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
TEX15	56154	broad.mit.edu	37	8	30694875	30694875	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:30694875C>T	uc003xil.3	-	2	7776	c.7776G>A	c.(7774-7776)gtG>gtA	p.V2592V		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2592										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAAAAGTATGCACAGTATTGG	0.378000													61	100					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509419	106509419	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:106509419C>A	uc003vdv.4	+	1	1498	c.1413C>A	c.(1411-1413)caC>caA	p.H471Q	PIK3CG_uc003vdu.3_Missense_Mutation_p.H471Q|PIK3CG_uc003vdw.3_Missense_Mutation_p.H471Q	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	471					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGATAGACCACCGTTTCCTCC	0.532000													46	75					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111484884	111484884	+	Silent	SNP	A	A	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:111484884A>G	uc003vfy.3	-	24	2940	c.2671T>C	c.(2671-2673)Ttg>Ctg	p.L891L	DOCK4_uc003vfw.3_Silent_p.L332L|DOCK4_uc003vfx.3_Silent_p.L891L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	891					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTGATCTCCAATATGGTCCTC	0.463000													9	174					0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58196616	58196616	+	Silent	SNP	G	G	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr3:58196616G>C	uc003djo.1	-	0	115	c.18C>G	c.(16-18)gcC>gcG	p.A6A	DNASE1L3_uc011bfd.1_Silent_p.A6A|DNASE1L3_uc003djp.1_Silent_p.A6A|DNASE1L3_uc003djq.1_Silent_p.A6A	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	6					DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GCAGCAGTGGGGCCAGCTCCC	0.587000													36	57					0	0	1	0	0
ZFAND1	79752	broad.mit.edu	37	8	82614952	82614952	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:82614952T>A	uc003ycj.2	-	7	808	c.785A>T	c.(784-786)aAt>aTt	p.N262I	ZFAND1_uc010lzx.2_Missense_Mutation_p.N255I|ZFAND1_uc022awt.1_Non-coding_Transcript|ZFAND1_uc022awu.1_Missense_Mutation_p.N155I|ZFAND1_uc003yck.2_Missense_Mutation_p.N155I	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN	Homo sapiens zinc finger, AN1-type domain 1 (ZFAND1), transcript variant 1, mRNA.	262							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGATTCAACATTTTTACAGAA	0.294000													48	73					0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48403341	48403341	+	Silent	SNP	C	C	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chrX:48403341C>A	uc011mmb.1	+	2	416	c.330C>A	c.(328-330)ctC>ctA	p.L110L	TBC1D25_uc004dka.1_Silent_p.L106L|TBC1D25_uc011mly.1_Silent_p.L48L|TBC1D25_uc004dkb.1_Intron|TBC1D25_uc011mlz.1_Intron|TBC1D25_uc011mma.1_5'UTR|TBC1D25_uc004dkc.1_Intron|TBC1D25_uc011mmd.1_5'UTR|TBC1D25_uc011mmc.1_Intron	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	106						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACTGGGACCTCAGCACAGCCT	0.562000													3	34					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98927427	98927427	+	Silent	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:98927427T>C	uc001tfh.2	+	3	1687	c.1392T>C	c.(1390-1392)gtT>gtC	p.V464V	TMPO_uc001tfi.2_Intron|TMPO_uc001tfl.3_Intron|TMPO_uc001tfj.3_Intron|TMPO_uc001tfk.3_Intron	NM_003276	NP_003267	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 1, mRNA.	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCAAAACTGTTGTCTCTCATT	0.423000													37	57					0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124618648	124618648	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:124618648C>T	uc001qas.3	-	4	674	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	VSIG2_uc001qat.3_Missense_Mutation_p.G200S	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	200	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ATGAGCTGGCCAGACACCTCA	0.537000													19	28					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180334307	180334307	+	Silent	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr3:180334307T>C	uc010hxe.3	-	17	2698	c.2583A>G	c.(2581-2583)caA>caG	p.Q861Q	CCDC39_uc003fkn.3_Non-coding_Transcript|TTC14_uc003fkm.2_Intron	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	861					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTATTACCTGTTGAAAGTATG	0.264000													24	30					0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100681607	100681607	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:100681607A>G	uc001dta.3	-	5	737	c.704T>C	c.(703-705)aTg>aCg	p.M235T	DBT_uc010oug.2_Missense_Mutation_p.M54T|DBT_uc021oqo.1_Missense_Mutation_p.M235T	NM_001918	NP_001909	P11182	ODB2_HUMAN	Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.	235					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	p.M235I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AGGAACAGTCATGTCTTTTGG	0.373000													114	175					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153906083	153906083	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:153906083C>T	uc001fdd.1	-	19	3607	c.3206G>A	c.(3205-3207)cGc>cAc	p.R1069H		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	1069										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGGGAGTGGCGGGAAGGAGT	0.711000													6	11					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23293036	23293036	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:23293036G>T	uc003swc.3	+	1	342	c.181G>T	c.(181-183)Gtg>Ttg	p.V61L	GPNMB_uc003swa.2_Missense_Mutation_p.V61L|GPNMB_uc003swb.3_Missense_Mutation_p.V61L|GPNMB_uc011jyy.2_Missense_Mutation_p.V61L|GPNMB_uc011jyz.2_Intron	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.	61					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACTCTACCCAGTGTGGAAGCG	0.433000													4	80					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51855027	51855027	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:51855027G>A	uc001rys.1	+	8	1231	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	SLC4A8_uc010sni.2_Silent_p.Q298Q|SLC4A8_uc001rym.3_Silent_p.Q298Q|SLC4A8_uc001ryn.3_Silent_p.Q298Q|SLC4A8_uc001ryo.2_Silent_p.Q298Q|SLC4A8_uc001ryp.1_Silent_p.Q298Q|SLC4A8_uc010snj.2_Silent_p.Q378Q|SLC4A8_uc001ryq.4_Silent_p.Q351Q|SLC4A8_uc001ryr.3_Silent_p.Q351Q|SLC4A8_uc010snk.2_Silent_p.Q298Q	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	351					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)		GGAAAGGTCAGCAGTACCATG	0.378000													3	54					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421407	62421407	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr20:62421407G>A	uc002ygv.2	-	1	905	c.704C>T	c.(703-705)cCg>cTg	p.P235L	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GTACTGAGACGGTGAAACCTG	0.602000													3	43					0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123513260	123513260	+	Silent	SNP	G	G	A	rs142613556		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:123513260G>A	uc001pza.1	-	3	746	c.339C>T	c.(337-339)aaC>aaT	p.N113N	SCN3B_uc001pzb.1_Silent_p.N113N	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	113	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GGCCAGAGTCGTTCAGAGTGA	0.602000													5	97					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940654	144940654	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr8:144940654G>A	uc003zaa.1	-	0	6781	c.6768C>T	c.(6766-6768)ccC>ccT	p.P2256P		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2256						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCGTGCCGGGCCGCAGCA	0.726000													3	39					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8526058	8526058	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:8526058C>T	uc001ape.3	-	11	1940	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D	RERE_uc001apf.3_Missense_Mutation_p.G377D|RERE_uc010nzx.1_Missense_Mutation_p.G109D|RERE_uc001aph.1_Missense_Mutation_p.G377D	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	377	ELM2.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGGGCTTTGCCAGCATCGTA	0.507000													3	45					0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20220952	20220952	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr13:20220952A>T	uc001umg.3	+	2	840	c.739A>T	c.(739-741)Aaa>Taa	p.K247*	MPHOSPH8_uc001umh.3_Nonsense_Mutation_p.K247*|MPHOSPH8_uc001umi.3_5'UTR	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	247	Lys-rich.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		agaagatcccaaagaaaatag	0.313000													32	48					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043556	74043556	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr2:74043556C>T	uc002sjr.1	+	2	2327	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	736										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ACATGTTTCTCGGCGGCCAAA	0.537000													8	195					0	0	1	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158671	26158671	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr6:26158671T>C	uc003ngr.3	+	0	323	c.274T>C	c.(274-276)Tcc>Ccc	p.S92P	HIST1H2BD_uc003ngs.3_Missense_Mutation_p.S92P	NM_021063	NP_619790	P58876	H2B1D_HUMAN	Homo sapiens histone cluster 1, H2bd (HIST1H2BD), transcript variant 1, mRNA.	92					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GACCATCACCTCCAGGGAGAT	0.627000													62	86					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7707861	7707861	+	Silent	SNP	C	C	T	rs112493968	byFrequency	TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr5:7707861C>T	uc003jdz.1	+	8	1378	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	ADCY2_uc011cmo.1_Silent_p.G257G	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	437					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTTGAATGGCGCTTATAAAG	0.413000													49	80					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43882304	43882304	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:43882304T>G	uc009vws.1	+	6	955	c.871T>G	c.(871-873)Ttt>Gtt	p.F291V	SZT2_uc001cjk.2_5'UTR	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	291						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGCTTGTTCCTTTGTCCAGGT	0.483000													12	8					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185969305	185969305	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr1:185969305G>C	uc001grq.1	+	25	4232	c.4003G>C	c.(4003-4005)Gag>Cag	p.E1335Q		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1335	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACAATGGGGAGTACATCTG	0.418000													67	68					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88514828	88514828	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr12:88514828C>T	uc001tar.3	-	13	1649	c.1305G>A	c.(1303-1305)agG>agA	p.R435R	CEP290_uc001tat.3_Silent_p.R197R|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	435					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TATCCTTTTCCCTAGCATCAG	0.358000													17	44					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				36	66					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936076	94936076	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr14:94936076G>A	uc001ydf.3	-	1	317	c.156C>T	c.(154-156)tcC>tcT	p.S52S	SERPINA9_uc001yde.3_Silent_p.S52S|SERPINA9_uc010avc.3_Intron|SERPINA9_uc001ydg.3_Intron|SERPINA9_uc001ydh.1_Silent_p.S52S|SERPINA9_uc001ydi.1_Intron	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	34					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTTTGTGGAGGAAGGGCGGG	0.562000													27	50					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101735461	101735461	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr13:101735461C>T	uc001vox.1	-	31	3861	c.3672G>A	c.(3670-3672)tcG>tcA	p.S1224S		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1224						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAGCAACACCGACTGGGCCA	0.413000													25	42					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30694875	30694875	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr8:30694875C>T	uc003xil.3	-	2	7776	c.7776G>A	c.(7774-7776)gtG>gtA	p.V2592V		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2592										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAAAAGTATGCACAGTATTGG	0.378000													61	100					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509419	106509419	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr7:106509419C>A	uc003vdv.4	+	1	1498	c.1413C>A	c.(1411-1413)caC>caA	p.H471Q	PIK3CG_uc003vdu.3_Missense_Mutation_p.H471Q|PIK3CG_uc003vdw.3_Missense_Mutation_p.H471Q	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	471					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGATAGACCACCGTTTCCTCC	0.532000													46	75					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111484884	111484884	+	Silent	SNP	A	A	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr7:111484884A>G	uc003vfy.3	-	24	2940	c.2671T>C	c.(2671-2673)Ttg>Ctg	p.L891L	DOCK4_uc003vfw.3_Silent_p.L332L|DOCK4_uc003vfx.3_Silent_p.L891L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	891					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTGATCTCCAATATGGTCCTC	0.463000													9	174					0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58196616	58196616	+	Silent	SNP	G	G	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr3:58196616G>C	uc003djo.1	-	0	115	c.18C>G	c.(16-18)gcC>gcG	p.A6A	DNASE1L3_uc011bfd.1_Silent_p.A6A|DNASE1L3_uc003djp.1_Silent_p.A6A|DNASE1L3_uc003djq.1_Silent_p.A6A	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	6					DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GCAGCAGTGGGGCCAGCTCCC	0.587000													36	57					0	0	1	0	0
ZFAND1	79752	broad.mit.edu	37	8	82614952	82614952	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr8:82614952T>A	uc003ycj.2	-	7	808	c.785A>T	c.(784-786)aAt>aTt	p.N262I	ZFAND1_uc010lzx.2_Missense_Mutation_p.N255I|ZFAND1_uc022awt.1_Non-coding_Transcript|ZFAND1_uc022awu.1_Missense_Mutation_p.N155I|ZFAND1_uc003yck.2_Missense_Mutation_p.N155I	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN	Homo sapiens zinc finger, AN1-type domain 1 (ZFAND1), transcript variant 1, mRNA.	262							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGATTCAACATTTTTACAGAA	0.294000													48	73					0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48403341	48403341	+	Silent	SNP	C	C	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chrX:48403341C>A	uc011mmb.1	+	2	416	c.330C>A	c.(328-330)ctC>ctA	p.L110L	TBC1D25_uc004dka.1_Silent_p.L106L|TBC1D25_uc011mly.1_Silent_p.L48L|TBC1D25_uc004dkb.1_Intron|TBC1D25_uc011mlz.1_Intron|TBC1D25_uc011mma.1_5'UTR|TBC1D25_uc004dkc.1_Intron|TBC1D25_uc011mmd.1_5'UTR|TBC1D25_uc011mmc.1_Intron	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	106						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACTGGGACCTCAGCACAGCCT	0.562000													3	34					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98927427	98927427	+	Silent	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr12:98927427T>C	uc001tfh.2	+	3	1687	c.1392T>C	c.(1390-1392)gtT>gtC	p.V464V	TMPO_uc001tfi.2_Intron|TMPO_uc001tfl.3_Intron|TMPO_uc001tfj.3_Intron|TMPO_uc001tfk.3_Intron	NM_003276	NP_003267	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 1, mRNA.	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCAAAACTGTTGTCTCTCATT	0.423000													37	57					0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124618648	124618648	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr11:124618648C>T	uc001qas.3	-	4	674	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	VSIG2_uc001qat.3_Missense_Mutation_p.G200S	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	200	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ATGAGCTGGCCAGACACCTCA	0.537000													19	28					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180334307	180334307	+	Silent	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr3:180334307T>C	uc010hxe.3	-	17	2698	c.2583A>G	c.(2581-2583)caA>caG	p.Q861Q	CCDC39_uc003fkn.3_Non-coding_Transcript|TTC14_uc003fkm.2_Intron	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	861					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTATTACCTGTTGAAAGTATG	0.264000													24	30					0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100681607	100681607	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr1:100681607A>G	uc001dta.3	-	5	737	c.704T>C	c.(703-705)aTg>aCg	p.M235T	DBT_uc010oug.2_Missense_Mutation_p.M54T|DBT_uc021oqo.1_Missense_Mutation_p.M235T	NM_001918	NP_001909	P11182	ODB2_HUMAN	Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.	235					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	p.M235I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AGGAACAGTCATGTCTTTTGG	0.373000													114	175					0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123513260	123513260	+	Silent	SNP	G	G	A	rs142613556		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr11:123513260G>A	uc001pza.1	-	3	746	c.339C>T	c.(337-339)aaC>aaT	p.N113N	SCN3B_uc001pzb.1_Silent_p.N113N	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	113	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GGCCAGAGTCGTTCAGAGTGA	0.602000													5	97					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23293036	23293036	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr7:23293036G>T	uc003swc.3	+	1	342	c.181G>T	c.(181-183)Gtg>Ttg	p.V61L	GPNMB_uc003swa.2_Missense_Mutation_p.V61L|GPNMB_uc003swb.3_Missense_Mutation_p.V61L|GPNMB_uc011jyy.2_Missense_Mutation_p.V61L|GPNMB_uc011jyz.2_Intron	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.	61					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ACTCTACCCAGTGTGGAAGCG	0.433000													4	80					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51855027	51855027	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr12:51855027G>A	uc001rys.1	+	8	1231	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	SLC4A8_uc010sni.2_Silent_p.Q298Q|SLC4A8_uc001rym.3_Silent_p.Q298Q|SLC4A8_uc001ryn.3_Silent_p.Q298Q|SLC4A8_uc001ryo.2_Silent_p.Q298Q|SLC4A8_uc001ryp.1_Silent_p.Q298Q|SLC4A8_uc010snj.2_Silent_p.Q378Q|SLC4A8_uc001ryq.4_Silent_p.Q351Q|SLC4A8_uc001ryr.3_Silent_p.Q351Q|SLC4A8_uc010snk.2_Silent_p.Q298Q	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	351					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)		GGAAAGGTCAGCAGTACCATG	0.378000													3	54					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421407	62421407	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr20:62421407G>A	uc002ygv.2	-	1	905	c.704C>T	c.(703-705)cCg>cTg	p.P235L	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GTACTGAGACGGTGAAACCTG	0.602000													3	43					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940654	144940654	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr8:144940654G>A	uc003zaa.1	-	0	6781	c.6768C>T	c.(6766-6768)ccC>ccT	p.P2256P		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2256						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCGTGCCGGGCCGCAGCA	0.726000													3	39					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8526058	8526058	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr1:8526058C>T	uc001ape.3	-	11	1940	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D	RERE_uc001apf.3_Missense_Mutation_p.G377D|RERE_uc010nzx.1_Missense_Mutation_p.G109D|RERE_uc001aph.1_Missense_Mutation_p.G377D	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	377	ELM2.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGGGCTTTGCCAGCATCGTA	0.507000													3	45					0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20220952	20220952	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr13:20220952A>T	uc001umg.3	+	2	840	c.739A>T	c.(739-741)Aaa>Taa	p.K247*	MPHOSPH8_uc001umh.3_Nonsense_Mutation_p.K247*|MPHOSPH8_uc001umi.3_5'UTR	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	247	Lys-rich.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		agaagatcccaaagaaaatag	0.313000													32	48					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043556	74043556	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr2:74043556C>T	uc002sjr.1	+	2	2327	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	736										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ACATGTTTCTCGGCGGCCAAA	0.537000													8	195					0	0	1	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158671	26158671	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr6:26158671T>C	uc003ngr.3	+	0	323	c.274T>C	c.(274-276)Tcc>Ccc	p.S92P	HIST1H2BD_uc003ngs.3_Missense_Mutation_p.S92P	NM_021063	NP_619790	P58876	H2B1D_HUMAN	Homo sapiens histone cluster 1, H2bd (HIST1H2BD), transcript variant 1, mRNA.	92					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GACCATCACCTCCAGGGAGAT	0.627000													62	86					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7707861	7707861	+	Silent	SNP	C	C	T	rs112493968	byFrequency	TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr5:7707861C>T	uc003jdz.1	+	8	1378	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	ADCY2_uc011cmo.1_Silent_p.G257G	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	437					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTTGAATGGCGCTTATAAAG	0.413000													49	80					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43882304	43882304	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr1:43882304T>G	uc009vws.1	+	6	955	c.871T>G	c.(871-873)Ttt>Gtt	p.F291V	SZT2_uc001cjk.2_5'UTR	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	291						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGCTTGTTCCTTTGTCCAGGT	0.483000													12	8					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185969305	185969305	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr1:185969305G>C	uc001grq.1	+	25	4232	c.4003G>C	c.(4003-4005)Gag>Cag	p.E1335Q		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1335	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACAATGGGGAGTACATCTG	0.418000													67	68					0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88514828	88514828	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr12:88514828C>T	uc001tar.3	-	13	1649	c.1305G>A	c.(1303-1305)agG>agA	p.R435R	CEP290_uc001tat.3_Silent_p.R197R|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	435					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TATCCTTTTCCCTAGCATCAG	0.358000													17	44					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				36	66					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94936076	94936076	+	Silent	SNP	G	G	A			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr14:94936076G>A	uc001ydf.3	-	1	317	c.156C>T	c.(154-156)tcC>tcT	p.S52S	SERPINA9_uc001yde.3_Silent_p.S52S|SERPINA9_uc010avc.3_Intron|SERPINA9_uc001ydg.3_Intron|SERPINA9_uc001ydh.1_Silent_p.S52S|SERPINA9_uc001ydi.1_Intron	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	34					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTTTGTGGAGGAAGGGCGGG	0.562000													27	50					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101735461	101735461	+	Silent	SNP	C	C	T			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr13:101735461C>T	uc001vox.1	-	31	3861	c.3672G>A	c.(3670-3672)tcG>tcA	p.S1224S		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1224						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAGCAACACCGACTGGGCCA	0.413000													25	42					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108178672	108178672	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	77465209-02c9-488e-af29-1e23934a2e6d	g.chr11:108178672delC	uc001pkb.1	+	37	6108	c.5723delC	c.(5722-5724)acafs	p.T1908fs	ATM_uc009yxr.1_Frame_Shift_Del_p.T1908fs|ATM_uc001pke.2_Frame_Shift_Del_p.T560fs|ATM_uc001pkg.1_Frame_Shift_Del_p.T265fs|ATM_uc009yxt.1_Intron	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1908					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			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)		TCACAAAGAACAATGCTTGCT	0.398			"""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)			23	43	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108178672	108178672	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A1CT-01A-11D-A13W-08	TCGA-EM-A1CT-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae598be-7039-4405-a512-974ad04a6696	7d8abe02-7fa8-4a9f-b2de-43753e596ef4	g.chr11:108178672delC	uc001pkb.1	+	37	6108	c.5723delC	c.(5722-5724)acafs	p.T1908fs	ATM_uc009yxr.1_Frame_Shift_Del_p.T1908fs|ATM_uc001pke.2_Frame_Shift_Del_p.T560fs|ATM_uc001pkg.1_Frame_Shift_Del_p.T265fs|ATM_uc009yxt.1_Intron	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1908					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			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)		TCACAAAGAACAATGCTTGCT	0.398			"""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)			23	43	---	---	---	---