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
TLN2	83660	broad.mit.edu	37	15	62978869	62978869	+	Silent	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:62978869G>T	uc002alb.4	+	8	987	c.987G>T	c.(985-987)gtG>gtT	p.V329V		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	329	FERM.|Interaction with PIP5K1C (By similarity).				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.V329V(2)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACAAGCTGGTGCCTCGCCTGC	0.537000													12	31					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884778	38884778	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr21:38884778G>C	uc002ywk.3	+	10	2312	c.2236G>C	c.(2236-2238)Gaa>Caa	p.E746Q	DYRK1A_uc002ywi.3_3'UTR|DYRK1A_uc002ywj.3_Missense_Mutation_p.E737Q|DYRK1A_uc002ywm.3_3'UTR|DYRK1A_uc011aei.2_Missense_Mutation_p.E507Q	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	746					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.E746Q(2)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGCTGATAGAGAAGAGTCCCC	0.438000													7	178					0	0	1	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293806	71293806	+	Silent	SNP	A	A	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:71293806A>T	uc001oqu.3	-	0	116	c.78T>A	c.(76-78)tcT>tcA	p.S26S		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.	26						keratin filament		p.S26S(2)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCACAGCCAGAGCCACAGC	0.637000													8	32					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94060090	94060090	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:94060090C>A	uc001ybv.1	+	19	2649	c.2566C>A	c.(2566-2568)Cat>Aat	p.H856N	UNC79_uc001ybs.1_Missense_Mutation_p.H856N	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1033						integral to membrane		p.H856N(1)|p.H1033N(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCTTCTCCTCCATGCCCTGTC	0.493000													5	279					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78260259	78260259	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:78260259T>G	uc003kfq.3	-	2	1956	c.670A>C	c.(670-672)Act>Cct	p.T224P	ARSB_uc003kfr.4_Missense_Mutation_p.T224P	NM_000046	NP_000037	P15848	ARSB_HUMAN	Homo sapiens arylsulfatase B (ARSB), transcript variant 1, mRNA.	224					lysosomal transport|lysosome organization	lysosome	N-acetylgalactosamine-4-sulfatase activity|arylsulfatase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GGATGGTTAGTTATGAGGGCT	0.363000													3	191					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47845307	47845307	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:47845307C>T	uc002xuh.3	+	7	916	c.855C>T	c.(853-855)cgC>cgT	p.R285R		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	285	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R285R(3)|p.R285S(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATAAACCCCGCCAGGCTCCAG	0.572000													109	226					0	0	1	0	0
MICU1	10367	broad.mit.edu	37	10	74135571	74135571	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:74135571C>G	uc001jtb.2	-	10	1423	c.1240G>C	c.(1240-1242)Gat>Cat	p.D414H	MIR1256_uc021pth.1_Intron|MICU1_uc010qjx.2_Missense_Mutation_p.D216H|MICU1_uc010qjw.2_Missense_Mutation_p.D216H|MICU1_uc009xqo.2_Non-coding_Transcript	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	Homo sapiens mitochondrial calcium uptake 1 (MICU1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	414	EF-hand 2.				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	p.D414H(1)|p.D416H(1)									AACACCACATCACACACGTGG	0.537000													6	22					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43259290	43259290	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:43259290G>T	uc002ouo.2	-	3	936	c.838C>A	c.(838-840)Ctc>Atc	p.L280I	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.L280I|PSG8_uc010ein.3_Missense_Mutation_p.L158I|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	280	Ig-like C2-type 2.					extracellular region		p.L280I(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTGACCGGGAGGCTCTGACCA	0.448000													75	469					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207266	58207266	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:58207266C>T	uc010rkh.2	-	0	381	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120H(2)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTGCATAGCGGTCATAGGC	0.433000													48	112					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35855556	35855556	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:35855556A>G	uc001byt.3	+	14	2524	c.2444A>G	c.(2443-2445)aAa>aGa	p.K815R	ZMYM4_uc009vuu.3_Missense_Mutation_p.K783R|ZMYM4_uc001byu.3_Missense_Mutation_p.K491R|ZMYM4_uc009vuv.3_Missense_Mutation_p.K554R	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	815					multicellular organismal development		DNA binding|zinc ion binding	p.K815R(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAGATGGCCAAATGTGATGCT	0.368000													24	87					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1976594	1976594	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:1976594G>A	uc003gdz.4	+	18	3553	c.3377G>A	c.(3376-3378)cGt>cAt	p.R1126H	WHSC1_uc003geb.4_Missense_Mutation_p.R1126H|WHSC1_uc003gec.4_Missense_Mutation_p.R1126H|WHSC1_uc003ged.4_Missense_Mutation_p.R1126H|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_Missense_Mutation_p.R345H|WHSC1_uc011bvh.2_Missense_Mutation_p.R187H|WHSC1_uc010icf.3_Missense_Mutation_p.R474H	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	1126	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TTACAGGACCGTATAATAGAC	0.428000			T	IGH@	MM								4	220					0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22836734	22836734	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22836734C>A	uc002nqw.3	+	2	291	c.47C>A	c.(46-48)tCt>tAt	p.S16Y		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S16Y(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATTGCTGCCTCTAAGCCAGAC	0.398000													14	151					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476346	140476346	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:140476346G>A	uc003lil.3	+	0	2110	c.1972G>A	c.(1972-1974)Gcc>Acc	p.A658T	PCDHB2_uc003lim.1_Missense_Mutation_p.A319T	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	658	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A658T(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.711000													23	58					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74318818	74318818	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chrX:74318818C>A	uc004ebz.3	-	3	440	c.415G>T	c.(415-417)Gct>Tct	p.A139S	ABCB7_uc010nlt.3_Intron|ABCB7_uc004eca.3_Missense_Mutation_p.A138S|ABCB7_uc011mqn.2_Missense_Mutation_p.A112S|ABCB7_uc010nls.3_Intron	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	138					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	p.A139S(2)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GCAACTCTAGCTCGTAGATCT	0.363000													55	70					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103090670	103090670	+	Silent	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:103090670T>G	uc001phn.1	+	55	9003	c.8859T>G	c.(8857-8859)ctT>ctG	p.L2953L	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.L2953L	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2953	Stalk (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.L386L(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAACAGAACTTGAAAGACTGA	0.259000													3	8					0	0	1	0	0
TSPAN7	7102	broad.mit.edu	37	X	38540490	38540490	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chrX:38540490G>C	uc011mkj.2	+	7	917	c.708G>C	c.(706-708)gaG>gaC	p.E236D	TSPAN7_uc004deg.4_Missense_Mutation_p.E210D|TSPAN7_uc011mkk.2_Missense_Mutation_p.E227D			P41732	TSN7_HUMAN	Homo sapiens tetraspanin 7 (TSPAN7), mRNA.	210					interspecies interaction between organisms	integral to plasma membrane		p.E210D(2)|p.E205D(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTTTCATGGAGACTAACATGG	0.478000													59	105					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113655223	113655223	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:113655223A>G	uc001edf.1	+	13	2119	c.1921A>G	c.(1921-1923)Act>Gct	p.T641A	LRIG2_uc009wgn.1_Missense_Mutation_p.T538A	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	641	Ig-like C2-type 2.					cytoplasm|integral to membrane|plasma membrane		p.T641A(3)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGATGGTGGTACTGACTTTCC	0.493000													5	201					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61034970	61034970	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:61034970C>T	uc001nra.3	-	15	2208	c.1929G>A	c.(1927-1929)ccG>ccA	p.P643P	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	643	VWFC 5.					extracellular region	calcium ion binding	p.P643P(2)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCAGCACAGACGGGAAGGTCT	0.597000													40	83					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089935	113089935	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:113089935A>G	uc002thq.1	+	11	3834	c.3440A>G	c.(3439-3441)gAt>gGt	p.D1147G		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	1147							nucleic acid binding|zinc ion binding	p.D1147G(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAGTACAGTGATCCAAGGCAG	0.517000													6	149					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3251194	3251194	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:3251194C>T	uc002wii.2	-	29	2716	c.2665G>A	c.(2665-2667)Gtg>Atg	p.V889M	C20orf194_uc002wij.3_Missense_Mutation_p.V628M|C20orf194_uc002wik.2_Missense_Mutation_p.V563M	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	889								p.V889M(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GTGAATACCACGTTACTCACC	0.557000													11	103					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317551	31317551	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:31317551G>A	uc003jhe.2	+	9	1942	c.1582G>A	c.(1582-1584)Gcc>Acc	p.A528T	CDH6_uc003jhd.2_Missense_Mutation_p.A528T	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	528	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.A528T(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTTTTCCTTGGCCCCTGAAGC	0.413000													51	163					0	0	1	0	0
GNAO1	2775	broad.mit.edu	37	16	56362633	56362633	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:56362633T>C	uc002eit.4	+	3	1291	c.394T>C	c.(394-396)Tgg>Cgg	p.W132R	GNAO1_uc002eiu.4_Missense_Mutation_p.W132R	NM_138736	NP_620073	P09471	GNAO_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA.	132					G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	p.W132R(4)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GATGCGGCTCTGGGGCGACTC	0.587000													16	91					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33990173	33990173	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:33990173C>T	uc001zhi.3	+	39	6295	c.6225C>T	c.(6223-6225)aaC>aaT	p.N2075N	RYR3_uc010bar.3_Silent_p.N2075N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2075	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.N2075N(3)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATGGTGAACGTGTTGGGTA	0.493000													47	212					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16257094	16257094	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:16257094C>T	uc001axk.1	+	10	4563	c.4359C>T	c.(4357-4359)tcC>tcT	p.S1453S	SPEN_uc010obp.1_Silent_p.S1412S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1453					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding	p.S1453S(2)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGCTAAATCCCTCTCTTCAT	0.363000													66	163					0	0	1	0	0
PON2	5445	broad.mit.edu	37	7	95053856	95053856	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:95053856A>G	uc003unv.3	-	1	237	c.116T>C	c.(115-117)cTt>cCt	p.L39P	PON2_uc003unu.3_Missense_Mutation_p.L39P|PON2_uc010lfk.3_Non-coding_Transcript|PON2_uc003unw.3_5'UTR	NM_000305	NP_000296	Q15165	PON2_HUMAN	Homo sapiens paraoxonase 2 (PON2), transcript variant 1, mRNA.	39					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	p.L39P(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GCAGTGTGGAAGGTCTACAGA	0.333000													16	183					0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26407900	26407900	+	Splice_Site	SNP	A	A	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:26407900A>T	uc003nhv.3	+	4	802	c.434_splice	c.e4-1	p.A145_splice	BTN3A1_uc011dkj.2_Splice_Site_p.A145_splice|BTN3A1_uc010jqj.3_Splice_Site_p.A145_splice|BTN3A1_uc011dkk.2_Intron	NM_007048	NP_008979	O00481	BT3A1_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A1 (BTN3A1), transcript variant 1, mRNA.	145	Ig-like V-type 2.				lipid metabolic process	integral to membrane		p.A145A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTTCCACAGCACTGGGTTCTG	0.473000													4	111					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66259193	66259193	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:66259193C>T	uc001oig.1	+	8	1016	c.954C>T	c.(952-954)taC>taT	p.Y318Y	DPP3_uc001oif.1_Silent_p.Y318Y|DPP3_uc010rpe.1_Silent_p.Y307Y	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	318					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	p.Y318Y(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCGAGAGCTACCGCGACCCCT	0.612000													6	390					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692871	89692871	+	Missense_Mutation	SNP	G	G	T	rs139767111		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:89692871G>T	uc001kfb.3	+	4	1387	c.355G>T	c.(355-357)Gtt>Ttt	p.V119F	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	119	Phosphatase tensin-type.		V -> L (in multiple cancers).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.V119fs*15(4)|p.V119F(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H118fs*8(2)|p.H118R(1)|p.H118L(1)|p.V119D(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGACAATCATGTTGCAGCAAT	0.403000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			58	83					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828704	144828704	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:144828704T>G	uc009wig.1	+	21	2937	c.2743T>G	c.(2743-2745)Tac>Gac	p.Y915D	NBPF10_uc010oxo.1_Missense_Mutation_p.Y842D|NBPF10_uc010oxn.1_Missense_Mutation_p.Y815D|NBPF10_uc021oth.1_Missense_Mutation_p.Y577D|NBPF10_uc021otj.1_Missense_Mutation_p.Y944D|NBPF10_uc021oto.1_Missense_Mutation_p.Y732D|NBPF10_uc021otr.1_Missense_Mutation_p.Y244D|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Y488D|NBPF10_uc010oyd.1_Missense_Mutation_p.Y244D|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	917								p.L657L(3)|p.Y584D(1)		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)		CTTCGCCCTTTACGTGGACAA	0.438000													6	499					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51883662	51883662	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr12:51883662G>A	uc001rys.1	+	18	2805	c.2627G>A	c.(2626-2628)cGa>cAa	p.R876Q	SLC4A8_uc001rym.3_Missense_Mutation_p.R823Q|SLC4A8_uc001ryn.3_Missense_Mutation_p.R823Q|SLC4A8_uc001ryo.2_Missense_Mutation_p.R823Q|SLC4A8_uc010snj.2_Missense_Mutation_p.R903Q|SLC4A8_uc001ryr.3_Missense_Mutation_p.R876Q	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	876					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTGGGCATCCGAGAACAGAGA	0.473000													5	329					0	0	1	0	0
SUMF2	25870	broad.mit.edu	37	7	56142370	56142370	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:56142370G>A	uc011kcw.2	+	4	564	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Intron|SUMF2_uc003trt.3_Missense_Mutation_p.R71Q|SUMF2_uc003trv.3_Missense_Mutation_p.R178Q|SUMF2_uc011kcy.2_Missense_Mutation_p.R163Q|SUMF2_uc011kcz.2_Intron|SUMF2_uc003trx.3_Intron|SUMF2_uc011kda.2_Intron|SUMF2_uc011kcx.2_Intron	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.	159						endoplasmic reticulum lumen	metal ion binding	p.R159L(1)|p.R178L(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTGCTTGGCGGGGAAAACGA	0.587000											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	226					0	0	1	0	0
G2E3	55632	broad.mit.edu	37	14	31066642	31066642	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:31066642C>T	uc001wqk.2	+	6	699	c.545C>T	c.(544-546)gCg>gTg	p.A182V	G2E3_uc010tpe.1_Missense_Mutation_p.A136V|G2E3_uc010tpf.1_Missense_Mutation_p.A136V	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.	182					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.A182V(2)|p.A182A(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCAATAAATGCGGGAGTGTTT	0.313000													9	380					0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635274	122635274	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:122635274C>A	uc003vkl.1	-	0	481	c.415G>T	c.(415-417)Gta>Tta	p.V139L		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	139					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.V139L(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGATTGTTACACAAGTAATC	0.403000													4	171					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108205768	108205768	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:108205768G>A	uc001pkb.1	+	54	8468	c.8083G>A	c.(8083-8085)Ggt>Agt	p.G2695S	ATM_uc009yxr.1_Missense_Mutation_p.G2695S|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.G1347S	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2695			G -> A (in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia).		DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|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 N-terminus binding|protein complex binding|protein dimerization activity	p.G2695S(6)|p.G2695C(3)|p.G2695A(2)|p.G2695delG(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)		CTTAGCAGGAGGTGTAAATTT	0.398000			"""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)			28	185					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54635836	54635836	+	Splice_Site	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:54635836A>G	uc003jpy.4	+	6	782	c.516_splice	c.e6-2	p.E172_splice	SKIV2L2_uc011cqi.2_Splice_Site_p.E71_splice	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	172	Helicase ATP-binding.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.?(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TCACATTTGTAGGTATGCCAT	0.303000													25	120					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84694822	84694822	+	Silent	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:84694822A>G	uc003uic.3	-	5	676	c.636T>C	c.(634-636)gaT>gaC	p.D212D	SEMA3D_uc010led.3_Silent_p.D212D|SEMA3D_uc010lee.1_Silent_p.D212D	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	212	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.D212D(2)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGAATGCAGTATCTTTGCCAA	0.423000													6	95					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57962799	57962799	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr12:57962799C>T	uc001sor.1	+	8	976	c.768C>T	c.(766-768)aaC>aaT	p.N256N	KIF5A_uc010srr.1_Silent_p.N167N	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	256	Kinesin-motor.|Microtubule-binding.		Missing (in SPG10).|N -> S (in SPG10; slightly decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover).		blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.N256N(2)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGAATATCAACAAGTCACTGT	0.557000													16	97					0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46262165	46262165	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:46262165G>A	uc002ini.1	-	6	599	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	SKAP1_uc002inj.1_Missense_Mutation_p.R163W|SKAP1_uc010dbd.1_Missense_Mutation_p.R69W|SKAP1_uc010dbe.1_Missense_Mutation_p.R163W	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	163	PH.				T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding	p.R163W(2)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGGGCCATCCGTACACCGTAG	0.542000													29	165					0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79255008	79255008	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:79255008C>G	uc002snw.3	+	4	494	c.409C>G	c.(409-411)Ccc>Gcc	p.P137A	REG3G_uc002snx.3_Missense_Mutation_p.P137A|REG3G_uc010ffu.3_Missense_Mutation_p.P91A	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	137	C-type lectin.				acute-phase response	extracellular region	sugar binding	p.P137A(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAGAAAAATCCCTCCACCAT	0.517000													70	183					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66696411	66696411	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr12:66696411C>A	uc001sti.2	+	0	56	c.28C>A	c.(28-30)Caa>Aaa	p.Q10K	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	10					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.Q10K(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTACCTGCGCCAACTTCAGGG	0.557000													6	116					0	0	1	0	0
CDC7	8317	broad.mit.edu	37	1	91989955	91989955	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:91989955C>A	uc001doe.3	+	11	1853	c.1688C>A	c.(1687-1689)gCt>gAt	p.A563D	CDC7_uc001dof.3_Missense_Mutation_p.A563D|CDC7_uc010osw.2_Missense_Mutation_p.A535D|CDC7_uc009wdc.3_Missense_Mutation_p.A563D|CDC7_uc009wdd.3_Missense_Mutation_p.A206D	NM_003503	NP_003494	O00311	CDC7_HUMAN	Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), transcript variant 1, mRNA.	563	Protein kinase.				DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint|cell division|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A563D(3)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GCAGAAGAAGCTTTGTTGCAT	0.328000													14	263					0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200089985	200089985	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:200089985T>C	uc001gvb.3	+	6	1486	c.1280T>C	c.(1279-1281)cTc>cCc	p.L427P	NR5A2_uc001gvc.3_Missense_Mutation_p.L381P|NR5A2_uc009wzh.3_Missense_Mutation_p.L387P|NR5A2_uc010pph.2_Missense_Mutation_p.L355P	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	427					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.N426H(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CTCAACAACCTCATGAGTCAT	0.418000													3	209					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41009977	41009977	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:41009977C>A	uc002ony.3	+	11	1689	c.1603C>A	c.(1603-1605)Ctt>Att	p.L535I	SPTBN4_uc002onx.3_Missense_Mutation_p.L535I|SPTBN4_uc002onz.3_Missense_Mutation_p.L535I	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	535					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.L535I(2)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAGCAGAACCTTGCCCTGCA	0.667000													4	121					0	0	1	0	0
PSMA8	143471	broad.mit.edu	37	18	23759096	23759096	+	Splice_Site	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr18:23759096T>C	uc002kvq.3	+	6	792	c.678_splice	c.e6+2	p.K226_splice	PSMA8_uc002kvo.3_Splice_Site_p.K182_splice|PSMA8_uc002kvp.3_Splice_Site_p.K220_splice|PSMA8_uc002kvr.3_Splice_Site_p.K194_splice	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA.	226					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CCTTTGAAGGTAAGTCATTAA	0.313000													3	172					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131023799	131023799	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:131023799T>A	uc011maw.2	-	14	1198	c.1185A>T	c.(1183-1185)aaA>aaT	p.K395N	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004buh.3_5'Flank|Metazoa_SRP_uc022bof.1_5'Flank|GOLGA2_uc004bul.1_Missense_Mutation_p.K296N|DQ594309_uc004bun.2_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	395						Golgi cisterna membrane	protein binding	p.K383N(1)|p.K395N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCTCCGCATATTTATCTCTCT	0.517000													9	217					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47589711	47589711	+	Missense_Mutation	SNP	C	C	T	rs653615		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:47589711C>T	uc002pga.4	-	5	838	c.800G>A	c.(799-801)gGc>gAc	p.G267D	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	267	Gly-rich.						nucleic acid binding|zinc ion binding	p.G267D(2)|p.R266*(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCTGCCCCTGCCTCGGCTGCC	0.667000													4	81					0	0	1	0	0
GYPC	2995	broad.mit.edu	37	2	127453705	127453705	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:127453705A>T	uc002tnq.3	+	3	530	c.374A>T	c.(373-375)gAg>gTg	p.E125V	GYPC_uc002tnr.3_Missense_Mutation_p.E106V|GYPC_uc010flv.3_Non-coding_Transcript	NM_002101	NP_002092	P04921	GLPC_HUMAN	Homo sapiens glycophorin C (Gerbich blood group) (GYPC), transcript variant 1, mRNA.	125						cortical cytoskeleton|integral to plasma membrane	protein binding	p.E125V(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		AGCAGAAAGGAGTACTTTATT	0.547000													14	76					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49051423	49051423	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr3:49051423C>A	uc003cvj.2	+	1	2684	c.2546C>A	c.(2545-2547)aCt>aAt	p.T849N	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Missense_Mutation_p.T297N|WDR6_uc010hkn.2_Missense_Mutation_p.T793N|WDR6_uc011bbz.1_Missense_Mutation_p.T768N	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	819					cell cycle arrest|negative regulation of cell proliferation	cytoplasm		p.T819N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ATCATGGTTACTCCGGACCCC	0.647000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	107					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20370791	20370791	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:20370791C>T	uc002dhc.1	-	11	1828	c.1605G>A	c.(1603-1605)tcG>tcA	p.S535S		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	535					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.S535S(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CCAGCTCAGGCGACTGCTGTT	0.502000													12	468					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043918	56043918	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:56043918C>T	uc001nio.1	+	0	804	c.804C>T	c.(802-804)ctC>ctT	p.L268L		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L268L(2)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGACAATCCTCTTCATGTATG	0.428000													165	329					0	0	1	0	0
GPI	2821	broad.mit.edu	37	19	34887247	34887247	+	Silent	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:34887247A>G	uc002nvf.3	+	13	1391	c.1221A>G	c.(1219-1221)ggA>ggG	p.G407G	GPI_uc010xrv.2_Silent_p.G379G|GPI_uc002nvg.2_Silent_p.G368G|GPI_uc010xrw.2_Silent_p.G340G|GPI_uc002nvi.2_Silent_p.G31G	NM_000175	NP_000166	P06744	G6PI_HUMAN	Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA.	368					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CCAAATCTGGAACCCGTGTGG	0.502000													4	209					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640681	3640681	+	Silent	SNP	G	G	A	rs148111699		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:3640681G>A	uc002cvp.2	-	11	3585	c.2958C>T	c.(2956-2958)ctC>ctT	p.L986L		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	986	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.L986L(2)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTGATGAGAAGAGCTGTTCGT	0.557000								Direct reversal of damage					7	180					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41865931	41865931	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:41865931G>T	uc001zof.2	+	17	2436	c.2200G>T	c.(2200-2202)Gct>Tct	p.A734S		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	734	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GACGCCATATGCTGGCATCGA	0.562000													4	189					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21799965	21799965	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:21799965C>A	uc001ber.3	+	6	1177	c.827C>A	c.(826-828)tCc>tAc	p.S276Y	NBPF3_uc001bes.3_Missense_Mutation_p.S220Y|NBPF3_uc009vqb.3_Missense_Mutation_p.S276Y|NBPF3_uc010odm.2_Missense_Mutation_p.S206Y	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	276	NBPF 1.					cytoplasm		p.S276Y(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTTGTGAGTCCAACCAGCCT	0.493000													7	436					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106125599	106125599	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:106125599A>C	uc001kyh.3	+	4	759	c.625A>C	c.(625-627)Aac>Cac	p.N209H		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	209								p.N209H(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GCAACGTCAGAACGAAGCTTC	0.512000													4	86					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101593153	101593153	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:101593153A>G	uc002bwr.3	+	24	4035	c.3716A>G	c.(3715-3717)gAg>gGg	p.E1239G	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_5'Flank	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1239					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E1239G(1)|p.E1251G(1)		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)			AGCAAGCTGGAGCACAGCGAG	0.692000													3	60					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20685387	20685387	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:20685387C>T	uc010kuh.3	+	7	924	c.687C>T	c.(685-687)atC>atT	p.I229I	ABCB5_uc003suw.4_5'Flank|ABCB5_uc003suv.4_5'Flank|ABCB5_uc011jyi.1_5'Flank	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	415					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.L228I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGATGGTCATCTCATTGACCA	0.403000													4	231					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13224386	13224386	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:13224386T>G	uc010mia.1	-	2	437	c.380A>C	c.(379-381)aAa>aCa	p.K127T	MPDZ_uc010mhz.3_Missense_Mutation_p.K127T|MPDZ_uc011lmn.2_Missense_Mutation_p.K127T|MPDZ_uc010mhy.3_Missense_Mutation_p.K127T|MPDZ_uc003zlb.4_Missense_Mutation_p.K127T	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	127					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.K127T(3)|p.I126M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGCCATATTTTTGATAAGCTG	0.338000													53	207					0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479261	14479261	+	RNA	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr18:14479261C>T	uc010xai.2	-	2		c.303G>A								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		GCAGCAGGAGCGCCATGGTGG	0.597000													4	17					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632973	32632973	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:32632973C>T	uc003zrg.1	-	0	2695	c.2605G>A	c.(2605-2607)Gct>Act	p.A869T	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	869					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.A869T(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGAAGTCAGCGCAGAGCTTT	0.463000													11	307					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364321	22364321	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22364321C>T	uc002nqs.1	-	2	516	c.198G>A	c.(196-198)atG>atA	p.M66I		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M66I(2)|p.M66fs*1(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTCAATATCATTTTTTGGA	0.303000													5	148					0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61869854	61869854	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:61869854A>C	uc010oos.2	+	8	1371	c.1289A>C	c.(1288-1290)cAc>cCc	p.H430P	NFIA_uc001czy.3_Missense_Mutation_p.H377P|NFIA_uc001czw.3_Missense_Mutation_p.H385P|NFIA_uc001czv.3_Missense_Mutation_p.H385P|NFIA_uc001czx.3_Missense_Mutation_p.H33P|NFIA_uc009wae.3_5'Flank	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	385					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.H385P(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TACTTCTCACACCCAGCCATC	0.527000													16	218					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218750505	218750505	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:218750505T>C	uc002vgt.2	-	12	1101	c.703A>G	c.(703-705)Acc>Gcc	p.T235A	TNS1_uc002vgr.2_Missense_Mutation_p.T235A|TNS1_uc002vgs.2_Missense_Mutation_p.T235A|TNS1_uc010zjv.1_Missense_Mutation_p.T235A|TNS1_uc010fvj.1_Missense_Mutation_p.T303A|TNS1_uc010fvk.1_Missense_Mutation_p.T360A|TNS1_uc002vgu.3_Missense_Mutation_p.T266A|TNS1_uc010fvi.1_5'UTR	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	235	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding	p.T235A(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGCTCGATGGTGATGCAGACG	0.532000													6	145					0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177034058	177034058	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:177034058C>T	uc002ukt.1	+	1	392	c.216C>T	c.(214-216)agC>agT	p.S72S		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	72					Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S72S(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CCATCCAGAGCTCTGCCCCTC	0.652000													36	101					0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	210993851	210993851	+	Silent	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:210993851A>C	uc002vds.3	-	2	1342	c.1134T>G	c.(1132-1134)gtT>gtG	p.V378V	KANSL1L_uc002vdt.3_Silent_p.V378V|KANSL1L_uc002vdw.3_Silent_p.V378V|KANSL1L_uc002vdv.3_Silent_p.V378V|KANSL1L_uc002vdx.1_Silent_p.V378V	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	Homo sapiens chromosome 2 open reading frame 67 (C2orf67), mRNA.	378								p.V378V(2)									ATCGGCTGCCAACTCGTGCTC	0.428000													11	113					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79938099	79938099	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:79938099A>G	uc004akr.3	+	44	6207	c.5947A>G	c.(5947-5949)Aca>Gca	p.T1983A	VPS13A_uc004akp.4_Missense_Mutation_p.T1983A|VPS13A_uc004akq.4_Missense_Mutation_p.T1983A|VPS13A_uc004aks.3_Missense_Mutation_p.T1944A|VPS13A_uc004akt.3_Missense_Mutation_p.T323A	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1983					Golgi to endosome transport|protein transport	intracellular	protein binding	p.T1983A(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCAAATTGATACAGTAGAAGG	0.403000													3	186					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209963071	209963071	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:209963071A>C	uc001hhq.2	-	7	1424	c.1120T>G	c.(1120-1122)Tgc>Ggc	p.C374G	IRF6_uc010psm.2_Missense_Mutation_p.C279G	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	374			C -> W (in VWS).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.C374G(2)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCCCCAAAGCATAAGTAGATC	0.443000										HNSCC(57;0.16)			3	156					0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219498481	219498481	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:219498481G>T	uc021vwx.1	+	10	1942	c.1603G>T	c.(1603-1605)Gct>Tct	p.A535S	PLCD4_uc010zkk.1_Missense_Mutation_p.A85S	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	535	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.A535S(3)|p.E534D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CATCAAGGAGGCTGGTCAGGA	0.507000													5	60					0	0	1	0	0
GZMH	2999	broad.mit.edu	37	14	25076555	25076555	+	Missense_Mutation	SNP	T	T	G	rs144759599		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:25076555T>G	uc001wpr.1	-	3	442	c.397A>C	c.(397-399)Aag>Cag	p.K133Q	GZMH_uc010aly.1_Intron|GZMH_uc010alz.1_Intron	NM_033423	NP_219491	P20718	GRAH_HUMAN	Homo sapiens granzyme H (cathepsin G-like 2, protein h-CCPX) (GZMH), mRNA.	133	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	p.K133Q(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		ACCTGGGCCTTGCTGCTAGGT	0.572000													7	116					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49620929	49620929	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:49620929C>T	uc002xwa.4	-	2	1484	c.1189G>A	c.(1189-1191)Gtc>Atc	p.V397I		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	397						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V397I(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTCTCGATGACGTAGAGCAGG	0.662000													4	72					0	0	1	0	0
KLHL2	11275	broad.mit.edu	37	4	166218818	166218818	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:166218818A>C	uc003irb.3	+	6	971	c.712A>C	c.(712-714)Atg>Ctg	p.M238L	KLHL2_uc011cjm.2_Missense_Mutation_p.M242L|KLHL2_uc003irc.3_Missense_Mutation_p.M150L|KLHL2_uc010ira.3_5'UTR	NM_007246	NP_001154994	O95198	KLHL2_HUMAN	Homo sapiens kelch-like 2, Mayven (Drosophila) (KLHL2), transcript variant 1, mRNA.	238					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	p.M238L(3)		endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GCAAGAGTTTATGGCCCGACT	0.393000													4	174					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101748355	101748355	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:101748355C>T	uc004azb.1	+	2	815	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	203	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.F203F(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGGAATCTTCATGGGCAATG	0.557000													4	138					0	0	1	0	0
KCNN2	3781	broad.mit.edu	37	5	113740445	113740445	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:113740445C>G	uc003kqo.3	+	2	1350	c.893C>G	c.(892-894)aCa>aGa	p.T298R		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	298						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.T298R(3)		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)		AACTTCAATACACGTTTTGTT	0.383000													7	376					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039026	31039026	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:31039026A>G	uc002nsu.1	+	3	2638	c.2500A>G	c.(2500-2502)Agg>Ggg	p.R834G	ZNF536_uc010edd.1_Missense_Mutation_p.R834G	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	834					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R834G(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCTGTTCATCAGGCCAGACAT	0.587000													5	225					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54823141	54823141	+	Silent	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:54823141C>A	uc002qfe.3	-	3	522	c.402G>T	c.(400-402)gtG>gtT	p.V134V	LILRA5_uc002qff.3_Silent_p.V122V|LILRA5_uc010yev.2_Silent_p.V134V|LILRA5_uc010yew.2_Silent_p.V122V|LILRA5_uc002qfg.1_Silent_p.V134V|LILRA5_uc002qfh.1_Silent_p.V122V	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	134	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACCTGTCACCACCAGCTCCA	0.632000													4	176					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56099193	56099193	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:56099193C>T	uc010giw.1	-	1	180	c.69G>A	c.(67-69)ccG>ccA	p.P23P	CTCFL_uc010gix.1_Silent_p.P23P|CTCFL_uc002xym.2_Silent_p.P23P|CTCFL_uc010gjb.1_Silent_p.P23P|CTCFL_uc010gja.1_Silent_p.P23P|CTCFL_uc010gjc.1_Silent_p.P23P|CTCFL_uc010gjd.1_Silent_p.P23P|CTCFL_uc010gje.3_Silent_p.P23P|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_Intron|CTCFL_uc010gjh.2_Silent_p.P23P|CTCFL_uc010gji.2_Intron|CTCFL_uc010gjj.2_Silent_p.P23P|CTCFL_uc021wfe.1_Silent_p.P23P|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Silent_p.P23P|CTCFL_uc010gjl.1_Silent_p.P23P	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	23					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.P23P(2)|p.P23S(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGCCTTTTTCCGGCATCAACT	0.507000													241	498					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79051886	79051886	+	Silent	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:79051886G>A	uc002bej.4	-	23	5149	c.4938C>T	c.(4936-4938)tgC>tgT	p.C1646C		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1646	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C1646C(7)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCAGCGTCTCGCAGAACCCGA	0.701000													5	7					0	0	1	0	0
MSMP	692094	broad.mit.edu	37	9	35753744	35753744	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:35753744T>G	uc003zyb.2	-	1	300	c.152A>C	c.(151-153)aAa>aCa	p.K51T	DQ589555_uc022bgn.1_5'Flank	NM_001044264	NP_001037729	Q1L6U9	MSMP_HUMAN	Homo sapiens microseminoprotein, prostate associated (MSMP), mRNA.	51						extracellular region		p.K51T(2)		endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						GGTAAAATATTTCCCCTCATA	0.537000													9	60					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17958926	17958926	+	Silent	SNP	C	C	T	rs116425261	by1000genomes	TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:17958926C>T	uc001ban.3	+	15	1854	c.1695C>T	c.(1693-1695)ctC>ctT	p.L565L	ARHGEF10L_uc009vpe.1_Silent_p.L526L|ARHGEF10L_uc001bao.3_Silent_p.L526L|ARHGEF10L_uc001bap.3_Silent_p.L526L|ARHGEF10L_uc010ocr.1_Silent_p.L323L|ARHGEF10L_uc001baq.3_Silent_p.L331L|ARHGEF10L_uc010ocs.2_Silent_p.L343L|ARHGEF10L_uc001bar.3_Silent_p.L273L|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	565					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.L565L(4)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TCTTCCTGCTCAACGACATGC	0.602000													7	288					0	0	1	0	0
CCDC25	55246	broad.mit.edu	37	8	27605731	27605731	+	Silent	SNP	G	G	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr8:27605731G>C	uc003xgc.3	-	6	527	c.414C>G	c.(412-414)gtC>gtG	p.V138V	CCDC25_uc011lan.2_Non-coding_Transcript|CCDC25_uc003xgd.3_Silent_p.V70V|CCDC25_uc011lao.2_Non-coding_Transcript|CCDC25_uc003xge.3_Non-coding_Transcript|CCDC25_uc003xgf.1_Non-coding_Transcript	NM_018246	NP_060716	Q86WR0	CCD25_HUMAN	Homo sapiens coiled-coil domain containing 25 (CCDC25), mRNA.	138								p.V138V(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		GGAACCGCTCGACTTTGGTCT	0.393000													39	175					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072359	75072359	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:75072359A>T	uc001dgg.3	-	9	1634	c.1415T>A	c.(1414-1416)gTg>gAg	p.V472E	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.V266E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	472	Glu-rich.							p.V472E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATTTCCTCCACAGCAGTTAC	0.363000													9	495					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40328219	40328219	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:40328219T>G	uc002hzb.2	-	4	1015	c.682A>C	c.(682-684)Atc>Ctc	p.I228L		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	228					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCGTCCCAGATGGCCTTGGAG	0.592000													3	230					0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3406160	3406160	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:3406160G>A	uc002cuw.1	+	0	272	c.220G>A	c.(220-222)Gct>Act	p.A74T		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A74T(2)		kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCTTGCTTTCGCTACTAGTTC	0.522000													40	297					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138643657	138643657	+	Silent	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:138643657A>C	uc003ldw.3	+	2	956	c.553A>C	c.(553-555)Aga>Cga	p.R185R	MATR3_uc003lds.3_Silent_p.R185R|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Silent_p.R185R|MATR3_uc010jfb.3_Silent_p.R185R|MATR3_uc003ldx.3_Silent_p.R185R|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Silent_p.R185R|MATR3_uc011czb.2_Intron	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	185						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding	p.R185R(2)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGGCACTTTAGAAGAGATAG	0.443000													5	143					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160042863	160042863	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:160042863T>G	uc003lym.1	-	16	3482	c.2635A>C	c.(2635-2637)Aat>Cat	p.N879H	ATP10B_uc010jit.1_Missense_Mutation_p.N196H|ATP10B_uc003lyn.3_Missense_Mutation_p.N437H	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	879					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.N879H(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGAGTTGATTCTCCAGATGC	0.493000													114	173					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154754078	154754078	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:154754078G>A	uc022aqg.1	-	9	2123	c.2080C>T	c.(2080-2082)Cac>Tac	p.H694Y	PAXIP1_uc022aqf.1_Missense_Mutation_p.H694Y|PAXIP1_uc022aqh.1_Missense_Mutation_p.H660Y|PAXIP1_uc022aqi.1_Missense_Mutation_p.H658Y	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	Homo sapiens PAX interacting (with transcription-activation domain) protein 1 (PAXIP1), mRNA.	694	BRCT 3.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		p.H660Y(1)|p.H694Y(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ACTGGGAAGTGAAGGGCTCGG	0.468000													5	163					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79051880	79051880	+	Silent	SNP	C	C	T	rs1045121	by1000genomes	TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:79051880C>T	uc002bej.4	-	23	5155	c.4944G>A	c.(4942-4944)acG>acA	p.T1648T		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1648	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T1648T(8)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTAGGCGCAGCGTCTCGCAGA	0.697000													5	7					0	0	1	0	0
SNX30	401548	broad.mit.edu	37	9	115631068	115631068	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:115631068T>C	uc004bgj.4	+	8	1407	c.1259T>C	c.(1258-1260)cTc>cCc	p.L420P	SNX30_uc004bgi.4_Missense_Mutation_p.L102P	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	Homo sapiens sorting nexin family member 30 (SNX30), mRNA.	420					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TTCCAGTGCCTCATGGCGTGG	0.493000													3	195					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92442729	92442729	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:92442729C>G	uc001dol.4	+	6	1166	c.748C>G	c.(748-750)Cca>Gca	p.P250A	BRDT_uc010osz.2_Missense_Mutation_p.P254A|BRDT_uc001dok.4_Missense_Mutation_p.P250A|BRDT_uc009wdf.3_Missense_Mutation_p.P177A|BRDT_uc010otb.2_Missense_Mutation_p.P204A|BRDT_uc010ota.2_Missense_Mutation_p.P204A|BRDT_uc001dom.4_Missense_Mutation_p.P250A	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.P250A(3)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGAAAATATGCCAAAGAATGT	0.348000													4	140					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900688	51900688	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:51900688G>T	uc002iua.2	+	0	450	c.294G>T	c.(292-294)ttG>ttT	p.L98F	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	98					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.L98F(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATCCCCCTTGGCTCTGGCGC	0.587000													6	260					0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57268617	57268617	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:57268617C>G	uc001xcq.3	-	4	1004	c.730G>C	c.(730-732)Gct>Cct	p.A244P	OTX2_uc001xcp.3_Missense_Mutation_p.A236P|OTX2_uc021rtm.1_Missense_Mutation_p.A66P|OTX2_uc010aou.3_Missense_Mutation_p.A236P	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	236					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding	p.A244P(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GAAAGAGAAGCTGGGGACTGA	0.502000													66	128					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63851205	63851205	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:63851205C>G	uc001jlt.2	+	9	2439	c.1983C>G	c.(1981-1983)gaC>gaG	p.D661E	ARID5B_uc001jlu.2_Missense_Mutation_p.D418E	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	661					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	p.D661E(2)		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)					AAGACAAAGACCTGACTGGGC	0.537000													3	59					0	0	1	0	0
ABCD3	5825	broad.mit.edu	37	1	94980700	94980700	+	Splice_Site	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:94980700A>G	uc010oto.2	+	23	2020	c.1918_splice	c.e23-2	p.V640_splice	ABCD3_uc001dqn.4_Splice_Site_p.V616_splice|ABCD3_uc010otp.2_Splice_Site_p.V543_splice|ABCD3_uc009wdr.3_Splice_Site_p.V506_splice|ABCD3_uc001dqo.4_Splice_Site_p.V304_splice	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	616	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TCTTTGTATTAGGTTGGCATC	0.328000													3	245					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576525	158576525	+	Silent	SNP	C	C	T	rs146841755		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:158576525C>T	uc010pio.2	+	0	297	c.297C>T	c.(295-297)gcC>gcT	p.A99A		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A99A(2)|p.A99S(2)|p.A98A(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GCTGTGCTGCCCAGATGTTCT	0.542000													107	396					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50716066	50716066	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr22:50716066T>C	uc003bkv.4	-	32	5243	c.5150A>G	c.(5149-5151)cAg>cGg	p.Q1717R	PLXNB2_uc003bkt.1_Missense_Mutation_p.Q509R|PLXNB2_uc003bku.1_Missense_Mutation_p.Q702R	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1717					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.Q1760R(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATGAAGGTCTGCGCGATGAC	0.627000													3	119					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65123663	65123663	+	Silent	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:65123663A>G	uc021qlj.1	+	0	384	c.384A>G	c.(382-384)aaA>aaG	p.K128K	TIGD3_uc001odo.4_Silent_p.K128K	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	128	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.K128K(2)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCCGCTGGAAACGCCGAAACA	0.657000													7	62					0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225607439	225607439	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:225607439T>C	uc001hoy.3	-	3	602	c.428A>G	c.(427-429)gAc>gGc	p.D143G	LBR_uc001hoz.3_Missense_Mutation_p.D143G	NM_002296	NP_919424	Q14739	LBR_HUMAN	Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.	143	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	DNA binding|chromo shadow domain binding|delta14-sterol reductase activity|lamin binding|receptor activity	p.D143G(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ATGAGGTGCGTCATTTCTCTC	0.348000													4	297					0	0	1	0	0
DPEP1	1800	broad.mit.edu	37	16	89703762	89703762	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:89703762G>A	uc010cin.3	+	6	945	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	DPEP1_uc002fnr.4_Missense_Mutation_p.V248M|DPEP1_uc002fns.4_Missense_Mutation_p.V248M	NM_001128141	NP_004404	P16444	DPEP1_HUMAN	Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	248					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	p.V248M(2)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CCGGCGCAACGTGCCTGACGA	0.682000													3	42					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117663708	117663708	+	Splice_Site	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:117663708C>A	uc003pxp.1	-	28	4724	c.4525_splice	c.e28-1	p.E1509_splice	ROS1_uc011ebi.1_Splice_Site|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1509	Fibronectin type-III 6.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.?(3)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCTGAAATTCCTGTAATTGAT	0.254000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								14	46					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837851	29837851	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr22:29837851C>T	uc003afn.3	+	1	903	c.694C>T	c.(694-696)Ccg>Tcg	p.P232S	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	232	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CAGCACGGTGCCGCTGACTTT	0.522000													4	163					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32274132	32274132	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:32274132A>C	uc003jhq.3	-	2	409	c.239T>G	c.(238-240)tTc>tGc	p.F80C	MTMR12_uc010iuk.3_Missense_Mutation_p.F80C|MTMR12_uc010iul.3_Missense_Mutation_p.F80C	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	80						cytoplasm	phosphatase activity	p.F80C(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGCAATCTTGAAGTCTGTGCA	0.483000													12	310					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3641788	3641788	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:3641788C>T	uc002lyj.2	-	14	1791	c.1702G>A	c.(1702-1704)Gcg>Acg	p.A568T	PIP5K1C_uc010xhq.2_Missense_Mutation_p.A568T|PIP5K1C_uc010xhr.2_Missense_Mutation_p.A568T	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	568					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	p.A568T(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCCTCTTCCGCGGGTGGCTCC	0.637000													28	44					0	0	1	0	0
UTP3	57050	broad.mit.edu	37	4	71555682	71555682	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:71555682C>T	uc003hfo.3	+	0	1487	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Homo sapiens UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) (UTP3), mRNA.	430					brain development|chromatin modification|gene silencing	nucleolus		p.R430C(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GAAGATTGATCGCAATCCCAG	0.408000													5	215					0	0	1	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252136	26252136	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:26252136G>T	uc003nhh.3	+	0	258	c.258G>T	c.(256-258)aaG>aaT	p.K86N	HIST1H3F_uc003nhg.1_5'Flank	NM_003524	NP_003515	Q93079	H2B1H_HUMAN	Homo sapiens histone cluster 1, H2bh (HIST1H2BH), mRNA.	86					nucleosome assembly	nucleosome|nucleus	DNA binding	p.K86N(2)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						ATTACAACAAGCGTTCGACCA	0.607000													15	167					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407223	148407223	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:148407223G>A	uc003lpu.3	-	10	2224	c.2072C>T	c.(2071-2073)gCc>gTc	p.A691V	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.A335V|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.A238V|SH3TC2_uc010jgx.3_Missense_Mutation_p.A684V|SH3TC2_uc003lpv.1_Missense_Mutation_p.A238V|SH3TC2_uc011dbz.1_Missense_Mutation_p.A576V	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	691							binding	p.A691V(2)|p.A576V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGACAGAGGCCACTGCAAG	0.527000													49	176					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17780382	17780382	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:17780382G>A	uc021uqk.1	-	4	416	c.374C>T	c.(373-375)aCg>aTg	p.T125M		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	125					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.T213M(2)|p.T125M(2)|p.A125T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCAAAGCGCGTGTCCAGGAG	0.612000													3	64					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158401075	158401075	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:158401075C>A	uc002tzk.4	-	4	1068	c.825G>T	c.(823-825)caG>caT	p.Q275H	ACVR1C_uc002tzl.4_Missense_Mutation_p.Q195H|ACVR1C_uc010fof.3_Missense_Mutation_p.Q118H|ACVR1C_uc010foe.3_Missense_Mutation_p.Q225H	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	275	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATAAGGAGCCCTGTTCATGAT	0.383000													4	171					0	0	1	0	0
TRIM25	7706	broad.mit.edu	37	17	54969322	54969322	+	Silent	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:54969322G>A	uc002iut.3	-	8	1692	c.1632C>T	c.(1630-1632)cgC>cgT	p.R544R	TRIM25_uc010dcj.3_Silent_p.R336R|TRIM25_uc021uaj.1_5'Flank	NM_005082	NP_005073	Q14258	TRI25_HUMAN	Homo sapiens tripartite motif containing 25 (TRIM25), mRNA.	544	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	p.R544R(3)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					AGGCGCTGTTGCGGCCGAGCC	0.602000													37	94					0	0	1	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42975223	42975223	+	Silent	SNP	C	C	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:42975223C>T	uc003oth.3	+	5	791	c.705C>T	c.(703-705)atC>atT	p.I235I	MEA1_uc010jyc.1_Intron|PPP2R5D_uc010jyd.3_Silent_p.I129I|PPP2R5D_uc011dva.2_Silent_p.I84I|PPP2R5D_uc003oti.3_Silent_p.I84I|PPP2R5D_uc021yzq.1_Silent_p.I203I|PPP2R5D_uc003otj.3_Silent_p.I84I	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', delta (PPP2R5D), transcript variant 1, mRNA.	235					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.I235I(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGAAGTACATCGACCAGAAGT	0.512000													16	224					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22585674	22585674	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22585674G>T	uc002nqt.2	-	2	292	c.170C>A	c.(169-171)tCt>tAt	p.S57Y		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S57Y(3)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTCTGGCTTAGAGGCAGCAAT	0.393000													34	130					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786251	121786251	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:121786251G>T	uc003ksw.1	+	9	1915	c.1709G>T	c.(1708-1710)aGa>aTa	p.R570I	SNCAIP_uc011cwl.1_Missense_Mutation_p.R128I|SNCAIP_uc003ksy.1_Missense_Mutation_p.R204I|SNCAIP_uc003ksx.1_Missense_Mutation_p.R617I|SNCAIP_uc003ksz.1_Missense_Mutation_p.R204I|SNCAIP_uc010jcu.2_Missense_Mutation_p.R166I|SNCAIP_uc011cwm.1_Missense_Mutation_p.R204I|SNCAIP_uc003kta.1_Missense_Mutation_p.R202I|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.R264I|SNCAIP_uc010jcx.1_Missense_Mutation_p.R510I|BC029465_uc003ktb.1_Non-coding_Transcript|SNCAIP_uc003ktc.1_Missense_Mutation_p.R86I	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	570					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.R570I(2)|p.R617I(1)|p.S569F(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCTGCCTCCAGAAAGTCCCAG	0.458000													11	348					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39959750	39959750	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:39959750A>G	uc002olo.4	+	14	1354	c.1175A>G	c.(1174-1176)gAg>gGg	p.E392G	SUPT5H_uc002olp.4_Missense_Mutation_p.E392G|SUPT5H_uc002olq.4_Missense_Mutation_p.E388G|SUPT5H_uc002oln.4_Missense_Mutation_p.E392G|SUPT5H_uc002olr.4_Missense_Mutation_p.E392G|SUPT5H_uc002ols.1_Missense_Mutation_p.E15G|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	392	Interaction with RNA polymerase II.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	p.E392G(2)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACACTCTCTGAGCTGGAAAAG	0.567000													17	115					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183513545	183513545	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:183513545G>C	uc001gqg.3	+	14	2150	c.1900G>C	c.(1900-1902)Gta>Cta	p.V634L	SMG7_uc010pob.2_Missense_Mutation_p.V617L|SMG7_uc021pga.1_Missense_Mutation_p.V546L|SMG7_uc001gqf.3_Missense_Mutation_p.V588L|SMG7_uc001gqh.3_Missense_Mutation_p.V588L|SMG7_uc010poc.2_Missense_Mutation_p.V592L	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	634					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.V634L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AAAAACACCTGTAACTCAAAC	0.423000													4	182					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21755850	21755850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:21755850G>A	uc010iuc.2	-	10	2193	c.1735C>T	c.(1735-1737)Cag>Tag	p.Q579*	CDH12_uc011cno.1_Nonsense_Mutation_p.Q539*|CDH12_uc003jgk.2_Nonsense_Mutation_p.Q579*|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	579	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q579*(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTGCTGCTCTGGACAGGGTAG	0.468000										HNSCC(59;0.17)			4	207					0	0	1	0	0
FSCN2	25794	broad.mit.edu	37	17	79496338	79496338	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:79496338G>T	uc010wuo.2	+	0	922	c.781G>T	c.(781-783)Gtg>Ttg	p.V261L	FSCN2_uc010wup.2_Missense_Mutation_p.V261L	NM_001077182	NP_001070650	O14926	FSCN2_HUMAN	Homo sapiens fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2, mRNA.	261					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	p.V261L(3)		endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCACCCACAGGTGGTGCTGGT	0.662000													4	7					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63978262	63978262	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:63978262G>T	uc001nyl.2	+	2	489	c.340G>T	c.(340-342)Gcc>Tcc	p.A114S	FERMT3_uc001nym.2_Missense_Mutation_p.A114S	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	114					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	p.A114S(3)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCGCCTCCGTGCCAGCTTCTC	0.667000													6	192					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44489938	44489938	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:44489938delT	uc001cln.3	-	1	254	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_uc010okm.1_Frame_Shift_Del_p.K4fs|SLC6A9_uc010oko.2_5'UTR|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_001024845	NP_001020016	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 3, mRNA.	335						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627													7	759	---	---	---	---					
PDZRN3	23024	broad.mit.edu	37	3	73437147	73437148	+	Frame_Shift_Ins	INS	-	A	A			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr3:73437147_73437148insA	uc003dpl.1	-	7	1585_1586	c.1489_1490insT	c.(1489-1491)tcafs	p.S497fs	PDZRN3_uc011bgh.1_Frame_Shift_Ins_p.S154fs|PDZRN3_uc010hoe.1_Frame_Shift_Ins_p.S195fs|PDZRN3_uc011bgf.1_Frame_Shift_Ins_p.S214fs|PDZRN3_uc011bgg.1_Frame_Shift_Ins_p.S217fs	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	497	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AATCAGCAATGAAAAGTTTTTA	0.421													265	502	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150886733	150886733	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:150886733delA	uc003lue.4	-	21	12512	c.12499delT	c.(12499-12501)tggfs	p.W4167fs	FAT2_uc003lud.4_Frame_Shift_Del_p.W774fs	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	4167					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGCTGGACCAGGTTCTCTTA	0.557													57	163	---	---	---	---					
RNF31	55072	broad.mit.edu	37	14	24621084	24621085	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:24621084_24621085delGA	uc001wmn.1	+	10	2262_2263	c.2013_2014delGA	c.(2011-2016)aggaacfs	p.R671fs	RNF31_uc001wml.1_Frame_Shift_Del_p.R520fs|RNF31_uc001wmm.1_Non-coding_Transcript|RNF31_uc010alg.1_Frame_Shift_Del_p.R430fs|RNF31_uc001wmo.1_Frame_Shift_Del_p.R138fs|RNF31_uc001wmp.3_Non-coding_Transcript	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	671					CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AGACACCCAGGAACTATGAGTT	0.634													29	213	---	---	---	---					
FOXA1	3169	broad.mit.edu	37	14	38061220	38061225	+	In_Frame_Del	DEL	CGTTCT	-	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:38061220_38061225delCGTTCT	uc001wuf.3	-	1	1076_1081	c.764_769delAGAACG	c.(763-771)gagaacggc>ggc	p.EN255del	FOXA1_uc010tpz.2_In_Frame_Del_p.EN222del	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	255					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AAGTAGCAGCCGTTCTCGAACATGTT	0.694													12	24	---	---	---	---					
FLT3LG	2323	broad.mit.edu	37	19	49982165	49982166	+	Splice_Site	INS	-	C	C			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:49982165_49982166insC	uc002pnu.3	+	6	453	c.343_splice	c.e6-1	p.P115_splice	FLT3LG_uc002pnw.3_Splice_Site_p.P33_splice|FLT3LG_uc010yau.2_Splice_Site_p.P115_splice|FLT3LG_uc002pnv.3_Splice_Site_p.P33_splice|FLT3LG_uc002pnx.3_Splice_Site_p.P115_splice|FLT3LG_uc010yav.2_Splice_Site_p.P33_splice	NM_001459	NP_001450	P49771	FLT3L_HUMAN	Homo sapiens fms-related tyrosine kinase 3 ligand (FLT3LG), transcript variant 3, mRNA.	115					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	p.S118fs*24(1)		large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCTGCTCCCAGCCCCCCCCCAG	0.688													2	4	---	---	---	---					
C20orf111	51526	broad.mit.edu	37	20	42831694	42831697	+	Frame_Shift_Del	DEL	ACAG	-	-			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:42831694_42831697delACAG	uc002xlk.3	-	2	347_350	c.95_98delCTGT	c.(94-99)tctgttfs	p.S32fs		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	Homo sapiens chromosome 20 open reading frame 111 (C20orf111), mRNA.	32										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	14		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GCCTTCTCCAACAGACAGAGATGC	0.417													35	72	---	---	---	---					
