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
SLC35B4	84912	broad.mit.edu	37	7	133986513	133986513	+	Splice_Site	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr7:133986513C>A	ENST00000378509.4	-	6	786	c.487_splice	c.e6+1	p.G163_splice		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	163						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						TTGTACTTGCCTAGTAACCAC	0.393000													30	170					4.31634e-10	6.93697e-09	0.000409698	1	0
LRP4	4038	broad.mit.edu	37	11	46924362	46924362	+	Missense_Mutation	SNP	G	G	C	rs142946526	by1000genomes	TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr11:46924362G>C	ENST00000378623.1	-	2	413	c.171C>G	c.(169-171)tgC>tgG	p.C57W		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	57	LDL-receptor class A 1.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGTGGTCCCCGCAGTCATTGT	0.592000													5	48					0	0	0.000602214	0	0
MCOLN2	255231	broad.mit.edu	37	1	85405312	85405312	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:85405312C>A	ENST00000370608.3	-	9	1101	c.1034G>T	c.(1033-1035)gGc>gTc	p.G345V	MCOLN2_ENST00000284027.5_Missense_Mutation_p.G317V|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	345						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GACATACCAGCCGTTGATGAA	0.423000													23	49					7.41877e-09	1.13453e-07	0.000229342	1	0
MAP3K10	4294	broad.mit.edu	37	19	40710443	40710443	+	Silent	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr19:40710443G>A	ENST00000253055.3	+	3	1203	c.915G>A	c.(913-915)gaG>gaA	p.E305E	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	305	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCTACCGTGAGATCGACGCCT	0.667000													6	39					0	0	8.12818e-05	0	0
TPTE	7179	broad.mit.edu	37	21	10959797	10959797	+	Silent	SNP	C	C	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr21:10959797C>G	ENST00000298232.7	-	7	490	c.123G>C	c.(121-123)gtG>gtC	p.V41V	TPTE_ENST00000342420.5_Intron|TPTE_ENST00000361285.4_Silent_p.V59V|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	59					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V41V(1)|p.V59V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCGTGCTAACACACTTTAGC	0.328000													4	111					0	0	0.00024832	0	0
MROH2B	133558	broad.mit.edu	37	5	41038924	41038924	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr5:41038924G>T	ENST00000399564.4	-	21	2578	c.2128C>A	c.(2128-2130)Ctc>Atc	p.L710I	MROH2B_ENST00000506092.2_Missense_Mutation_p.L265I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GGAGCATGGAGGGCCACTGCT	0.478000													9	37					3.86212e-05	0.000543111	0.000673444	1	0
SYT10	341359	broad.mit.edu	37	12	33592376	33592376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr12:33592376G>A	ENST00000228567.3	-	1	378	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	28						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CACTCCACCTGGCCGGCGAAG	0.622000													31	150					0	0	0.000279167	0	0
RTL1	388015	broad.mit.edu	37	14	101350989	101350989	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr14:101350989C>A	ENST00000534062.1	-	1	195	c.137G>T	c.(136-138)gGg>gTg	p.G46V		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	46										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GCTGGCTGGCCCTGCCTCTCC	0.597000													12	22					6.40141e-05	0.000892232	0.000978159	1	0
SAMD9L	219285	broad.mit.edu	37	7	92762430	92762430	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr7:92762430C>G	ENST00000318238.4	-	5	4071	c.2855G>C	c.(2854-2856)aGt>aCt	p.S952T	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S952T|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S952T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	952										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCAGGGTGTACTAGTGTATAT	0.383000													3	28					0	0	6.4e-05	0	0
YTHDC2	64848	broad.mit.edu	37	5	112860861	112860861	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr5:112860861T>A	ENST00000161863.4	+	3	675	c.462T>A	c.(460-462)ttT>ttA	p.F154L	YTHDC2_ENST00000515883.1_Missense_Mutation_p.F154L	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	154							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GAAATGTGTTTGCAGTTGAAG	0.353000													6	34					0	0	8.12818e-05	0	0
HS3ST5	222537	broad.mit.edu	37	6	114383989	114383989	+	Silent	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr6:114383989C>T	ENST00000312719.5	-	4	1209	c.21G>A	c.(19-21)gcG>gcA	p.A7A	RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.A7A			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	7					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GTCTCAGCCACGCCTGCTGTT	0.547000													10	62					0	0	0.000673444	0	0
KLK11	11012	broad.mit.edu	37	19	51525889	51525889	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr19:51525889T>A	ENST00000594768.1	-	6	946	c.761A>T	c.(760-762)gAt>gTt	p.D254V	KLK11_ENST00000319720.7_Missense_Mutation_p.D222V|KLK11_ENST00000453757.3_Missense_Mutation_p.D222V|KLK11_ENST00000600362.1_Missense_Mutation_p.D81V|KLK11_ENST00000391804.3_Missense_Mutation_p.D247V	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	254	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CGCACACGGATCCTGGCCCCA	0.552000													7	111					0	0	0.000274275	0	0
NLRP12	91662	broad.mit.edu	37	19	54313810	54313810	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr19:54313810G>T	ENST00000324134.6	-	3	1271	c.1103C>A	c.(1102-1104)gCa>gAa	p.A368E	NLRP12_ENST00000535162.1_Missense_Mutation_p.A368E|NLRP12_ENST00000391773.1_Missense_Mutation_p.A368E|NLRP12_ENST00000354278.3_Missense_Mutation_p.A368E|NLRP12_ENST00000345770.5_Missense_Mutation_p.A368E|NLRP12_ENST00000391775.3_Missense_Mutation_p.A368E|NLRP12_ENST00000351894.4_Missense_Mutation_p.A368E|NLRP12_ENST00000391772.1_Missense_Mutation_p.A368E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	368	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTTCCTTTCTGCCTCAGAGAA	0.542000													38	171					2.52637e-11	4.18846e-10	0.00111076	1	0
FBXO10	26267	broad.mit.edu	37	9	37541466	37541466	+	Silent	SNP	T	T	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr9:37541466T>C	ENST00000432825.2	-	2	348	c.300A>G	c.(298-300)ctA>ctG	p.L100L	RP11-613M10.8_ENST00000537239.2_3'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	100						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TCCGGCGGAATAGAGAAAAGC	0.552000													8	33					0	0	0.000157383	0	0
ZFAT	57623	broad.mit.edu	37	8	135622829	135622829	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr8:135622829G>A	ENST00000520727.1	-	5	781	c.482C>T	c.(481-483)cCa>cTa	p.P161L	ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000429442.2_Missense_Mutation_p.P161L|ZFAT_ENST00000520214.1_Missense_Mutation_p.P161L|ZFAT_ENST00000377838.3_Missense_Mutation_p.P173L|ZFAT_ENST00000520356.1_Missense_Mutation_p.P161L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGTGACCGTGGTCTTTTCGA	0.443000													17	66					0	0	0.000229342	0	0
RTKN	6242	broad.mit.edu	37	2	74659594	74659594	+	Splice_Site	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr2:74659594C>T	ENST00000305557.5	-	3	857	c.272_splice	c.e3+1	p.R91_splice	RTKN_ENST00000272430.5_Splice_Site_p.R104_splice|RTKN_ENST00000233330.6_Splice_Site_p.R54_splice	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	104					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						CCTTGCTCACCGCCGGCTTGT	0.637000													6	79					0	0	8.12818e-05	0	0
PIM2	11040	broad.mit.edu	37	X	48772360	48772360	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:48772360C>A	ENST00000376509.4	-	4	721	c.532G>T	c.(532-534)Gcc>Tcc	p.A178S		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	178	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						ATGAGTTTGGCACAGCCACGG	0.498000													11	43					9.05144e-12	1.5166e-10	0.000151284	1	0
GPR98	84059	broad.mit.edu	37	5	90072275	90072275	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr5:90072275G>T	ENST00000405460.2	+	61	12505	c.12409G>T	c.(12409-12411)Gca>Tca	p.A4137S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4137					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTAGGTAGTGCATCAATAAT	0.418000													5	17					0.000602214	0.00817662	0.000602214	1	0
AKAP9	10142	broad.mit.edu	37	7	91570311	91570311	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr7:91570311A>T	ENST00000359028.2	+	0	123				AKAP9_ENST00000394564.1_De_novo_Start_OutOfFrame|AKAP9_ENST00000356239.3_De_novo_Start_OutOfFrame|AKAP9_ENST00000358100.2_De_novo_Start_OutOfFrame			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCGGCTCTCTAGGCCGTGGAG	0.652000			T	BRAF	papillary thyroid								5	37					0	0	0.000602214	0	0
TET1	80312	broad.mit.edu	37	10	70432756	70432756	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr10:70432756G>A	ENST00000373644.4	+	8	4987	c.4778G>A	c.(4777-4779)aGc>aAc	p.S1593N		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1593					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTTGGTAGAAGCCCAAGCCCC	0.368000													10	75					0	0	0.000978159	0	0
OR4M2	390538	broad.mit.edu	37	15	22368719	22368719	+	Silent	SNP	C	C	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr15:22368719C>G	ENST00000332663.2	+	1	242	c.144C>G	c.(142-144)acC>acG	p.T48T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCATTTGCACCATCAGTCTAG	0.428000													34	857					0	0	0.000814825	0	0
NF1	4763	broad.mit.edu	37	17	29664869	29664869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr17:29664869G>A	ENST00000358273.4	+	44	7058	c.6675G>A	c.(6673-6675)tgG>tgA	p.W2225*	NF1_ENST00000356175.3_Nonsense_Mutation_p.W2204*|NF1_ENST00000444181.2_Missense_Mutation_p.A11T|NF1_ENST00000417592.2_Missense_Mutation_p.A11T	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2225					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGTGCAAGTGGCTGGACCAGT	0.318000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			5	22					0	0	8.12818e-05	0	0
PTPRF	5792	broad.mit.edu	37	1	44071216	44071216	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:44071216G>T	ENST00000359947.4	+	19	3746	c.3406G>T	c.(3406-3408)Gtg>Ttg	p.V1136L	PTPRF_ENST00000438120.1_Missense_Mutation_p.V1127L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.V1127L|PTPRF_ENST00000422171.2_Missense_Mutation_p.V484L|PTPRF_ENST00000372414.3_Missense_Mutation_p.V1136L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1136					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTACATTGTTGTGGTGCCCAT	0.637000													8	42					2.17888e-05	0.000309165	0.000442599	1	0
DPY19L2	283417	broad.mit.edu	37	12	64038229	64038229	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr12:64038229T>A	ENST00000324472.4	-	6	940	c.757A>T	c.(757-759)Aat>Tat	p.N253Y	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	253					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATTAGTCCATTTAAAATAAAG	0.363000													14	30					0	0	0.000958276	0	0
FMR1NB	158521	broad.mit.edu	37	X	147106420	147106420	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:147106420G>T	ENST00000370467.3	+	5	742	c.668G>T	c.(667-669)aGa>aTa	p.R223I		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	223						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGACAACAGAGTTGTAACG	0.418000													17	91					3.32936e-07	4.90069e-06	0.00074312	1	0
ACSL4	2182	broad.mit.edu	37	X	108926642	108926642	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:108926642A>G	ENST00000340800.2	-	4	578	c.74T>C	c.(73-75)cTt>cCt	p.L25P	ACSL4_ENST00000469796.2_Missense_Mutation_p.L25P|ACSL4_ENST00000348502.6_Intron	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	25					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	AATAAATATAAGGGCACTGTA	0.373000													28	102					0	0	0.000184323	0	0
NTHL1	4913	broad.mit.edu	37	16	2089996	2089996	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr16:2089996A>C	ENST00000219066.1	-	6	886	c.868T>G	c.(868-870)Tgt>Ggt	p.C290G	NTHL1_ENST00000562951.1_5'UTR	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	290					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						ACAGGCAGACAGGTCTGCTGG	0.697000								Base excision repair (BER), DNA glycosylases					10	37					0	0	0.000978159	0	0
ZNF235	9310	broad.mit.edu	37	19	44792062	44792062	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr19:44792062T>A	ENST00000291182.4	-	5	1628	c.1526A>T	c.(1525-1527)cAt>cTt	p.H509L	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CTCTCCTGTATGGACCCTCTG	0.448000													8	160					0	0	0.000274275	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013291	142013291	+	RNA	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr7:142013291G>A	ENST00000390357.3	+	0	175																											ATGGGGCACAGGGCTATGTAT	0.433000													24	97					0	0	0.000586117	0	0
ERCC6L	54821	broad.mit.edu	37	X	71426847	71426847	+	Silent	SNP	T	T	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:71426847T>C	ENST00000373657.1	-	3	2003	c.1401A>G	c.(1399-1401)gtA>gtG	p.V467V	ERCC6L_ENST00000334463.3_Silent_p.V590V|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	590	Helicase C-terminal.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TTTTTTCCTCTACAGTCCCAC	0.368000													15	90					0	0	0.000308642	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162023	142162023	+	RNA	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr7:142162023G>T	ENST00000390371.3	-	0	295																											ATCTGGAGACGTTGTAGCCAT	0.512000													23	217					1.55795e-14	2.72641e-13	0.000229342	1	0
ACSL6	23305	broad.mit.edu	37	5	131302124	131302124	+	Silent	SNP	G	G	A	rs73264077	byFrequency	TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr5:131302124G>A	ENST00000379264.2	-	17	1806	c.1698C>T	c.(1696-1698)atC>atT	p.I566I	ACSL6_ENST00000296869.4_Silent_p.I566I|ACSL6_ENST00000379240.1_Silent_p.I541I|ACSL6_ENST00000544770.1_Silent_p.I450I|ACSL6_ENST00000379246.1_Silent_p.I552I|ACSL6_ENST00000431707.1_Silent_p.I521I|ACSL6_ENST00000543479.1_Silent_p.I541I|ACSL6_ENST00000379244.1_Silent_p.I541I|ACSL6_ENST00000379255.1_Silent_p.I466I|ACSL6_ENST00000379272.2_Silent_p.I556I|ACSL6_ENST00000357096.1_Silent_p.I466I|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379249.3_Silent_p.I541I	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	541					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCATTTTCCGATGTCTCCAG	0.542000													7	73					0	0	0.000274275	0	0
CACNA1C	775	broad.mit.edu	37	12	2693732	2693732	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr12:2693732C>T	ENST00000399655.1	+	16	2553	c.2288C>T	c.(2287-2289)aCa>aTa	p.T763I	CACNA1C_ENST00000399597.1_Missense_Mutation_p.T763I|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T763I|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T763I|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T763I|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T763I|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T763I|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T763I|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T763I|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T763I|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T763I|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T763I|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T763I|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T763I|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T763I|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T763I|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T763I|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T763I|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T763I|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T788I|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T763I|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T763I|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T763I	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	763					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GAGAGCCTCACATCTGCCCaa	0.517000													13	69					0	0	0.000151284	0	0
SLMO1	10650	broad.mit.edu	37	18	12420398	12420398	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr18:12420398T>A	ENST00000592149.1	+	1	467	c.44T>A	c.(43-45)gTg>gAg	p.V15E	SLMO1_ENST00000590956.1_Intron|SLMO1_ENST00000440960.1_Missense_Mutation_p.V36E|SLMO1_ENST00000336990.4_Missense_Mutation_p.V36E			Q96N28	SLMO1_HUMAN	slowmo homolog 1 (Drosophila)	36	PRELI/MSF1.									endometrium(1)	1						GTGCTGGGCGTGGATGTGCTA	0.711000													5	22					0	0	3.59834e-05	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354495	45354495	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr20:45354495G>T	ENST00000359271.2	+	2	1070	c.820G>T	c.(820-822)Gtg>Ttg	p.V274L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	274						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GCTGGCCTCTGTGGGGCTTGG	0.632000													31	75					6.90743e-12	1.16981e-10	0.000692331	1	0
ITSN2	50618	broad.mit.edu	37	2	24498701	24498701	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr2:24498701G>T	ENST00000355123.4	-	18	2405	c.1962C>A	c.(1960-1962)taC>taA	p.Y654*	ITSN2_ENST00000406921.3_Nonsense_Mutation_p.Y654*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.Y627*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	654					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGTGTGTTGTAGGTTTCTC	0.323000													10	53					4.68919e-08	7.03378e-07	0.000673444	1	0
ASPM	259266	broad.mit.edu	37	1	197102670	197102670	+	Silent	SNP	A	A	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:197102670A>T	ENST00000367409.4	-	6	2485	c.2229T>A	c.(2227-2229)ccT>ccA	p.P743P	ASPM_ENST00000294732.7_Silent_p.P743P|ASPM_ENST00000367408.1_5'UTR	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	743					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAGGTGCTCTAGGAACACTTA	0.373000													4	33					0	0	0.00024832	0	0
DPY19L4	286148	broad.mit.edu	37	8	95792635	95792635	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr8:95792635T>C	ENST00000414645.2	+	15	1723	c.1624T>C	c.(1624-1626)Tgg>Cgg	p.W542R		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	542						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TCTCAGCTTATGGAAAGAGGt	0.303000													11	38					0	0	0.000978159	0	0
PSME4	23198	broad.mit.edu	37	2	54148147	54148147	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr2:54148147T>A	ENST00000404125.1	-	18	2196	c.2141A>T	c.(2140-2142)tAc>tTc	p.Y714F	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	714					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGACAGAGTGTAACCCTGCTT	0.433000													25	120					0	0	0.000586117	0	0
TNKS2	80351	broad.mit.edu	37	10	93608227	93608227	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr10:93608227A>T	ENST00000371627.4	+	19	2825	c.2446A>T	c.(2446-2448)Aga>Tga	p.R816*		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	816					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CAATGGTGTGAGAAGCCCAGG	0.537000													9	80					0	0	0.000442599	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485353	97485353	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr13:97485353G>C	ENST00000376705.2	+	2	1341	c.1317G>C	c.(1315-1317)agG>agC	p.R439S		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	439						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGGAGCGGAGGCTGCAGCGAG	0.597000													3	49					0	0	0.00024832	0	0
PTPN4	5775	broad.mit.edu	37	2	120677693	120677693	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr2:120677693G>A	ENST00000263708.2	+	12	1648	c.877G>A	c.(877-879)Gca>Aca	p.A293T		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	293	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GAATTACAGAGCATGTAAAAA	0.333000													12	78					0	0	0.000978159	0	0
ZNF584	201514	broad.mit.edu	37	19	58927210	58927210	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr19:58927210G>T	ENST00000599238.1	+	4	674	c.208G>T	c.(208-210)Gcc>Tcc	p.A70S	ZNF584_ENST00000306910.4_Intron|ZNF584_ENST00000322834.7_Missense_Mutation_p.G98V|ZNF584_ENST00000596921.1_Intron|ZNF584_ENST00000593920.1_Intron			Q8IVC4	ZN584_HUMAN	zinc finger protein 584	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		TGCCTCTCTGGCCTGCGTCTC	0.498000													7	51					5.68852e-11	9.23652e-10	0.000274275	1	0
DARS	1615	broad.mit.edu	37	2	136673803	136673803	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr2:136673803C>T	ENST00000264161.4	-	11	1314	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	DARS_ENST00000537273.1_Missense_Mutation_p.D267N	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	367					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	AACCTCAGATCGTCTTCATCT	0.418000													9	57					0	0	0.000673444	0	0
COL15A1	1306	broad.mit.edu	37	9	101824569	101824569	+	Missense_Mutation	SNP	C	C	T	rs142838918	byFrequency	TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr9:101824569C>T	ENST00000375001.3	+	38	3997	c.3574C>T	c.(3574-3576)Cct>Tct	p.P1192S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1192	Nonhelical region 10 (NC10).			Missing (in Ref. 2; AAC78500).	angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			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)				CCCTCCACCCCCTGCGCTTTC	0.458000													7	39					0	0	0.000274275	0	0
ABCA9	10350	broad.mit.edu	37	17	66985997	66985997	+	Silent	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr17:66985997C>T	ENST00000340001.4	-	30	4123	c.3912G>A	c.(3910-3912)aaG>aaA	p.K1304K	ABCA9_ENST00000453985.2_Silent_p.K1266K|ABCA9_ENST00000370732.2_Silent_p.K1304K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1304	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CAATTTTTTTCTTCCTTTTAG	0.358000													8	48					0	0	0.000157383	0	0
OR2L13	284521	broad.mit.edu	37	1	248263055	248263055	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:248263055C>A	ENST00000366478.2	+	3	715	c.378C>A	c.(376-378)tgC>tgA	p.C126*	OR2L13_ENST00000358120.2_Nonsense_Mutation_p.C126*	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGGCCATCTGCCACTCTCTCT	0.502000													25	243					3.08376e-08	4.67012e-07	0.00047179	1	0
KIAA1462	57608	broad.mit.edu	37	10	30317017	30317017	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr10:30317017C>G	ENST00000375377.1	-	3	2161	c.2060G>C	c.(2059-2061)aGa>aCa	p.R687T		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	687										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTGCTGATCTCTGTACCGGTG	0.527000													14	51					0	0	0.000422831	0	0
CPVL	54504	broad.mit.edu	37	7	29070208	29070208	+	Silent	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr7:29070208C>A	ENST00000409850.1	-	16	1951	c.1305G>T	c.(1303-1305)gcG>gcT	p.A435A	CPVL_ENST00000265394.5_Silent_p.A435A|CPVL_ENST00000396276.3_Silent_p.A435A			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	435			A -> V (in dbSNP:rs7313).		proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GGAAGTCACCCGCTTGCCGGA	0.478000													35	190					5.71845e-15	1.02347e-13	0.00111076	1	0
UTRN	7402	broad.mit.edu	37	6	144803496	144803496	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr6:144803496G>A	ENST00000367545.3	+	26	3659	c.3659G>A	c.(3658-3660)aGa>aAa	p.R1220K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1220					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTTTGTAATAGAATTCGAGGA	0.353000													11	32					0	0	0.000151284	0	0
COL4A6	1288	broad.mit.edu	37	X	107418883	107418883	+	Splice_Site	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:107418883C>A	ENST00000394872.2	-	29	3065		c.e29+1		COL4A6_ENST00000545689.1_Splice_Site|COL4A6_ENST00000334504.7_Splice_Site|COL4A6_ENST00000538570.1_Splice_Site|COL4A6_ENST00000372216.4_Splice_Site			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6						cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCCCAGCTCACCCTTTTCACC	0.428000									Alport syndrome with Diffuse Leiomyomatosis				15	68					1.56452e-12	2.6784e-11	0.000958276	1	0
OR6B1	135946	broad.mit.edu	37	7	143701548	143701548	+	Silent	SNP	T	T	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr7:143701548T>C	ENST00000408922.2	+	1	527	c.459T>C	c.(457-459)ttT>ttC	p.F153F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CCATTGGCTTTGGCATCTCCC	0.532000													4	31					0	0	0.00024832	0	0
HCRTR1	3061	broad.mit.edu	37	1	32084987	32084987	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:32084987C>T	ENST00000403528.2	+	3	579	c.194C>T	c.(193-195)aCg>aTg	p.T65M	HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Missense_Mutation_p.T65M|HCRTR1_ENST00000373706.5_Missense_Mutation_p.T65M	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	65					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GTGGGCAACACGCTGGGTAGG	0.602000													18	58					0	0	0.000566183	0	0
F8	2157	broad.mit.edu	37	X	154158121	154158121	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:154158121C>T	ENST00000360256.4	-	14	4144	c.3944G>A	c.(3943-3945)aGg>aAg	p.R1315K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1315	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGGAGATATCCTTGTGGTGCA	0.388000													13	130					0	0	0.000151284	0	0
CT45A1	541466	broad.mit.edu	37	X	134856769	134856769	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:134856769A>C	ENST00000370741.3	+	5	789	c.544A>C	c.(544-546)Aag>Cag	p.K182Q	CT45A1_ENST00000482795.1_3'UTR	NM_001017417.1	NP_001017417.1	Q5HYN5	CT451_HUMAN	cancer/testis antigen family 45, member A1	182																	TAAGCACCTTAAGAAGAAACT	0.383000													6	900					0	0	0.000602214	0	0
HPSE2	60495	broad.mit.edu	37	10	100380391	100380391	+	Silent	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr10:100380391G>A	ENST00000370552.3	-	8	1232	c.1173C>T	c.(1171-1173)aaC>aaT	p.N391N	HPSE2_ENST00000404542.1_Silent_p.N279N|HPSE2_ENST00000370546.1_Silent_p.N391N|HPSE2_ENST00000370549.1_Silent_p.N333N	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	391					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CGGATAGATTGTTTGTGCCTC	0.483000													8	38					0	0	0.000442599	0	0
MIR509-3	100126337	broad.mit.edu	37	X	146341216	146341216	+	RNA	SNP	T	T	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:146341216T>C	ENST00000390725.1	-	0	28					NR_030629.1																						TAATTATACATGATTGCCACG	0.443000													8	304					0	0	0.000442599	0	0
MYO3B	140469	broad.mit.edu	37	2	171239692	171239692	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr2:171239692C>A	ENST00000334231.6	+	11	1205	c.1205C>A	c.(1204-1206)tCt>tAt	p.S402Y	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.S393Y|MYO3B_ENST00000409044.3_Missense_Mutation_p.S393Y			Q8WXR4	MYO3B_HUMAN	myosin IIIB	393	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AGCATATACTCTCCACAGGTA	0.348000													20	110					6.44725e-10	1.0257e-08	0.000295444	1	0
DAW1	164781	broad.mit.edu	37	2	228767798	228767798	+	Silent	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr2:228767798G>A	ENST00000373666.2	+	7	1257	c.621G>A	c.(619-621)caG>caA	p.Q207Q	DAW1_ENST00000545118.1_Silent_p.Q192Q|DAW1_ENST00000309931.2_Silent_p.Q207Q					dynein assembly factor with WDR repeat domains 1																		GGGACATTCAGAATGGCGAGG	0.358000													9	42					0	0	0.000673444	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243419506	243419506	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:243419506G>A	ENST00000366541.3	+	1	149	c.31G>A	c.(31-33)Gag>Aag	p.E11K	SDCCAG8_ENST00000343783.6_5'UTR|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.E11K|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.E11K	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	11					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CTCTACCCTGGAGGAGATTCT	0.607000													9	58					0	0	0.000442599	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													5	42					0.000602214	0.00817662	0.000602214	1	0
OR8I2	120586	broad.mit.edu	37	11	55861302	55861302	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr11:55861302C>G	ENST00000302124.2	+	1	550	c.519C>G	c.(517-519)atC>atG	p.I173M	OR8I2_ENST00000560768.1_Missense_Mutation_p.I173M			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATTCCAGCATCAATCATTTTT	0.448000													17	113					0	0	0.00074312	0	0
IGLL1	3543	broad.mit.edu	37	22	23915549	23915549	+	Silent	SNP	C	C	G	rs146592375		TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr22:23915549C>G	ENST00000330377.2	-	3	663	c.546G>C	c.(544-546)acG>acC	p.T182T	IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000458318.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	182	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						ACTGCTCGGGCGTCAGGCTCA	0.612000													20	54					0	0	0.000175454	0	0
CPB1	1360	broad.mit.edu	37	3	148559661	148559661	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr3:148559661C>T	ENST00000491148.1	+	7	860	c.526C>T	c.(526-528)Cat>Tat	p.H176Y	CPB1_ENST00000282957.4_Missense_Mutation_p.H176Y			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	176					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTGTGGTTTCCATGCCAGAGA	0.403000													13	99					0	0	0.00074312	0	0
OR2T1	26696	broad.mit.edu	37	1	248569566	248569566	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:248569566G>T	ENST00000366474.1	+	1	271	c.271G>T	c.(271-273)Gcc>Tcc	p.A91S		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGCACTGATGGCCAATGGGGT	0.433000													28	100					3.65163e-15	6.61071e-14	0.00106085	1	0
ANO3	63982	broad.mit.edu	37	11	26463564	26463564	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr11:26463564G>C	ENST00000256737.3	+	2	998	c.146G>C	c.(145-147)aGc>aCc	p.S49T	ANO3_ENST00000531646.1_Missense_Mutation_p.S49T|ANO3_ENST00000525139.1_Missense_Mutation_p.S33T|ANO3_ENST00000537978.1_Missense_Mutation_p.S33T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	49						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TACTCAAAGAGCTTGAGCCAG	0.473000													54	185					0	0	0.000781405	0	0
MEIS2	4212	broad.mit.edu	37	15	37390313	37390313	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr15:37390313G>A	ENST00000338564.5	-	3	546	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	MEIS2_ENST00000340545.5_Missense_Mutation_p.P21S|MEIS2_ENST00000559085.1_Missense_Mutation_p.P21S|MEIS2_ENST00000557796.2_Missense_Mutation_p.P21S|MEIS2_ENST00000444725.1_Missense_Mutation_p.P34S|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000561208.1_Missense_Mutation_p.P34S|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000424352.2_Missense_Mutation_p.P34S|MEIS2_ENST00000559561.1_Missense_Mutation_p.P34S|MEIS2_ENST00000382766.2_Missense_Mutation_p.P34S	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	34					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TGAACCGGGGGGATCGGCCGC	0.677000													13	46					0	0	0.000151284	0	0
HYDIN	54768	broad.mit.edu	37	16	70891750	70891750	+	Silent	SNP	G	G	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr16:70891750G>A	ENST00000393567.2	-	72	12303	c.12153C>T	c.(12151-12153)ttC>ttT	p.F4051F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4051										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCCCAGATGGAAAGGTGTGA	0.468000													8	28					0	0	0.000274275	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A	rs143538588	by1000genomes	TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3																						GGTCTGCAATGGACAGCTTCA	0.493000													5	50					0	0	3.59834e-05	0	0
ASS1	445	broad.mit.edu	37	9	133333866	133333866	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr9:133333866G>T	ENST00000372394.1	+	5	734	c.253G>T	c.(253-255)Gac>Tac	p.D85Y	ASS1_ENST00000352480.5_Missense_Mutation_p.D85Y|ASS1_ENST00000372393.3_Missense_Mutation_p.D85Y			P00966	ASSY_HUMAN	argininosuccinate synthase 1	85					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ACTGTATGAGGACCGCTACCT	0.612000													8	41					5.18039e-06	7.48543e-05	0.000157383	1	0
MITF	4286	broad.mit.edu	37	3	69990419	69990419	+	Silent	SNP	A	A	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr3:69990419A>G	ENST00000352241.4	+	5	862	c.699A>G	c.(697-699)ctA>ctG	p.L233L	MITF_ENST00000531774.1_Silent_p.L70L|MITF_ENST00000472437.1_Silent_p.L181L|MITF_ENST00000314589.5_Silent_p.L217L|MITF_ENST00000448226.2_Silent_p.L233L|MITF_ENST00000314557.6_Silent_p.L126L|MITF_ENST00000328528.6_Silent_p.L232L|MITF_ENST00000394351.3_Silent_p.L126L|MITF_ENST00000394355.2_Silent_p.L208L	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	233	Transactivation.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TCATTAGCCTAGAATCAAGTT	0.343000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						5	29					0	0	8.12818e-05	0	0
FLG	2312	broad.mit.edu	37	1	152277995	152277995	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:152277995C>T	ENST00000368799.1	-	3	9402	c.9367G>A	c.(9367-9369)Ggg>Agg	p.G3123R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3123	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGGTACCCCTGCCTTCCT	0.607000									Ichthyosis				12	399					0	0	0.000958276	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204433733	204433733	+	Splice_Site	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:204433733C>T	ENST00000367187.3	-	5	1591		c.e5-1		PIK3C2B_ENST00000424712.2_Splice_Site	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta						cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGATCGAAGGCTGTACAGGAA	0.522000													11	56					0	0	0.00010058	0	0
WNK3	65267	broad.mit.edu	37	X	54359891	54359891	+	Silent	SNP	G	G	T	rs144041648		TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:54359891G>T	ENST00000354646.2	-	2	654	c.216C>A	c.(214-216)gcC>gcA	p.A72A	WNK3_ENST00000375169.3_Silent_p.A72A|WNK3_ENST00000375159.2_Silent_p.A72A	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	72					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGGATGATTCGGCAACTTTGT	0.393000													31	105					1.30897e-18	2.45432e-17	0.000279167	1	0
PLXNA2	5362	broad.mit.edu	37	1	208390136	208390136	+	Nonsense_Mutation	SNP	C	C	A	rs144926586		TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:208390136C>A	ENST00000367033.3	-	2	1889	c.1132G>T	c.(1132-1134)Gag>Tag	p.E378*		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	378	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGGTTGCCCTCGCCCTGGTAG	0.622000													7	45					3.09899e-07	4.60462e-06	0.000274275	1	0
FAM47A	158724	broad.mit.edu	37	X	34149183	34149183	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:34149183T>C	ENST00000346193.3	-	1	1264	c.1213A>G	c.(1213-1215)Aag>Gag	p.K405E		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	405										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTCCAGTCTTGGGAGGCACT	0.577000													12	46					0	0	0.00010058	0	0
DDX26B	203522	broad.mit.edu	37	X	134681100	134681100	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:134681100C>A	ENST00000370752.4	+	6	986	c.652C>A	c.(652-654)Caa>Aaa	p.Q218K	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	218	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTTGAATCAATGTTTAGA	0.328000													21	182					8.24728e-16	1.5104e-14	0.000720815	1	0
NMUR2	56923	broad.mit.edu	37	5	151784021	151784021	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr5:151784021C>A	ENST00000255262.3	-	1	819	c.654G>T	c.(652-654)caG>caT	p.Q218H	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	218					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGGAGGTGACCTGGATGATGA	0.532000													16	110					2.23348e-06	3.25716e-05	0.000422831	1	0
PLXNA2	5362	broad.mit.edu	37	1	208390870	208390870	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:208390870T>A	ENST00000367033.3	-	2	1155	c.398A>T	c.(397-399)tAc>tTc	p.Y133F		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	133	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCCTGGTAGAGGCTCCC	0.582000													31	104					0	0	0.000279167	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130222678	130222678	+	Silent	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:130222678C>T	ENST00000276211.5	+	12	1908	c.1563C>T	c.(1561-1563)ccC>ccT	p.P521P	ARHGAP36_ENST00000370922.1_Silent_p.P509P|ARHGAP36_ENST00000370921.1_Silent_p.P385P	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	521					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GTAACCCTCCCATTCCGGAGC	0.532000													11	35					0	0	0.00010058	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870199	151870199	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:151870199C>T	ENST00000329342.5	+	3	1114	c.889C>T	c.(889-891)Cct>Tct	p.P297S		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	297	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGGAGGACCTCGCATTTC	0.552000													8	226					0	0	0.000157383	0	0
MMGT1	93380	broad.mit.edu	37	X	135047290	135047290	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:135047290C>A	ENST00000305963.2	-	4	676	c.289G>T	c.(289-291)Ggt>Tgt	p.G97C	MMGT1_ENST00000433339.2_Missense_Mutation_p.G162C	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	97						early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)	3						AGTACTCGACCACGATGATTA	0.363000													27	180					7.26314e-15	1.28533e-13	0.000184323	1	0
MCF2	4168	broad.mit.edu	37	X	138708452	138708452	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:138708452A>T	ENST00000520602.1	-	9	1052	c.767T>A	c.(766-768)gTa>gAa	p.V256E	MCF2_ENST00000370573.4_Missense_Mutation_p.V196E|MCF2_ENST00000519895.1_Missense_Mutation_p.V256E|MCF2_ENST00000338585.6_Missense_Mutation_p.V196E|MCF2_ENST00000414978.1_Missense_Mutation_p.V256E|MCF2_ENST00000536274.1_Missense_Mutation_p.V157E|MCF2_ENST00000370578.4_Missense_Mutation_p.V341E|MCF2_ENST00000370576.4_Missense_Mutation_p.V196E			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	196					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CATATCATGTACTTGAGTCAG	0.338000													19	69					0	0	0.000175454	0	0
ZNF644	84146	broad.mit.edu	37	1	91404020	91404020	+	Nonsense_Mutation	SNP	G	G	T	rs139340984		TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:91404020G>T	ENST00000370440.1	-	3	3108	c.2891C>A	c.(2890-2892)tCg>tAg	p.S964*	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.S964*|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	964					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GTAAGGACACGATTTCTTCTC	0.418000													6	38					5.68852e-11	9.23652e-10	0.000274275	1	0
MAP2	4133	broad.mit.edu	37	2	210560942	210560942	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr2:210560942G>T	ENST00000360351.4	+	7	4554	c.4048G>T	c.(4048-4050)Gct>Tct	p.A1350S	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.A1346S	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1350					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTCCCCAGAGGCTCCAGCTTC	0.483000													22	88					6.21321e-17	1.15127e-15	0.000375601	1	0
OR4Q3	441669	broad.mit.edu	37	14	20215836	20215836	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr14:20215836G>T	ENST00000331723.1	+	1	250	c.250G>T	c.(250-252)Ggg>Tgg	p.G84W		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAAGATGTTAGGGGATTTCCT	0.463000													19	63					6.94344e-10	1.09359e-08	0.00074312	1	0
ARID4A	5926	broad.mit.edu	37	14	58831552	58831552	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr14:58831552A>G	ENST00000355431.3	+	20	3118	c.2745A>G	c.(2743-2745)atA>atG	p.I915M	ARID4A_ENST00000395168.3_Missense_Mutation_p.I915M|ARID4A_ENST00000348476.3_Missense_Mutation_p.I915M|ARID4A_ENST00000431317.2_Missense_Mutation_p.I915M	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	915					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.I915I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CATCATTGATAGCAGAGTCAA	0.363000													16	52					0	0	0.00074312	0	0
EFTUD2	9343	broad.mit.edu	37	17	42929916	42929916	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr17:42929916T>A	ENST00000426333.2	-	26	2873	c.2576A>T	c.(2575-2577)cAg>cTg	p.Q859L	EFTUD2_ENST00000592576.1_Missense_Mutation_p.Q849L|EFTUD2_ENST00000591382.1_Missense_Mutation_p.Q859L|EFTUD2_ENST00000402521.3_Missense_Mutation_p.Q824L	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	859						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGGTGCATCCTGAGTCACGTG	0.522000													9	117					0	0	0.000673444	0	0
TNC	3371	broad.mit.edu	37	9	117826313	117826313	+	Silent	SNP	G	G	A	rs139061925		TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr9:117826313G>A	ENST00000350763.4	-	12	3933	c.3522C>T	c.(3520-3522)gcC>gcT	p.A1174A	TNC_ENST00000341037.4_Silent_p.A1174A|TNC_ENST00000535648.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Silent_p.A1174A|TNC_ENST00000340094.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1174	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGCCCACCTCGGCCACCACGA	0.502000													13	161					0	0	0.000566183	0	0
ATM	472	broad.mit.edu	37	11	108117855	108117855	+	Splice_Site	SNP	G	G	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr11:108117855G>C	ENST00000278616.4	+	8	1450		c.e8+1		ATM_ENST00000452508.2_Splice_Site	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated						cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			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)		CTGTCACCAGGTACAGTAAGT	0.338000			"""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)			6	31					0	0	8.12818e-05	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767776	31767776	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr19:31767776C>A	ENST00000240587.4	-	2	3250	c.2923G>T	c.(2923-2925)Gtc>Ttc	p.V975F		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	975					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CAAAAGAAGACGGGGTGGCCA	0.512000													24	62					7.41945e-09	1.13453e-07	0.000878237	1	0
CNTN3	5067	broad.mit.edu	37	3	74411061	74411061	+	Silent	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr3:74411061C>T	ENST00000263665.6	-	10	1371	c.1344G>A	c.(1342-1344)gtG>gtA	p.V448V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	448	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCTGCACGCTCACATCCCCCT	0.468000													7	71					0	0	8.12818e-05	0	0
PHIP	55023	broad.mit.edu	37	6	79655879	79655879	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr6:79655879T>C	ENST00000275034.4	-	38	4636	c.4469A>G	c.(4468-4470)aAt>aGt	p.N1490S	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1490					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTGAGCAGCATTGTGTCTTGG	0.438000													11	83					0	0	0.000978159	0	0
GCN1L1	10985	broad.mit.edu	37	12	120595667	120595667	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr12:120595667C>T	ENST00000300648.6	-	26	3085	c.3073G>A	c.(3073-3075)Ggg>Agg	p.G1025R		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1025					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCACCCGCCCGGGTGGGGTG	0.602000													10	32					0	0	0.000978159	0	0
LCP2	3937	broad.mit.edu	37	5	169697723	169697723	+	Splice_Site	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr5:169697723C>A	ENST00000046794.5	-	7	1138	c.523_splice	c.e7+1	p.D175_splice		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	175					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGGCCCTTACCGATGTACATG	0.582000													16	60					2.48551e-13	4.30184e-12	0.000566183	1	0
CHD7	55636	broad.mit.edu	37	8	61774808	61774808	+	Silent	SNP	T	T	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr8:61774808T>C	ENST00000423902.2	+	36	8363	c.7884T>C	c.(7882-7884)caT>caC	p.H2628H	CHD7_ENST00000524602.1_Silent_p.H579H	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2628					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGAAACGACATAGATGTCGAA	0.353000													4	16					0	0	0.00024832	0	0
SARDH	1757	broad.mit.edu	37	9	136529011	136529011	+	Nonstop_Mutation	SNP	T	T	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr9:136529011T>C	ENST00000371872.4	-	21	3014	c.2757A>G	c.(2755-2757)tgA>tgG	p.*919W	SARDH_ENST00000439388.1_Nonstop_Mutation_p.*919W|SARDH_ENST00000422262.2_Nonstop_Mutation_p.*751W|SARDH_ENST00000371868.1_Nonstop_Mutation_p.*369W	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	0					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCTGAGCCCTCAGTAGATTC	0.597000													4	170					0	0	0.000602214	0	0
XIST	7503	broad.mit.edu	37	X	73064238	73064238	+	RNA	SNP	G	G	C			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chrX:73064238G>C	ENST00000429829.1	-	0	8350					NR_001564.2																						CCCTTATCTAGTACACAAGAA	0.408000													8	29					0	0	0.000157383	0	0
DUSP27	92235	broad.mit.edu	37	1	167097506	167097506	+	Silent	SNP	A	A	G	rs145187556	byFrequency	TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:167097506A>G	ENST00000361200.2	+	6	3304	c.3138A>G	c.(3136-3138)ccA>ccG	p.P1046P	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.P1046P|DUSP27_ENST00000443333.1_Silent_p.P1046P			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1046					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCCGGACCCCAGAGTCCTCAG	0.577000													5	32					0	0	8.12818e-05	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762987	130762987	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr6:130762987C>T	ENST00000392429.1	+	2	3798	c.1420C>T	c.(1420-1422)Cat>Tat	p.H474Y	TMEM200A_ENST00000545622.1_Missense_Mutation_p.H474Y|TMEM200A_ENST00000296978.3_Missense_Mutation_p.H474Y	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	474						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GAGTTTTGAACATGATGAGTT	0.323000													10	29					0	0	0.000442599	0	0
GSAP	54103	broad.mit.edu	37	7	76982913	76982913	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr7:76982913C>A	ENST00000257626.7	-	17	1462	c.1384G>T	c.(1384-1386)Gac>Tac	p.D462Y		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		TGAATGAGGTCAAATGAATGG	0.378000													9	52					0.000673444	0.00906559	0.000673444	1	0
CAND1	55832	broad.mit.edu	37	12	67696217	67696217	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr12:67696217A>G	ENST00000545606.1	+	8	1552	c.1115A>G	c.(1114-1116)tAc>tGc	p.Y372C		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	372					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CCAGAATTCTACAAGACCGTC	0.423000													3	133					0	0	0.00024832	0	0
PLAG1	5324	broad.mit.edu	37	8	57080807	57080807	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr8:57080807C>T	ENST00000316981.3	-	4	501	c.22G>A	c.(22-24)Gat>Aat	p.D8N	PLAG1_ENST00000423799.2_Intron|PLAG1_ENST00000429357.2_Missense_Mutation_p.D8N	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	8	Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCTGACAAATCACCAGGAATG	0.463000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								7	67					0	0	0.000274275	0	0
RTN2	6253	broad.mit.edu	37	19	45989342	45989342	+	Silent	SNP	C	C	T			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr19:45989342C>T	ENST00000590526.1	-	10	1831	c.705G>A	c.(703-705)gtG>gtA	p.V235V	RTN2_ENST00000430715.2_Silent_p.V169V|RTN2_ENST00000245923.4_Silent_p.V509V|RTN2_ENST00000344680.4_Silent_p.V436V			O75298	RTN2_HUMAN	reticulon 2	509						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		ACTGATTGGTCACCAACCCCA	0.522000											OREG0025555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	74					0	0	0.000157383	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21358836	21358836	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr12:21358836C>A	ENST00000256958.2	+	11	1462	c.1366C>A	c.(1366-1368)Ctt>Att	p.L456I		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	456	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AGATGTACCACTTTCTTATTG	0.383000													7	47					8.12818e-05	0.00112297	8.12818e-05	1	0
MYH9	4627	broad.mit.edu	37	22	36710225	36710225	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr22:36710225C>G	ENST00000216181.5	-	13	1749	c.1519G>C	c.(1519-1521)Gac>Cac	p.D507H		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	507	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGCTGCAGGTCGAGGCCAAAG	0.582000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	34					0	0	0.000157383	0	0
LOC101928979	101928979	broad.mit.edu	37	1	145378949	145378950	+	RNA	INS	-	-	G	rs138005187	by1000genomes	TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:145378949_145378950insG	ENST00000419817.1	-	0	307																											ATGAAACGCGCCATTAGTACTG	0.460													2	4	---	---	---	---					
LRRN2	10446	broad.mit.edu	37	1	204587091	204587091	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr1:204587091delG	ENST00000367175.1	-	1	4242	c.2030delC	c.(2029-2031)ctfs	p.P677fs	LRRN2_ENST00000367177.3_Frame_Shift_Del_p.P677fs|LRRN2_ENST00000367176.3_Frame_Shift_Del_p.P677fs			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	677					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCGGACAGAAGGGGCACTCCA	0.652													11	108	---	---	---	---					
TBC1D9	23158	broad.mit.edu	37	4	141578684	141578684	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr4:141578684delC	ENST00000442267.2	-	12	2278	c.2204delG	c.(2203-2205)gafs	p.G735fs		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	735						intracellular	calcium ion binding|Rab GTPase activator activity	p.G735V(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ACAATACCTTCCCAAAACGGT	0.423													42	208	---	---	---	---					
TUBA3C	7278	broad.mit.edu	37	13	19751481	19751481	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr13:19751481delC	ENST00000400113.3	-	4	746	c.642delG	c.(640-642)cgfs	p.R215fs		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	215					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCAGGTTGCGCCGACATATGT	0.572													12	151	---	---	---	---					
INO80E	283899	broad.mit.edu	37	16	30016653	30016653	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr16:30016653delC	ENST00000563197.1	+	7	1642	c.625delC	c.(625-627)ccfs	p.P211fs	INO80E_ENST00000304516.7_Frame_Shift_Del_p.P172fs|INO80E_ENST00000567705.1_Frame_Shift_Del_p.P194fs	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	211	Pro-rich.				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex		p.T212fs*3(1)		endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						CCCTAAGATGCCCCCCCCCAC	0.672													3	5	---	---	---	---					
DNAH9	1770	broad.mit.edu	37	17	11656200	11656200	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6971-01A-11D-1945-08	TCGA-55-6971-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	972572de-a48b-4e1e-8482-05bf5e3e9299	9b08f4ea-7ef6-465c-8480-7430dfb204b0	g.chr17:11656200delC	ENST00000262442.3	+	33	6729	c.6661delC	c.(6661-6663)ccfs	p.P2221fs	DNAH9_ENST00000454412.2_Frame_Shift_Del_p.P2221fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2221	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCATGATGGGCCCAAGTGGAT	0.428													9	41	---	---	---	---