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	62	Bromo 1.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TTGCGTCCACGGGCTGGTAGA	0.617000			T	C15orf55	lethal midline carcinoma of young people								12	88					0	0	1	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22839618	22839618	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:22839618G>A	ENST00000376573.4	-	7	990	c.762C>T	c.(760-762)gtC>gtT	p.V254V	PIP4K2A_ENST00000545335.1_Silent_p.V195V|PIP4K2A_ENST00000323883.7_Silent_p.V114V	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	254	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TTTCCAGGAAGACCTTCTTGT	0.368000											OREG0020068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	64					0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51018830	51018830	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr22:51018830A>G	ENST00000406938.2	-	6	910	c.693T>C	c.(691-693)tcT>tcC	p.S231S	CHKB_ENST00000463053.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	231					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GCGATGGGGTAGACTCTAGTA	0.557000													91	46					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32955870	32955870	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:32955870A>G	ENST00000399302.2	+	4	3014	c.2679A>G	c.(2677-2679)tcA>tcG	p.S893S	QSER1_ENST00000527788.1_Silent_p.S654S	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	893										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TTCAGCAGTCATTAGATGTCA	0.373000													47	24					0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116849967	116849967	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:116849967C>A	ENST00000265437.5	+	13	1595	c.1381C>A	c.(1381-1383)Ctt>Att	p.L461I	ST7_ENST00000393449.1_Missense_Mutation_p.L461I|ST7_ENST00000422922.1_Missense_Mutation_p.L392I|ST7_ENST00000393451.3_Missense_Mutation_p.L438I|ST7_ENST00000323984.3_Missense_Mutation_p.L461I|ST7_ENST00000393446.2_Missense_Mutation_p.L438I|ST7_ENST00000393447.4_Missense_Mutation_p.L418I|ST7_ENST00000393443.1_Missense_Mutation_p.L388I|ST7_ENST00000432298.1_Missense_Mutation_p.L415I|ST7_ENST00000393444.3_Missense_Mutation_p.L395I	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	461						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGCTTTGAATCTTTTGCATTG	0.388000													36	48					9.84934e-19	1.05918e-18	1	1	0
C7orf43	55262	broad.mit.edu	37	7	99754136	99754136	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:99754136C>T	ENST00000316937.3	-	8	1298	c.1113G>A	c.(1111-1113)gtG>gtA	p.V371V	C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000419841.1_Silent_p.V139V|C7orf43_ENST00000457641.1_Silent_p.V102V	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	371										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGCGGTCATCACAAAACACG	0.562000													8	17					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46485285	46485285	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:46485285G>A	ENST00000361297.2	+	11	1489	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E	MAST2_ENST00000372009.2_Silent_p.E332E	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	402					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AGCGCTCAGAGAGCTCAGAAG	0.527000													9	88					0	0	1	0	0
HMGXB4	10042	broad.mit.edu	37	22	35661174	35661174	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr22:35661174G>A	ENST00000216106.5	+	5	921	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	HMGXB4_ENST00000444518.2_Missense_Mutation_p.E156K	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	265					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTGGCCCTGAAGGCTGTGG	0.512000													27	17					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80677627	80677627	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:80677627G>A	ENST00000557010.1	-	3	574	c.189C>T	c.(187-189)gtC>gtT	p.V63V	DIO2_ENST00000555750.1_Silent_p.V63V|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000422005.3_Silent_p.V63V|DIO2_ENST00000438257.4_Silent_p.V63V	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	63					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGCTCTTCCAGACGCAGCGCA	0.612000													13	20					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62131753	62131753	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:62131753C>T	ENST00000433197.3	-	15	1905	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1		Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CTAAAACACTCGGGGAGGATC	0.577000													8	7					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41583408	41583408	+	Silent	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:41583408C>A	ENST00000396942.1	-	6	566	c.483G>T	c.(481-483)gcG>gcT	p.A161A	ANK1_ENST00000347528.4_Silent_p.A161A|ANK1_ENST00000265709.8_Silent_p.A194A|ANK1_ENST00000289734.7_Silent_p.A161A|ANK1_ENST00000379758.2_Silent_p.A161A|ANK1_ENST00000352337.4_Silent_p.A161A|ANK1_ENST00000396945.1_Silent_p.A161A			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	161	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)			TGATGAGGTGCGCGACGACGT	0.662000													7	28					0.00198382	0.00200099	1	1	0
ATG4D	84971	broad.mit.edu	37	19	10662922	10662922	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:10662922G>A	ENST00000309469.4	+	9	1337	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	ATG4D_ENST00000540862.1_Silent_p.K55K	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	388					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCTTTGCCAAGATGGACCCAA	0.607000													15	70					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967788	64967788	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:64967788T>C	ENST00000399262.2	-	10	3859	c.3641A>G	c.(3640-3642)cAt>cGt	p.H1214R	JMJD1C_ENST00000399251.1_Missense_Mutation_p.H995R|JMJD1C_ENST00000542921.1_Missense_Mutation_p.H1032R|JMJD1C_ENST00000402544.1_Missense_Mutation_p.H995R	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1214					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CAGGCTGTGATGGATTGGTGG	0.438000													8	81					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149481978	149481978	+	RNA	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:149481978C>G	ENST00000378016.2	+	0	2766							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGGGGCATTCTGCCCCAGGG	0.612000													10	99					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20180731	20180731	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:20180731A>G	ENST00000400331.5	-	7	2705	c.2397T>C	c.(2395-2397)taT>taC	p.Y799Y	MACC1_ENST00000332878.4_Silent_p.Y799Y|MACC1_ENST00000589011.1_Silent_p.Y799Y	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	799					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AGTTATTTCCATAGTGAGCAC	0.378000													24	50					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68999961	68999961	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:68999961C>T	ENST00000288368.4	+	19	2307	c.2030C>T	c.(2029-2031)aCa>aTa	p.T677I	RP11-403D15.2_ENST00000526901.1_RNA|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	677	PDZ 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						TGATTTAGGACAGTGAAAATT	0.403000													53	54					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43519662	43519662	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr18:43519662G>A	ENST00000282041.5	-	10	2037	c.2003C>T	c.(2002-2004)tCa>tTa	p.S668L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	668					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGCCAATCCTGAGCCTTGGTT	0.438000													24	15					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36197602	36197602	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:36197602T>G	ENST00000258840.6	-	13	2092	c.1702A>C	c.(1702-1704)Atg>Ctg	p.M568L	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.M568L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.M568L|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.M568L	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	568					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTACAACCATGTACCGATAA	0.289000													4	22					0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51442197	51442197	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:51442197C>T	ENST00000418425.2	+	1	77	c.58C>T	c.(58-60)Cct>Tct	p.P20S	LETMD1_ENST00000547008.1_Missense_Mutation_p.P20S|LETMD1_ENST00000552739.1_Missense_Mutation_p.P20S|LETMD1_ENST00000550929.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000262055.4_Missense_Mutation_p.P20S|LETMD1_ENST00000380123.2_Missense_Mutation_p.P20S	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	20	Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GGCAGTCACCCCTGGACATTT	0.612000											OREG0021818	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	93					0	0	1	0	0
DCAF8	50717	broad.mit.edu	37	1	160210143	160210143	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:160210143G>T	ENST00000368073.3	-	4	501	c.67C>A	c.(67-69)Cca>Aca	p.P23T	DCAF8_ENST00000556710.1_Missense_Mutation_p.P177T|DCAF8_ENST00000608310.1_Missense_Mutation_p.P177T|DCAF8_ENST00000475733.1_Missense_Mutation_p.P23T|DCAF8_ENST00000368074.1_Missense_Mutation_p.P23T|DCAF8_ENST00000610139.1_Missense_Mutation_p.P23T|DCAF8_ENST00000326837.2_Missense_Mutation_p.P23T			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	23						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ATCTCCTCTGGACTGCTAGAC	0.498000													5	64					0.0215528	0.0216457	1	1	0
GRN	2896	broad.mit.edu	37	17	42428109	42428109	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:42428109G>A	ENST00000053867.3	+	7	711	c.649G>A	c.(649-651)Gat>Aat	p.D217N	GRN_ENST00000589265.1_Intron	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	217					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCGGTGCCCTGATGGTTCTAC	0.617000											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	52					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91021045	91021045	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:91021045C>T	ENST00000268182.5	+	26	3377	c.3253C>T	c.(3253-3255)Ctc>Ttc	p.L1085F	IQGAP1_ENST00000560738.1_Missense_Mutation_p.L513F	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1085	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGACAAATCTCTCAACATCAA	0.428000													30	22					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215813432	215813432	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:215813432G>A	ENST00000272895.7	-	47	7211	c.6992C>T	c.(6991-6993)tCa>tTa	p.S2331L	ABCA12_ENST00000389661.4_Missense_Mutation_p.S2013L|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2331	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCCAACTAATGAGCTGTGAGA	0.418000													17	24					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83877885	83877885	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:83877885G>A	ENST00000349129.2	+	39	7657	c.7397G>A	c.(7396-7398)tGa>tAa	p.*2466*	PGM3_ENST00000513973.1_3'UTR|PGM3_ENST00000512866.1_Intron|DOPEY1_ENST00000369739.3_Silent_p.*2477*|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Silent_p.*2370*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	0					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATAAAAACTTGAGCACCATTG	0.358000													3	22					0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45142071	45142071	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:45142071G>A	ENST00000258770.3	-	7	1317	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	TBRG4_ENST00000361278.3_Missense_Mutation_p.S289L|TBRG4_ENST00000494076.1_Missense_Mutation_p.S399L|TBRG4_ENST00000395655.4_Missense_Mutation_p.S289L	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	399					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						TGGCAGCTCTGACCCCAGCTT	0.607000													26	37					0	0	1	0	0
UBXN2B	137886	broad.mit.edu	37	8	59358548	59358548	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:59358548G>T	ENST00000399598.2	+	7	876	c.754G>T	c.(754-756)Gat>Tat	p.D252Y		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	252	UBX.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		p.D252N(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TCTTATTGATGATTCAGTGCC	0.363000													30	52					2.80507e-11	2.97986e-11	1	1	0
ZFP37	7539	broad.mit.edu	37	9	115805519	115805519	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:115805519G>C	ENST00000374227.3	-	4	1406	c.1379C>G	c.(1378-1380)cCc>cGc	p.P460R	ZFP37_ENST00000553380.1_Missense_Mutation_p.P475R|ZFP37_ENST00000555206.1_Missense_Mutation_p.P461R	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	460						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACATTCAAAGGGTTTCTCACC	0.353000													10	71					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178408586	178408586	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:178408586C>T	ENST00000448150.3	+	6	1468	c.650C>T	c.(649-651)tCa>tTa	p.S217L	RASAL2_ENST00000462775.1_Missense_Mutation_p.S87L|RASAL2_ENST00000367649.3_Missense_Mutation_p.S235L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	87	C2.				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						CTAAAAGAGTCACGTTCCCAT	0.443000													4	39					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63661479	63661479	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:63661479A>C	ENST00000279873.7	+	1	421	c.11A>C	c.(10-12)aAc>aCc	p.N4T		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	4					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ATGGAGCCCAACTCACTCCAG	0.577000													28	39					0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104157414	104157414	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:104157414A>G	ENST00000369966.3	+	8	883	c.633A>G	c.(631-633)ccA>ccG	p.P211P	NFKB2_ENST00000428099.1_Silent_p.P211P|NFKB2_ENST00000189444.6_Silent_p.P211P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	211	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CCCTGAAGCCAGTCATCTCCC	0.577000			T	IGH@	B-NHL								84	83					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84211435	84211435	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:84211435G>A	ENST00000378553.5	+	12	2290	c.2166G>A	c.(2164-2166)ccG>ccA	p.P722P	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	722					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TCCCAGCACCGAAAGCATCAT	0.517000													15	23					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130318930	130318930	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:130318930C>T	ENST00000299164.2	+	1	62	c.62C>T	c.(61-63)cCa>cTa	p.P21L		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	21					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGCTCTGAGCCAGAGCGGGAG	0.677000													9	18					0	0	1	0	0
SNCA	6622	broad.mit.edu	37	4	90756716	90756716	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:90756716C>T	ENST00000394989.2	-	2	365	c.103G>A	c.(103-105)Gag>Aag	p.E35K	SNCA_ENST00000502987.1_Missense_Mutation_p.E35K|SNCA_ENST00000505199.1_Missense_Mutation_p.E35K|SNCA_ENST00000508895.1_Missense_Mutation_p.E35K|SNCA_ENST00000506244.1_Missense_Mutation_p.E35K|SNCA_ENST00000345009.4_Missense_Mutation_p.E35K|SNCA_ENST00000420646.2_Missense_Mutation_p.E35K|SNCA_ENST00000394991.3_Missense_Mutation_p.E35K|SNCA_ENST00000394986.1_Missense_Mutation_p.E35K|SNCA_ENST00000336904.3_Missense_Mutation_p.E35K			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	35	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).				activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	AGAACACCCTCTTTTGTCTTT	0.448000													42	95					0	0	1	0	0
CAPNS2	84290	broad.mit.edu	37	16	55601052	55601052	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:55601052G>A	ENST00000457326.2	+	1	469	c.384G>A	c.(382-384)gtG>gtA	p.V128V	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	128	EF-hand 1.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GGAGCATTGTGTCTGTCATGG	0.423000													15	76					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295867	20295867	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:20295867C>T	ENST00000568211.1	+	1	260	c.260C>T	c.(259-261)tCt>tTt	p.S87F	OR4N2_ENST00000315947.1_Missense_Mutation_p.S87F			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACTTCCTCTCTGCGAAGAAG	0.522000													21	126					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33238055	33238055	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:33238055A>G	ENST00000445902.2	-	2	314	c.96T>C	c.(94-96)ggT>ggC	p.G32G	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_5'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	32					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GCCCAGGACCACCCGCCTGGA	0.483000													22	61					0	0	1	0	0
CCDC50	152137	broad.mit.edu	37	3	191078907	191078907	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:191078907A>G	ENST00000392455.3	+	4	887	c.289A>G	c.(289-291)Att>Gtt	p.I97V	CCDC50_ENST00000392456.3_Missense_Mutation_p.I97V	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	97						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GAAGCTGGCTATTGAGGCAGA	0.408000													22	32					0	0	1	0	0
GDE1	51573	broad.mit.edu	37	16	19533210	19533210	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:19533210C>T	ENST00000353258.3	-	1	257	c.77G>A	c.(76-78)cGg>cAg	p.R26Q		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	26					glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						GACCGGGCTCCGCGTCACCAG	0.682000													3	9					0	0	1	0	0
C16orf86	388284	broad.mit.edu	37	16	67702366	67702366	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:67702366G>A	ENST00000403458.4	+	4	972	c.817G>A	c.(817-819)Gag>Aag	p.E273K		NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	273										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCTGGAGAGGAGCCTGGGGG	0.642000											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	7					0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46052586	46052586	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:46052586G>A	ENST00000536708.2	+	6	580	c.471G>A	c.(469-471)caG>caA	p.Q157Q	CDK5RAP3_ENST00000338399.4_Silent_p.Q132Q	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	132					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TGAAGAAGCAGATTGCCAAGT	0.572000													68	72					0	0	1	0	0
C14orf142	84520	broad.mit.edu	37	14	93673293	93673293	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:93673293G>A	ENST00000306954.4	-	1	146	c.90C>T	c.(88-90)ttC>ttT	p.F30F	RP11-371E8.4_ENST00000557574.1_Intron|RP11-371E8.4_ENST00000557048.1_Intron	NM_032490.4	NP_115879.2	Q9BXV9	CN142_HUMAN	chromosome 14 open reading frame 142	30										endometrium(1)|skin(1)	2		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203)		ACAGGCCCTGGAAAGGGTCGC	0.642000											OREG0022885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	53					0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127224309	127224309	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:127224309G>C	ENST00000321407.2	-	1	1352	c.928C>G	c.(928-930)Cga>Gga	p.R310G	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	310						Golgi membrane|plasma membrane	protein binding	p.R310*(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCTCATCTCGAATGGCCTGC	0.527000											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	32	71					0	0	1	0	0
DNAAF2	55172	broad.mit.edu	37	14	50101217	50101217	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:50101217C>T	ENST00000298292.8	-	1	731	c.651G>A	c.(649-651)ccG>ccA	p.P217P	DNAAF2_ENST00000406043.3_Silent_p.P217P	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	217					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						GAGGACCCTTCGGCTCCCCGT	0.721000													5	11					0	0	1	0	0
FAXDC2	10826	broad.mit.edu	37	5	154200897	154200897	+	Silent	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:154200897G>T	ENST00000326080.5	-	8	1191	c.768C>A	c.(766-768)atC>atA	p.I256I	FAXDC2_ENST00000517938.1_Silent_p.I233I	NM_032385.3	NP_115761.2			fatty acid hydroxylase domain containing 2																		TGGTGGTGATGATGAGGGCCA	0.537000													9	58					0.000274275	0.000281112	1	1	0
PPM1A	5494	broad.mit.edu	37	14	60750163	60750163	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:60750163G>A	ENST00000395076.4	+	2	1172	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	PPM1A_ENST00000325658.3_Missense_Mutation_p.E248K|PPM1A_ENST00000325642.3_Missense_Mutation_p.E321K|PPM1A_ENST00000529574.1_Missense_Mutation_p.E248K	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	248					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TATGGGAAATGAAGAGCTCTG	0.403000													18	80					0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116519252	116519252	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:116519252G>A	ENST00000369503.4	+	1	134	c.4G>A	c.(4-6)Gag>Aag	p.E2K	SLC22A15_ENST00000369502.1_Missense_Mutation_p.E2K	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	2					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GCCCGCCATGGAGGTGGAGGA	0.731000													5	17					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44922763	44922763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrX:44922763C>T	ENST00000377967.4	+	16	1665	c.1624C>T	c.(1624-1626)Cag>Tag	p.Q542*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q497*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q463*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q549*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	542					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTCTGGCCAGCAGCCACAGCT	0.562000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								15	13					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128658131	128658131	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:128658131C>T	ENST00000393245.1	-	2	574	c.201G>A	c.(199-201)atG>atA	p.M67I	TNPO3_ENST00000265388.5_Missense_Mutation_p.M67I|TNPO3_ENST00000482320.1_Start_Codon_SNP_p.M1I|TNPO3_ENST00000471166.1_Missense_Mutation_p.M67I|TNPO3_ENST00000471234.1_Missense_Mutation_p.M67I	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	67					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TCTTCATTTTCATGGTCTGTG	0.443000													20	65					0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87568347	87568347	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:87568347G>A	ENST00000521271.1	+	16	1434	c.1272G>A	c.(1270-1272)ttG>ttA	p.L424L	CPNE3_ENST00000198765.4_Silent_p.L424L	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	424	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						TTGTGCTTTTGATTATTACTG	0.423000													71	99					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7625397	7625397	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:7625397A>G	ENST00000340080.4	+	7	2200	c.1779A>G	c.(1777-1779)gcA>gcG	p.A593A	MIOS_ENST00000405785.1_Silent_p.A593A	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	593										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCATGTTTGCATTTCTGACAA	0.363000													40	88					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108160488	108160488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:108160488C>T	ENST00000278616.4	+	29	4781	c.4396C>T	c.(4396-4398)Cga>Tga	p.R1466*	ATM_ENST00000452508.2_Nonsense_Mutation_p.R1466*	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1466					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R1466*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTTTGTTCTTCGAGACGTTAT	0.308000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			57	84					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112930771	112930771	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:112930771C>T	ENST00000374530.3	+	11	3486	c.3306C>T	c.(3304-3306)aaC>aaT	p.N1102N	AKAP2_ENST00000259318.7_Silent_p.N858N|AKAP2_ENST00000434623.2_Silent_p.N960N|AKAP2_ENST00000374525.1_Silent_p.N947N|PALM2-AKAP2_ENST00000302798.7_Silent_p.N1089N|AKAP2_ENST00000510514.5_Silent_p.N1089N|AKAP2_ENST00000555236.1_Silent_p.N1102N|AKAP2_ENST00000482335.1_3'UTR	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		858							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AAGAAGACAACGAATAAACTT	0.453000													4	41					0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38882115	38882115	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr22:38882115G>A	ENST00000396821.3	-	13	2120	c.2021C>T	c.(2020-2022)tCa>tTa	p.S674L	DDX17_ENST00000381633.3_Missense_Mutation_p.S595L|DDX17_ENST00000444597.1_Missense_Mutation_p.S124L	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	593					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					AGAGCTCTGTGAACTTCTCCC	0.537000													35	29					0	0	1	0	0
XRCC2	7516	broad.mit.edu	37	7	152345860	152345860	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:152345860T>C	ENST00000359321.1	-	3	795	c.710A>G	c.(709-711)cAc>cGc	p.H237R	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	237					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		AAACATCCTGTGCTTCACCAG	0.383000								Homologous recombination					71	76					0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148564458	148564458	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrX:148564458G>A	ENST00000340855.6	-	9	1681	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F	IDS_ENST00000422081.2_Missense_Mutation_p.S280F|IDS_ENST00000541269.1_Missense_Mutation_p.S280F|IDS_ENST00000537071.1_Missense_Mutation_p.S94F	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	491			S -> F (in MPS2; mild form).			lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGTGCGTATGGAATAGCCCAT	0.433000													53	34					0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130425614	130425614	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:130425614C>A	ENST00000373302.3	+	7	699	c.560C>A	c.(559-561)cCg>cAg	p.P187Q	STXBP1_ENST00000373299.1_Missense_Mutation_p.P187Q	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	187					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AAGGAGTACCCGGCTGTGCGG	0.612000													10	61					2.74318e-10	2.90088e-10	1	1	0
MTF1	4520	broad.mit.edu	37	1	38281174	38281174	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:38281174A>C	ENST00000373036.4	-	11	2036	c.1896T>G	c.(1894-1896)tgT>tgG	p.C632W		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	632						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTGACACTGACATGCCTCTT	0.587000													7	26					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95189857	95189857	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:95189857G>C	ENST00000027335.3	-	4	367	c.243C>G	c.(241-243)aaC>aaG	p.N81K	CDH17_ENST00000441892.2_Missense_Mutation_p.N81K|CDH17_ENST00000450165.2_Missense_Mutation_p.N81K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	81	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCAAGGCTCTGTTGTAATACA	0.453000													7	114					0	0	1	0	0
OAZ1	4946	broad.mit.edu	37	19	2273027	2273027	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:2273027C>T	ENST00000583542.4	+	6	705	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S	OAZ1_ENST00000602676.2_Missense_Mutation_p.P203S|OAZ1_ENST00000588673.2_Missense_Mutation_p.P232S|OAZ1_ENST00000582888.4_Missense_Mutation_p.P201S|OAZ1_ENST00000322297.4_Missense_Mutation_p.P202S			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1						polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity			endometrium(1)|lung(2)	3		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)	L-Ornithine(DB00129)	ACCGGGGCATCCCCTTGTCCC	0.632000													9	14					0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	5994918	5994918	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:5994918G>A	ENST00000303657.5	-	18	2249	c.2100C>T	c.(2098-2100)gaC>gaT	p.D700D	RFX2_ENST00000359161.3_Silent_p.D700D|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Silent_p.D675D	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	700					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGCTGCGGGCGTCTGGGCCCG	0.682000													19	25					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31836983	31836983	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:31836983G>A	ENST00000544672.1	-	13	1250	c.954C>T	c.(952-954)atC>atT	p.I318I	SLC44A4_ENST00000375562.4_Silent_p.I352I|SLC44A4_ENST00000229729.6_Silent_p.I394I	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	394						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CGGGGGAGCTGATGTTGGATG	0.572000													3	10					0	0	1	0	0
RPS4Y1	6192	broad.mit.edu	37	Y	2722723	2722723	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrY:2722723G>C	ENST00000250784.8	+	5	582	c.443G>C	c.(442-444)cGc>cCc	p.R148P	RPS4Y1_ENST00000477725.1_3'UTR	NM_001008.3	NP_000999.1			ribosomal protein S4, Y-linked 1											kidney(1)|lung(2)	3						CGAACCATCCGCTACCCAGAT	0.423000													28	69					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94542869	94542869	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:94542869G>T	ENST00000258526.4	+	1	371	c.122G>T	c.(121-123)cGg>cTg	p.R41L		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	41	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCGTGTGGCGGTCGGAGCAA	0.756000													2	1					0.0784	0.078625	1	1	0
SP4	6671	broad.mit.edu	37	7	21469343	21469343	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:21469343C>T	ENST00000222584.3	+	3	778	c.560C>T	c.(559-561)tCa>tTa	p.S187L		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	187	Poly-Ser.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ACTAGTAGTTCATCTCTACAG	0.388000													21	47					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65199521	65199521	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:65199521G>A	ENST00000358691.5	-	6	452	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	HELZ_ENST00000580168.1_Missense_Mutation_p.R96W|HELZ_ENST00000580662.1_5'UTR	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGCACTGCCCGAAAGGCATCT	0.468000													29	66					0	0	1	0	0
GABPB2	126626	broad.mit.edu	37	1	151065763	151065763	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:151065763C>G	ENST00000368918.3	+	4	703	c.372C>G	c.(370-372)atC>atG	p.I124M	GABPB2_ENST00000368917.1_Missense_Mutation_p.I124M|GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Missense_Mutation_p.I124M	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	124					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AGTTACTTATCAAATATGGAG	0.448000													92	36					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52789989	52789989	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:52789989C>T	ENST00000257974.2	-	7	1173	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	366	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TGCTCTGCCTCAGCTATGGCA	0.632000													4	17					0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224321802	224321802	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:224321802C>T	ENST00000366862.5	+	3	447	c.404C>T	c.(403-405)tCa>tTa	p.S135L	FBXO28_ENST00000424254.2_Missense_Mutation_p.S135L	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	135										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		AGAAACCATTCATTAGCTCGT	0.343000													6	7					0	0	1	0	0
TRIM38	10475	broad.mit.edu	37	6	25972267	25972267	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:25972267C>T	ENST00000357085.3	+	5	1154	c.678C>T	c.(676-678)ctC>ctT	p.L226L	TRIM38_ENST00000349458.3_Silent_p.L226L	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	226					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GCAATGAACTCAAGAGCCACA	0.483000													7	33					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198509	20198509	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:20198509G>A	ENST00000400331.5	-	5	1783	c.1475C>T	c.(1474-1476)cCc>cTc	p.P492L	MACC1_ENST00000332878.4_Missense_Mutation_p.P492L|MACC1_ENST00000589011.1_Missense_Mutation_p.P492L	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	492					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTCACCATTGGGAGGCTCCAC	0.423000													28	57					0	0	1	0	0
TMEM39B	55116	broad.mit.edu	37	1	32542402	32542402	+	Silent	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:32542402C>G	ENST00000427288.1	+	5	525	c.45C>G	c.(43-45)acC>acG	p.T15T	TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000456834.2_Silent_p.T130T|TMEM39B_ENST00000336294.5_Silent_p.T130T|TMEM39B_ENST00000373634.4_Intron			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	130						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGATGGTGACCACCATCGTTC	0.577000													15	49					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113265434	113265434	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:113265434A>G	ENST00000401783.2	-	6	1703	c.1367T>C	c.(1366-1368)aTg>aCg	p.M456T	SVEP1_ENST00000302728.8_Missense_Mutation_p.M456T|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.M433T|SVEP1_ENST00000374469.1_Missense_Mutation_p.M433T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	456	Sushi 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTTATATAACATTTCCCTTGT	0.428000													27	55					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61432167	61432167	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:61432167C>T	ENST00000424789.2	+	12	1780	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	TANC2_ENST00000389520.4_Silent_p.F592F	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	592							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGCTGCCTTTCCATAGGATTT	0.443000													19	53					0	0	1	0	0
FBXO41	150726	broad.mit.edu	37	2	73495886	73495886	+	Silent	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:73495886C>A	ENST00000521871.1	-	2	1288	c.873G>T	c.(871-873)gtG>gtT	p.V291V	FBXO41_ENST00000520530.2_Silent_p.V291V|FBXO41_ENST00000295133.5_Silent_p.V352V			Q8TF61	FBX41_HUMAN	F-box protein 41	291						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GTTCCTTGTGCACCAGGTCCT	0.657000													5	8					0.000602214	0.000614522	1	1	0
STXBP5L	9515	broad.mit.edu	37	3	120976135	120976135	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:120976135C>G	ENST00000273666.6	+	17	2058	c.1787C>G	c.(1786-1788)aCt>aGt	p.T596S	STXBP5L_ENST00000471454.1_Missense_Mutation_p.T596S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.T596S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.T596S|STXBP5L_ENST00000497029.1_Missense_Mutation_p.T596S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	596					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)		AGCACTAACACTGTTGCTAGT	0.393000													38	77					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	rs28934576	by1000genomes	TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:7577120C>A	ENST00000420246.2	-	8	950	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	7					6.72482e-11	7.13301e-11	1	1	0
ZNF148	7707	broad.mit.edu	37	3	124952389	124952389	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:124952389T>C	ENST00000360647.4	-	9	1666	c.1181A>G	c.(1180-1182)aAa>aGa	p.K394R	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.K394R|ZNF148_ENST00000485866.1_Missense_Mutation_p.K394R|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Missense_Mutation_p.K394R	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	394					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ACTATTAATTTTTTTGAGAAC	0.383000													32	54					0	0	1	0	0
APCDD1	147495	broad.mit.edu	37	18	10468575	10468575	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr18:10468575C>T	ENST00000355285.5	+	2	522	c.168C>T	c.(166-168)ctC>ctT	p.L56L	APCDD1_ENST00000578882.1_Silent_p.L56L	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1						hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	p.L56L(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		ATCACATGCTCAAACATCTCC	0.542000													11	64					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18280178	18280178	+	Silent	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:18280178T>C	ENST00000377369.2	+	8	1641	c.1368T>C	c.(1366-1368)caT>caC	p.H456H	SLC39A12_ENST00000539911.1_Silent_p.H322H|SLC39A12_ENST00000377374.4_Silent_p.H456H|SLC39A12_ENST00000377371.3_Silent_p.H456H	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	456					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GAGGCATCCATGGATTTTTCT	0.328000													37	48					0	0	1	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50725148	50725148	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:50725148G>C	ENST00000515869.1	-	6	1537	c.1417C>G	c.(1417-1419)Cta>Gta	p.L473V	PGBD3_ENST00000603152.1_Missense_Mutation_p.L473V|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.L473V|PGBD3_ENST00000508005.2_Missense_Mutation_p.L5V|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000374127.3_Missense_Mutation_p.L5V	NM_001277059.1	NP_001263988.1																					TGTAAACTTAGTGTTCGAGGC	0.383000													8	84					0	0	1	0	0
SSR2	6746	broad.mit.edu	37	1	155981632	155981632	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:155981632C>T	ENST00000295702.4	-	5	481	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	SSR2_ENST00000480567.1_Missense_Mutation_p.R137Q|SSR2_ENST00000496742.1_Missense_Mutation_p.G68R|SSR2_ENST00000529008.1_Intron	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	137					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding	p.R137L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTCAAACTCCCGCTGAGCCAG	0.483000													9	71					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62228587	62228587	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:62228587G>A	ENST00000371158.2	+	2	136		c.e2+1		INADL_ENST00000316485.6_Splice_Site	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)						intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CCTGCTACAGGTATACTGGAT	0.259000													70	37					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80735899	80735899	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:80735899T>C	ENST00000458043.2	+	43	5201	c.5195T>C	c.(5194-5196)aTt>aCt	p.I1732T	OTOGL_ENST00000547103.1_Missense_Mutation_p.I1720T	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGCCAGTGCATTGATTTATTA	0.313000													5	9					0	0	1	0	0
FTSJ2	29960	broad.mit.edu	37	7	2275054	2275054	+	Silent	SNP	T	T	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:2275054T>A	ENST00000242257.8	-	3	472	c.444A>T	c.(442-444)gcA>gcT	p.A148A	FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000407040.1_Silent_p.A54A	NM_013393.1	NP_037525.1	Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	148					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		GAATCACATCTGCTCTCCTGC	0.577000													13	59					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327640	57327640	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:57327640G>A	ENST00000326441.9	-	10	2533	c.2170C>T	c.(2170-2172)Cat>Tat	p.H724Y	PEG3_ENST00000593695.1_Missense_Mutation_p.H598Y|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H724Y|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.H600Y|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	724					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCCCACTATGAATGACAGAT	0.443000													15	86					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48691105	48691105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:48691105G>A	ENST00000544264.1	-	9	5675	c.5395C>T	c.(5395-5397)Cag>Tag	p.Q1799*	CELSR3_ENST00000164024.4_Nonsense_Mutation_p.Q1799*			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1799	Laminin G-like 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)		AGGACCCCCTGCGTTGCCCGT	0.587000													6	52					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26491923	26491923	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:26491923C>T	ENST00000265944.5	+	34	4783	c.4617C>T	c.(4615-4617)ttC>ttT	p.F1539F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1539					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGGAAGATTTCTATTATAAGG	0.348000													27	28					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86452071	86452071	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:86452071G>A	ENST00000297814.2	-	18	4194	c.4051C>T	c.(4051-4053)Cat>Tat	p.H1351Y	RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.2_ENST00000439378.3_RNA|RP11-575L7.2_ENST00000412069.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.H1254Y|RP11-575L7.2_ENST00000458016.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.H1285Y|RP11-575L7.2_ENST00000417672.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1351					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GTGACACCATGAAGTCGTCCC	0.413000													32	51					0	0	1	0	0
HSD11B1L	374875	broad.mit.edu	37	19	5687304	5687304	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:5687304G>A	ENST00000581521.1	+	8	895	c.420G>A	c.(418-420)gtG>gtA	p.V140V	HSD11B1L_ENST00000581773.1_Silent_p.V140V|HSD11B1L_ENST00000577917.1_Silent_p.V59V|HSD11B1L_ENST00000411793.2_Silent_p.V6V|HSD11B1L_ENST00000339423.2_Silent_p.V140V|HSD11B1L_ENST00000581893.1_Silent_p.V6V|HSD11B1L_ENST00000583928.1_Silent_p.V6V|HSD11B1L_ENST00000301382.4_Silent_p.V59V|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000423665.2_Silent_p.V140V|HSD11B1L_ENST00000342970.2_Silent_p.V53V|RPL36_ENST00000579649.1_Intron|RPL36_ENST00000582380.2_Intron			Q7Z5J1	DHI1L_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1-like	140						extracellular region	binding|oxidoreductase activity										TAAACTTTGTGAGCTACGTGC	0.716000													12	21					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101877354	101877354	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:101877354C>T	ENST00000360264.3	+	22	3509	c.3489C>T	c.(3487-3489)acC>acT	p.T1163T	CUX1_ENST00000292535.7_Silent_p.T1152T|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.T994T|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Silent_p.T1096T|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Silent_p.T1050T|CUX1_ENST00000549414.2_Silent_p.T1130T	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1152					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TTGGGGAGACCATCTTAGGGC	0.547000													8	65					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1251361	1251361	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:1251361C>G	ENST00000447027.1	+	11	1414	c.1356C>G	c.(1354-1356)taC>taG	p.Y452*	MUC5B_ENST00000529681.1_Nonsense_Mutation_p.Y449*			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	449	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTGCAGCTACGTTCTGTCCA	0.642000													18	89					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44019601	44019601	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:44019601C>T	ENST00000359947.4	+	5	708	c.368C>T	c.(367-369)tCa>tTa	p.S123L	PTPRF_ENST00000372414.3_Missense_Mutation_p.S123L|PTPRF_ENST00000438120.1_Missense_Mutation_p.S123L|PTPRF_ENST00000372413.3_Missense_Mutation_p.S123L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	123	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCAAGCTCTCAGTGCTCGAA	0.602000													8	13					0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31457657	31457657	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:31457657A>G	ENST00000322054.5	+	1	455	c.170A>G	c.(169-171)aAc>aGc	p.N57S	EHD3_ENST00000541626.1_Missense_Mutation_p.N57S	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	57					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)					GACTTCGACAACAAGCCCATG	0.622000													20	39					0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148851342	148851342	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:148851342G>A	ENST00000475153.1	+	2	597	c.330G>A	c.(328-330)caG>caA	p.Q110Q	ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000540950.1_Silent_p.Q115Q|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	110					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GGCTGCTGCAGAGGCGGCTGG	0.567000													62	50					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7786165	7786165	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:7786165C>G	ENST00000358415.4	+	18	2496	c.2330C>G	c.(2329-2331)aCt>aGt	p.T777S	ITIH2_ENST00000379587.4_Missense_Mutation_p.T766S	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	777					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GAAATCAGCACTGAGACCATC	0.438000													14	67					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138480	126138480	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:126138480G>A	ENST00000299308.3	+	9	2469	c.2461G>A	c.(2461-2463)Gaa>Aaa	p.E821K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E333K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	821						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CATAGAGCGCGAAGGAAACCA	0.493000													20	25					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122641217	122641217	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:122641217C>T	ENST00000195173.4	-	11	1653	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	SEMA5B_ENST00000357599.3_Silent_p.L450L|SEMA5B_ENST00000451055.2_Silent_p.L504L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	450	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCTCGCTCATCAGGAAGAGGC	0.672000													6	12					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916131	131916131	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:131916131C>G	ENST00000286355.5	-	7	3890	c.1798G>C	c.(1798-1800)Gat>Cat	p.D600H	ADCY8_ENST00000377928.3_Missense_Mutation_p.D600H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	600					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)			TTGACGATATCTTCAGGCAAG	0.478000										HNSCC(32;0.087)			18	129					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23816014	23816014	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:23816014G>A	ENST00000264867.2	-	8	1211	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	364					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GTCCACCAGTGAGGACTGAGG	0.498000													15	72					0	0	1	0	0
C21orf33	8209	broad.mit.edu	37	21	45563204	45563204	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr21:45563204C>T	ENST00000291577.6	+	6	732	c.639C>T	c.(637-639)atC>atT	p.I213I	C21orf33_ENST00000348499.5_Silent_p.I182I	NM_004649.6	NP_004640	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	213				I -> M (in Ref. 3; CAA68857).		mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CAGAGGCCATCAAGGCCCTGG	0.642000													16	23					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32157485	32157485	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:32157485C>T	ENST00000375050.4	-	1	478	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	70							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GCCTGGGCCTCGTCCAGGCTC	0.647000													11	25					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117651426	117651426	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:117651426G>T	ENST00000321322.6	-	2	327	c.326C>A	c.(325-327)gCc>gAc	p.A109D	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	49	Ig-like C2-type 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGAGCCCGCGGCCGGGCAGGG	0.662000													7	48					1.6384e-10	1.73521e-10	1	1	0
PMS1	5378	broad.mit.edu	37	2	190728532	190728532	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:190728532A>G	ENST00000441310.2	+	10	2153	c.1920A>G	c.(1918-1920)gaA>gaG	p.E640E	PMS1_ENST00000409823.3_Silent_p.E601E|PMS1_ENST00000418224.3_Silent_p.E464E|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000432292.3_Silent_p.E464E	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	640					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GAGCCATTGAACAGGAGTCAC	0.353000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					58	110					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85383030	85383030	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:85383030G>A	ENST00000258888.5	+	5	1293	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	376					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACCATGACTGAGTACAAGAT	0.602000													18	24					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68566745	68566745	+	Missense_Mutation	SNP	C	C	T	rs141191480		TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:68566745C>T	ENST00000265641.5	-	6	788	c.634G>A	c.(634-636)Ggt>Agt	p.G212S	CPT1A_ENST00000539743.1_Missense_Mutation_p.G212S|CPT1A_ENST00000540367.1_Missense_Mutation_p.G212S|CPT1A_ENST00000376618.2_Missense_Mutation_p.G212S	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	212					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTCCAAGACCGACAGCAAAA	0.403000													14	42					0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45107738	45107738	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr21:45107738G>C	ENST00000340648.4	+	13	1600	c.1483G>C	c.(1483-1485)Gag>Cag	p.E495Q		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	495					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GTTGCCCCCAGAGGACATGTC	0.582000													24	73					0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78162253	78162253	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:78162253G>A	ENST00000573882.1	+	7	1289	c.753G>A	c.(751-753)ctG>ctA	p.L251L	CARD14_ENST00000392434.2_Silent_p.L14L|CARD14_ENST00000344227.2_Silent_p.L251L|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Silent_p.L251L			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	251					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	p.L251L(1)|p.L14L(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGCAGTCCCTGAGGACAGCCA	0.592000													28	29					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138223425	138223425	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:138223425G>A	ENST00000343526.4	+	7	1235	c.1020G>A	c.(1018-1020)atG>atA	p.M340I	TRIM24_ENST00000415680.2_Missense_Mutation_p.M340I|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	340					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ACCATCGCATGAAACTTATGC	0.393000													42	106					0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74691734	74691734	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:74691734G>A	ENST00000233616.4	-	2	630	c.468C>T	c.(466-468)ttC>ttT	p.F156F	MOGS_ENST00000452063.2_Silent_p.F50F|MOGS_ENST00000535045.1_Intron|MOGS_ENST00000462443.1_Intron|MOGS_ENST00000409065.1_Silent_p.F156F	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	156					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GTTGGCGCCCGAAGGAGAGGC	0.647000													33	66					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101605830	101605830	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:101605830T>C	ENST00000284395.5	+	33	5579	c.5179T>C	c.(5179-5181)Tac>Cac	p.Y1727H	LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.Y1730H			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1730					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTGGAGCCCTACATGGCCCC	0.622000													15	28					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79268677	79268677	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:79268677G>C	ENST00000374759.3	-	1	428	c.45C>G	c.(43-45)atC>atG	p.I15M	SLC38A10_ENST00000288439.5_Missense_Mutation_p.I15M	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	15					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGCTGTTCACGATGTTCGTGA	0.687000													11	68					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101718237	101718237	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:101718237C>T	ENST00000254190.3	-	3	2240	c.1765G>A	c.(1765-1767)Gat>Aat	p.D589N	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	589					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.R588fs*28(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGCGGTAATCTCTCATCAGT	0.473000													15	15					0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12858545	12858545	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:12858545A>G	ENST00000155926.4	+	1	1531	c.112A>G	c.(112-114)Agt>Ggt	p.S38G	TRIB2_ENST00000405331.3_Missense_Mutation_p.S38G|TRIB2_ENST00000381465.2_Intron	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	38					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCCCAGCCAGAGTTTCAGCCC	0.542000											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	60					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65032653	65032653	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:65032653G>T	ENST00000394156.3	-	4	788	c.335C>A	c.(334-336)gCc>gAc	p.A112D	CDH11_ENST00000268603.4_Missense_Mutation_p.A112D|CDH11_ENST00000566827.1_5'UTR			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	112	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGTCTTGGTGGCATGAATGTT	0.498000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			6	27					3.59834e-05	3.72076e-05	1	1	0
KLF4	9314	broad.mit.edu	37	9	110249982	110249982	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:110249982C>T	ENST00000374672.4	-	3	1166	c.693G>A	c.(691-693)ctG>ctA	p.L231L		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	231	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GCGACGCCTTCAGCACGAACT	0.697000													5	3					0	0	1	0	0
ALDH3A2	224	broad.mit.edu	37	17	19576480	19576480	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:19576480T>A	ENST00000339618.4	+	10	1681	c.1460T>A	c.(1459-1461)cTg>cAg	p.L487Q	ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.L487Q|ALDH3A2_ENST00000574597.1_3'UTR|ALDH3A2_ENST00000395575.2_Intron|ALDH3A2_ENST00000579855.1_Intron|ALDH3A2_ENST00000176643.6_Intron	NM_001031806.1	NP_001026976.1	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	0					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	CAAGCTGTGCTGAGGAGAAAG	0.448000													31	197					0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72962043	72962043	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:72962043C>T	ENST00000361138.5	+	20	2688	c.2630C>T	c.(2629-2631)tCa>tTa	p.S877L	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	877					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GAAGAAAGATCAAGAGCTTCC	0.413000													9	34					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974757	21974757	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:21974757G>C	ENST00000304494.5	-	1	340	c.70C>G	c.(70-72)Cgg>Ggg	p.R24G	CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R24G|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R24G|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R24G|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	24			R -> C (in CMM2).|R -> P (in CMM2).|R -> Q (found in a patient with multiple primary melanoma; partial loss of CDK4 binding).		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.?(23)|p.0(1)|p.R22fs*14(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)		TCCTCTACCCGACCCCGGGCC	0.736000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			16	13					0	0	1	0	0
TTL	150465	broad.mit.edu	37	2	113258869	113258869	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:113258869C>T	ENST00000233336.6	+	4	747	c.556C>T	c.(556-558)Ctt>Ttt	p.L186F		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase		TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		CCAGAAATATCTTGAGCACCC	0.448000			T	ETV6	ALL								29	18					0	0	1	0	0
MED9	55090	broad.mit.edu	37	17	17380536	17380536	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:17380536G>A	ENST00000268711.3	+	1	237	c.181G>A	c.(181-183)Gag>Aag	p.E61K	MED9_ENST00000580462.1_Missense_Mutation_p.E61K|MED9_ENST00000585041.1_3'UTR	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	61					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGGGAGGAAGAGAACTACTC	0.627000													14	17					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49508272	49508272	+	Silent	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr20:49508272T>C	ENST00000396029.3	-	5	3546	c.2979A>G	c.(2977-2979)ccA>ccG	p.P993P	ADNP_ENST00000396032.3_Silent_p.P993P|ADNP_ENST00000371602.4_Silent_p.P993P|ADNP_ENST00000349014.3_Silent_p.P993P	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	993						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ACCAGGTTCCTGGTTTCATTT	0.498000													35	58					0	0	1	0	0
FHIT	2272	broad.mit.edu	37	3	59737984	59737984	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:59737984C>T	ENST00000468189.1	-	9	782	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000341848.4_Missense_Mutation_p.E138K|FHIT_ENST00000492590.1_Missense_Mutation_p.E138K|FHIT_ENST00000476844.1_Missense_Mutation_p.E138K			P49789	FHIT_HUMAN	fragile histidine triad	138					nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GCTGCGGCTTCTGCTGCCATT	0.517000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				12	57					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135318736	135318736	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:135318736C>T	ENST00000367837.5	-	6	804	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000527578.1_Missense_Mutation_p.E36K|HBS1L_ENST00000367824.4_Missense_Mutation_p.E36K|HBS1L_ENST00000367826.2_Missense_Mutation_p.E158K|HBS1L_ENST00000415177.2_Missense_Mutation_p.E135K	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	200					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		ATGGCATCTTCAATGGGCGGT	0.433000													22	67					0	0	1	0	0
TCF21	6943	broad.mit.edu	37	6	134210812	134210812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:134210812C>T	ENST00000367882.4	+	1	537	c.277C>T	c.(277-279)Cga>Tga	p.R93*	TCF21_ENST00000237316.3_Nonsense_Mutation_p.R93*|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	93	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GGCCCGCATGCGAGTGCTGAG	0.687000													10	69					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184072067	184072067	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:184072067C>T	ENST00000265593.4	-	15	1714	c.1543G>A	c.(1543-1545)Gtg>Atg	p.V515M	CLCN2_ENST00000434054.2_Missense_Mutation_p.V471M|CLCN2_ENST00000344937.7_Missense_Mutation_p.V498M|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Missense_Mutation_p.V515M|CLCN2_ENST00000423355.2_3'UTR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	515						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCCGTGGACACTGTGTGTGTC	0.627000											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	21					0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7570448	7570448	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:7570448T>G	ENST00000361664.2	+	6	1082	c.941T>G	c.(940-942)cTg>cGg	p.L314R		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	314										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						TCGCACATCCTGAAAGGAAAT	0.607000													34	45					0	0	1	0	0
ZNF781	163115	broad.mit.edu	37	19	38160878	38160878	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:38160878C>A	ENST00000358582.4	-	4	920	c.172G>T	c.(172-174)Ggg>Tgg	p.G58W	ZNF781_ENST00000590008.1_Missense_Mutation_p.G58W|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TATGGTTTCCCACCAGTGTGA	0.388000													194	133					9.39698e-115	1.02954e-114	1	1	0
CCDC9	26093	broad.mit.edu	37	19	47761887	47761887	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:47761887G>A	ENST00000221922.6	+	3	297	c.75G>A	c.(73-75)cgG>cgA	p.R25R		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	25										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGCTCTTCGGCGGAAGAATG	0.592000													45	60					0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134496761	134496761	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:134496761G>A	ENST00000413996.3	-	1	368	c.39C>T	c.(37-39)ctC>ctT	p.L13L	SGK1_ENST00000367858.5_Intron|SGK1_ENST00000528577.1_Intron	NM_001143678.1	NP_001137150.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Necessary for localization to the cytoplasm.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GCAGGGACTCGAGCCGGGCTC	0.726000													3	4					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167689372	167689372	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:167689372G>A	ENST00000519204.1	+	28	7637	c.7519G>A	c.(7519-7521)Gat>Aat	p.D2507N	TENM2_ENST00000545108.1_Missense_Mutation_p.D2627N|TENM2_ENST00000518659.1_Missense_Mutation_p.D2628N|TENM2_ENST00000403607.2_Missense_Mutation_p.D2452N|TENM2_ENST00000520394.1_Missense_Mutation_p.D2389N					teneurin transmembrane protein 2																		TGGCTCAGCCGATGGCGACCT	0.592000													4	16					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888554	38888554	+	Silent	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:38888554T>C	ENST00000302328.3	-	26	5205	c.5007A>G	c.(5005-5007)gtA>gtG	p.V1669V	SCN11A_ENST00000456224.3_Silent_p.V1631V|SCN11A_ENST00000450244.1_Silent_p.V1669V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1669					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCAAGTCCATTACTAGAAATT	0.453000													36	60					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58238780	58238780	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:58238780C>T	ENST00000317398.6	-	1	212	c.117G>A	c.(115-117)gcG>gcA	p.A39A	AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000596939.1_Silent_p.A39A|ZNF671_ENST00000335820.3_5'UTR|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCGTTAGCTCCGCCATAGGAC	0.687000													10	11					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													6	21					0	0	1	0	0
ZNF286A	57335	broad.mit.edu	37	17	15620575	15620575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:15620575C>T	ENST00000464847.2	+	5	2090	c.1537C>T	c.(1537-1539)Caa>Taa	p.Q513*	ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Nonsense_Mutation_p.Q513*|ZNF286A_ENST00000413242.2_Nonsense_Mutation_p.Q513*|ZNF286A_ENST00000593105.1_Nonsense_Mutation_p.Q503*|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Nonsense_Mutation_p.Q513*			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		CATCAGACATCAAAGAGTTCA	0.373000													3	13					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49071899	49071899	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrX:49071899G>A	ENST00000376265.2	-	28	3435	c.3374C>T	c.(3373-3375)gCg>gTg	p.A1125V	CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1060V|CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1114V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1125	Dihydropyridine binding (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CATGAAGAACGCAATGATGAT	0.483000													10	8					0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77423952	77423952	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:77423952G>A	ENST00000255194.6	-	17	2045	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y	AP3B1_ENST00000519295.1_Missense_Mutation_p.H575Y	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	624					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TTGAGAGTATGAGATAAGGTG	0.363000									Hermansky-Pudlak syndrome				3	21					0	0	1	0	0
TIMM17B	10245	broad.mit.edu	37	X	48755064	48755064	+	Translation_Start_Site	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrX:48755064C>T	ENST00000396779.3	-	0	117				TIMM17B_ENST00000376582.3_De_novo_Start_OutOfFrame|TIMM17B_ENST00000495490.2_De_novo_Start_InFrame	NM_001167947.1	NP_001161419.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)						protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						AGTCAGGCCACGCCCCCAGCG	0.652000													4	6					0	0	1	0	0
ZFP30	22835	broad.mit.edu	37	19	38135520	38135520	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:38135520C>A	ENST00000351218.2	-	4	684	c.127G>T	c.(127-129)Gtg>Ttg	p.V43L	ZFP30_ENST00000514101.2_Missense_Mutation_p.V43L|ZFP30_ENST00000392144.1_Missense_Mutation_p.V43L|ZFP30_ENST00000589018.1_Missense_Mutation_p.V43L	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCAGTGACACCAAGTTGCTA	0.403000													93	82					1.09269e-41	1.19156e-41	1	1	0
USP54	159195	broad.mit.edu	37	10	75289370	75289370	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:75289370G>A	ENST00000319786.7	-	15	2971	c.2128C>T	c.(2128-2130)Cag>Tag	p.Q710*	USP54_ENST00000394811.2_Intron|USP54_ENST00000339859.4_Intron|USP54_ENST00000497106.1_Intron|USP54_ENST00000408019.1_Intron|USP54_ENST00000428547.1_Intron			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	0					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGCCATGCCTGAAAGCCCCAA	0.488000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	21					0	0	1	0	0
SRD5A1	6715	broad.mit.edu	37	5	6633867	6633867	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:6633867G>A	ENST00000274192.5	+	1	412	c.178G>A	c.(178-180)Gag>Aag	p.E60K	SRD5A1_ENST00000537411.1_Silent_p.R68R|SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000538824.1_Silent_p.R68R	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	60				Missing (in Ref. 4; AAF14869).	androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	GGTGGTGCAGGAGCTGCCCTC	0.711000													3	21					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21191015	21191015	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:21191015C>T	ENST00000602326.1	-	20	3393	c.2810G>A	c.(2809-2811)cGc>cAc	p.R937H	EIF4G3_ENST00000400422.1_Missense_Mutation_p.R931H|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R651H|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R421H|EIF4G3_ENST00000264211.8_Missense_Mutation_p.R931H|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R535H|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R937H	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	931	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGTGAGCAGGCGACACAGGCA	0.443000													54	69					0	0	1	0	0
RAB3B	5865	broad.mit.edu	37	1	52442657	52442657	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:52442657C>T	ENST00000371655.3	-	2	345	c.133G>A	c.(133-135)Gac>Aac	p.D45N		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	45					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.D45N(1)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						GTGAACGTGTCATCAGCATAG	0.502000													45	48					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146650281	146650281	+	RNA	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:146650281G>T	ENST00000607149.1	+	0	350				RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA																							GAACGAGTATGATGATAACGG	0.433000													4	129					0.150653	0.150653	1	1	0
SURF6	6838	broad.mit.edu	37	9	136202906	136202906	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:136202906A>C	ENST00000372022.4	-	1	329	c.64T>G	c.(64-66)Tcg>Gcg	p.S22A		NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	22						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TCCGGGGCCGAATGGGAGCAG	0.692000													42	76					0	0	1	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178080766	178080766	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:178080766G>A	ENST00000411529.2	+	4	388	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	HNRNPA3_ENST00000435711.1_Missense_Mutation_p.E135K|HNRNPA3_ENST00000392524.2_Missense_Mutation_p.E135K	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	135	RRM 1.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						TGGTATTAAAGAAGATACAGA	0.328000													4	6					0	0	1	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675244	54675244	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:54675244G>A	ENST00000546500.1	+	2	705	c.90G>A	c.(88-90)ctG>ctA	p.L30L	HNRNPA1_ENST00000330752.8_Silent_p.L30L|HNRNPA1_ENST00000340913.6_Silent_p.L30L|HNRNPA1_ENST00000547276.1_Silent_p.L30L|RP11-968A15.8_ENST00000553061.1_RNA			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	30	Globular A domain.|RRM 1.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATGAGAGCCTGAGGAGCCATT	0.502000													13	49					0	0	1	0	0
GRAMD3	65983	broad.mit.edu	37	5	125805371	125805371	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:125805371C>T	ENST00000285689.3	+	3	667	c.206C>T	c.(205-207)tCa>tTa	p.S69L	GRAMD3_ENST00000544396.1_Intron|GRAMD3_ENST00000511134.1_Missense_Mutation_p.S53L|GRAMD3_ENST00000515200.1_Intron|GRAMD3_ENST00000542322.1_Missense_Mutation_p.S77L|GRAMD3_ENST00000513040.1_Missense_Mutation_p.S84L|GRAMD3_ENST00000514932.1_3'UTR|GRAMD3_ENST00000543198.1_Intron|GRAMD3_ENST00000502348.1_5'UTR|RP11-517I3.1_ENST00000515808.1_RNA	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	69										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		TTCTTTAGGTCAAAATCCAGT	0.388000													16	107					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35298106	35298106	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:35298106C>T	ENST00000254457.5	+	3	2008	c.597C>T	c.(595-597)ttC>ttT	p.F199F	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	199					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGGCCGCCTTCGCTGCTACAC	0.677000													8	2					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179638746	179638746	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:179638746A>G	ENST00000589042.1	-	31	7373	c.7149T>C	c.(7147-7149)agT>agC	p.S2383S	TTN_ENST00000460472.2_Silent_p.S2337S|TTN_ENST00000342992.6_Silent_p.S2383S|TTN_ENST00000359218.5_Silent_p.S2337S|TTN_ENST00000342175.6_Silent_p.S2337S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.S2383S|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000591111.1_Silent_p.S2383S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2106	Ig-like 13.						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)			CGCCTTCCACACTTTCCAAGG	0.463000													27	91					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29737621	29737621	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr22:29737621G>A	ENST00000357586.2	-	13	1851	c.1665C>T	c.(1663-1665)atC>atT	p.I555I	AP1B1_ENST00000317368.7_Silent_p.I555I|AP1B1_ENST00000415447.1_Silent_p.I555I|AP1B1_ENST00000405198.1_Silent_p.I555I|AP1B1_ENST00000402502.1_Silent_p.I555I|AP1B1_ENST00000432560.2_Silent_p.I555I|AP1B1_ENST00000356015.2_Silent_p.I555I	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	555					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTGTGGGCTCGATGAGGTCCG	0.612000													55	26					0	0	1	0	0
TERF2IP	54386	broad.mit.edu	37	16	75681944	75681944	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:75681944G>A	ENST00000300086.4	+	1	261	c.164G>A	c.(163-165)cGa>cAa	p.R55Q		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	55					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						ACCGTGTGCCGAGTGCAGGAG	0.706000													5	7					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32599593	32599593	+	Splice_Site	SNP	A	A	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:32599593A>T	ENST00000341377.5	+	7	1217	c.700A>T	c.(700-702)Agt>Tgt	p.S234C	NRG1_ENST00000523079.1_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000338921.4_Splice_Site_p.K234*|NRG1_ENST00000405005.3_Splice_Site_p.K234*|NRG1_ENST00000521670.1_Splice_Site_p.K234*|NRG1_ENST00000520502.2_Intron	NM_013964.3	NP_039258.1	Q02297	NRG1_HUMAN	neuregulin 1	234					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AAACCAAGAAAGTATGTCAAA	0.398000													9	39					0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43008976	43008976	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:43008976G>A	ENST00000587309.1	-	11	1570	c.1547C>T	c.(1546-1548)tCt>tTt	p.S516F	KIF18B_ENST00000593135.1_Missense_Mutation_p.S504F|KIF18B_ENST00000590129.1_Missense_Mutation_p.S525F|KIF18B_ENST00000339151.4_Missense_Mutation_p.S516F|KIF18B_ENST00000438933.2_Missense_Mutation_p.S516F	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTACTGCTTAGAACGGTCCCC	0.557000													45	55					0	0	1	0	0
PAX9	5083	broad.mit.edu	37	14	37132434	37132434	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:37132434G>A	ENST00000361487.6	+	2	562	c.337G>A	c.(337-339)Gac>Aac	p.D113N	PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Missense_Mutation_p.D113N			P55771	PAX9_HUMAN	paired box 9	113	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CGGCGTGTGCGACAAGTACAA	0.602000													14	81					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71007829	71007829	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:71007829A>T	ENST00000393567.2	-	34	5282	c.5132T>A	c.(5131-5133)aTt>aAt	p.I1711N		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1711										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)				TCCACACTGAATTGTGGCAAA	0.493000													11	100					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56720491	56720491	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:56720491T>A	ENST00000425394.2	-	7	1548	c.1172A>T	c.(1171-1173)gAc>gTc	p.D391V	PAN2_ENST00000257931.5_Missense_Mutation_p.D391V|PAN2_ENST00000440411.3_Missense_Mutation_p.D391V|PAN2_ENST00000548043.1_Missense_Mutation_p.D391V	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	391					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGGCAGCAGGTCCTGGCTCCA	0.582000													17	21					0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72927051	72927051	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:72927051G>A	ENST00000331427.4	+	6	1413	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	OTOP2_ENST00000580223.1_Missense_Mutation_p.E441K	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	441						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCACCCCAAGGAGCCCTGCCA	0.622000													30	10					0	0	1	0	0
SRF	6722	broad.mit.edu	37	6	43141795	43141795	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:43141795G>A	ENST00000265354.4	+	2	1082	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	SRF_ENST00000457278.2_Missense_Mutation_p.E38K	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	242	Asp/Glu-rich (acidic).				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CACTGGCTTTGAAGAGACAGA	0.567000													8	24					0	0	1	0	0
TMED7	51014	broad.mit.edu	37	5	114961372	114961372	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:114961372C>T	ENST00000456936.3	-	1	498	c.118G>A	c.(118-120)Gag>Aag	p.E40K	TICAM2_ENST00000408996.4_Missense_Mutation_p.E40K|TMED7_ENST00000503010.1_Intron|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.E40K|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.E40K	NM_181836.5	NP_861974.1			transmembrane emp24 protein transport domain containing 7											breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)		TCAGGAAGCTCGAAGGTGATC	0.672000													9	24					0	0	1	0	0
MZB1	51237	broad.mit.edu	37	5	138723604	138723604	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:138723604G>A	ENST00000302125.8	-	4	477	c.420C>T	c.(418-420)tcC>tcT	p.S140S	MZB1_ENST00000412103.2_Silent_p.S48S	NM_016459.3	NP_057543.2	Q8WU39	PERP1_HUMAN	marginal zone B and B1 cell-specific protein	140					apoptosis|positive regulation of immunoglobulin biosynthetic process	cytoplasm|endoplasmic reticulum chaperone complex	protein binding										AACATGTCCTGGAGAGCCTAG	0.607000													9	21					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61417591	61417591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:61417591G>T	ENST00000424789.2	+	10	1487	c.1483G>T	c.(1483-1485)Gaa>Taa	p.E495*	TANC2_ENST00000389520.4_Nonsense_Mutation_p.E495*	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	495							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCTTCTTCGGGAACCTCACCT	0.542000													27	59					2.65835e-16	2.85435e-16	1	1	0
TBX3	6926	broad.mit.edu	37	12	115120991	115120991	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:115120991C>T	ENST00000349155.2	-	1	978	c.15G>A	c.(13-15)atG>atA	p.M5I	TBX3_ENST00000257566.3_Missense_Mutation_p.M5I	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	5					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CCGGATCTCTCATGGAGAGGC	0.602000											OREG0022153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	47					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67799917	67799917	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr13:67799917T>C	ENST00000544246.1	-	2	3347	c.2656A>G	c.(2656-2658)Act>Gct	p.T886A	PCDH9_ENST00000377865.2_Missense_Mutation_p.T886A|PCDH9_ENST00000377861.3_Missense_Mutation_p.T886A|PCDH9_ENST00000328454.5_Missense_Mutation_p.T886A|PCDH9_ENST00000456367.1_Missense_Mutation_p.T886A	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	886					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCTTCGATAGTAACAAAGTTC	0.428000													19	47					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12447507	12447507	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:12447507C>T	ENST00000397026.2	+	7	1063	c.680C>T	c.(679-681)tCa>tTa	p.S227L	PPARG_ENST00000309576.6_Missense_Mutation_p.S221L|PPARG_ENST00000397000.1_Missense_Mutation_p.S221L|PPARG_ENST00000287820.6_Missense_Mutation_p.S249L|PPARG_ENST00000397010.2_Missense_Mutation_p.S221L|PPARG_ENST00000397015.2_Missense_Mutation_p.S221L|PPARG_ENST00000539812.1_Missense_Mutation_p.S219L|PPARG_ENST00000397012.2_Missense_Mutation_p.S221L			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	249	Interaction with FAM120B (By similarity).				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TTGTATGACTCATACATAAAG	0.502000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						14	23					0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71458090	71458090	+	Splice_Site	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:71458090G>C	ENST00000322937.6	+	1	118	c.15G>C	c.(13-15)aaG>aaC	p.K5N	AMBN_ENST00000449493.2_Splice_Site_p.K5N	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	5					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CAGCATCTAAGGTAAAATGGG	0.368000													10	29					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413576	121413576	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:121413576T>A	ENST00000393667.3	-	13	5904	c.5794A>T	c.(5794-5796)Atg>Ttg	p.M1932L	GOLGB1_ENST00000340645.5_Missense_Mutation_p.M1927L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1927					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AATTGATTCATAAGCCTCTCT	0.363000													49	71					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47899078	47899078	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:47899078G>A	ENST00000503935.2	+	11	1880	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	KAT7_ENST00000259021.4_Missense_Mutation_p.V438M|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000510819.1_Missense_Mutation_p.V269M|KAT7_ENST00000435742.2_Missense_Mutation_p.V252M|KAT7_ENST00000424009.2_Missense_Mutation_p.V408M|KAT7_ENST00000454930.2_Missense_Mutation_p.V299M|KAT7_ENST00000509773.1_Missense_Mutation_p.V328M			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	438					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V438L(1)									ATATTATGATGTGGAGCCCTT	0.448000													37	59					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44905697	44905697	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:44905697C>T	ENST00000261866.7	-	17	3092	c.3076G>A	c.(3076-3078)Gag>Aag	p.E1026K	SPG11_ENST00000558319.1_Missense_Mutation_p.E1026K|SPG11_ENST00000427534.2_Missense_Mutation_p.E1026K|SPG11_ENST00000535302.2_Missense_Mutation_p.E1026K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1026					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCATGTAACTCTTTTTTTTCC	0.328000													25	32					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10602915	10602915	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:10602915G>A	ENST00000171111.5	-	3	1210	c.663C>T	c.(661-663)ttC>ttT	p.F221F	KEAP1_ENST00000393623.2_Silent_p.F221F|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	221	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GGGACAGGTTGAAGAACTCCT	0.612000													19	20					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56343605	56343605	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:56343605G>C	ENST00000262290.4	+	11	1927	c.1611G>C	c.(1609-1611)aaG>aaC	p.K537N	LPO_ENST00000543544.1_Missense_Mutation_p.K478N|LPO_ENST00000421678.2_Missense_Mutation_p.K454N|LPO_ENST00000582328.1_Missense_Mutation_p.K454N	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	537					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGCGCAACAAGCTTTTCCAGC	0.537000													32	41					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121868273	121868273	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:121868273C>T	ENST00000377069.4	-	22	4029		c.e22-1		RNF34_ENST00000392464.2_Silent_p.V500V|KDM2B_ENST00000542973.1_Splice_Site|KDM2B_ENST00000536437.1_Splice_Site|KDM2B_ENST00000377071.4_Splice_Site	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B						embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTATTGCAGTCTGCAGAGAAG	0.537000													13	73					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49418419	49418419	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:49418419T>C	ENST00000301067.7	-	50	15993	c.15994A>G	c.(15994-15996)Atg>Gtg	p.M5332V		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGTTGATCATGAGTGGCAGC	0.552000													16	16					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128193480	128193480	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:128193480G>A	ENST00000284694.7	-	3	409	c.289C>T	c.(289-291)Cac>Tac	p.H97Y	C10orf90_ENST00000454341.1_Missense_Mutation_p.H97Y|C10orf90_ENST00000544758.1_Missense_Mutation_p.H194Y|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.H50Y|C10orf90_ENST00000392694.1_Missense_Mutation_p.H50Y	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	97										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AATGCTCTGTGAATGTTGACT	0.572000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	34					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118624191	118624191	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:118624191C>T	ENST00000336338.5	-	14	1902	c.1837G>A	c.(1837-1839)Gat>Aat	p.D613N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	613						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)		CCTTTTTCATCAACCTCAGAG	0.448000													8	82					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73076952	73076952	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:73076952C>A	ENST00000263674.3	+	20	6305	c.5955C>A	c.(5953-5955)ttC>ttA	p.F1985L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1985					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGATGGCTTCAACCTGCTCT	0.622000													10	24					0.00010058	0.000103238	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11676326	11676326	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:11676326T>A	ENST00000423059.4	-	2	704	c.453A>T	c.(451-453)gaA>gaT	p.E151D	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTGAATACCTTCTTCCCCCT	0.488000										HNSCC(18;0.044)			5	49					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18343983	18343983	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:18343983C>T	ENST00000355502.3	-	5	890	c.19G>A	c.(19-21)Ggc>Agc	p.G7S	PDE4C_ENST00000594465.3_Missense_Mutation_p.G7S|PDE4C_ENST00000594617.3_Missense_Mutation_p.G7S			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	7					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GCCCCTTCGCCGACCCCCAGG	0.697000													6	2					0	0	1	0	0
FNBP1L	54874	broad.mit.edu	37	1	93998534	93998534	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:93998534G>A	ENST00000260506.8	+	8	846	c.695G>A	c.(694-696)gGa>gAa	p.G232E	FNBP1L_ENST00000370256.4_Missense_Mutation_p.G232E|FNBP1L_ENST00000271234.7_Missense_Mutation_p.G232E|FNBP1L_ENST00000370253.2_Missense_Mutation_p.G232E|FNBP1L_ENST00000604705.1_Missense_Mutation_p.G232E	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	232	Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TGTTACAGAGGATTTGCTGAC	0.333000													3	25					0	0	1	0	0
CARNS1	57571	broad.mit.edu	37	11	67191688	67191688	+	Silent	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:67191688T>C	ENST00000445895.2	+	9	2583	c.2469T>C	c.(2467-2469)cgT>cgC	p.R823R	CARNS1_ENST00000307823.3_Silent_p.R700R|CARNS1_ENST00000423745.2_Silent_p.R700R|CARNS1_ENST00000531040.1_Silent_p.R797R			A5YM72	CRNS1_HUMAN	carnosine synthase 1	700					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						TCTACCTGCGTGATTGGATCC	0.627000													25	78					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171323192	171323192	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:171323192T>C	ENST00000356327.5	-	25	2853	c.2783A>G	c.(2782-2784)tAt>tGt	p.Y928C	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.Y966C	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	966	Catalytic.				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)	GTCATCAAGATAGCCAAGGAC	0.398000													45	70					0	0	1	0	0
C5orf58	133874	broad.mit.edu	37	5	169661980	169661980	+	Splice_Site	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:169661980G>C	ENST00000521850.1	+	2	1752		c.e2-1		C5orf58_ENST00000517575.1_Splice_Site|C5orf58_ENST00000593851.1_Splice_Site			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58											large_intestine(1)|lung(4)|urinary_tract(1)	6						TTTAAAATCAGATGGGTAAGA	0.259000													3	5					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874764	20874764	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:20874764C>T	ENST00000381552.1	+	8	1170	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.P219S|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P268S|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.P150S|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.P268S			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	268					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCCAAAAGATCCCCAGTGGGT	0.388000													24	69					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61965628	61965628	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:61965628A>G	ENST00000280772.2	-	11	1406	c.1215T>C	c.(1213-1215)caT>caC	p.H405H	ANK3_ENST00000373827.2_Silent_p.H399H|ANK3_ENST00000503366.1_Silent_p.H388H	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						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						TGCAGGCAATATGAAGAGGGG	0.408000													22	32					0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48576047	48576047	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:48576047C>T	ENST00000232375.3	-	7	628	c.516G>A	c.(514-516)gtG>gtA	p.V172V	PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000416568.1_Silent_p.V172V|PFKFB4_ENST00000536104.1_Silent_p.V161V|PFKFB4_ENST00000383734.2_Silent_p.V172V|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Silent_p.V138V	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	172	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TGCCCAGTTTCACTTGCTGCC	0.597000													13	25					0	0	1	0	0
GPC2	221914	broad.mit.edu	37	7	99768017	99768017	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:99768017G>A	ENST00000292377.2	-	10	1743	c.1576C>T	c.(1576-1578)Cct>Tct	p.P526S	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	526						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGTATGGAGGCCGAGGAGGC	0.647000													7	20					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144810877	144810877	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:144810877C>T	ENST00000388913.3	-	5	879	c.754G>A	c.(754-756)Gag>Aag	p.E252K		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	252					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGGATCTTCTCAAAGGACCAC	0.657000													27	41					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65186350	65186350	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:65186350C>T	ENST00000358691.5	-	10	845	c.679G>A	c.(679-681)Gag>Aag	p.E227K	HELZ_ENST00000580168.1_Missense_Mutation_p.E227K|HELZ_ENST00000580662.1_5'UTR	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGTTTATTCTCATTTTGCTGT	0.398000													39	49					0	0	1	0	0
RIMKLB	57494	broad.mit.edu	37	12	8866636	8866636	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:8866636G>A	ENST00000357529.3	+	3	1436	c.174G>A	c.(172-174)ctG>ctA	p.L58L	RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000535829.1_Splice_Site_p.L58L|RIMKLB_ENST00000538135.1_Splice_Site_p.L58L	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	58					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AAGGAAACCTGGGTAAGTCTG	0.408000													3	26					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107800883	107800883	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:107800883A>G	ENST00000379028.3	-	31	3991	c.3521T>C	c.(3520-3522)aTg>aCg	p.M1174T	NRCAM_ENST00000379024.4_Missense_Mutation_p.M1062T|NRCAM_ENST00000351718.4_Missense_Mutation_p.M1053T|NRCAM_ENST00000379022.4_Missense_Mutation_p.M1174T|NRCAM_ENST00000425651.2_Missense_Mutation_p.M1174T|NRCAM_ENST00000413765.2_Missense_Mutation_p.M1050T			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1174					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AACAGCACACATCAGACCAAT	0.423000													27	37					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216248801	216248801	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:216248801G>A	ENST00000354785.4	-	30	5205	c.4836C>T	c.(4834-4836)gtC>gtT	p.V1612V	FN1_ENST00000356005.4_Silent_p.V1521V|FN1_ENST00000432072.2_Silent_p.V1612V|FN1_ENST00000323926.6_Silent_p.V1612V|FN1_ENST00000421182.1_Silent_p.V1521V|FN1_ENST00000336916.4_Silent_p.V1521V|FN1_ENST00000359671.1_Silent_p.V1521V|FN1_ENST00000346544.3_Silent_p.V1521V|FN1_ENST00000357009.2_Silent_p.V1521V|FN1_ENST00000345488.5_Silent_p.V1521V|FN1_ENST00000446046.1_Silent_p.V1521V|FN1_ENST00000443816.1_Silent_p.V1521V|FN1_ENST00000357867.4_Silent_p.V1521V			P02751	FINC_HUMAN	fibronectin 1	1615	Fibronectin type-III 11.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACGGCCAGTGACAGCATACA	0.493000													20	37					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56934756	56934756	+	Silent	SNP	T	T	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:56934756T>G	ENST00000333201.9	+	5	939	c.729T>G	c.(727-729)gtT>gtG	p.V243V	ZNF583_ENST00000291598.7_Silent_p.V243V|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ATGCATGTGTTGAATGTGGGA	0.398000													4	60					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17697096	17697096	+	Missense_Mutation	SNP	G	G	C	rs113303801		TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:17697096G>C	ENST00000353383.1	+	3	1303	c.834G>C	c.(832-834)caG>caC	p.Q278H	RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	278	Gln-rich.|Poly-Gln.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCTATGACcagcagcagcagc	0.637000													4	37					0	0	1	0	0
YIPF4	84272	broad.mit.edu	37	2	32523364	32523364	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:32523364G>C	ENST00000238831.4	+	4	713	c.467G>C	c.(466-468)aGa>aCa	p.R156T		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4							endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					TTACTGGCCAGAGTTCTTGGT	0.318000													18	25					0	0	1	0	0
FLOT2	2319	broad.mit.edu	37	17	27207752	27207752	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:27207752G>A	ENST00000394906.2	-	12	1469	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Silent_p.L409L|FLOT2_ENST00000394908.4_Silent_p.L409L			Q14254	FLOT2_HUMAN	flotillin 2	409					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCACGCCTGTGAGGGCATGCA	0.607000													24	22					0	0	1	0	0
GSDMB	55876	broad.mit.edu	37	17	38066068	38066068	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:38066068C>A	ENST00000394175.2	-	3	740	c.517G>T	c.(517-519)Gac>Tac	p.D173Y	GSDMB_ENST00000360317.3_Missense_Mutation_p.D173Y|GSDMB_ENST00000394179.1_Missense_Mutation_p.D173Y|GSDMB_ENST00000309481.7_Missense_Mutation_p.D173Y|GSDMB_ENST00000520542.1_Missense_Mutation_p.D173Y|GSDMB_ENST00000418519.1_Missense_Mutation_p.D173Y	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	173						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TATTGCCGGTCGCTTTTCAGG	0.478000													6	143					0.00116845	0.00118713	1	1	0
BPIFB4	149954	broad.mit.edu	37	20	31685555	31685555	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr20:31685555C>T	ENST00000375483.3	+	11	1531	c.1531C>T	c.(1531-1533)Ccc>Tcc	p.P511S		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	511						cytoplasm|extracellular region	lipid binding										GGTCTCCCAGCCCAAAGACCT	0.572000													7	32					0	0	1	0	0
BRE	9577	broad.mit.edu	37	2	28467646	28467646	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:28467646G>A	ENST00000344773.2	+	10	989		c.e10-1		BRE_ENST00000379632.2_Splice_Site|BRE_ENST00000361704.2_Splice_Site|BRE_ENST00000379624.1_Splice_Site|BRE_ENST00000342045.2_Splice_Site	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)						apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTATTACTTAGAGGTGTCGTG	0.333000													17	47					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162335224	162335224	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:162335224G>A	ENST00000493151.1	+	1	2452	c.85G>A	c.(85-87)Gag>Aag	p.E29K	RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.E10K|NOS1AP_ENST00000361897.5_Missense_Mutation_p.E324K|NOS1AP_ENST00000530878.1_Missense_Mutation_p.E319K	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	324	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GTTGGCTGCTGAGGCTGCGGC	0.582000													9	77					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71050152	71050152	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:71050152T>A	ENST00000318789.4	-	13	1558	c.1033A>T	c.(1033-1035)Atg>Ttg	p.M345L	FOXP1_ENST00000498215.1_Missense_Mutation_p.M345L|FOXP1_ENST00000491238.1_Missense_Mutation_p.M347L|FOXP1_ENST00000484350.1_Missense_Mutation_p.M269L|FOXP1_ENST00000475937.1_Missense_Mutation_p.M345L|FOXP1_ENST00000468577.1_Missense_Mutation_p.M345L|FOXP1_ENST00000493089.1_Missense_Mutation_p.M345L	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	345					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ACAACCTGCATTTGTACTCTA	0.373000			T	PAX5	ALL								9	48					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20308306	20308306	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:20308306G>A	ENST00000335117.8	+	4	844	c.787G>A	c.(787-789)Gag>Aag	p.E263K	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TCATAGTGGAGAGAAACCCTA	0.373000													16	47					0	0	1	0	0
FADD	8772	broad.mit.edu	37	11	70052282	70052282	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:70052282A>G	ENST00000301838.4	+	2	627	c.330A>G	c.(328-330)aaA>aaG	p.K110K		NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	110	Death.				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ATGTGGGGAAAGATTGGAGAA	0.512000													4	22					0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7950075	7950075	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:7950075A>G	ENST00000309838.2	-	1	134	c.135T>C	c.(133-135)atT>atC	p.I45I		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGATGACTATAATAATGGCAT	0.468000													28	37					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140278603	140278603	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:140278603A>G	ENST00000296543.5	+	11	1474	c.1151A>G	c.(1150-1152)tAt>tGt	p.Y384C	NAA15_ENST00000398947.1_Missense_Mutation_p.Y384C	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	384					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GCACAACATTATGACAAAATT	0.393000													9	30					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746948	158746948	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:158746948C>A	ENST00000339258.1	-	1	477	c.478G>T	c.(478-480)Gtc>Ttc	p.V160F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GCAAGGATGACCTCAGAAATG	0.498000													10	84					2.17888e-05	2.25635e-05	1	1	0
HSPA1A	3303	broad.mit.edu	37	6	31785456	31785456	+	Silent	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:31785456T>C	ENST00000375651.5	+	1	2166	c.1923T>C	c.(1921-1923)gaT>gaC	p.D641D	HSPA1A_ENST00000608703.1_Silent_p.D476D|HSPA1A_ENST00000458062.2_Silent_p.D550D	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	641					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			endometrium(1)|ovary(1)|stomach(1)	3						AGGAGGTAGATTAGGGGCCTT	0.537000													10	37					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17150311	17150311	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr21:17150311G>A	ENST00000285681.2	+	4	726	c.357G>A	c.(355-357)gaG>gaA	p.E119E	USP25_ENST00000547201.1_3'UTR|USP25_ENST00000285679.6_Silent_p.E119E|USP25_ENST00000351097.5_Silent_p.E119E|USP25_ENST00000400183.2_Silent_p.E119E	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	119					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CATTCAGGGAGACTGGAATAA	0.353000													6	35					0	0	1	0	0
CEP55	55165	broad.mit.edu	37	10	95276705	95276705	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:95276705A>G	ENST00000371485.3	+	6	997	c.693A>G	c.(691-693)gaA>gaG	p.E231E		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	231	Interaction with TSG101.				cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				ATCTTCAAGAAGAGAAGCAGA	0.333000													26	12					0	0	1	0	0
EIF2B4	8890	broad.mit.edu	37	2	27587642	27587642	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:27587642C>T	ENST00000493344.2	-	11	1690	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	EIF2B4_ENST00000451130.2_Missense_Mutation_p.E459K|AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000347454.4_Missense_Mutation_p.E439K|EIF2B4_ENST00000445933.2_Missense_Mutation_p.E438K			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	439					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTATGTTTCACAGCAAACC	0.512000													29	66					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46322330	46322330	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:46322330A>G	ENST00000465950.1	-	1	1418	c.209T>C	c.(208-210)tTa>tCa	p.L70S	SCAF11_ENST00000369367.3_Missense_Mutation_p.L385S|SCAF11_ENST00000549162.1_Missense_Mutation_p.L193S|SCAF11_ENST00000419565.2_Missense_Mutation_p.L385S			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	385					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CTTTTTCAGTAAAGGTGGTTT	0.418000													22	40					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99452629	99452629	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr13:99452629C>T	ENST00000376460.1	-	53	5951	c.5871G>A	c.(5869-5871)aaG>aaA	p.K1957K	DOCK9_ENST00000339416.2_Silent_p.K1944K	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1958	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTCCGCCACCTTCTTACTCA	0.572000													6	8					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677948	37677948	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:37677948C>A	ENST00000532828.2	-	5	742	c.491G>T	c.(490-492)gGg>gTg	p.G164V	ZNF585B_ENST00000531805.1_Missense_Mutation_p.G109V|ZNF585B_ENST00000527838.1_Intron|ZNF585B_ENST00000312908.5_Intron|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAAGCCCTCCCACATTCAAT	0.398000													6	194					0.00116845	0.00118713	1	1	0
KCTD11	147040	broad.mit.edu	37	17	7256866	7256866	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:7256866G>A	ENST00000333751.3	+	1	1659	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	202					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				GAGGTGCTGCGGGTGGCTCTC	0.662000													5	27					0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115624334	115624334	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:115624334A>G	ENST00000265440.7	-	2	342	c.162T>C	c.(160-162)gaT>gaC	p.D54D	TFEC_ENST00000484212.1_Silent_p.D144D|TFEC_ENST00000320239.7_Silent_p.D54D|TFEC_ENST00000393485.1_Silent_p.D54D	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	54	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GTGCATTGTCATCTTCTTTCC	0.398000													49	143					0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32622963	32622963	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:32622963G>T	ENST00000373625.3	+	4	341	c.248G>T	c.(247-249)aGa>aTa	p.R83I	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.R88I|KPNA6_ENST00000537234.1_Missense_Mutation_p.R80I	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	83					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GTGATCACAAGAGAGATGGTG	0.438000													8	29					7.48243e-07	7.8063e-07	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228431121	228431121	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:228431121C>T	ENST00000570156.2	+	11	3517	c.3443C>T	c.(3442-3444)gCc>gTc	p.A1148V	OBSCN_ENST00000284548.11_Missense_Mutation_p.A1056V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1056V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	84	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTGCGAGGCCAGGGGCCAG	0.552000													7	33					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25919603	25919603	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:25919603G>A	ENST00000398988.3	+	10	1284	c.839G>A	c.(838-840)aGa>aAa	p.R280K	KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000268763.6_Missense_Mutation_p.R280K|KSR1_ENST00000319524.6_Missense_Mutation_p.R417K|KSR1_ENST00000509603.2_Missense_Mutation_p.R417K	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	415					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCGGTGGACAGAGCAGCCGAA	0.552000													15	13					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23099153	23099153	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:23099153A>G	ENST00000219689.7	-	8	1418	c.1419T>C	c.(1417-1419)ttT>ttC	p.F473F		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	473					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AAGGCAGTCCAAATCTAACAC	0.378000													18	15					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42566696	42566696	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:42566696C>T	ENST00000262895.3	-	4	451	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	GRIK5_ENST00000593562.1_Missense_Mutation_p.R151Q|GRIK5_ENST00000301218.4_Missense_Mutation_p.R151Q	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	151						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTTGAGGATTCGGGAGACCGC	0.577000													44	43					0	0	1	0	0
ATL2	64225	broad.mit.edu	37	2	38604302	38604302	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:38604302G>A	ENST00000378954.4	-	1	102	c.101C>T	c.(100-102)tCg>tTg	p.S34L	ATL2_ENST00000419554.2_Missense_Mutation_p.S34L|ATL2_ENST00000539122.1_5'UTR|ATL2_ENST00000406122.1_5'UTR	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	34					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						GGTCGTGGACGAGACGTGGTT	0.746000													4	21					0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816074	6816074	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:6816074A>G	ENST00000332601.3	-	1	1054	c.866T>C	c.(865-867)tTg>tCg	p.L289S		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGGATTGAGCAATGGTACAAT	0.483000													36	31					0	0	1	0	0
ACVR2A	92	broad.mit.edu	37	2	148672795	148672795	+	Silent	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:148672795T>C	ENST00000241416.7	+	5	1200	c.564T>C	c.(562-564)ggT>ggC	p.G188G	ACVR2A_ENST00000404590.1_Silent_p.G188G|ACVR2A_ENST00000535787.1_Silent_p.G80G	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	188					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CATTACTAGGTTTGAAACCAC	0.393000													74	31					0	0	1	0	0
POLR2H	5437	broad.mit.edu	37	3	184086072	184086072	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:184086072T>C	ENST00000456318.1	+	6	1492	c.443T>C	c.(442-444)cTa>cCa	p.L148P	POLR2H_ENST00000430783.1_Missense_Mutation_p.L120P|POLR2H_ENST00000438240.1_Missense_Mutation_p.L112P|POLR2H_ENST00000443489.1_Missense_Mutation_p.L84P|POLR2H_ENST00000429568.1_Silent_p.A169A|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000452961.1_Missense_Mutation_p.L112P|POLR2H_ENST00000296223.3_Missense_Mutation_p.L148P	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	148					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGAAGAAGCTAGCCTTCTGA	0.557000													21	69					0	0	1	0	0
RELL2	285613	broad.mit.edu	37	5	141019656	141019656	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:141019656G>A	ENST00000297164.3	+	5	1873	c.673G>A	c.(673-675)Gag>Aag	p.E225K	RELL2_ENST00000444782.1_Missense_Mutation_p.E225K|RELL2_ENST00000518856.1_Missense_Mutation_p.E159K|RELL2_ENST00000518025.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000521367.1_Missense_Mutation_p.E159K	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	225						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCCCCCTGAGAGGCCACA	0.677000													3	24					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124007358	124007358	+	Silent	SNP	T	T	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:124007358T>A	ENST00000456829.2	+	14	1853	c.1602T>A	c.(1600-1602)ccT>ccA	p.P534P	VWA5A_ENST00000392748.1_Silent_p.P534P|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	534										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TGACATTTCCTCTACAACCCA	0.443000													10	60					0	0	1	0	0
FBXO41	150726	broad.mit.edu	37	2	73495884	73495884	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:73495884T>A	ENST00000521871.1	-	2	1290	c.875A>T	c.(874-876)cAc>cTc	p.H292L	FBXO41_ENST00000520530.2_Missense_Mutation_p.H292L|FBXO41_ENST00000295133.5_Missense_Mutation_p.H353L			Q8TF61	FBX41_HUMAN	F-box protein 41	292						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CTGTTCCTTGTGCACCAGGTC	0.657000													5	8					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104728345	104728345	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrX:104728345G>T	ENST00000372582.1	+	6	1494	c.738G>T	c.(736-738)atG>atT	p.M246I	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.M246I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	246	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTTCCCCATGGAGAATCAGC	0.413000													39	18					4.67007e-22	5.0454e-22	1	1	0
DPH7	92715	broad.mit.edu	37	9	140469295	140469295	+	Splice_Site	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:140469295T>C	ENST00000277540.2	-	4	533	c.376A>G	c.(376-378)Aag>Gag	p.K126E	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		ACGTGGCTCTTCTACTGGAGA	0.537000													33	37					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101174641	101174641	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:101174641G>A	ENST00000388798.2	+	2	324	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	SPAG1_ENST00000520643.1_Missense_Mutation_p.V45M|SPAG1_ENST00000520508.1_Missense_Mutation_p.V45M|SPAG1_ENST00000251809.3_Missense_Mutation_p.V45M	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	45					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AATTCTTTGCGTGCTCAGGTA	0.279000													27	40					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38081520	38081520	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr21:38081520C>T	ENST00000290399.6	+	2	841	c.228C>T	c.(226-228)gtC>gtT	p.V76V	SIM2_ENST00000430056.3_Silent_p.V76V|SIM2_ENST00000460783.1_3'UTR	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	76					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TGGACGGCGTCGCCAAGGAGC	0.711000													4	3					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40061783	40061783	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:40061783T>A	ENST00000352035.2	-	9	1125	c.995A>T	c.(994-996)cAc>cTc	p.H332L	ACLY_ENST00000590151.1_Missense_Mutation_p.H332L|ACLY_ENST00000353196.1_Missense_Mutation_p.H332L|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Missense_Mutation_p.H332L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	332					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ACCATCTGGGTGCTTCTCTCG	0.567000													21	40					0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137613027	137613027	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:137613027G>A	ENST00000330387.6	-	2	539	c.188C>T	c.(187-189)tCa>tTa	p.S63L	CREB3L2_ENST00000452463.1_Missense_Mutation_p.S63L|CREB3L2_ENST00000456390.1_Missense_Mutation_p.S63L|CREB3L2_ENST00000458726.1_5'UTR	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	63					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CACCTCCATTGACACACTCTT	0.562000			T	FUS	fibromyxoid sarcoma								21	70					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102549998	102549998	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:102549998C>T	ENST00000334701.7	-	9	2018	c.1737G>A	c.(1735-1737)aaG>aaA	p.K579K	HSP90AA1_ENST00000216281.8_Silent_p.K457K|HSP90AA1_ENST00000441629.2_Silent_p.K278K	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	457					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CTGAAAGCTTCTTCCGATTTT	0.373000													11	55					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197654057	197654057	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:197654057C>T	ENST00000263956.3	-	6	853	c.764G>A	c.(763-765)tGg>tAg	p.W255*	GTF3C3_ENST00000409364.3_Nonsense_Mutation_p.W255*|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	255						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGATCGCTCCCACAGATAACG	0.398000													4	36					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31023909	31023909	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr20:31023909G>A	ENST00000375687.4	+	13	3818	c.3394G>A	c.(3394-3396)Gaa>Aaa	p.E1132K	ASXL1_ENST00000306058.5_Missense_Mutation_p.E1127K	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1132					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAGCATGTCAGAATCCCCACA	0.517000			"""F, N, Mis"""		"""MDS, CMML"""								15	47					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904352	73904352	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:73904352A>G	ENST00000342056.2	+	15	2469	c.2071A>G	c.(2071-2073)Aac>Gac	p.N691D	KCNQ5_ENST00000403813.2_Missense_Mutation_p.N663D|KCNQ5_ENST00000402622.2_Missense_Mutation_p.N682D|KCNQ5_ENST00000355635.3_Missense_Mutation_p.N673D|KCNQ5_ENST00000370398.1_Missense_Mutation_p.N672D|KCNQ5_ENST00000414165.2_Missense_Mutation_p.N562D|KCNQ5_ENST00000355194.4_Missense_Mutation_p.N672D	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	672					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTCCGCACAAAACAGTGGCTG	0.488000													13	61					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31476267	31476267	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:31476267G>T	ENST00000457010.2	+	4	2624	c.1923G>T	c.(1921-1923)atG>atT	p.M641I	ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000563544.1_Intron|ARMC5_ENST00000538189.1_Intron	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	447							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCTCCCCCATGGCTTCCATGG	0.662000													7	29					5.18039e-06	5.38053e-06	1	1	0
C17orf82	388407	broad.mit.edu	37	17	59489466	59489466	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:59489466G>A	ENST00000335108.2	+	1	355	c.130G>A	c.(130-132)Gag>Aag	p.E44K		NM_203425.1	NP_982249	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	44										cervix(1)|lung(1)	2						CCTTGGCCCCGAGGTGCGGAG	0.701000											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	12					0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29207676	29207676	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:29207676C>T	ENST00000240100.2	-	1	509	c.120G>A	c.(118-120)ccG>ccA	p.P40P		NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	40					endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		TGCCGCCGCTCGGCAGCCCCA	0.672000													4	8					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24896321	24896321	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:24896321C>G	ENST00000405141.1	+	8	1054	c.343C>G	c.(343-345)Ctt>Gtt	p.L115V	NCOA1_ENST00000348332.3_Missense_Mutation_p.L115V|NCOA1_ENST00000406961.1_Missense_Mutation_p.L115V|NCOA1_ENST00000288599.5_Missense_Mutation_p.L115V|NCOA1_ENST00000538539.1_Missense_Mutation_p.L115V|NCOA1_ENST00000395856.3_Missense_Mutation_p.L115V|NCOA1_ENST00000407230.1_5'UTR			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	115	PAS.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGGGACCTCTTCTTTTGGA	0.343000			T	PAX3	alveolar rhadomyosarcoma								16	76					0	0	1	0	0
RABL6	55684	broad.mit.edu	37	9	139726191	139726191	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:139726191C>T	ENST00000371675.3	+	6	1017	c.132C>T	c.(130-132)ctC>ctT	p.L44L	RABL6_ENST00000371663.4_Silent_p.L159L|RABL6_ENST00000311502.7_Silent_p.L159L|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000371671.4_Silent_p.L159L|RABL6_ENST00000357466.2_Silent_p.L159L|RABL6_ENST00000432842.2_Silent_p.L121L					RAB, member RAS oncogene family-like 6																		ATTACATTCTCCGGGAGCTTC	0.622000													13	63					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081719	152081719	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:152081719C>G	ENST00000368804.1	-	2	3973	c.3974G>C	c.(3973-3975)aGa>aCa	p.R1325T		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1325	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTCTTCTCTTTCCTCTCT	0.547000													17	212					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270004	36270004	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:36270004C>T	ENST00000394571.2	+	6	1142	c.1142C>T	c.(1141-1143)cCc>cTc	p.P381L	PNPLA1_ENST00000312917.5_Missense_Mutation_p.P295L|PNPLA1_ENST00000388715.3_Missense_Mutation_p.P286L	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	381	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CACAAGCCACCCAGCTCCACA	0.577000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	68					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132063860	132063860	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:132063860C>T	ENST00000336375.5	+	7	828	c.738C>T	c.(736-738)ctC>ctT	p.L246L	ACPP_ENST00000351273.7_Silent_p.L246L|ACPP_ENST00000475741.1_Silent_p.L213L	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	246						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TCCTGTCCCTCTATGGAATTC	0.433000													25	30					0	0	1	0	0
ERAP1	51752	broad.mit.edu	37	5	96132899	96132899	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:96132899C>T	ENST00000296754.3	-	4	1034	c.777G>A	c.(775-777)aaG>aaA	p.K259K	ERAP1_ENST00000443439.2_Silent_p.K259K	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	259					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TCTTGGTTATCTTGCTGACAG	0.443000													20	33					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48273851	48273851	+	Silent	SNP	A	A	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:48273851A>T	ENST00000225964.5	-	13	1015	c.897T>A	c.(895-897)ggT>ggA	p.G299G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	299	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCACCATCTGACCAGGAGCTC	0.567000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						22	61					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66937064	66937064	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:66937064T>C	ENST00000269080.2	-	3	273	c.136A>G	c.(136-138)Ata>Gta	p.I46V	ABCA8_ENST00000586539.1_Missense_Mutation_p.I46V|ABCA8_ENST00000430352.2_Missense_Mutation_p.I46V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	46						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGAGGATATATATACAAACAA	0.313000													13	38					0	0	1	0	0
BTRC	8945	broad.mit.edu	37	10	103281473	103281473	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:103281473G>A	ENST00000370187.3	+	5	520	c.402G>A	c.(400-402)aaG>aaA	p.K134K	BTRC_ENST00000393441.4_Silent_p.K93K|BTRC_ENST00000408038.2_Silent_p.K98K	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	134	Homodimerization domain D.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		p.K134N(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AAAAGGAAAAGGAACTGTGTG	0.418000													12	30					0	0	1	0	0
SLC36A1	206358	broad.mit.edu	37	5	150838432	150838432	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:150838432G>A	ENST00000243389.3	+	2	302	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	SLC36A1_ENST00000520701.1_Missense_Mutation_p.E27K|SLC36A1_ENST00000521351.1_3'UTR|SLC36A1_ENST00000429484.2_Missense_Mutation_p.E27K|SLC36A1_ENST00000521925.1_Missense_Mutation_p.E27K	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	27					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	GAGCCCGTCGGAAGGCCTCAA	0.597000													5	38					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152589235	152589235	+	Missense_Mutation	SNP	C	C	G	rs112539022		TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:152589235C>G	ENST00000367255.5	-	100	19372	c.18771G>C	c.(18769-18771)gaG>gaC	p.E6257D	SYNE1_ENST00000448038.1_Missense_Mutation_p.E6186D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E6257D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E5869D|SYNE1_ENST00000356820.4_Missense_Mutation_p.E781D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E6186D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6257					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)		GAATTAGAATCTCCTCTCCAC	0.458000										HNSCC(10;0.0054)			19	24					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102294714	102294714	+	RNA	SNP	A	A	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:102294714A>T	ENST00000561463.1	+	0	2760																											GAGCAGGCAGACCAAGGAGTT	0.592000													4	19					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47162815	47162815	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:47162815T>C	ENST00000409792.3	-	3	3353	c.3311A>G	c.(3310-3312)gAg>gGg	p.E1104G		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTCCAATCTCTCATCTTCCCA	0.383000			"""N, F, S, Mis"""		clear cell renal carcinoma								12	67					0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160636585	160636585	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:160636585T>C	ENST00000504764.1	-	37	5350	c.5323A>G	c.(5323-5325)Aag>Gag	p.K1775E	CD302_ENST00000480212.1_5'UTR|LY75_ENST00000553424.1_Missense_Mutation_p.K1719E|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.K1719E|LY75_ENST00000554112.1_Missense_Mutation_p.K1775E|CD302_ENST00000259053.4_Missense_Mutation_p.K134E|CD302_ENST00000429078.2_Intron	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN		1641					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TCACCTGTCTTGATGTGCAGA	0.373000													6	32					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431699	56431699	+	Missense_Mutation	SNP	G	G	A	rs138342920		TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:56431699G>A	ENST00000302969.2	+	1	562	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E180K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TTTCTTCTGCGAAATCCCACC	0.483000													10	96					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679488	100679488	+	Silent	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:100679488T>C	ENST00000306151.4	+	3	4855	c.4791T>C	c.(4789-4791)ccT>ccC	p.P1597P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1597	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACAACCCCTATTGACTCCA	0.473000													114	167					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15760796	15760796	+	Silent	SNP	C	C	T	rs143130734	byFrequency	TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:15760796C>T	ENST00000378076.3	-	2	665	c.312G>A	c.(310-312)gcG>gcA	p.A104A		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	104					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCCTGCACTGCGCAGACCCCT	0.602000													17	78					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40916776	40916776	+	Silent	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:40916776T>C	ENST00000346991.5	+	11	4782	c.4392T>C	c.(4390-4392)taT>taC	p.Y1464Y	CASC5_ENST00000399668.2_Silent_p.Y1438Y			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1464					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ATGACATTTATGTTATTCCTC	0.353000													32	24					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31655170	31655170	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr22:31655170G>A	ENST00000331728.4	+	4	430	c.316G>A	c.(316-318)Gag>Aag	p.E106K	LIMK2_ENST00000333611.4_Missense_Mutation_p.E85K|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000340552.4_Missense_Mutation_p.E85K|LIMK2_ENST00000406516.1_Missense_Mutation_p.E28K	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	106	LIM zinc-binding 2.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GGTGATCATTGAGGATGGGGA	0.542000													18	9					0	0	1	0	0
SDS	10993	broad.mit.edu	37	12	113830899	113830899	+	Silent	SNP	A	A	G	rs147130309		TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:113830899A>G	ENST00000257549.4	-	8	956	c.834T>C	c.(832-834)taT>taC	p.Y278Y		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	278					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCACGTGGCTATAGACAGCGG	0.647000													53	63					0	0	1	0	0
PRG2	5553	broad.mit.edu	37	11	57156097	57156097	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:57156097C>T	ENST00000311862.5	-	4	524	c.451G>A	c.(451-453)Gcg>Acg	p.A151T	PRG2_ENST00000525955.1_Missense_Mutation_p.A151T|PRG2_ENST00000533605.1_Missense_Mutation_p.A140T	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)		TGGTTGAGCGCGCTGACAGAA	0.507000													38	133					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31602666	31602666	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:31602666C>T	ENST00000376033.2	+	21	5306	c.5072C>T	c.(5071-5073)tCa>tTa	p.S1691L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.S1691L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1691	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGAGGCTCCTCACCCCTGAAT	0.602000													20	56					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6202515	6202515	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:6202515T>C	ENST00000262450.3	-	14	2293	c.2194A>G	c.(2194-2196)Acg>Gcg	p.T732A	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	732	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTCTGCACCGTCTTGCCCAGA	0.652000													12	24					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96305554	96305554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:96305554C>T	ENST00000277165.6	+	11	2154	c.1960C>T	c.(1960-1962)Caa>Taa	p.Q654*	FAM120A_ENST00000333936.5_Nonsense_Mutation_p.Q682*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.Q654*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	654						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AAAGTCTCCTCAAACCCCGGA	0.498000													25	86					0	0	1	0	0
COX5A	9377	broad.mit.edu	37	15	75219172	75219172	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:75219172C>T	ENST00000322347.6	-	3	427	c.274G>A	c.(274-276)Gct>Act	p.A92T	COX5A_ENST00000567270.1_Missense_Mutation_p.A53T|COX5A_ENST00000568517.1_Missense_Mutation_p.A11T|COX5A_ENST00000564811.1_Missense_Mutation_p.A92T|COX5A_ENST00000562233.1_Intron|COX5A_ENST00000568783.1_Missense_Mutation_p.A92T	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va	92					respiratory electron transport chain	mitochondrial inner membrane	cytochrome-c oxidase activity|electron carrier activity|metal ion binding			endometrium(1)|large_intestine(1)|pancreas(1)	3						GCCCGCAAAGCAGCATCAATG	0.398000													5	39					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26502082	26502082	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:26502082G>A	ENST00000244513.6	+	2	410	c.344G>A	c.(343-345)aGa>aAa	p.R115K		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	115	Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CGTGGCGTCAGAGTCTCTGAC	0.627000													3	30					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31216887	31216887	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr13:31216887C>T	ENST00000255304.4	+	6	1447	c.1105C>T	c.(1105-1107)Caa>Taa	p.Q369*		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	369					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		ACACCAATATCAAAACAGGTT	0.373000													30	103					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587654	247587654	+	Silent	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:247587654C>A	ENST00000366497.2	+	4	1689	c.909C>A	c.(907-909)ggC>ggA	p.G303G	NLRP3_ENST00000366496.2_Silent_p.G303G|NLRP3_ENST00000336119.3_Silent_p.G303G|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.G303G|NLRP3_ENST00000348069.2_Silent_p.G303G|NLRP3_ENST00000391827.2_Silent_p.G303G	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	303	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCATGGACGGCTTCGATGAGC	0.587000													17	94					5.3912e-06	5.59117e-06	1	1	0
CYP1A2	1544	broad.mit.edu	37	15	75042168	75042168	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:75042168G>A	ENST00000343932.4	+	2	152	c.89G>A	c.(88-90)gGt>gAt	p.G30D		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	30					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)	GTGCTCAAGGGTTTGAGGCCT	0.602000													21	114					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799107	212799107	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:212799107G>A	ENST00000294829.3	+	1	1319	c.888G>A	c.(886-888)ttG>ttA	p.L296L	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	296	Ala-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		cagGTGCCTTGAGTGTGGCAG	0.617000													27	7					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153921078	153921078	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:153921078G>C	ENST00000368633.1	-	13	1844	c.1717C>G	c.(1717-1719)Ctg>Gtg	p.L573V	CRTC2_ENST00000368630.3_Missense_Mutation_p.L253V	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	573					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGGGATCCAGCACCAGGCTG	0.542000													8	100					0	0	1	0	0
C19orf47	126526	broad.mit.edu	37	19	40827846	40827846	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:40827846C>T	ENST00000582783.1	-	9	1224	c.1212G>A	c.(1210-1212)caG>caA	p.Q404Q	C19orf47_ENST00000392035.2_Silent_p.Q337Q|C19orf47_ENST00000584868.1_Intron	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	404										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CGTGGTCCATCTGGGCACCAA	0.652000													20	17					0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27838103	27838103	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:27838103C>T	ENST00000355467.4	+	11	1283	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_Silent_p.I371I|ZNF512_ENST00000379717.1_Silent_p.I399I|ZNF512_ENST00000556601.1_Silent_p.I269I|ZNF512_ENST00000413371.2_Silent_p.I323I	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGACAGATATCAAGAAATATC	0.363000													32	64					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52946458	52946458	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:52946458T>C	ENST00000267119.5	-	1	473	c.404A>G	c.(403-405)aAg>aGg	p.K135R		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	135	Coil 1A.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GTTCAGAGCCTTGATCTGCTC	0.567000													35	57					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24989249	24989249	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:24989249A>G	ENST00000323848.9	+	12	1897	c.1582A>G	c.(1582-1584)Agt>Ggt	p.S528G	SRRM1_ENST00000374389.4_Missense_Mutation_p.S523G|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.S526G	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	528	Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCTTCCCGGAGTGCTTCTCC	0.502000													5	55					0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17436060	17436060	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:17436060C>T	ENST00000159087.4	-	17	2955	c.2797G>A	c.(2797-2799)Gag>Aag	p.E933K		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	933						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CCAGAGCCCTCGGCCCTCGCC	0.721000													17	31					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123202445	123202445	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrX:123202445G>A	ENST00000371160.1	+	24	2587	c.2297G>A	c.(2296-2298)aGa>aAa	p.R766K	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.R766K|STAG2_ENST00000218089.9_Missense_Mutation_p.R766K|STAG2_ENST00000371157.3_Missense_Mutation_p.R766K|STAG2_ENST00000371145.3_Missense_Mutation_p.R766K|STAG2_ENST00000354548.5_Missense_Mutation_p.R697K	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	766					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AAACAAATGAGAGTATTTTGT	0.279000													60	36					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100479013	100479013	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:100479013A>G	ENST00000388793.4	+	3	450	c.230A>G	c.(229-231)cAg>cGg	p.Q77R	SRRT_ENST00000457580.2_Missense_Mutation_p.Q77R|SRRT_ENST00000347433.4_Missense_Mutation_p.Q77R|SRRT_ENST00000432932.1_Missense_Mutation_p.Q77R	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	77	Arg-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGCCCGCCACAGAAGCGCATG	0.632000													31	32					0	0	1	0	0
CCDC36	339834	broad.mit.edu	37	3	49293807	49293807	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:49293807A>G	ENST00000438782.1	+	8	1113	c.877A>G	c.(877-879)Aaa>Gaa	p.K293E	CCDC36_ENST00000296449.5_Missense_Mutation_p.K293E|CCDC36_ENST00000452691.2_Missense_Mutation_p.K293E			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	293										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CACCTCTGAGAAACCAGTTTT	0.532000													22	23					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13345768	13345768	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:13345768C>T	ENST00000360228.5	-	34	5215	c.5216G>A	c.(5215-5217)cGg>cAg	p.R1739Q	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1740Q|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1740					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GAAGAAGGTCCGGAAGTTATT	0.522000											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	86					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19316750	19316750	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:19316750T>G	ENST00000380432.2	+	8	1045	c.1012T>G	c.(1012-1014)Tta>Gta	p.L338V	DENND4C_ENST00000602925.1_Missense_Mutation_p.L574V|DENND4C_ENST00000434457.2_Missense_Mutation_p.L574V			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	338	dDENN.					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						GGCGTCTATTTTAAAAGGATA	0.413000													80	48					0	0	1	0	0
SBSPON	157869	broad.mit.edu	37	8	74005141	74005141	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:74005141T>G	ENST00000297354.6	-	1	366	c.162A>C	c.(160-162)caA>caC	p.Q54H	SBSPON_ENST00000519697.1_Intron	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	54	SMB.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity										AGCGACAGGCTTGGTCGCAGA	0.716000													12	28					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120567446	120567446	+	Missense_Mutation	SNP	G	G	A	rs144223649	byFrequency	TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:120567446G>A	ENST00000263708.2	+	2	788	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	PTPN4_ENST00000460162.1_3'UTR	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	6						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TCACGTTTCCGATTGCCTGCT	0.393000													4	76					0	0	1	0	0
NNAT	4826	broad.mit.edu	37	20	36150803	36150803	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr20:36150803G>A	ENST00000062104.2	+	2	233	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	BLCAP_ENST00000397131.1_Intron|BLCAP_ENST00000373537.2_Intron|BLCAP_ENST00000397137.1_Intron|NNAT_ENST00000346199.2_Intron|BLCAP_ENST00000414542.2_Intron|BLCAP_ENST00000397135.1_Intron	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN	neuronatin	39					brain development|protein lipoylation|transport					endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				TTCGCTTTTCGAAATCCTCCA	0.483000													23	54					0	0	1	0	0
ALKBH4	54784	broad.mit.edu	37	7	102100147	102100147	+	Silent	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:102100147C>G	ENST00000292566.3	-	2	264	c.225G>C	c.(223-225)ctG>ctC	p.L75L		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	75						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						AGTCCTCGATCAGCATCACTC	0.597000													13	112					0	0	1	0	0
CATSPER3	347732	broad.mit.edu	37	5	134332048	134332048	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:134332048G>T	ENST00000282611.6	+	3	424	c.338G>T	c.(337-339)gGc>gTc	p.G113V		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	113					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGAAGAACGGCTACAACCTG	0.468000													13	49					2.68362e-12	2.85953e-12	1	1	0
HBP1	26959	broad.mit.edu	37	7	106826323	106826323	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:106826323C>T	ENST00000222574.4	+	4	662	c.476C>T	c.(475-477)tCg>tTg	p.S159L	HBP1_ENST00000485846.1_Missense_Mutation_p.S159L|HBP1_ENST00000468410.1_Missense_Mutation_p.S159L	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	159	Poly-Ser.				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TCCTCTTCTTCGAAGAGTGAA	0.408000													62	130					0	0	1	0	0
COX7A2	1347	broad.mit.edu	37	6	75953506	75953506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:75953506C>T	ENST00000370081.2	-	2	351	c.41G>A	c.(40-42)tGg>tAg	p.W14*	COX7A2_ENST00000230459.4_5'UTR|COX7A2_ENST00000509698.1_5'UTR|COX7A2_ENST00000370089.2_Nonsense_Mutation_p.W14*			P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	0						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			kidney(2)|lung(1)	3						CGAAAATGGCCACGCCGGAAC	0.522000													17	53					0	0	1	0	0
IL12A	3592	broad.mit.edu	37	3	159710865	159710865	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:159710865G>A	ENST00000305579.2	+	3	638	c.331G>A	c.(331-333)Gat>Aat	p.D111N	IL12A_ENST00000480787.1_Intron|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000466512.1_Missense_Mutation_p.D111N	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	77					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TATCACAAAAGATAAAACCAG	0.378000													24	64					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888638	38888638	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:38888638G>C	ENST00000302328.3	-	26	5121	c.4923C>G	c.(4921-4923)atC>atG	p.I1641M	SCN11A_ENST00000456224.3_Missense_Mutation_p.I1603M|SCN11A_ENST00000450244.1_Missense_Mutation_p.I1641M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1641					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGAATATTTGATAAATTGTG	0.413000													30	85					0	0	1	0	0
LECT2	3950	broad.mit.edu	37	5	135283058	135283058	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:135283058C>T	ENST00000274507.1	-	4	618	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	LECT2_ENST00000512872.1_Missense_Mutation_p.E68K|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000522943.1_Intron|LECT2_ENST00000471827.1_Intron	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	140					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCACAGTTTTCAATGTGCACA	0.398000													51	85					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182778577	182778577	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:182778577C>T	ENST00000431877.2	+	10	1671	c.1492C>T	c.(1492-1494)Ctg>Ttg	p.L498L	SSFA2_ENST00000409001.1_Silent_p.L498L|SSFA2_ENST00000409136.1_Silent_p.L7L|SSFA2_ENST00000428267.2_Silent_p.L345L|SSFA2_ENST00000320370.7_Silent_p.L498L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	498						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CATAGATCATCTGTTACGTAC	0.333000													9	33					0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69152336	69152336	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:69152336C>T	ENST00000219322.3	+	4	877	c.817C>T	c.(817-819)Cac>Tac	p.H273Y	CHTF8_ENST00000448552.2_3'UTR|CHTF8_ENST00000306585.6_3'UTR|CHTF8_ENST00000518041.1_3'UTR|CHTF8_ENST00000523421.1_3'UTR	NM_138612.2	NP_619515.1	O00219	HAS3_HUMAN	hyaluronan synthase 3	0					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		ATGGTCCGTTCACCAACGCCA	0.547000													5	22					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153735292	153735292	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:153735292C>T	ENST00000456435.1	+	15	2173	c.987C>T	c.(985-987)ttC>ttT	p.F329F	INTS3_ENST00000435409.2_Silent_p.F535F|INTS3_ENST00000512605.1_Silent_p.F329F|INTS3_ENST00000318967.2_Silent_p.F535F|INTS3_ENST00000476843.1_3'UTR			Q68E01	INT3_HUMAN	integrator complex subunit 3	536					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGCAGCCTTCAGTGACGATG	0.502000													34	23					0	0	1	0	0
IPCEF1	26034	broad.mit.edu	37	6	154542425	154542425	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:154542425A>G	ENST00000265198.4	-	7	510	c.355T>C	c.(355-357)Tat>Cat	p.Y119H	IPCEF1_ENST00000367220.4_Missense_Mutation_p.Y120H|IPCEF1_ENST00000519344.1_Missense_Mutation_p.Y91H|IPCEF1_ENST00000422970.2_Missense_Mutation_p.Y120H|OPRM1_ENST00000337049.4_Intron	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						GCTGCAAAATAAAAGGTCTTG	0.383000													12	32					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72039279	72039279	+	Silent	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:72039279G>C	ENST00000355327.3	+	13	2273	c.2139G>C	c.(2137-2139)acG>acC	p.T713T	THSD4_ENST00000357769.4_Silent_p.T353T|THSD4_ENST00000261862.6_Silent_p.T713T|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	713	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCAGCCTGACGGTGCAGCCCT	0.642000													8	21					0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54725924	54725924	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:54725924C>A	ENST00000391750.1	-	5	570	c.434G>T	c.(433-435)gGc>gTc	p.G145V	LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000346401.6_Missense_Mutation_p.G145V|LILRB3_ENST00000407860.2_Missense_Mutation_p.G145V|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000424807.1_Missense_Mutation_p.G145V|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000245620.9_Missense_Mutation_p.G145V			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	145	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTTCTGTGAGCCACATCGGAG	0.592000													11	39					0.00136819	0.00138604	1	1	0
BCL6B	255877	broad.mit.edu	37	17	6927475	6927475	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:6927475G>A	ENST00000293805.5	+	3	345	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	BCL6B_ENST00000572216.1_Intron	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	85	BTB.					nucleus	zinc ion binding			skin(1)	1						CGGGGGTCCCGAAGCGAGAGG	0.597000													84	44					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126314947	126314947	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:126314947C>T	ENST00000525144.2	-	10	1428	c.1179G>A	c.(1177-1179)gcG>gcA	p.A393A	KIRREL3_ENST00000525704.2_Silent_p.A393A|KIRREL3_ENST00000529097.2_Silent_p.A393A	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	393	Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CGTACTTGCCCGCGTCCTCCT	0.642000													8	58					0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18928966	18928966	+	Missense_Mutation	SNP	C	C	T	rs139778740		TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:18928966C>T	ENST00000380534.4	-	4	788	c.509G>A	c.(508-510)aGa>aAa	p.R170K	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_5'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	170										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GTGTGTGGTTCTGTTATCAAA	0.478000													29	26					0	0	1	0	0
ZBTB1	22890	broad.mit.edu	37	14	64990048	64990048	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:64990048A>G	ENST00000358738.3	+	2	2217	c.1826A>G	c.(1825-1827)cAa>cGa	p.Q609R	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000554015.1_Missense_Mutation_p.Q609R|ZBTB1_ENST00000394712.2_Missense_Mutation_p.Q609R	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		TTTGTTTGTCAAACATGTGGA	0.393000													40	45					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155018444	155018444	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:155018444G>A	ENST00000295542.1	+	11	1344	c.1248G>A	c.(1246-1248)caG>caA	p.Q416Q	RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000368419.2_Silent_p.Q416Q|DCST1_ENST00000392480.1_Silent_p.Q416Q|DCST1_ENST00000423025.2_Silent_p.Q391Q	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	416						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACTTCTGCCAGATCGATGACC	0.547000													19	57					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29557315	29557315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:29557315C>T	ENST00000358273.4	+	23	3411	c.3028C>T	c.(3028-3030)Caa>Taa	p.Q1010*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1010*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1010					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCATGCAATTCAAATAAAAAC	0.333000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			19	11					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9577956	9577956	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:9577956C>G	ENST00000310430.6	+	12	1848	c.1822C>G	c.(1822-1824)Cgc>Ggc	p.R608G	TNKS_ENST00000518281.1_Missense_Mutation_p.R371G	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	608					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GCAGACCTGCCGCCTCCTGCT	0.547000													5	36					0	0	1	0	0
APOA5	116519	broad.mit.edu	37	11	116660888	116660888	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:116660888G>A	ENST00000542499.1	-	4	1129	c.1057C>T	c.(1057-1059)Cac>Tac	p.H353Y	APOA5_ENST00000227665.4_Missense_Mutation_p.H353Y	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	353					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	p.H353D(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TGAAGGCTGTGAGTGATGTCT	0.597000													8	15					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266918	41266918	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:41266918G>T	ENST00000349496.5	+	5	869	c.589G>T	c.(589-591)Gct>Tct	p.A197S	CTNNB1_ENST00000396183.3_Missense_Mutation_p.A197S|CTNNB1_ENST00000405570.1_Missense_Mutation_p.A197S|CTNNB1_ENST00000396185.3_Missense_Mutation_p.A197S|CTNNB1_ENST00000453024.1_Missense_Mutation_p.A190S	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	197					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GATGGTGTCTGCTATTGTACG	0.463000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				5	21					0.014758	0.0148429	1	1	0
PZP	5858	broad.mit.edu	37	12	9346780	9346780	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:9346780A>G	ENST00000261336.2	-	11	1175	c.1147T>C	c.(1147-1149)Tct>Cct	p.S383P	PZP_ENST00000381997.2_Missense_Mutation_p.S252P	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCATTCACAGAGATGAAGAAG	0.408000													15	76					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186548048	186548048	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:186548048G>A	ENST00000431808.1	-	13	1423	c.860C>T	c.(859-861)tCa>tTa	p.S287L	SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000284776.7_Missense_Mutation_p.S287L|SORBS2_ENST00000418609.1_Missense_Mutation_p.S191L|SORBS2_ENST00000437304.2_Missense_Mutation_p.S538L|SORBS2_ENST00000355634.5_Missense_Mutation_p.S387L|SORBS2_ENST00000393528.3_Missense_Mutation_p.S380L|SORBS2_ENST00000449407.2_Missense_Mutation_p.S358L|SORBS2_ENST00000319471.9_Missense_Mutation_p.S445L|SORBS2_ENST00000448662.2_Missense_Mutation_p.S375L			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	287						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGTGGTGCTTGATCCTGGGAG	0.512000													11	52					0	0	1	0	0
C1orf109	54955	broad.mit.edu	37	1	38155472	38155472	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:38155472C>T	ENST00000358011.4	-	2	270	c.81G>A	c.(79-81)ctG>ctA	p.L27L	C1orf109_ENST00000464085.1_Silent_p.L27L	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109	27										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				CACTCTGCCACAGGCCCTGCT	0.617000													11	15					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117696870	117696870	+	Silent	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:117696870G>T	ENST00000317775.6	-	15	3118	c.2433C>A	c.(2431-2433)acC>acA	p.T811T	NOS1_ENST00000338101.4_Silent_p.T811T|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	811	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CAAAGGTGCTGGTGACCACAA	0.512000													22	28					5.26018e-13	5.62212e-13	1	1	0
HFE	3077	broad.mit.edu	37	6	26087676	26087676	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:26087676C>T	ENST00000357618.5	+	1	130	c.8C>T	c.(7-9)cCg>cTg	p.P3L	HFE_ENST00000470149.1_Missense_Mutation_p.P3L|HFE_ENST00000461397.1_Missense_Mutation_p.P3L|HFE_ENST00000336625.8_Missense_Mutation_p.P3L|HFE_ENST00000353147.5_Missense_Mutation_p.P3L|HFE_ENST00000488199.1_Missense_Mutation_p.P3L|HFE_ENST00000317896.7_Missense_Mutation_p.P3L|HFE_ENST00000352392.4_Missense_Mutation_p.P3L|HFE_ENST00000397022.3_Missense_Mutation_p.P3L|HFE_ENST00000309234.6_Missense_Mutation_p.P3L|HFE_ENST00000349999.4_Missense_Mutation_p.P3L	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	3					antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAAATGGGCCCGCGAGCCAGG	0.657000									Hemochromatosis				11	34					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80476094	80476094	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:80476094C>A	ENST00000265080.4	+	18	2854	c.2787C>A	c.(2785-2787)caC>caA	p.H929Q		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	929					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 transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCTCAAAGCACGCACAGGTAA	0.408000													14	85					4.36969e-10	4.60696e-10	1	1	0
LRP1B	53353	broad.mit.edu	37	2	142237984	142237984	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:142237984G>A	ENST00000389484.3	-	3	1295	c.324C>T	c.(322-324)gaC>gaT	p.D108D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	108	LDL-receptor class A 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTACTCCTTCGTCATACCCAT	0.408000										TSP Lung(27;0.18)			36	26					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	172735740	172735740	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:172735740G>A	ENST00000506823.1	+	2	666	c.9G>A	c.(7-9)agG>agA	p.R3R	GALNTL6_ENST00000511251.1_Silent_p.R3R	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	3						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CAATGAAGAGGAAACAGAAGA	0.433000													16	26					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72667110	72667110	+	Silent	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:72667110T>C	ENST00000261180.4	+	1	648	c.552T>C	c.(550-552)gcT>gcC	p.A184A	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	184					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCTGCACGCTTCCCGAGTGG	0.617000													15	34					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74470516	74470516	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:74470516G>A	ENST00000591885.1	-	12	1953	c.1403C>T	c.(1402-1404)tCa>tTa	p.S468L	RHBDF2_ENST00000389760.4_Missense_Mutation_p.S468L|RHBDF2_ENST00000313080.4_Missense_Mutation_p.S497L			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	497					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						ACAGCAGCCTGAGTCCCGCTC	0.652000													32	37					0	0	1	0	0
CALR3	125972	broad.mit.edu	37	19	16594792	16594792	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:16594792C>T	ENST00000269881.3	-	5	689	c.627G>A	c.(625-627)acG>acA	p.T209T	CTD-3222D19.2_ENST00000409035.1_Intron|CALR3_ENST00000602234.1_5'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	209	4 X approximate repeats.|P-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding	p.T209T(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CTGCCGGGGACGTTTCCTTCT	0.418000													6	86					0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125989277	125989277	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:125989277G>A	ENST00000319286.5	+	3	921	c.767G>A	c.(766-768)aGc>aAc	p.S256N		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTCAGTCACAGCTATGTCCTA	0.438000										HNSCC(60;0.17)			39	74					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35108216	35108216	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:35108216G>A	ENST00000378561.1	-	2	3111	c.56C>T	c.(55-57)tCa>tTa	p.S19L	FAM214B_ENST00000603301.1_Missense_Mutation_p.S19L|FAM214B_ENST00000322813.5_Missense_Mutation_p.S19L|FAM214B_ENST00000488109.2_Missense_Mutation_p.S19L|FAM214B_ENST00000378554.2_Missense_Mutation_p.S19L|FAM214B_ENST00000378557.1_Missense_Mutation_p.S19L|FAM214B_ENST00000605244.1_Missense_Mutation_p.S19L|FAM214B_ENST00000378566.1_5'UTR			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	19						nucleus											TGGAGGCTGTGAAGGGCCAGC	0.692000													6	3					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178941935	178941935	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:178941935C>G	ENST00000263967.3	+	15	2411	c.2254C>G	c.(2254-2256)Ctg>Gtg	p.L752V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	752					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACAGGGCTTTCTGTCTCCTCT	0.363000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			22	68					0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145059316	145059316	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:145059316G>A	ENST00000313028.7	-	5	948	c.854C>T	c.(853-855)aCg>aTg	p.T285M	PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Missense_Mutation_p.T297M|PARP10_ENST00000524918.1_Missense_Mutation_p.T285M	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	285						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGCAGAGCCGTCACCAACCC	0.657000													35	63					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108464218	108464218	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:108464218C>T	ENST00000265843.4	-	1	156	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	EXPH5_ENST00000525344.1_Missense_Mutation_p.E9K	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	16					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTGGCCTCTTCGTCATTTAAG	0.458000													55	133					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900669	202900669	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:202900669C>T	ENST00000286201.1	+	1	1360	c.1299C>T	c.(1297-1299)ctC>ctT	p.L433L		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	433				L -> F (in Ref. 1; BAA32424).	axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCGTCTACCTCTTCATAGGCA	0.622000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	28					0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131322536	131322536	+	Silent	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:131322536T>C	ENST00000379264.2	-	8	951	c.843A>G	c.(841-843)caA>caG	p.Q281Q	ACSL6_ENST00000544770.1_Silent_p.Q165Q|ACSL6_ENST00000379255.1_Silent_p.Q221Q|ACSL6_ENST00000296869.4_Silent_p.Q281Q|ACSL6_ENST00000379249.3_Silent_p.Q256Q|ACSL6_ENST00000543479.1_Silent_p.Q256Q|ACSL6_ENST00000379246.1_Silent_p.Q267Q|ACSL6_ENST00000431707.1_Silent_p.Q236Q|ACSL6_ENST00000379272.2_Silent_p.Q271Q|ACSL6_ENST00000357096.1_Silent_p.Q221Q|ACSL6_ENST00000379244.1_Silent_p.Q256Q|ACSL6_ENST00000379240.1_Silent_p.Q256Q	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	256					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTGATTCTCTTGGCCACAGT	0.488000													17	18					0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63852116	63852116	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:63852116G>A	ENST00000268049.7	+	8	852	c.528G>A	c.(526-528)ggG>ggA	p.G176G	USP3_ENST00000540797.1_Silent_p.G154G|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000539772.1_Intron|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Silent_p.G181G|USP3_ENST00000380324.3_Silent_p.G198G|USP3_ENST00000536001.1_Intron|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000559711.1_Silent_p.G109G			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	198					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		TAAGGAATGGGAAAACAGCAG	0.388000													8	10					0	0	1	0	0
MTFR1	9650	broad.mit.edu	37	8	66582252	66582252	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:66582252C>T	ENST00000262146.4	+	2	191	c.65C>T	c.(64-66)tCg>tTg	p.S22L	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Splice_Site_p.S22L	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	22						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			AGCATGCAATCGGTGAGTGCT	0.328000													12	81					0	0	1	0	0
IL10RB	3588	broad.mit.edu	37	21	34649001	34649001	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr21:34649001G>A	ENST00000290200.2	+	3	382	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	AP000295.9_ENST00000433395.2_Silent_p.L219L	NM_000628.4	NP_000619.3			interleukin 10 receptor, beta									p.E92K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						AGTCAGGGCTGAATTTGCAGA	0.393000													52	117					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85435989	85435989	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:85435989T>C	ENST00000359152.5	-	1	3082	c.3083A>G	c.(3082-3084)tAt>tGt	p.Y1028C	SYTL2_ENST00000525423.1_Missense_Mutation_p.Y504C|SYTL2_ENST00000354566.3_Missense_Mutation_p.Y504C|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GCCTTTGCCATATTGAGCAAC	0.423000													23	72					0	0	1	0	0
DYM	54808	broad.mit.edu	37	18	46860154	46860154	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr18:46860154G>A	ENST00000269445.6	-	7	1021	c.564C>T	c.(562-564)ttC>ttT	p.F188F	DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_Silent_p.F33F	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	188						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CTTCTTTGTGGAAGAGTTGGC	0.343000													45	38					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73545471	73545471	+	Silent	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:73545471G>T	ENST00000224721.6	+	43	5816	c.5811G>T	c.(5809-5811)ccG>ccT	p.P1937P		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1932	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGGACAACCCGGAGAATCCAC	0.612000													3	5					0.000602214	0.000614522	1	1	0
C6orf195	154386	broad.mit.edu	37	6	2623840	2623840	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:2623840G>A	ENST00000296847.3	-	3	740	c.217C>T	c.(217-219)Cct>Tct	p.P73S		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	73										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GATGGGGCAGGAACTGAGGGG	0.622000													18	30					0	0	1	0	0
FAM127A	8933	broad.mit.edu	37	X	134166413	134166413	+	Translation_Start_Site	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrX:134166413G>A	ENST00000257013.7	+	0	81				FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A											endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					GAGGAGCAGCGATGGACGGTC	0.652000													19	9					0	0	1	0	0
C8orf76	84933	broad.mit.edu	37	8	124238837	124238837	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:124238837G>A	ENST00000276704.4	-	5	902	c.851C>T	c.(850-852)tCg>tTg	p.S284L	ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.S252L|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	284							binding	p.S284L(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CAAAGCAAACGATGTTTGCTG	0.443000													65	48					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45872219	45872219	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:45872219T>C	ENST00000391945.4	-	4	292	c.215A>G	c.(214-216)tAc>tGc	p.Y72C	ERCC2_ENST00000391940.4_Missense_Mutation_p.Y48C|ERCC2_ENST00000391944.3_Missense_Mutation_p.Y72C|ERCC2_ENST00000221481.6_Missense_Mutation_p.Y72C|ERCC2_ENST00000485403.2_Missense_Mutation_p.Y48C	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	72	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TCTTGAGCAGTAGATGAGTTT	0.577000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				28	100					0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82645075	82645075	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:82645075G>A	ENST00000533655.1	+	6	2907	c.2695G>A	c.(2695-2697)Gag>Aag	p.E899K	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Missense_Mutation_p.E598K|C11orf82_ENST00000430323.2_Missense_Mutation_p.E899K|C11orf82_ENST00000528759.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	899					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TGATCAACAAGAGTTACCAAG	0.363000													12	23					0	0	1	0	0
VCPIP1	80124	broad.mit.edu	37	8	67577417	67577417	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:67577417G>T	ENST00000310421.4	-	1	2035	c.1777C>A	c.(1777-1779)Cct>Act	p.P593T		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	593					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAAGTAATAGGGAAAGCTTCT	0.398000													58	73					1.00798e-23	1.09068e-23	1	1	0
RNF175	285533	broad.mit.edu	37	4	154669824	154669824	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:154669824C>T	ENST00000347063.4	-	3	591	c.219G>A	c.(217-219)tgG>tgA	p.W73*	RNF175_ENST00000506505.1_5'UTR|RNF175_ENST00000274068.4_5'UTR	NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	73						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GCCTCTGTCTCCACTGAACCA	0.527000													4	6					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186570784	186570784	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:186570784G>A	ENST00000431808.1	-	10	969	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000284776.7_Nonsense_Mutation_p.Q136*|SORBS2_ENST00000418609.1_Nonsense_Mutation_p.Q40*|SORBS2_ENST00000437304.2_Nonsense_Mutation_p.Q315*|SORBS2_ENST00000355634.5_Nonsense_Mutation_p.Q236*|SORBS2_ENST00000393528.3_Nonsense_Mutation_p.Q182*|SORBS2_ENST00000449407.2_Nonsense_Mutation_p.Q207*|SORBS2_ENST00000319471.9_Nonsense_Mutation_p.Q222*|SORBS2_ENST00000448662.2_Nonsense_Mutation_p.Q205*			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	136						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGGTGTGACTGAGCACTGTAG	0.443000													18	26					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145311117	145311117	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:145311117C>G	ENST00000342960.5	+	13	1851	c.1816C>G	c.(1816-1818)Caa>Gaa	p.Q606E	NBPF10_ENST00000369338.1_Missense_Mutation_p.Q335E|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Missense_Mutation_p.Q335E	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	606										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCGGTGGGATCAAGTGAAAAA	0.463000													26	861					0	0	1	0	0
SPEF1	25876	broad.mit.edu	37	20	3758958	3758958	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr20:3758958C>T	ENST00000379756.3	-	7	772	c.612G>A	c.(610-612)caG>caA	p.Q204Q	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	204						cilium axoneme|cytoplasm|cytoskeleton				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						TTACCTTCATCTGCAGGACCT	0.682000													8	14					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32338285	32338285	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:32338285G>A	ENST00000396193.1	-	1	656	c.63C>T	c.(61-63)atC>atT	p.I21I		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					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)			TGTAGCCATCGATGCTGAAAG	0.622000													8	12					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080459	152080459	+	Missense_Mutation	SNP	C	C	T	rs71585886		TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:152080459C>T	ENST00000368804.1	-	2	5233	c.5234G>A	c.(5233-5235)cGc>cAc	p.R1745H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1745	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCTGTAGCGTTCTTGGCG	0.587000													10	104					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677949	37677949	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:37677949C>A	ENST00000532828.2	-	5	741	c.490G>T	c.(490-492)Ggg>Tgg	p.G164W	ZNF585B_ENST00000531805.1_Missense_Mutation_p.G109W|ZNF585B_ENST00000527838.1_Intron|ZNF585B_ENST00000312908.5_Intron|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGCCCTCCCACATTCAATA	0.398000													5	195					0.000602214	0.000614522	1	1	0
KPRP	448834	broad.mit.edu	37	1	152732188	152732188	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:152732188G>A	ENST00000368773.1	+	2	182	c.124G>A	c.(124-126)Gag>Aag	p.E42K	KPRP_ENST00000606109.1_Missense_Mutation_p.E42K	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	42	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCCCTTGTGAGATGCAAAT	0.582000													21	128					0	0	1	0	0
WDR46	9277	broad.mit.edu	37	6	33254944	33254944	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:33254944C>T	ENST00000374617.4	-	9	1295	c.939G>A	c.(937-939)ctG>ctA	p.L313L		NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	313										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CTCGAGCATTCAGAGCTGCCA	0.502000													14	59					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99467239	99467239	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:99467239G>A	ENST00000268035.6	+	12	3231	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K	IGF1R_ENST00000558762.1_Missense_Mutation_p.E874K	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	874	Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ATCACAAGTTGAGGTAGGACT	0.473000													27	24					0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24808663	24808663	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:24808663G>A	ENST00000216274.5	-	2	379	c.161C>T	c.(160-162)tCg>tTg	p.S54L	RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	54	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GGTCACTCACGAGTTTACGAT	0.607000													22	107					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746945	158746945	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:158746945T>G	ENST00000339258.1	-	1	480	c.481A>C	c.(481-483)Atc>Ctc	p.I161L		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GAGGCAAGGATGACCTCAGAA	0.502000													10	83					0	0	1	0	0
TBK1	29110	broad.mit.edu	37	12	64891001	64891001	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:64891001G>A	ENST00000331710.5	+	18	2260	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	641					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TTTTGATATTGAAGAAGAAGT	0.308000													41	64					0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65054536	65054536	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:65054536G>A	ENST00000380985.5	+	2	362	c.184G>A	c.(184-186)Gag>Aag	p.E62K	NLN_ENST00000502464.1_Intron	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	62					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AACAAGAACTGAGGAGCTCAT	0.448000													4	51					0	0	1	0	0
HOXD11	3237	broad.mit.edu	37	2	176973754	176973754	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:176973754C>T	ENST00000249504.5	+	2	971	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	HOXD11_ENST00000498438.1_3'UTR|HOXD10_ENST00000490088.2_3'UTR	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	301						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TCAACTCTCTCGGATGCTCAA	0.448000			T	NUP98	AML								66	108					0	0	1	0	0
UNCX	340260	broad.mit.edu	37	7	1273287	1273287	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:1273287G>A	ENST00000316333.8	+	2	517	c.406G>A	c.(406-408)Gag>Aag	p.E136K		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	136					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GTTCATGCGCGAGGCGCTGGC	0.677000													23	39					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43496616	43496616	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:43496616C>T	ENST00000265351.7	-	24	2935	c.2725G>A	c.(2725-2727)Gaa>Aaa	p.E909K	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	909					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			ACCAGGGCTTCATAGTGCTCT	0.478000													6	15					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114305017	114305017	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:114305017A>G	ENST00000309235.5	+	6	1960	c.1802A>G	c.(1801-1803)cAc>cGc	p.H601R	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	601					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CAGAGAATTCACACTGGAGAA	0.388000													18	55					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21811370	21811370	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:21811370A>G	ENST00000206660.6	+	21	3515	c.3515A>G	c.(3514-3516)cAc>cGc	p.H1172R	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.H829R|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.H1172R|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.H531R|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.H498R|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.H1134R			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1172	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAAGAAATCCACTTTCACTTT	0.468000													5	20					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336525	30336525	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:30336525G>A	ENST00000375377.1	-	2	318	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	73										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						GGTGTGCTGCGGCGGCTTTCG	0.622000													27	30					0	0	1	0	0
DUS1L	64118	broad.mit.edu	37	17	80019221	80019221	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:80019221G>A	ENST00000354321.7	-	7	1191	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	DUS1L_ENST00000306796.5_Silent_p.L236L			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	236					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GGGTTGTGCAGGTTGCCCTCT	0.667000													14	30					0	0	1	0	0
RNF149	284996	broad.mit.edu	37	2	101893733	101893733	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:101893733C>T	ENST00000295317.3	-	7	1277	c.1170G>A	c.(1168-1170)agG>agA	p.R390R		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	390						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GAGAGTCACTCCTGCCGGCTT	0.468000													40	14					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32818201	32818201	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr13:32818201G>C	ENST00000380250.3	+	47	7206	c.6710G>C	c.(6709-6711)aGt>aCt	p.S2237T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGCCTCCCTAGTGTGCAGCAG	0.527000													6	71					0	0	1	0	0
TAF9	6880	broad.mit.edu	37	5	68660803	68660803	+	Silent	SNP	G	G	A	rs149295876		TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:68660803G>A	ENST00000328663.4	-	3	1228	c.762C>T	c.(760-762)gaC>gaT	p.D254D	TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_Silent_p.D254D|TAF9_ENST00000506736.1_Silent_p.D254D	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	58						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		catcatcatcgtcatcatcat	0.318000													16	108					0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367850	142367850	+	Silent	SNP	C	C	G	rs143776711	byFrequency	TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:142367850C>G	ENST00000377741.3	-	2	264	c.174G>C	c.(172-174)gcG>gcC	p.A58A		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	58						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CTCCGTGCACCGCCATCAGCG	0.662000													5	67					0	0	1	0	0
HOMER3	9454	broad.mit.edu	37	19	19049288	19049288	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:19049288G>A	ENST00000539827.1	-	3	829	c.177C>T	c.(175-177)atC>atT	p.I59I	HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000221222.11_Silent_p.I59I|HOMER3_ENST00000392351.3_Silent_p.I59I|HOMER3_ENST00000542541.2_Silent_p.I59I|HOMER3_ENST00000355887.6_Silent_p.I59I|HOMER3_ENST00000433218.2_Silent_p.I59I|HOMER3_ENST00000594439.1_Silent_p.I59I			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	59	WH1.				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TGCTGTTGATGATGGCCTAGG	0.517000													32	87					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2153703	2153703	+	Silent	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:2153703G>T	ENST00000262304.4	-	23	8563	c.8355C>A	c.(8353-8355)ggC>ggA	p.G2785G	PKD1_ENST00000561991.1_Intron|PKD1_ENST00000423118.1_Silent_p.G2785G	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2785	REJ.		G -> D (in ADPKD1).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCGAGCGCTTGCCCTGGGCCA	0.701000													6	30					0.00198382	0.00200099	1	1	0
RPL36A	6173	broad.mit.edu	37	X	100646014	100646014	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrX:100646014G>A	ENST00000427805.2	+	1	203	c.91G>A	c.(91-93)Gat>Aat	p.D31N	RPL36A-HNRNPH2_ENST00000409170.3_Silent_p.P5P|RPL36A_ENST00000553110.3_5'UTR	NM_021029.5	NP_066357.2			ribosomal protein L36a											liver(4)|lung(1)|prostate(1)	6						TTTCCGCGCCGATAGCGCTCA	0.562000											OREG0019892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	34					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149152303	149152303	+	Silent	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:149152303G>T	ENST00000247930.4	-	2	1134	c.811C>A	c.(811-813)Cgg>Agg	p.R271R		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGGGCAGCCGCAGGATCCAG	0.552000													17	151					6.49762e-13	6.9341e-13	1	1	0
BLZF1	8548	broad.mit.edu	37	1	169356364	169356364	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:169356364G>A	ENST00000367808.3	+	7	1570	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	BLZF1_ENST00000329281.2_Missense_Mutation_p.E383K			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	383					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					TACTAGATATGAAAATATAAC	0.383000													37	26					0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158368544	158368544	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:158368544A>T	ENST00000334438.1	-	1	712	c.713T>A	c.(712-714)tTt>tAt	p.F238Y		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACAGGTGACAAAGGCCTTCTT	0.478000													7	51					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7046142	7046142	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:7046142C>T	ENST00000356654.4	+	5	1949	c.1712C>T	c.(1711-1713)tCt>tTt	p.S571F	ATN1_ENST00000396684.2_Missense_Mutation_p.S571F	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	571	Poly-Ser.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTCTCTTCCTCTTCCAACTCT	0.632000													13	79					0	0	1	0	0
FASTK	10922	broad.mit.edu	37	7	150776970	150776970	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:150776970G>C	ENST00000540185.1	-	2	624	c.20C>G	c.(19-21)tCt>tGt	p.S7C	FASTK_ENST00000489884.1_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.S41C|FASTK_ENST00000297532.6_Missense_Mutation_p.S41C|FASTK_ENST00000353841.2_Intron			Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	41					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGTCTGAGCAGAGAGCAGGAC	0.607000													8	10					0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37382477	37382477	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:37382477T>G	ENST00000520965.1	-	6	1525	c.1459A>C	c.(1459-1461)Aaa>Caa	p.K487Q	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Missense_Mutation_p.K406Q|ZNF345_ENST00000526123.1_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCATAGGGTTTCTCACCAGTG	0.398000													10	128					0	0	1	0	0
BSDC1	55108	broad.mit.edu	37	1	32852411	32852411	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:32852411G>A	ENST00000341071.7	-	3	169	c.158C>T	c.(157-159)gCc>gTc	p.A53V	BSDC1_ENST00000455895.2_Missense_Mutation_p.A53V|BSDC1_ENST00000449308.1_Missense_Mutation_p.A53V|BSDC1_ENST00000419121.2_Missense_Mutation_p.A53V|BSDC1_ENST00000413080.1_Missense_Mutation_p.A53V|BSDC1_ENST00000446293.2_Missense_Mutation_p.A53V|BSDC1_ENST00000526031.1_Intron			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	53							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCTGGCCGTGGCTGCGATGGT	0.587000													7	12					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274845	29274845	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:29274845C>T	ENST00000377160.2	+	1	443	c.379C>T	c.(379-381)Cca>Tca	p.P127S		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AATCTGTCAACCACTTCATTA	0.493000													10	59					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110586410	110586410	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:110586410C>T	ENST00000369795.3	+	10	1240	c.1218C>T	c.(1216-1218)ccC>ccT	p.P406P	STRIP1_ENST00000369796.1_Silent_p.P311P	NM_033088.3	NP_149079.2			striatin interacting protein 1																		TGATGCCTCCCCCGCTACAGC	0.567000													12	15					0	0	1	0	0
TRIM73	375593	broad.mit.edu	37	7	75028248	75028248	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:75028248G>A	ENST00000323819.3	+	2	231	c.31G>A	c.(31-33)Gag>Aag	p.E11K	TRIM73_ENST00000430211.1_Missense_Mutation_p.E11K|TRIM73_ENST00000447409.2_Missense_Mutation_p.E11K|TRIM73_ENST00000437796.1_Missense_Mutation_p.E11K|TRIM73_ENST00000463766.1_3'UTR|TRIM73_ENST00000450434.1_Intron	NM_198924.2	NP_944606.2	Q86UV6	TRI74_HUMAN	tripartite motif containing 73	11						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCTGGAGCTGGAGGACCGGCT	0.617000													24	90					0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1510899	1510899	+	Silent	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:1510899C>A	ENST00000382745.4	-	5	1007	c.402G>T	c.(400-402)ggG>ggT	p.G134G	CLCN7_ENST00000448525.1_Silent_p.G110G|CLCN7_ENST00000262318.8_Silent_p.G110G	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	134						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CCGTGAGGATCCCAATGAGGG	0.642000													16	14					0.00074312	0.000757203	1	1	0
DNAAF2	55172	broad.mit.edu	37	14	50092450	50092450	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:50092450A>T	ENST00000298292.8	-	3	2404	c.2324T>A	c.(2323-2325)aTa>aAa	p.I775K	DNAAF2_ENST00000406043.3_Missense_Mutation_p.I727K	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	775					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						CTCTTCAGTTATTACTGACTC	0.328000													12	44					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229489	140229489	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:140229489C>T	ENST00000378122.3	+	1	2133	c.1409C>T	c.(1408-1410)cCg>cTg	p.P470L	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.P470L|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAACCCGCCGGGCTGCCAC	0.672000													10	83					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70840972	70840972	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:70840972G>T	ENST00000358731.4	+	32	6933	c.6670G>T	c.(6670-6672)Ggt>Tgt	p.G2224C	BDP1_ENST00000380675.2_Missense_Mutation_p.G360C	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2224					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAGGGGTCTTGGTGAAAATTC	0.458000													32	38					1.08052e-11	1.14959e-11	1	1	0
SH3RF1	57630	broad.mit.edu	37	4	170190326	170190326	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:170190326G>C	ENST00000284637.9	-	2	379	c.38C>G	c.(37-39)cCg>cGg	p.P13R		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	13						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TAGACACACCGGACACTCCAA	0.433000													6	34					0	0	1	0	0
C5orf49	134121	broad.mit.edu	37	5	7835579	7835579	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:7835579A>G	ENST00000399810.2	-	2	648	c.180T>C	c.(178-180)ttT>ttC	p.F60F	C5orf49_ENST00000509627.1_Silent_p.F60F	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	60										large_intestine(3)|lung(5)|skin(1)	9						GGCGCCTCTTAAAAATACAAT	0.408000													26	48					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132071660	132071660	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:132071660G>A	ENST00000336375.5	+	9	1051	c.961G>A	c.(961-963)Gag>Aag	p.E321K	ACPP_ENST00000351273.7_Missense_Mutation_p.E321K|ACPP_ENST00000475741.1_Missense_Mutation_p.E288K	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	321						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ATTGTACTTTGAGAAGGGGTA	0.433000													13	49					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14650794	14650794	+	Silent	SNP	T	T	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:14650794T>G	ENST00000544627.1	+	15	3944	c.3624T>G	c.(3622-3624)gcT>gcG	p.A1208A	ATF7IP_ENST00000536444.1_Silent_p.A1199A|ATF7IP_ENST00000261168.4_Silent_p.A1200A|ATF7IP_ENST00000540793.1_Silent_p.A1200A			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1200	Fibronectin type-III.|Interaction with MBD1.				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						ATCTCTATGCTTACCATGAGG	0.502000													9	42					0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65048496	65048496	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:65048496G>A	ENST00000265465.3	+	8	1309	c.778G>A	c.(778-780)Gat>Aat	p.D260N	POLA2_ENST00000541089.1_Missense_Mutation_p.D52N	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	260					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GATTGGCTGTGATAGCAACGG	0.493000													18	67					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207640067	207640067	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:207640067C>T	ENST00000367057.3	+	2	444	c.255C>T	c.(253-255)ttC>ttT	p.F85F	CR2_ENST00000458541.2_Silent_p.F85F|CR2_ENST00000367059.3_Silent_p.F85F|CR2_ENST00000367058.3_Silent_p.F85F	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	85					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTGAATATTTCAATAAATATT	0.408000													44	21					0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39412269	39412269	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:39412269C>T	ENST00000599996.1	-	8	639	c.640G>A	c.(640-642)Gat>Aat	p.D214N	SARS2_ENST00000430193.3_Silent_p.E144E|SARS2_ENST00000448145.2_Silent_p.E144E|SARS2_ENST00000221431.6_Silent_p.E144E|SARS2_ENST00000594171.1_Intron|SARS2_ENST00000600042.1_Intron																							CCTTCCGGATCTCCCGGCCAC	0.657000													28	18					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150390175	150390175	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:150390175C>T	ENST00000223293.5	+	3	895	c.801C>T	c.(799-801)atC>atT	p.I267I		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	267						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCCTTAATCAAAACACAAC	0.363000													29	24					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49637056	49637056	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:49637056G>A	ENST00000334186.4	+	10	1514	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	PPFIA3_ENST00000602351.1_Missense_Mutation_p.E389K	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	389						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTCCTAGGCCGAGGAACGTCA	0.632000													5	26					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123342519	123342519	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:123342519G>A	ENST00000296513.2	+	12	1776	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	ADAD1_ENST00000388724.2_Missense_Mutation_p.E520K|ADAD1_ENST00000388725.2_Missense_Mutation_p.E513K	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	531	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGAATTACTTGAAGCTGGTAC	0.343000													13	32					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133306451	133306451	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:133306451C>T	ENST00000539605.1	-	10	8795	c.2111G>A	c.(2110-2112)aGa>aAa	p.R704K	ANKLE2_ENST00000542657.1_Missense_Mutation_p.R121K|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R766K|ANKLE2_ENST00000542282.1_Missense_Mutation_p.R121K			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	766						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGCATTGATTCTTGAAGTCAG	0.428000													30	29					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71341877	71341877	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:71341877G>A	ENST00000260382.5	+	16	2247	c.1987G>A	c.(1987-1989)Gat>Aat	p.D663N	LRRC49_ENST00000443425.2_Missense_Mutation_p.D619N|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.D653N|LRRC49_ENST00000560158.2_Missense_Mutation_p.D351N|LRRC49_ENST00000560691.1_Missense_Mutation_p.D369N|LRRC49_ENST00000560369.1_Missense_Mutation_p.D668N	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	663						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GCTTGTTAGGGATGCAGTCAT	0.368000													45	43					0	0	1	0	0
ODF3L1	161753	broad.mit.edu	37	15	76019755	76019755	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:76019755A>G	ENST00000332145.2	+	4	922	c.699A>G	c.(697-699)ccA>ccG	p.P233P		NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	233										kidney(1)|lung(1)	2						ACCTCACGCCACGGCCTGGCC	0.627000													18	20					0	0	1	0	0
CCDC84	338657	broad.mit.edu	37	11	118869194	118869194	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:118869194G>A	ENST00000334418.1	+	2	231	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	59										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CTATGTGCCCGAACACGAGCG	0.672000													4	28					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584465	88584465	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:88584465G>T	ENST00000339673.6	+	6	1634	c.1535G>T	c.(1534-1536)gGc>gTc	p.G512V	RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.G496V|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	512					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TGCCAAGACGGCTATTAGCAT	0.393000													33	85					6.53348e-20	7.04769e-20	1	1	0
CYP17A1	1586	broad.mit.edu	37	10	104591349	104591349	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:104591349C>T	ENST00000369887.3	-	7	1330	c.1159G>A	c.(1159-1161)Gac>Aac	p.D387N		NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	387					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GTGCCCTTGTCCACAGCAAAC	0.542000													16	11					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58302886	58302886	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:58302886C>A	ENST00000249750.4	-	4	1221	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.G131C|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.G152C|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.G123C|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.G56C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	152					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TCAGCCCAGCCTGCGTAATAT	0.443000													36	38					2.2871e-25	2.47857e-25	1	1	0
PPFIA3	8541	broad.mit.edu	37	19	49636391	49636391	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:49636391C>T	ENST00000334186.4	+	8	1362	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	PPFIA3_ENST00000602351.1_Missense_Mutation_p.S338L	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	338						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AGCAAGGAGTCGTTGTATCGG	0.677000													7	24					0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60881304	60881304	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr20:60881304C>T	ENST00000253003.2	+	4	428	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	128	Interaction with PSMD1.|PH.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CAACGAGTATCTGAACAACCC	0.612000													15	46					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287350	46287350	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr13:46287350A>T	ENST00000378966.3	+	2	498	c.82A>T	c.(82-84)Aac>Tac	p.N28Y	SPERT_ENST00000310521.1_Missense_Mutation_p.N64Y			Q8NA61	SPERT_HUMAN	spermatid associated	64						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GAGGCTCCACAACTTGTACAG	0.642000													3	15					0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573341	136573341	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:136573341A>G	ENST00000446465.2	+	2	667	c.39A>G	c.(37-39)aaA>aaG	p.K13K	RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.K13K	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	13						Golgi apparatus|integral to membrane											CAGTTAAAAAACGGGTGAAAA	0.338000													35	103					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89029486	89029486	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:89029486C>T	ENST00000251038.5	+	1	234	c.9C>T	c.(7-9)atC>atT	p.I3I	ZC3H14_ENST00000555755.1_Silent_p.I3I|ZC3H14_ENST00000359301.3_5'UTR|ZC3H14_ENST00000393514.5_Silent_p.I3I|ZC3H14_ENST00000302216.8_Silent_p.I3I|ZC3H14_ENST00000556945.1_Silent_p.I3I|ZC3H14_ENST00000557607.1_5'UTR	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	3						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CCATGGAGATCGGCACCGAGA	0.706000													6	3					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641728	179641728	+	Silent	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:179641728G>T	ENST00000589042.1	-	28	5087	c.4863C>A	c.(4861-4863)gtC>gtA	p.V1621V	TTN_ENST00000460472.2_Silent_p.V1575V|TTN_ENST00000342992.6_Silent_p.V1621V|TTN_ENST00000359218.5_Silent_p.V1575V|TTN_ENST00000342175.6_Silent_p.V1575V|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Silent_p.V1621V|TTN_ENST00000591111.1_Silent_p.V1621V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1355	Ig-like 7.						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)			AATCTTGGCTGACAGTGGAAT	0.428000													28	61					7.07758e-08	7.41713e-08	1	1	0
USP4	7375	broad.mit.edu	37	3	49338025	49338025	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:49338025C>T	ENST00000351842.4	-	10	1254	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	USP4_ENST00000265560.4_Missense_Mutation_p.E463K	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	463					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTAGCACATTCTGGGCAAACC	0.468000													9	98					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46243484	46243484	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:46243484C>T	ENST00000334344.6	+	14	2009	c.1837C>T	c.(1837-1839)Cag>Tag	p.Q613*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q464*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q223*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	613					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GATGTACTATCAGCAGCAACC	0.423000			"""N, S, F"""		hepatocellular carcinoma								46	79					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204228723	204228723	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:204228723C>T	ENST00000272203.3	-	8	986	c.670G>A	c.(670-672)Gag>Aag	p.E224K	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E244K	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	224	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TCTGGCCTCTCAGGCCTTCTC	0.652000													22	36					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172501640	172501640	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:172501640C>T	ENST00000367723.4	+	1	152	c.28C>T	c.(28-30)Cta>Tta	p.L10L	SUCO_ENST00000608151.1_Silent_p.L10L	NM_016227.2	NP_057311.3			SUN domain containing ossification factor																		ACGCCCCTTTCTATCTACCAA	0.502000													8	15					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10265426	10265426	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:10265426G>A	ENST00000340748.4	-	20	1855	c.1620C>T	c.(1618-1620)ctC>ctT	p.L540L	DNMT1_ENST00000359526.4_Silent_p.L556L|DNMT1_ENST00000540357.1_Silent_p.L540L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	540	DNA replication foci-targeting sequence (By similarity).|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGTTCAAGTTGAGGCCAGAAG	0.537000													35	29					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96777505	96777505	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:96777505C>T	ENST00000359933.4	-	28	5003	c.4110G>A	c.(4108-4110)caG>caA	p.Q1370Q	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1370										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGTTAGGTGTCTGCAAGTCAC	0.463000													19	61					0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14706107	14706107	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:14706107C>T	ENST00000547437.1	+	8	502	c.425C>T	c.(424-426)cCa>cTa	p.P142L	CLEC17A_ENST00000397439.2_Missense_Mutation_p.P125L|CLEC17A_ENST00000417570.1_Missense_Mutation_p.P142L	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	142						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GAGCCTTCTCCATTGCAGCCA	0.493000													83	117					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101586178	101586178	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:101586178T>C	ENST00000311812.2	-	14	1388	c.1238A>G	c.(1237-1239)tAt>tGt	p.Y413C	SNX31_ENST00000428383.2_Missense_Mutation_p.Y314C	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	413					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AAAACTAGAATAGTCTTTCTG	0.328000													62	60					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822693	56822693	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:56822693G>A	ENST00000229201.4	-	11	1429	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Silent_p.R426R	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	426					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CAGCTTCCTTGCGGTCAGTCA	0.537000													18	21					0	0	1	0	0
REXO4	57109	broad.mit.edu	37	9	136282824	136282824	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:136282824C>T	ENST00000371942.3	-	1	340	c.141G>A	c.(139-141)aaG>aaA	p.K47K	REXO4_ENST00000371935.2_Silent_p.K47K|REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	47						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTGCTGGCTTCTTGCTTACTT	0.557000													54	158					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19491662	19491662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:19491662G>A	ENST00000328405.2	+	9	1706	c.1440G>A	c.(1438-1440)tgG>tgA	p.W480*	KCNH8_ENST00000537696.1_Nonsense_Mutation_p.W149*	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	480						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ACTCCAGATGGTCCCTCTATC	0.423000													24	61					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32845770	32845770	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:32845770G>A	ENST00000311921.4	+	2	2226	c.2034G>A	c.(2032-2034)gcG>gcA	p.A678A	ZNF507_ENST00000355898.5_Silent_p.A678A|ZNF507_ENST00000544431.1_Silent_p.A678A	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AGCACATAGCGGACAACAGCA	0.458000													8	64					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83352851	83352851	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrX:83352851A>G	ENST00000262752.2	-	19	1789	c.1782T>C	c.(1780-1782)ctT>ctC	p.L594L	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Silent_p.L594L	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	594	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CCTGTTGCATAAGAACCTAAG	0.323000													66	31					0	0	1	0	0
PDRG1	81572	broad.mit.edu	37	20	30538146	30538146	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr20:30538146C>T	ENST00000202017.4	-	2	262	c.132G>A	c.(130-132)ctG>ctA	p.L44L		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	44					protein folding	prefoldin complex	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGGGCCCTCAGGCCCTCTC	0.512000													38	45					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112033959	112033959	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrX:112033959G>C	ENST00000371959.3	-	7	1977	c.1978C>G	c.(1978-1980)Ctg>Gtg	p.L660V	AMOT_ENST00000371962.1_Missense_Mutation_p.L428V|AMOT_ENST00000304758.1_Missense_Mutation_p.L251V|AMOT_ENST00000371958.1_Missense_Mutation_p.L428V|AMOT_ENST00000524145.1_Missense_Mutation_p.L660V	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	660					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						AGCTCCATCAGTGCAGCAGCA	0.493000													15	40					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128657245	128657245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrX:128657245G>A	ENST00000371122.4	-	1	232	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Q35*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Q35*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	35					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	p.Q35E(1)		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						CCCTCCTCCTGAGAGGTGGAC	0.677000													49	26					0	0	1	0	0
C7orf26	79034	broad.mit.edu	37	7	6634089	6634089	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:6634089G>A	ENST00000344417.5	+	3	705	c.438G>A	c.(436-438)gtG>gtA	p.V146V	C7orf26_ENST00000359073.5_Silent_p.V127V|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	146										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		TTTACTGTGTGAGGTTAGCCA	0.527000													33	101					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3087634	3087634	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:3087634C>T	ENST00000520002.1	-	28	4831	c.4276G>A	c.(4276-4278)Gga>Aga	p.G1426R	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1425R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1425R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1426R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1426R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1425R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1426R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1426	Sushi 8.					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)		TTGGCTTGTCCTTGGAGCTGA	0.493000													13	26					0	0	1	0	0
SWI5	375757	broad.mit.edu	37	9	131038983	131038983	+	Silent	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:131038983T>C	ENST00000419867.2	+	2	279	c.180T>C	c.(178-180)tcT>tcC	p.S60S	SWI5_ENST00000495313.1_Intron|SWI5_ENST00000608796.1_Silent_p.S60S|SWI5_ENST00000320188.5_Silent_p.S125S|SWI5_ENST00000418976.1_Intron			Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)						double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										GATTCCTCTCTAGGACTGAAC	0.597000													56	76					0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48179546	48179546	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:48179546G>A	ENST00000080059.7	-	23	2694	c.2695C>T	c.(2695-2697)Ctg>Ttg	p.L899L	HDAC7_ENST00000552960.1_Silent_p.L882L|HDAC7_ENST00000427332.2_Silent_p.L860L|AC004466.1_ENST00000599515.1_3'UTR|HDAC7_ENST00000354334.3_Silent_p.L862L|HDAC7_ENST00000380610.4_Silent_p.L916L	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	860	Interaction with SIN3A (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CTGTTACCCAGAAGAGCAGCC	0.622000													4	8					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64681298	64681298	+	Silent	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:64681298C>A	ENST00000421419.2	-	4	699	c.585G>T	c.(583-585)gtG>gtT	p.V195V	ATG2A_ENST00000377264.3_Silent_p.V195V			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	195							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CTTACCTCTGCACACGGACCT	0.632000													15	26					1.37285e-15	1.47182e-15	1	1	0
CMIP	80790	broad.mit.edu	37	16	81739110	81739110	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:81739110G>A	ENST00000537098.3	+	19	2170	c.2098G>A	c.(2098-2100)Gac>Aac	p.D700N	CMIP_ENST00000398040.4_Missense_Mutation_p.D547N|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.D606N	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	666						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						ACAGTTTGGAGACGCTGGCCT	0.632000													5	4					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89237142	89237142	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:89237142G>A	ENST00000370521.3	+	5	1020	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	PKN2_ENST00000316005.7_Missense_Mutation_p.E221K|PKN2_ENST00000370513.5_Missense_Mutation_p.E221K|PKN2_ENST00000370505.3_Missense_Mutation_p.E64K	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	221					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TCGGATGGAAGAATTAAGGCA	0.348000													9	43					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104742503	104742503	+	Silent	SNP	T	T	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:104742503T>G	ENST00000334877.4	+	17	2592	c.2058T>G	c.(2056-2058)gtT>gtG	p.V686V	KMT2E_ENST00000257745.4_Silent_p.V686V|KMT2E_ENST00000311117.3_Silent_p.V686V|KMT2E_ENST00000334914.7_5'UTR					lysine (K)-specific methyltransferase 2E																		ATATAGAAGTTACTTCACAAC	0.398000													40	60					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201777667	201777667	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:201777667G>T	ENST00000367296.4	+	19	4387	c.3967G>T	c.(3967-3969)Gac>Tac	p.D1323Y	NAV1_ENST00000295624.6_Missense_Mutation_p.D1320Y|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.D929Y|NAV1_ENST00000367297.4_Missense_Mutation_p.D1315Y|NAV1_ENST00000367302.1_Missense_Mutation_p.D1276Y|NAV1_ENST00000367300.3_Missense_Mutation_p.D1263Y	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1323					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GAAGCTTACAGACATCCGCTT	0.557000													6	17					2.0095e-06	2.09024e-06	1	1	0
TOR3A	64222	broad.mit.edu	37	1	179051498	179051498	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:179051498G>A	ENST00000367627.3	+	1	987	c.235G>A	c.(235-237)Gag>Aag	p.E79K	TOR3A_ENST00000352445.6_Missense_Mutation_p.E79K	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	79					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TGACGAGGACGAGGAGGCAGC	0.716000													7	6					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134143530	134143530	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:134143530C>G	ENST00000452510.2	+	16	2205	c.2047C>G	c.(2047-2049)Cta>Gta	p.L683V	DDX46_ENST00000354283.4_Missense_Mutation_p.L683V	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	683	Helicase C-terminal.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCCCGAGGTCTAGATGTGAA	0.433000													23	45					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62885822	62885822	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrX:62885822G>A	ENST00000253401.6	-	7	1800	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R313C|ARHGEF9_ENST00000433323.2_Intron|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R232C|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.R332C|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R281C|ARHGEF9_ENST00000495564.1_Intron	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	334	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TGCTGGTTGCGGCCGTAGGGC	0.572000													20	8					0	0	1	0	0
ZNF286B	729288	broad.mit.edu	37	17	18565279	18565279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:18565279G>A	ENST00000545289.1	-	5	1790	c.1540C>T	c.(1540-1542)Caa>Taa	p.Q514*	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						TGAACTCTTTGATGTCTGATG	0.363000													11	63					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887522	47887522	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr20:47887522G>A	ENST00000396105.1	-	3	1073	c.827C>T	c.(826-828)tCt>tTt	p.S276F	ZNFX1_ENST00000371754.4_Missense_Mutation_p.S276F|ZNFX1_ENST00000371752.1_Missense_Mutation_p.S276F	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	276							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCATTAAGAGAGGTTGGCAG	0.488000													4	26					0	0	1	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212533999	212533999	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:212533999G>A	ENST00000261461.2	+	13	1922	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.E393K	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	450					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GAAGGAATTGGAACGTGAAGA	0.343000													41	26					0	0	1	0	0
TMEM64	169200	broad.mit.edu	37	8	91657402	91657402	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:91657402C>T	ENST00000458549.2	-	1	909	c.732G>A	c.(730-732)ctG>ctA	p.L244L	TMEM64_ENST00000519519.1_Intron|TMEM64_ENST00000418210.2_Silent_p.L244L	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	244						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			CCACCACTTTCAGGCCGCTTC	0.612000											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	36					0	0	1	0	0
ADAT1	23536	broad.mit.edu	37	16	75646444	75646444	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:75646444G>T	ENST00000307921.3	-	7	885	c.740C>A	c.(739-741)gCc>gAc	p.A247D		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	247	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						ACTACCAGGGGCTATTCTGGT	0.527000													21	59					7.41877e-09	7.79808e-09	1	1	0
MTR	4548	broad.mit.edu	37	1	236979841	236979841	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:236979841C>T	ENST00000366577.5	+	8	1156	c.762C>T	c.(760-762)ctC>ctT	p.L254L	MTR_ENST00000535889.1_Silent_p.L254L|MTR_ENST00000418145.2_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	254	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GAGAACCACTCTGGTGAGTGA	0.463000													57	27					0	0	1	0	0
SPTSSA	171546	broad.mit.edu	37	14	34904426	34904426	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:34904426T>C	ENST00000298130.4	-	2	345	c.197A>G	c.(196-198)tAc>tGc	p.Y66C		NM_138288.3	NP_612145.2	Q969W0	SSPTA_HUMAN	serine palmitoyltransferase, small subunit A	66					sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding										GATTTCAAAGTAGTGCAATAT	0.468000													5	17					0	0	1	0	0
ABHD15	116236	broad.mit.edu	37	17	27893210	27893210	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:27893210C>T	ENST00000307201.4	-	1	945	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	259						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						ATGCAGGCGGCGCCTGTCACG	0.711000													11	18					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129845660	129845660	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:129845660C>T	ENST00000254667.3	+	4	395	c.116C>T	c.(115-117)cCg>cTg	p.P39L	PTPRE_ENST00000471218.1_Missense_Mutation_p.P39L|PTPRE_ENST00000419012.2_Missense_Mutation_p.P39L|PTPRE_ENST00000430713.2_Missense_Mutation_p.P39L	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	39					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GCAGGCCCTCCGGACCCGGGC	0.612000													8	10					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167551961	167551961	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:167551961G>A	ENST00000519204.1	+	10	1870	c.1752G>A	c.(1750-1752)caG>caA	p.Q584Q	TENM2_ENST00000545108.1_Silent_p.Q705Q|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000518659.1_Silent_p.Q705Q|TENM2_ENST00000403607.2_Silent_p.Q538Q|TENM2_ENST00000520394.1_Silent_p.Q473Q					teneurin transmembrane protein 2																		CGAGGGTCCAGTGCCCAGACC	0.627000													33	7					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24206576	24206576	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:24206576G>A	ENST00000280696.5	-	1	510	c.270C>T	c.(268-270)ttC>ttT	p.F90F	THRB_ENST00000416420.1_Intron|THRB_ENST00000356447.4_Intron|THRB_ENST00000396671.2_Intron			P10828	THB_HUMAN	thyroid hormone receptor, beta	0	Modulating.				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)	TTTCTTCAGTGAAATATTCAG	0.388000													8	52					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28508827	28508827	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:28508827G>A	ENST00000564831.1	+	2	2498	c.2465G>A	c.(2464-2466)aGa>aAa	p.R822K	APOBR_ENST00000431282.1_Missense_Mutation_p.R813K|APOBR_ENST00000328423.5_Missense_Mutation_p.R813K	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	813	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GTGACTGGCAGAGGCAGCCAA	0.607000													8	22					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122830047	122830047	+	Missense_Mutation	SNP	G	G	T	rs148898121		TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:122830047G>T	ENST00000227349.2	+	9	2528	c.2231G>T	c.(2230-2232)gGg>gTg	p.G744V	C11orf63_ENST00000531316.1_Missense_Mutation_p.G744V	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	744										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACCTATGCTGGGAAAGAAGAA	0.428000													17	68					9.7654e-05	0.000100383	1	1	0
MET	4233	broad.mit.edu	37	7	116436059	116436059	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr7:116436059G>T	ENST00000397752.3	+	21	4254	c.4054G>T	c.(4054-4056)Gtg>Ttg	p.V1352L	MET_ENST00000318493.6_Missense_Mutation_p.V1370L|MET_ENST00000539704.1_Missense_Mutation_p.V222L	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1352	Interaction with MUC20.|Interaction with RANBP9.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTATGTCCATGTGAACGCTAC	0.488000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				52	85					6.27289e-28	6.81921e-28	1	1	0
STX4	6810	broad.mit.edu	37	16	31045531	31045531	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:31045531C>T	ENST00000394998.1	+	4	454	c.111C>T	c.(109-111)ctC>ctT	p.L37L	STX4_ENST00000493902.1_Intron|STX4_ENST00000313843.3_Intron	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	34					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TCAGCCCTCTCGGTCACCCTC	0.582000													25	134					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135494524	135494524	+	Splice_Site	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrX:135494524T>C	ENST00000394143.1	+	24	9327	c.9036T>C	c.(9034-9036)tcT>tcC	p.S3012S	GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Splice_Site_p.S2807S|GPR112_ENST00000370652.1_Splice_Site_p.S3012S|GPR112_ENST00000412101.1_Splice_Site_p.S2807S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3012					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)					ATAACTCTTCTGGTAAGATGT	0.398000													11	8					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106763087	106763087	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:106763087G>A	ENST00000228347.4	+	5	484	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	POLR3B_ENST00000539066.1_Missense_Mutation_p.E30K	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	88					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TCCTGATGTTGAAGAAAGCTT	0.353000													32	164					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739100	91739100	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:91739100G>A	ENST00000389857.6	-	30	6042	c.5956C>T	c.(5956-5958)Ccc>Tcc	p.P1986S	CCDC88C_ENST00000331194.7_Missense_Mutation_p.P510S	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1986					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCCAAATCGGGAGACCGACCT	0.716000													6	22					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85984947	85984947	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:85984947C>A	ENST00000383699.3	+	7	1358	c.731C>A	c.(730-732)aCt>aAt	p.T244N	CADM2_ENST00000405615.2_Missense_Mutation_p.T237N|CADM2_ENST00000407528.2_Missense_Mutation_p.T235N	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	235	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATACCATCGACTCCTTTTCCA	0.299000													20	151					3.62473e-10	3.82732e-10	1	1	0
NEK8	284086	broad.mit.edu	37	17	27062381	27062381	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:27062381G>A	ENST00000268766.6	+	4	644	c.610G>A	c.(610-612)Gag>Aag	p.E204K	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	204	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GAGGGCTTTCGAGGCTGCGGT	0.602000													4	10					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50745865	50745865	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:50745865G>A	ENST00000300589.2	+	4	2148	c.2043G>A	c.(2041-2043)ctG>ctA	p.L681L		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	681					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)				TGGCAGGGCTGTTGTCCCGGG	0.672000													10	19					0	0	1	0	0
NTS	4922	broad.mit.edu	37	12	86268211	86268211	+	Silent	SNP	A	A	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:86268211A>G	ENST00000256010.6	+	1	137	c.30A>G	c.(28-30)gtA>gtG	p.V10V	NTS_ENST00000551529.1_Silent_p.V10V	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	10					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity			large_intestine(2)|lung(6)	8						TCCAGCTTGTATGCATGCTAC	0.453000													44	45					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102751143	102751143	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:102751143G>A	ENST00000504592.1	+	6	622	c.204G>A	c.(202-204)ttG>ttA	p.L68L	BANK1_ENST00000428908.1_Intron|BANK1_ENST00000322953.4_Silent_p.L83L|BANK1_ENST00000444316.2_Silent_p.L53L|BANK1_ENST00000508653.1_Intron			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	83	Interaction with ITPR2.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GTAAACTTTTGATATTATCAA	0.358000													42	50					0	0	1	0	0
MRS2	57380	broad.mit.edu	37	6	24423839	24423839	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:24423839C>G	ENST00000378386.3	+	11	1342	c.1249C>G	c.(1249-1251)Ctg>Gtg	p.L417V	MRS2_ENST00000535061.1_Missense_Mutation_p.L367V|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000443868.2_Missense_Mutation_p.L420V|MRS2_ENST00000543597.1_Missense_Mutation_p.L126V	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	417					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						AAAGACTCTTCTGGCAGATAG	0.363000													3	54					0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113740235	113740235	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:113740235C>T	ENST00000512097.3	+	4	1701	c.683C>T	c.(682-684)cCc>cTc	p.P228L	KCNN2_ENST00000264773.3_Missense_Mutation_p.P228L|KCNN2_ENST00000507750.1_Intron			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	228						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GCTATTCATCCCATACCTGGG	0.448000													16	115					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158834168	158834168	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:158834168G>A	ENST00000367097.3	+	2	1681	c.324G>A	c.(322-324)gtG>gtA	p.V108V	TULP4_ENST00000367094.2_Silent_p.V108V	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	108					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCATATTCGTGTGGATTCAGT	0.592000													8	24					0	0	1	0	0
KRCC1	51315	broad.mit.edu	37	2	88327491	88327491	+	Missense_Mutation	SNP	T	T	G	rs139392416	byFrequency	TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:88327491T>G	ENST00000347055.3	-	4	985	c.592A>C	c.(592-594)Aag>Cag	p.K198Q		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	198	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TCTGTTTTCTTTCTTTGGATG	0.398000													17	193					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100234693	100234693	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:100234693C>G	ENST00000355295.4	+	10	2155	c.1860C>G	c.(1858-1860)taC>taG	p.Y620*	TDRD7_ENST00000422139.2_Nonsense_Mutation_p.Y546*|TDRD7_ENST00000540902.1_5'UTR	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	620					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TTGTTCTGTACGATACCTCAG	0.423000													41	68					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55607106	55607106	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:55607106T>A	ENST00000378396.1	+	1	879	c.879T>A	c.(877-879)agT>agA	p.S293R		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGATCTACAGTCTGAGAAATA	0.368000													5	24					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31154747	31154747	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:31154747T>A	ENST00000268281.4	-	8	1074	c.1016A>T	c.(1015-1017)cAg>cTg	p.Q339L	PRSS36_ENST00000569305.1_Missense_Mutation_p.Q339L|PRSS36_ENST00000418068.2_Missense_Mutation_p.Q339L	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	339	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CACCATCACCTGGGCCTCCCA	0.652000													8	50					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12386873	12386873	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:12386873C>T	ENST00000356109.5	-	3	290	c.172G>A	c.(172-174)Gct>Act	p.A58T	ZNF44_ENST00000355684.5_Missense_Mutation_p.A10T	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AAGTTCACAGCCACATCCTCA	0.453000													78	128					0	0	1	0	0
E2F6	1876	broad.mit.edu	37	2	11593846	11593846	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:11593846G>T	ENST00000381525.3	-	3	511	c.242C>A	c.(241-243)tCt>tAt	p.S81Y	E2F6_ENST00000542100.1_Missense_Mutation_p.S6Y|E2F6_ENST00000546212.1_Missense_Mutation_p.S6Y|E2F6_ENST00000307236.4_Missense_Mutation_p.S49Y|E2F6_ENST00000362009.4_Missense_Mutation_p.S81Y	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	81					negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		CCCGGGAGCAGATCTGACAAG	0.408000													38	87					9.62906e-15	1.03074e-14	1	1	0
COL20A1	57642	broad.mit.edu	37	20	61941827	61941827	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr20:61941827G>T	ENST00000422202.1	+	10	1447	c.1379G>T	c.(1378-1380)gGg>gTg	p.G460V	COL20A1_ENST00000358894.6_Missense_Mutation_p.G453V|COL20A1_ENST00000326996.6_Missense_Mutation_p.G453V|COL20A1_ENST00000435874.1_Missense_Mutation_p.G460V			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	453	Fibronectin type-III 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TATGAGGGCGGGGTTGGCGAA	0.682000													3	7					0.115264	0.115429	1	1	0
PLCH2	9651	broad.mit.edu	37	1	2411398	2411398	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:2411398G>A	ENST00000449969.1	+	3	577	c.416G>A	c.(415-417)cGc>cAc	p.R139H	PLCH2_ENST00000419816.2_Missense_Mutation_p.R166H|PLCH2_ENST00000378486.3_Missense_Mutation_p.R166H|PLCH2_ENST00000378488.3_Missense_Mutation_p.R166H|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	166	Necessary for plasma membrane localization (By similarity).|PH.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CTGGCTCGCCGCCAGCGCACC	0.687000													7	46					0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110461420	110461420	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:110461420A>C	ENST00000506538.2	+	22	3206	c.2633A>C	c.(2632-2634)aAa>aCa	p.K878T	WDR36_ENST00000513710.2_Missense_Mutation_p.K878T	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	878					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AGCTTCTTGAAAATGATTGGG	0.438000													20	70					0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179820468	179820468	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:179820468G>A	ENST00000367612.3	-	4	452	c.65C>T	c.(64-66)tCa>tTa	p.S22L	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.S22L	NM_145034.4	NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	22						endoplasmic reticulum membrane|integral to membrane	protein binding	p.S22L(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						AGAATTTACTGATGGATCATT	0.368000													15	30					0	0	1	0	0
COX6C	1345	broad.mit.edu	37	8	100904183	100904183	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:100904183T>A	ENST00000520468.2	-	2	521	c.67A>T	c.(67-69)Atg>Ttg	p.M23L	COX6C_ENST00000297564.2_Missense_Mutation_p.M23L|COX6C_ENST00000517682.2_Missense_Mutation_p.M23L|COX6C_ENST00000522940.1_Missense_Mutation_p.M23L|COX6C_ENST00000520271.1_Missense_Mutation_p.M23L|COX6C_ENST00000523016.1_Missense_Mutation_p.M23L|COX6C_ENST00000524245.1_Missense_Mutation_p.M23L|COX6C_ENST00000518171.1_Missense_Mutation_p.M23L	NM_004374.3	NP_004365.1	P09669	COX6C_HUMAN	cytochrome c oxidase subunit VIc	23					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	p.M23V(1)	HMGA2/COX6C(2)	liver(1)|lung(2)	3			all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GCTACAGCCATATGATTTCGC	0.458000			T	HMGA2	uterine leiomyoma								131	175					0	0	1	0	0
CD81	975	broad.mit.edu	37	11	2411732	2411732	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:2411732C>T	ENST00000263645.5	+	2	413	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	CD81_ENST00000492627.1_5'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.P91S|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000526072.1_5'UTR	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	53					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGGAGACAAGCCCGCGCCCAA	0.617000													9	41					0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139090785	139090785	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:139090785G>A	ENST00000371746.3	-	4	708	c.590C>T	c.(589-591)tCc>tTc	p.S197F	LHX3_ENST00000371748.5_Missense_Mutation_p.S192F	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	192					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S197Y(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GCCCGTCTCGGACGAGAGCTG	0.741000													6	12					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17847757	17847757	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:17847757C>G	ENST00000448223.2	-	27	3360	c.3091G>C	c.(3091-3093)Gac>Cac	p.D1031H	SMC6_ENST00000402989.1_Missense_Mutation_p.D1031H|SMC6_ENST00000351948.4_Missense_Mutation_p.D1031H|SMC6_ENST00000381272.4_Missense_Mutation_p.D1057H	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	1031					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGTATCAAGTCCATGGCAATT	0.373000													3	45					0	0	1	0	0
RUVBL1	8607	broad.mit.edu	37	3	127831784	127831784	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:127831784G>A	ENST00000464873.1	-	3	878	c.128C>T	c.(127-129)tCa>tTa	p.S43L	RUVBL1_ENST00000417360.1_Missense_Mutation_p.S103L|RUVBL1_ENST00000322623.5_Missense_Mutation_p.S103L			Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	103					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		GATCTCAGTTGAGTAAACTTC	0.502000													18	38					0	0	1	0	0
FOXL2	668	broad.mit.edu	37	3	138665091	138665091	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:138665091C>T	ENST00000330315.3	-	1	891	c.474G>A	c.(472-474)gcG>gcA	p.A158A		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	158					convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						GCTGGAAGTGCGCGGGCGGCG	0.756000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						6	11					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8218509	8218509	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:8218509C>T	ENST00000361926.3	+	6	1284	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R392C	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	392					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCCTGGACCTCGCAACACCCT	0.647000													7	12					0	0	1	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149841	45149841	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr13:45149841T>C	ENST00000458659.2	-	1	860	c.370A>G	c.(370-372)Agt>Ggt	p.S124G	TSC22D1_ENST00000501704.2_Missense_Mutation_p.S124G	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	124					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GAGCTGATACTAGCGGAGATC	0.483000													106	55					0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32086784	32086784	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:32086784G>A	ENST00000375201.4	-	10	1137	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	ATF6B_ENST00000375203.3_Silent_p.L367L			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	367					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCTCTCGGCGGAGCTGCTGGT	0.612000													12	20					0	0	1	0	0
GYG1	2992	broad.mit.edu	37	3	148714612	148714612	+	Silent	SNP	C	C	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:148714612C>A	ENST00000345003.4	+	4	702	c.402C>A	c.(400-402)tcC>tcA	p.S134S	GYG1_ENST00000483267.1_Silent_p.S134S|GYG1_ENST00000296048.6_Silent_p.S134S|GYG1_ENST00000484197.1_Silent_p.S134S	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	134					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GCTTCAATTCCGGAGTCTTCG	0.428000													27	72					6.12954e-19	6.60176e-19	1	1	0
ARHGEF28	64283	broad.mit.edu	37	5	73048784	73048784	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:73048784G>A	ENST00000545377.1	+	4	408	c.232G>A	c.(232-234)Ggt>Agt	p.G78S	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.G78S|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.G78S|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.G78S|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.G78S|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.G78S	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		CTGCTCGGAAGGTTACTCTCC	0.582000													5	12					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256881	69256881	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:69256881C>G	ENST00000439696.2	-	2	687	c.386G>C	c.(385-387)tGt>tCt	p.C129S	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.C129S|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	129					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCCGTACTTACAGGCACCGTT	0.657000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	101					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139699038	139699038	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:139699038G>A	ENST00000338005.6	+	7	786	c.751G>A	c.(751-753)Gac>Aac	p.D251N	KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	251										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GAAGCTGATCGACAAGATCCA	0.627000													21	43					0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29684723	29684723	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr22:29684723G>A	ENST00000397938.2	+	8	1241	c.922G>A	c.(922-924)Gat>Aat	p.D308N	EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000406548.1_Missense_Mutation_p.D308N|EWSR1_ENST00000333395.6_Missense_Mutation_p.D308N|EWSR1_ENST00000332035.6_Missense_Mutation_p.D252N|EWSR1_ENST00000414183.2_Missense_Mutation_p.D314N|EWSR1_ENST00000331029.7_Missense_Mutation_p.D308N	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	308	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGGGGATTTGATCGTGGAGG	0.547000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								6	23					0	0	1	0	0
PEF1	553115	broad.mit.edu	37	1	32110456	32110456	+	Missense_Mutation	SNP	A	A	G	rs140479455		TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:32110456A>G	ENST00000373703.4	-	1	32	c.10T>C	c.(10-12)Tat>Cat	p.Y4H	RP11-73M7.6_ENST00000610043.1_RNA|PEF1_ENST00000440872.2_Missense_Mutation_p.Y4H|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.9_ENST00000581333.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	4					response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CGGTAAGGATAGCTGGCCATG	0.657000													3	6					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107978993	107978993	+	Silent	SNP	G	G	A	rs142601893	byFrequency	TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrX:107978993G>A	ENST00000372129.2	-	1	658	c.582C>T	c.(580-582)ctC>ctT	p.L194L		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	194	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGAGGCGGCTGAGCAGCAAGT	0.672000													18	14					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126238753	126238753	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:126238753T>C	ENST00000394329.3	+	1	1200	c.1187T>C	c.(1186-1188)gTg>gCg	p.V396A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	396	Cadherin 4.				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						AACATCTCCGTGCAAATTCTC	0.602000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	11					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67918015	67918015	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr16:67918015C>T	ENST00000358933.5	+	29	4409	c.4170C>T	c.(4168-4170)ctC>ctT	p.L1390L	CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1390					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GTCTCAGCCTCATGCTGCATG	0.612000											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	21					0	0	1	0	0
TRAM2	9697	broad.mit.edu	37	6	52380840	52380840	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:52380840G>T	ENST00000182527.3	-	4	374	c.375C>A	c.(373-375)ttC>ttA	p.F125L	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	125	TLC.				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding			endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					TCACCGAGGTGAAATGAAAGA	0.483000													46	121					1.30916e-28	1.4254e-28	1	1	0
SCAI	286205	broad.mit.edu	37	9	127790673	127790673	+	Nonsense_Mutation	SNP	A	A	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:127790673A>T	ENST00000336505.6	-	5	469	c.411T>A	c.(409-411)taT>taA	p.Y137*	SCAI_ENST00000373549.4_Nonsense_Mutation_p.Y160*	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion		Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTACTTACTAATAATGATAGT	0.353000													24	59					0	0	1	0	0
C15orf52	388115	broad.mit.edu	37	15	40627559	40627559	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:40627559C>T	ENST00000397536.2	-	7	810	c.775G>A	c.(775-777)Gag>Aag	p.E259K	C15orf52_ENST00000559313.1_Missense_Mutation_p.E469K			Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	469										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		ACTTCCAGCTCAGCCTGGTGA	0.662000													16	10					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38800076	38800076	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr15:38800076G>T	ENST00000310803.5	-	9	1270	c.1093C>A	c.(1093-1095)Ctg>Atg	p.L365M	RASGRP1_ENST00000450598.2_Missense_Mutation_p.L365M|RASGRP1_ENST00000561180.1_Missense_Mutation_p.L416M|RASGRP1_ENST00000558164.1_Missense_Mutation_p.L365M|RASGRP1_ENST00000539159.1_Missense_Mutation_p.L317M|RASGRP1_ENST00000559830.1_Missense_Mutation_p.L365M	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	365	Ras-GEF.				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)		GCTTCATACAGGGAGATGAGG	0.507000													7	13					6.40141e-05	6.59968e-05	1	1	0
DST	667	broad.mit.edu	37	6	56469916	56469916	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:56469916G>A	ENST00000370754.5	-	39	9410	c.9411C>T	c.(9409-9411)ttC>ttT	p.F3137F	DST_ENST00000361203.3_Silent_p.F2959F|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Silent_p.F2959F|DST_ENST00000446842.2_Silent_p.F2633F|DST_ENST00000370769.4_Silent_p.F2959F|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2959					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCCATCAGTGAATGACTCCT	0.348000													6	25					0	0	1	0	0
DNAJB1	3337	broad.mit.edu	37	19	14627647	14627647	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:14627647G>A	ENST00000254322.2	-	2	493	c.423C>T	c.(421-423)ttC>ttT	p.F141F	DNAJB1_ENST00000396969.4_Silent_p.F41F	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	141					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TCACGTTGGTGAAGCCACCCA	0.572000													23	60					0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168282123	168282123	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:168282123G>T	ENST00000367821.3	+	8	1281	c.1230G>T	c.(1228-1230)gaG>gaT	p.E410D	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	410					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TTCTGGGGGAGCCCTCGCTAA	0.637000													27	27					1.04121e-07	1.08953e-07	1	1	0
ZFP30	22835	broad.mit.edu	37	19	38135527	38135527	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:38135527G>T	ENST00000351218.2	-	4	677	c.120C>A	c.(118-120)agC>agA	p.S40R	ZFP30_ENST00000514101.2_Missense_Mutation_p.S40R|ZFP30_ENST00000392144.1_Missense_Mutation_p.S40R|ZFP30_ENST00000589018.1_Missense_Mutation_p.S40R	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACACCAAGTTGCTATAGTTCT	0.398000													100	82					1.39607e-43	1.52477e-43	1	1	0
PURA	5813	broad.mit.edu	37	5	139494615	139494615	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:139494615G>A	ENST00000331327.3	+	1	908	c.849G>A	c.(847-849)gaG>gaA	p.E283E		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	283					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATTCAAGAGAAGCAGAGGG	0.592000													13	42					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124953137	124953137	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:124953137C>T	ENST00000360647.4	-	8	1189	c.704G>A	c.(703-705)aGa>aAa	p.R235K	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.R235K|ZNF148_ENST00000485866.1_Missense_Mutation_p.R235K|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Missense_Mutation_p.R235K	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	235					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTGTATGAATCTCATACCACA	0.323000													45	95					0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28122374	28122374	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:28122374G>A	ENST00000535992.1	-	2	400	c.54C>T	c.(52-54)taC>taT	p.Y18Y	PTHLH_ENST00000538310.1_Silent_p.Y18Y|PTHLH_ENST00000201015.4_Silent_p.Y18Y|PTHLH_ENST00000354417.3_Silent_p.Y18Y|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395868.3_Silent_p.Y18Y|PTHLH_ENST00000539239.1_Silent_p.Y18Y|PTHLH_ENST00000545234.1_Silent_p.Y18Y|PTHLH_ENST00000395872.1_Silent_p.Y18Y			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	18					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					AGGGCACCGCGTAGCTCAGCA	0.706000													3	1					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42778862	42778862	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr21:42778862C>T	ENST00000330714.3	+	13	2026	c.1842C>T	c.(1840-1842)ccC>ccT	p.P614P		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	614					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CTCATTTTCCCAGTAATGAGT	0.463000													7	70					0	0	1	0	0
CNN2	1265	broad.mit.edu	37	19	1037663	1037663	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:1037663G>A	ENST00000263097.4	+	7	1057	c.694G>A	c.(694-696)Gat>Aat	p.D232N	CNN2_ENST00000562958.2_Missense_Mutation_p.D253N|CNN2_ENST00000565096.2_Missense_Mutation_p.D221N|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Missense_Mutation_p.D193N	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	232					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GCACATCTATGATACCAAGCT	0.632000													47	132					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31996242	31996242	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:31996242C>T	ENST00000435363.2	+	25	3247	c.3163C>T	c.(3163-3165)Cgg>Tgg	p.R1055W	C4B_ENST00000425700.2_Missense_Mutation_p.R1055W	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1055					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										AGGCTACATGCGGATCCAGCA	0.607000													3	34					0	0	1	0	0
CDC42	998	broad.mit.edu	37	1	22412971	22412971	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:22412971C>T	ENST00000344548.3	+	5	469	c.218C>T	c.(217-219)cCa>cTa	p.P73L	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000315554.8_Missense_Mutation_p.P73L|CDC42_ENST00000421089.2_Missense_Mutation_p.P115L|CDC42_ENST00000400259.1_Missense_Mutation_p.P73L	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	73					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		CTGAGTTATCCACAAACAGAT	0.383000													9	99					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427205	97427205	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:97427205G>A	ENST00000377075.2	+	1	567	c.469G>A	c.(469-471)Gac>Aac	p.D157N		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	157					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GGCCCAGCCCGACGGGCCCTG	0.627000													123	64					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30789833	30789833	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr20:30789833G>A	ENST00000246229.4	-	2	413	c.149C>T	c.(148-150)tCa>tTa	p.S50L		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	50						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCCCCATTTGAGAAAGGTGT	0.562000													30	43					0	0	1	0	0
INSM1	3642	broad.mit.edu	37	20	20350370	20350370	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr20:20350370C>T	ENST00000310227.1	+	1	1606	c.1459C>T	c.(1459-1461)Cac>Tac	p.H487Y		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	487					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CCTTACGCGGCACATCAACAA	0.697000													10	21					0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38146155	38146155	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:38146155G>C	ENST00000264639.4	+	5	1024	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	PSMD3_ENST00000541736.1_Missense_Mutation_p.E146Q	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	284					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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CAACAACAATGAGTGGGCCAG	0.542000													9	58					0	0	1	0	0
CTSK	1513	broad.mit.edu	37	1	150772126	150772126	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:150772126C>T	ENST00000271651.3	-	6	788	c.678G>A	c.(676-678)gaG>gaA	p.E226E		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	226					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTCGGGGATCTCTCTGTACC	0.502000													14	136					0	0	1	0	0
ZNF506	440515	broad.mit.edu	37	19	19917758	19917758	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:19917758G>A	ENST00000443905.2	-	2	270	c.123C>T	c.(121-123)atC>atT	p.I41I	ZNF506_ENST00000540806.2_Silent_p.I41I|ZNF506_ENST00000450683.2_Silent_p.I41I|ZNF506_ENST00000587461.1_Silent_p.I41I|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000545006.1_Silent_p.I41I|ZNF506_ENST00000587452.1_Silent_p.I41I|CTC-559E9.6_ENST00000591884.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CACCAAGGAAGATCAGGTTTC	0.363000													62	92					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86332830	86332830	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:86332830C>T	ENST00000263857.6	-	1	448	c.70G>A	c.(70-72)Gag>Aag	p.E24K	POLR1A_ENST00000409681.1_Missense_Mutation_p.E24K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	24					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TACTTGAGCTCTTCAGCCGAA	0.562000													20	41					0	0	1	0	0
SLC35D3	340146	broad.mit.edu	37	6	137243662	137243662	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr6:137243662C>T	ENST00000331858.4	+	1	261	c.96C>T	c.(94-96)ctC>ctT	p.L32L		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	32					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		TCAAGTTCCTCATCAGCCGCT	0.682000													6	16					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35792663	35792663	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:35792663C>T	ENST00000342694.2	+	1	513	c.258C>T	c.(256-258)gaC>gaT	p.D86D		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	86					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GCGCTGTGGACCTCAAGCTGT	0.662000													45	101					0	0	1	0	0
TRMT10A	93587	broad.mit.edu	37	4	100477342	100477342	+	Silent	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:100477342C>T	ENST00000273962.3	-	5	768	c.456G>A	c.(454-456)aaG>aaA	p.K152K	TRMT10A_ENST00000394876.2_Silent_p.K152K|TRMT10A_ENST00000394877.3_Silent_p.K152K	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)																		CATCCATGTTCTTTTTCAGCT	0.313000													7	33					0	0	1	0	0
ZFAND2B	130617	broad.mit.edu	37	2	220072409	220072409	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:220072409G>C	ENST00000409594.1	+	3	385	c.190G>C	c.(190-192)Gtg>Ctg	p.V64L	ZFAND2B_ENST00000409336.1_Missense_Mutation_p.V64L|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.V64L|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.V64L|ZFAND2B_ENST00000468301.1_3'UTR|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.V64L|ZFAND2B_ENST00000409319.1_Missense_Mutation_p.V64L|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.V64L|ZFAND2B_ENST00000409412.1_Missense_Mutation_p.V64L|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.V64L			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	64						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAATGTGCCTGTGCCTGTGGC	0.547000													23	21					0	0	1	0	0
TAF1D	79101	broad.mit.edu	37	11	93471565	93471565	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:93471565C>T	ENST00000448108.2	-	3	819	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TGAACACTTTCAGGTGTACGA	0.358000													16	39					0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35331267	35331267	+	Silent	SNP	A	A	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr14:35331267A>T	ENST00000360310.1	-	3	942	c.375T>A	c.(373-375)atT>atA	p.I125I	BAZ1A_ENST00000382422.2_Silent_p.I125I|BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000358716.4_Silent_p.I125I	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	125	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CATTGTTCCTAATGACTTCCA	0.373000													23	47					0	0	1	0	0
C10orf35	219738	broad.mit.edu	37	10	71392812	71392812	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:71392812G>A	ENST00000373279.4	+	4	522	c.363G>A	c.(361-363)cgG>cgA	p.R121R	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	121						integral to membrane				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						TGAGTCAGCGGTGACCTCTGA	0.582000													15	108					0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145151968	145151968	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:145151968G>C	ENST00000318911.4	+	6	877	c.804G>C	c.(802-804)aaG>aaC	p.K268N		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	268					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGATAGCCAAGGATGTGTGCA	0.587000													4	35					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114151937	114151937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:114151937G>A	ENST00000259335.4	-	32	3879	c.3880C>T	c.(3880-3882)Cag>Tag	p.Q1294*	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Nonsense_Mutation_p.Q1116*	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GGAACTAGCTGAGGCAGAAAA	0.453000													16	28					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021465	5021465	+	Silent	SNP	C	C	G			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr12:5021465C>G	ENST00000382545.3	+	2	2028	c.921C>G	c.(919-921)cgC>cgG	p.R307R	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	307					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGCTCTCCCGCCACTCTAAGG	0.547000													35	16					0	0	1	0	0
FUT4	2526	broad.mit.edu	37	11	94278138	94278138	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:94278138T>C	ENST00000358752.2	+	1	1122	c.839T>C	c.(838-840)cTg>cCg	p.L280P		NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	280					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCAGAAGCCCTGGCGACCTCC	0.711000													6	9					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95141008	95141008	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr10:95141008G>A	ENST00000371501.4	-	20	1966	c.1844C>T	c.(1843-1845)tCa>tTa	p.S615L	MYOF_ENST00000358334.5_Missense_Mutation_p.S602L|MYOF_ENST00000371502.4_Missense_Mutation_p.S615L|MYOF_ENST00000359263.4_Missense_Mutation_p.S615L			Q9NZM1	MYOF_HUMAN	myoferlin	615					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGAGTTGTTGATGCCAAAGG	0.483000													31	30					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20828525	20828525	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr19:20828525G>A	ENST00000601440.1	-	3	337	c.191C>T	c.(190-192)aCc>aTc	p.T64I	ZNF626_ENST00000291750.6_Missense_Mutation_p.T64I|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TCTCTTCATGGTCAAAGGTTT	0.378000													9	79					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119216117	119216117	+	Silent	SNP	G	G	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:119216117G>A	ENST00000296498.3	-	11	2298	c.2016C>T	c.(2014-2016)ctC>ctT	p.L672L	PRSS12_ENST00000510903.1_Intron	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	672	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GTGCTGCTGTGAGGACCCAGC	0.552000													18	24					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27092727	27092728	+	Frame_Shift_Ins	INS	-	-	AATA			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr1:27092727_27092728insAATA	ENST00000324856.7	+	9	3119_3120	c.2748_2749insAATA	c.(2749-2751)aatfs	p.-917fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.-917fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.-534fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGGCTACCCCAATATGAATCA	0.475			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								28	36	---	---	---	---					
BIRC6	57448	broad.mit.edu	37	2	32740564	32740577	+	Frame_Shift_Del	DEL	AGTTGGCAATAGCC	AGTTGGCAATAGCC	-			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr2:32740564_32740577delAGTTGGCAATAGCC	ENST00000421745.2	+	55	11210_11223	c.11076_11089delAGTTGGCAATAGCC	c.(11074-11091)gaagttggcaatagccatfs	p.VGNSH3693fs		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3693					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTTGACAGAAGTTGGCAATAGCCATATTATGAA	0.435													11	28	---	---	---	---					
GLT8D1	55830	broad.mit.edu	37	3	52730567	52730573	+	Frame_Shift_Del	DEL	GGATTCC	GGATTCC	-			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr3:52730567_52730573delGGATTCC	ENST00000407584.3	-	6	1282_1288	c.432_438delGGAATCC	c.(430-438)ggggaatccfs	p.GES144fs	GLT8D1_ENST00000478968.2_Frame_Shift_Del_p.GES144fs|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000394783.3_Frame_Shift_Del_p.GES144fs|GLT8D1_ENST00000266014.5_Frame_Shift_Del_p.GES144fs|GLT8D1_ENST00000491606.1_Frame_Shift_Del_p.GES144fs	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	144						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAGGTTTCATGGATTCCCCCTGGTCAG	0.425													11	32	---	---	---	---					
LRBA	987	broad.mit.edu	37	4	151223814	151223841	+	Frame_Shift_Del	DEL	CCAATACCACAGCAAAAGAGTTGCATCA	CCAATACCACAGCAAAAGAGTTGCATCA	-	rs146567994		TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr4:151223814_151223841delCCAATACCACAGCAAAAGAGTTGCATCA	ENST00000535741.1	-	53	8426_8453	c.7953_7980delTGATGCAACTCTTTTGCTGTGGTATTGG	c.(7951-7980)cgtgatgcaactcttttgctgtggtattggfs	p.RDATLLLWYW2651fs	LRBA_ENST00000357115.3_Frame_Shift_Del_p.RDATLLLWYW2662fs|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Frame_Shift_Del_p.RDATLLLWYW2651fs			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2662						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.D2663Y(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATTTTCCATTCCAATACCACAGCAAAAGAGTTGCATCACGTGACCCTG	0.412													7	85	---	---	---	---					
MYO10	4651	broad.mit.edu	37	5	16701909	16701910	+	Frame_Shift_Ins	INS	-	-	A			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr5:16701909_16701910insA	ENST00000513610.1	-	25	3048_3049	c.2594_2595insT	c.(2593-2595)ttgfs	p.L865fs	MYO10_ENST00000505695.1_Frame_Shift_Ins_p.L204fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.L204fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.L222fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.L222fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	865					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGCTCTTCTGCAAGGCTTCGAG	0.490													13	24	---	---	---	---					
BLK	640	broad.mit.edu	37	8	11407730	11407731	+	Frame_Shift_Ins	INS	-	-	GGCCG			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:11407730_11407731insGGCCG	ENST00000259089.4	+	6	1023_1024	c.431_432insGGCCG	c.(430-435)aaggccfs	p.-146fs	BLK_ENST00000529894.1_Frame_Shift_Ins_p.-75fs	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase						intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCAATCAACAAGGCCGGCTCCT	0.559													11	61	---	---	---	---					
CHRNA6	8973	broad.mit.edu	37	8	42611400	42611422	+	Frame_Shift_Del	DEL	GACAAAGATCATGGTGAACAGCA	GACAAAGATCATGGTGAACAGCA	-	rs35812517		TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:42611400_42611422delGACAAAGATCATGGTGAACAGCA	ENST00000276410.2	-	5	1275_1297	c.920_942delTGCTGTTCACCATGATCTTTGTC	c.(919-942)ctgctgttcaccatgatctttgtcfs	p.LLFTMIFV307fs	CHRNA6_ENST00000534622.1_Frame_Shift_Del_p.LLFTMIFV292fs	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	307						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGGACAGTGTGACAAAGATCATGGTGAACAGCAGGTACTCACC	0.498													12	65	---	---	---	---					
CDH17	1015	broad.mit.edu	37	8	95178028	95178036	+	In_Frame_Del	DEL	TATCTTGCT	TATCTTGCT	-			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr8:95178028_95178036delTATCTTGCT	ENST00000027335.3	-	10	1359_1367	c.1235_1243delAGCAAGATA	c.(1234-1245)aagcaagatact>act	p.KQD412del	CDH17_ENST00000450165.2_In_Frame_Del_p.KQD412del|CDH17_ENST00000441892.2_In_Frame_Del_p.KQD198del	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	412	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TACTGAGGAGTATCTTGCTTCTTCAAGGA	0.407													44	112	---	---	---	---					
REXO4	57109	broad.mit.edu	37	9	136282872	136282873	+	Frame_Shift_Ins	INS	-	-	T			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr9:136282872_136282873insT	ENST00000371942.3	-	1	291_292	c.92_93insA	c.(91-93)aacfs	p.N31fs	ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Frame_Shift_Ins_p.N31fs|REXO4_ENST00000478037.1_5'UTR	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	31						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTTTCTTCTTGTTTTTCTTCCG	0.604													84	164	---	---	---	---					
GUCY1A2	2977	broad.mit.edu	37	11	106579265	106579267	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr11:106579265_106579267delCGC	ENST00000526355.2	-	7	2430_2432	c.1962_1964delGCG	c.(1960-1965)cggcgc>cgc	p.654_655RR>R	GUCY1A2_ENST00000282249.2_In_Frame_Del_p.685_686RR>R|GUCY1A2_ENST00000347596.2_In_Frame_Del_p.675_676RR>R	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2						intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GACATTGATGCGCCGAGGGTGAC	0.527													10	22	---	---	---	---					
SPATA32	124783	broad.mit.edu	37	17	43332964	43332978	+	In_Frame_Del	DEL	GGCCTCCCGGAGCGG	GGCCTCCCGGAGCGG	-	rs139446441	by1000genomes	TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr17:43332964_43332978delGGCCTCCCGGAGCGG	ENST00000543122.1	-	6	1289_1303	c.508_522delCCGCTCCGGGAGGCC	c.(508-522)ccgctccgggaggccdel	p.PLREA170del	MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000331780.4_In_Frame_Del_p.PLREA191del|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA					spermatogenesis associated 32									p.P191L(1)									TGGTGGGGATGGCCTCCCGGAGCGGGGATCTGATG	0.637													10	60	---	---	---	---					
SLC23A2	9962	broad.mit.edu	37	20	4880206	4880207	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr20:4880206_4880207delTC	ENST00000379333.1	-	6	868_869	c.476_477delGA	c.(475-477)ggafs	p.G159fs	SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.G159fs|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.G159fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	159					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTCACCTGCATCCAAACGTTGT	0.550													98	181	---	---	---	---					
CHD6	84181	broad.mit.edu	37	20	40042097	40042108	+	In_Frame_Del	DEL	CCTGGCCCCTCA	CCTGGCCCCTCA	-	rs35107152		TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr20:40042097_40042108delCCTGGCCCCTCA	ENST00000373233.3	-	35	7164_7175	c.6987_6998delTGAGGGGCCAGG	c.(6985-6999)cctgaggggccaggg>ccg	p.EGPG2330del	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2330					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGTGGCAGGCCCTGGCCCCTCAGGGTGTGTGG	0.552													5	11	---	---	---	---					
PICK1	9463	broad.mit.edu	37	22	38455260	38455260	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chr22:38455260delG	ENST00000404072.3	+	3	408	c.61delG	c.(61-63)gggfs	p.G21fs	PICK1_ENST00000468288.1_3'UTR|RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Frame_Shift_Del_p.G21fs	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	21					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GACTGTGCCTGGGAAGGTGAC	0.577													2	4	---	---	---	---					
ARX	170302	broad.mit.edu	37	X	25025306	25025322	+	Frame_Shift_Del	DEL	CCGCTGGGCGGCAGGCT	CCGCTGGGCGGCAGGCT	-			TCGA-4Z-AA84-01A-11D-A391-08	TCGA-4Z-AA84-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	658bd4ea-d83d-4393-b14f-fb6dab30c44a	e949a0dd-8e59-477d-9a67-c006dfcbecd1	g.chrX:25025306_25025322delCCGCTGGGCGGCAGGCT	ENST00000379044.4	-	4	1564_1580	c.1354_1370delAGCCTGCCGCCCAGCGG	c.(1354-1371)agcctgccgcccagcgggfs	p.SLPPSG452fs		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	452	Ala-rich.|Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						CAGCGGCGCCCCGCTGGGCGGCAGGCTGGCCGAGCCC	0.733													8	0	---	---	---	---					
