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
RP1L1	94137	broad.mit.edu	37	8	10469061	10469061	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:10469061A>G	ENST00000382483.3	-	4	2770	c.2547T>C	c.(2545-2547)tgT>tgC	p.C849C		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	849					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGTACCTGCCACACAGCCAGC	0.736000													5	2					0	0	0.000602	0	0
POU4F1	5457	broad.mit.edu	37	13	79177376	79177376	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:79177376G>A	ENST00000377208.5	-	1	297	c.86C>T	c.(85-87)tCc>tTc	p.S29F	RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606376.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	29					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GATGGCCTCGGAGCTGGAGTG	0.711000													14	14					0	0	0.003163	0	0
MAF1	84232	broad.mit.edu	37	8	145161324	145161324	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:145161324G>T	ENST00000534585.1	+	5	848	c.457G>T	c.(457-459)Gcg>Tcg	p.A153S	MAF1_ENST00000322428.5_Missense_Mutation_p.A153S|MAF1_ENST00000532522.1_Missense_Mutation_p.A153S			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	153					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus				central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGTGGAACGCGGTGGACGA	0.592000													20	30					1.15919e-05	1.62451e-05	0.008871	1	0
SLC17A7	57030	broad.mit.edu	37	19	49933857	49933857	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:49933857G>T	ENST00000221485.3	-	12	1773	c.1602C>A	c.(1600-1602)ccC>ccA	p.P534P	SLC17A7_ENST00000600601.1_Silent_p.P467P|SLC17A7_ENST00000543531.1_Silent_p.P522P	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	534	Pro-rich.				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGGGTGCAGGGGGTGCCCCCG	0.652000													10	20					1.08611e-07	1.63081e-07	0.000978	1	0
SCG3	29106	broad.mit.edu	37	15	51975582	51975582	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:51975582G>T	ENST00000220478.3	+	4	751	c.348G>T	c.(346-348)ctG>ctT	p.L116L	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	116					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ATCGAAAACTGATCGATGATT	0.323000													5	52					0.000602214	0.000796503	0.000602	1	0
MDGA2	161357	broad.mit.edu	37	14	47504236	47504236	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:47504236G>T	ENST00000426342.1	-	8	1649	c.903C>A	c.(901-903)gcC>gcA	p.A301A	MDGA2_ENST00000357362.3_Silent_p.A301A|MDGA2_ENST00000439988.2_Silent_p.A530A|MDGA2_ENST00000399232.2_Silent_p.A599A	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	530	Ig-like 3.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GCTGCACCAAGGCTTCCCTTG	0.398000													12	116					1.3612e-06	1.97484e-06	0.003163	1	0
GALNT18	374378	broad.mit.edu	37	11	11292739	11292739	+	Silent	SNP	C	C	G	rs140917604		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:11292739C>G	ENST00000227756.4	-	11	2187	c.1776G>C	c.(1774-1776)tcG>tcC	p.S592S		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		AGTGCTGGCCCGAGCACTTCT	0.617000													37	26					0	0	0.005524	0	0
PHC3	80012	broad.mit.edu	37	3	169846735	169846735	+	Missense_Mutation	SNP	T	T	C	rs113283659		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:169846735T>C	ENST00000494943.1	-	8	1557	c.1489A>G	c.(1489-1491)Atc>Gtc	p.I497V	PHC3_ENST00000467570.1_Missense_Mutation_p.I456V|PHC3_ENST00000495893.1_Missense_Mutation_p.I509V			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	497	Gln-rich.|Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCAATTGGGATTGGAGAGGAC	0.512000													3	57					0	0	0.004672	0	0
IL7R	3575	broad.mit.edu	37	5	35867563	35867563	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:35867563T>C	ENST00000303115.3	+	3	506	c.377T>C	c.(376-378)aTa>aCa	p.I126T	IL7R_ENST00000511982.1_Missense_Mutation_p.I126T|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000506850.1_Missense_Mutation_p.I126T|IL7R_ENST00000343305.4_Missense_Mutation_p.I126T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	126					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTAACCACTATAGGTAAGAAG	0.353000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						39	72					0	0	0.006999	0	0
MGAT5B	146664	broad.mit.edu	37	17	74901391	74901391	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:74901391G>T	ENST00000569840.2	+	7	1405	c.831G>T	c.(829-831)ggG>ggT	p.G277G	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Silent_p.G277G|MGAT5B_ENST00000428789.2_Silent_p.G288G	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	277						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAAGCTGGGGGCCACCCAGA	0.647000													20	7					3.5997e-14	6.33958e-14	0.002299	1	0
RPF1	80135	broad.mit.edu	37	1	84961575	84961575	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:84961575A>G	ENST00000370654.5	+	7	725	c.710A>G	c.(709-711)aAg>aGg	p.K237R		NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	237	Brix.				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						AGAAGAGGCAAGGACCCCACA	0.348000													13	20					0	0	0.003163	0	0
AMICA1	120425	broad.mit.edu	37	11	118081387	118081387	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:118081387G>A	ENST00000292067.7	-	3	650	c.209C>T	c.(208-210)cCt>cTt	p.P70L	AMICA1_ENST00000533261.1_Missense_Mutation_p.P80L|AMICA1_ENST00000356289.5_Missense_Mutation_p.P80L|AMICA1_ENST00000526620.1_Missense_Mutation_p.P41L	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	80	Ig-like V-type 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCGCCCAATAGGCACACTGAG	0.507000													64	48					0	0	0.003610	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40838982	40838982	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:40838982G>A	ENST00000264638.4	+	7	1179	c.962G>A	c.(961-963)cGc>cAc	p.R321H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	321	Laminin G-like 1.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CATAACTTCCGCGGCTGCATA	0.632000													26	13					0	0	0.004656	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98376423	98376423	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:98376423C>A	ENST00000339364.5	-	13	2106	c.1987G>T	c.(1987-1989)Gag>Tag	p.E663*	PIK3AP1_ENST00000371110.2_Nonsense_Mutation_p.E485*|PIK3AP1_ENST00000371109.3_Nonsense_Mutation_p.E262*	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	663						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TTTTGCTTCTCTCTCTGTCTT	0.433000													32	45					8.73648e-17	1.63169e-16	0.004289	1	0
KCND3	3752	broad.mit.edu	37	1	112524607	112524607	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:112524607C>G	ENST00000369697.1	-	1	811	c.742G>C	c.(742-744)Gct>Cct	p.A248P	KCND3_ENST00000315987.2_Missense_Mutation_p.A248P|KCND3_ENST00000302127.4_Missense_Mutation_p.A248P			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	248						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CGGCTGGGAGCCGCGAAGAGC	0.622000													22	35					0	0	0.002299	0	0
SLC12A5	57468	broad.mit.edu	37	20	44674636	44674636	+	Splice_Site	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:44674636G>A	ENST00000454036.1	+	13	1833		c.e13+1		SLC12A5_ENST00000539566.1_Splice_Site|SLC12A5_ENST00000243964.3_Splice_Site	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5						potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCTCTCTATGTGCGTGCCTG	0.582000													80	181					0	0	0.003610	0	0
TLR8	51311	broad.mit.edu	37	X	12938504	12938504	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:12938504C>A	ENST00000218032.6	+	2	1432	c.1345C>A	c.(1345-1347)Cgt>Agt	p.R449S	TLR8_ENST00000311912.5_Missense_Mutation_p.R467S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	449					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTCTTTTCAACGTCATATCCG	0.378000													63	9					8.52622e-23	1.72976e-22	0.003610	1	0
PTPRT	11122	broad.mit.edu	37	20	40714398	40714398	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:40714398G>A	ENST00000373198.3	-	29	4243	c.4008C>T	c.(4006-4008)caC>caT	p.H1336H	PTPRT_ENST00000373187.1_Silent_p.H1314H|PTPRT_ENST00000373193.3_Silent_p.H1317H|PTPRT_ENST00000373190.1_Silent_p.H1313H|PTPRT_ENST00000373201.1_Silent_p.H1304H|PTPRT_ENST00000373184.1_Silent_p.H1324H|PTPRT_ENST00000356100.2_Silent_p.H1323H	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1314	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAATATTCTGTGGATGATGT	0.577000													56	58					0	0	0.003610	0	0
STXBP5L	9515	broad.mit.edu	37	3	120871407	120871407	+	Splice_Site	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:120871407G>T	ENST00000273666.6	+	8	1024	c.753_splice	c.e8+1	p.E251_splice	STXBP5L_ENST00000472879.1_Splice_Site_p.E251_splice|STXBP5L_ENST00000497029.1_Splice_Site_p.E251_splice|STXBP5L_ENST00000471454.1_Splice_Site_p.E251_splice|STXBP5L_ENST00000492541.1_Splice_Site_p.E251_splice	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	251					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTATGATGAGGTAAGTGATT	0.353000													40	7					1.22674e-20	2.45349e-20	0.008740	1	0
OR5F1	338674	broad.mit.edu	37	11	55761953	55761953	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55761953C>T	ENST00000278409.1	-	1	148	c.149G>A	c.(148-150)aGg>aAg	p.R50K		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGAATCGATCCTGATTAAGAG	0.433000													12	47					0	0	0.001368	0	0
ATR	545	broad.mit.edu	37	3	142272147	142272147	+	Silent	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:142272147T>C	ENST00000350721.4	-	13	2848	c.2727A>G	c.(2725-2727)acA>acG	p.T909T	ATR_ENST00000383101.3_Silent_p.T845T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	909					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTCTAATTTCTGTGTATGCTG	0.413000								Other conserved DNA damage response genes					115	14					0	0	0.003610	0	0
DNAH17	8632	broad.mit.edu	37	17	76568965	76568965	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:76568965A>G	ENST00000389840.5	-	3	481	c.357T>C	c.(355-357)tcT>tcC	p.S119S	DNAH17_ENST00000585328.1_Silent_p.S119S					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTTTAACAGAGAAGAGAGGA	0.542000													7	12					0	0	0.004482	0	0
SLC6A11	6538	broad.mit.edu	37	3	10916777	10916777	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:10916777C>A	ENST00000254488.2	+	6	954	c.888C>A	c.(886-888)ccC>ccA	p.P296P		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	296					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TCTCCGACCCCCAGGTAAGAG	0.592000													29	9					7.26314e-15	1.3e-14	0.007291	1	0
PRR5L	79899	broad.mit.edu	37	11	36484178	36484178	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:36484178C>G	ENST00000378867.3	+	10	1354	c.999C>G	c.(997-999)caC>caG	p.H333Q	PRR5L_ENST00000530639.1_Missense_Mutation_p.H333Q|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.H260Q	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	333										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CCCCGCCCCACCGGCAGTGCT	0.672000													26	15					0	0	0.003954	0	0
DUSP27	92235	broad.mit.edu	37	1	167097711	167097711	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:167097711G>T	ENST00000361200.2	+	6	3509	c.3343G>T	c.(3343-3345)Gga>Tga	p.G1115*	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.G1115*|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.G1115*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1115					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						GTTTGCATCTGGACGGCGGTC	0.507000													19	22					1.96292e-10	3.18451e-10	0.001523	1	0
CD22	933	broad.mit.edu	37	19	35831821	35831821	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:35831821C>T	ENST00000085219.5	+	7	1353	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P	CD22_ENST00000270311.6_Silent_p.P309P|CD22_ENST00000544992.2_Silent_p.P429P|CD22_ENST00000536635.2_Silent_p.P341P|CD22_ENST00000419549.2_Silent_p.P257P|CD22_ENST00000341773.6_Silent_p.P252P|CD22_ENST00000594250.1_Silent_p.P252P	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	429	Ig-like C2-type 4.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TTCAAAACCCCATGCCGATTC	0.512000													9	23					0	0	0.008291	0	0
OR6A2	8590	broad.mit.edu	37	11	6816722	6816722	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:6816722C>A	ENST00000332601.3	-	1	406	c.218G>T	c.(217-219)tGg>tTg	p.W73L		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGACATACCAGATCTCCAG	0.438000													19	60					2.54575e-18	4.92211e-18	0.001523	1	0
PDGFRA	5156	broad.mit.edu	37	4	55140718	55140718	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:55140718G>T	ENST00000257290.5	+	11	1910	c.1579G>T	c.(1579-1581)Gtg>Ttg	p.V527L	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	527					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.V527M(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGAACTCACGGTGGCTGCTGC	0.478000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			53	10					1.0442e-30	2.28245e-30	0.003610	1	0
SLC39A12	221074	broad.mit.edu	37	10	18270281	18270281	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:18270281A>G	ENST00000377369.2	+	6	1238	c.965A>G	c.(964-966)cAg>cGg	p.Q322R	SLC39A12_ENST00000539911.1_Missense_Mutation_p.Q188R|SLC39A12_ENST00000377374.4_Missense_Mutation_p.Q322R|SLC39A12_ENST00000377371.3_Missense_Mutation_p.Q322R	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	322					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATATTTCTACAGAAGGGCCTC	0.458000													16	40					0	0	0.004990	0	0
CCL7	6354	broad.mit.edu	37	17	32597371	32597371	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:32597371G>T	ENST00000378569.2	+	1	132	c.62G>T	c.(61-63)gGg>gTg	p.G21V	CCL7_ENST00000394630.3_Missense_Mutation_p.G21V|CCL7_ENST00000394627.1_Missense_Mutation_p.G21V|CCL7_ENST00000200307.4_Missense_Mutation_p.G31V	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	21					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		AGCCCCCAGGGGCTTGCTCAG	0.557000													9	18					0.000442599	0.000590132	0.006214	1	0
RBM12B	389677	broad.mit.edu	37	8	94747176	94747176	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:94747176G>A	ENST00000399300.2	-	3	1676	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.S488F	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	488							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGACATCACAGAAAAATTTAC	0.408000													16	280					0	0	0.004990	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167441	140167441	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:140167441C>A	ENST00000504120.2	+	1	1566	c.1566C>A	c.(1564-1566)ccC>ccA	p.P522P	PCDHA1_ENST00000394633.3_Silent_p.P522P|PCDHA1_ENST00000378133.3_Silent_p.P522P	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGCAGCCCCTGGACCACG	0.677000													88	22					3.07327e-39	6.9324e-39	0.003610	1	0
MR1	3140	broad.mit.edu	37	1	181021464	181021464	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:181021464A>G	ENST00000367580.5	+	4	703	c.698A>G	c.(697-699)tAc>tGc	p.Y233C	MR1_ENST00000282990.6_Intron|MR1_ENST00000434571.2_Intron|MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.Y188C	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	233	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						CCAGAAATTTACATGACATGG	0.453000													37	34					0	0	0.004289	0	0
DNAH8	1769	broad.mit.edu	37	6	38810560	38810560	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:38810560C>A	ENST00000359357.3	+	33	4329	c.4075C>A	c.(4075-4077)Cag>Aag	p.Q1359K	DNAH8_ENST00000441566.1_Missense_Mutation_p.Q1359K|DNAH8_ENST00000449981.2_Missense_Mutation_p.Q1576K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGCCATGAAACAGAGACACTG	0.388000													81	23					1.52589e-26	3.23516e-26	0.003610	1	0
SERPINE2	5270	broad.mit.edu	37	2	224862898	224862898	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:224862898C>A	ENST00000409840.3	-	4	1081	c.421G>T	c.(421-423)Gtg>Ttg	p.V141L	SERPINE2_ENST00000447280.2_Missense_Mutation_p.V153L|SERPINE2_ENST00000258405.4_Missense_Mutation_p.V141L|SERPINE2_ENST00000409304.1_Missense_Mutation_p.V141L			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	141					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAAAGTTCACATTCCGGACC	0.453000													8	37					3.09899e-07	4.59729e-07	0.004482	1	0
ST8SIA5	29906	broad.mit.edu	37	18	44260249	44260249	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:44260249G>T	ENST00000315087.7	-	7	1547	c.887C>A	c.(886-888)gCc>gAc	p.A296D	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.A332D|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.A265D|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	296					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GATGCGCTTGGCGCGCACCCC	0.622000													5	20					2.0095e-06	2.87737e-06	0.001984	1	0
HIVEP1	3096	broad.mit.edu	37	6	12163750	12163750	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:12163750C>T	ENST00000379388.2	+	9	7545	c.7213C>T	c.(7213-7215)Cat>Tat	p.H2405Y	HIVEP1_ENST00000541134.1_Missense_Mutation_p.H270Y	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2405					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TGGGGGGATCCATGTGGTACC	0.527000													133	15					0	0	0.003610	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522811	95522811	+	RNA	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:95522811T>C	ENST00000432432.2	-	0	216					NR_040113.1																						GTGGATCTTCTGCAATTCGGA	0.657000													37	21					0	0	0.006230	0	0
APBA2	321	broad.mit.edu	37	15	29386483	29386483	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:29386483G>T	ENST00000558402.1	+	9	1817	c.1218G>T	c.(1216-1218)agG>agT	p.R406S	APBA2_ENST00000411764.1_Intron|APBA2_ENST00000558330.1_Intron|APBA2_ENST00000558259.1_Missense_Mutation_p.R406S|APBA2_ENST00000561069.1_Missense_Mutation_p.R406S			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	406	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCTGTCAGAGGATGCAAAAGG	0.507000													24	81					1.33986e-20	2.67431e-20	0.004656	1	0
HEPH	9843	broad.mit.edu	37	X	65479949	65479949	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:65479949A>G	ENST00000519389.1	+	19	3385	c.3206A>G	c.(3205-3207)gAg>gGg	p.E1069G	HEPH_ENST00000419594.1_Missense_Mutation_p.E826G|HEPH_ENST00000441993.2_Missense_Mutation_p.E1018G|HEPH_ENST00000336279.5_Missense_Mutation_p.E748G|HEPH_ENST00000343002.2_Missense_Mutation_p.E1015G|HEPH_ENST00000374727.3_Missense_Mutation_p.E1018G			Q9BQS7	HEPH_HUMAN	hephaestin	1015	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGAATGGCGAGAACTACCGG	0.488000													6	37					0	0	0.003080	0	0
FDPS	2224	broad.mit.edu	37	1	155287752	155287752	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:155287752G>A	ENST00000356657.6	+	5	663	c.501G>A	c.(499-501)gtG>gtA	p.V167V	RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|FDPS_ENST00000447866.1_Silent_p.V101V|FDPS_ENST00000368356.4_Silent_p.V167V|RUSC1-AS1_ENST00000443642.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	167					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	TCTTCCTGGTGGCAGATGACA	0.493000													7	61					0	0	0.003080	0	0
TAS2R42	353164	broad.mit.edu	37	12	11338969	11338969	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:11338969G>T	ENST00000334266.1	-	1	574	c.575C>A	c.(574-576)cCc>cAc	p.P192H		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	192					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			CAGAGAAAAGGGGATAAAACT	0.348000													32	44					2.85442e-18	5.49739e-18	0.002096	1	0
ZNF536	9745	broad.mit.edu	37	19	31040383	31040383	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:31040383C>G	ENST00000355537.3	+	4	4004	c.3857C>G	c.(3856-3858)aCa>aGa	p.T1286R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAAGTAGCACAGCAAATTCT	0.488000													17	53					0	0	0.004990	0	0
MIR518B	574474	broad.mit.edu	37	19	54206003	54206003	+	RNA	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:54206003C>A	ENST00000385127.1	+	0	13					NR_030196.1																						ATGCTGTGGCCCTCCAGAGGG	0.423000													7	28					1.06961e-07	1.60849e-07	0.003080	1	0
CCL20	6364	broad.mit.edu	37	2	228681074	228681074	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:228681074G>C	ENST00000409189.3	+	3	310	c.240G>C	c.(238-240)tgG>tgC	p.W80C	CCL20_ENST00000358813.4_Missense_Mutation_p.W81C|CCL20_ENST00000473642.1_3'UTR	NM_001130046.1|NM_004591.2	NP_001123518.1|NP_004582.1	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	81					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		AACAGACTTGGGTGAAATATA	0.398000													17	49					0	0	0.008871	0	0
RP1L1	94137	broad.mit.edu	37	8	10467877	10467877	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:10467877T>A	ENST00000382483.3	-	4	3954	c.3731A>T	c.(3730-3732)tAt>tTt	p.Y1244F		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1244					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGGCTCTCATAAGTTCTTGA	0.562000													25	37					0	0	0.003330	0	0
CD5L	922	broad.mit.edu	37	1	157803090	157803090	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:157803090C>A	ENST00000368174.4	-	5	1027	c.931G>T	c.(931-933)Gat>Tat	p.D311Y		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	311	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CGAACATTATCCAGCCAGATG	0.582000													48	58					4.64027e-19	9.04257e-19	0.003610	1	0
AKAP3	10566	broad.mit.edu	37	12	4736204	4736204	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:4736204C>A	ENST00000545990.2	-	5	2388	c.1864G>T	c.(1864-1866)Gtt>Ttt	p.V622F	AKAP3_ENST00000228850.1_Missense_Mutation_p.V622F	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	622					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCTTCCTTAACTGGCTGTTCC	0.502000													46	8					5.20006e-24	1.0659e-23	0.002852	1	0
CHAMP1	283489	broad.mit.edu	37	13	115091622	115091622	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:115091622C>T	ENST00000361283.1	+	3	2614	c.2305C>T	c.(2305-2307)Cgt>Tgt	p.R769C		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	769	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										TAAATGTCCACGTTGTAATTT	0.363000													28	22					0	0	0.004656	0	0
ACAD11	84129	broad.mit.edu	37	3	132360964	132360964	+	Translation_Start_Site	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:132360964C>T	ENST00000545291.1	-	0	703				ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.R130H|ACAD11_ENST00000481970.2_Missense_Mutation_p.R130H|ACAD11_ENST00000264990.6_Missense_Mutation_p.R130H					acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TGTTAAATCACGGAAGATTCG	0.363000													25	79					0	0	0.006320	0	0
GSDMC	56169	broad.mit.edu	37	8	130760847	130760847	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:130760847T>A	ENST00000276708.4	-	14	2308	c.1427A>T	c.(1426-1428)gAg>gTg	p.E476V		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	476						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GTTATCCAGCTCCATCCTAAG	0.577000													12	84					0	0	0.002450	0	0
NLRP10	338322	broad.mit.edu	37	11	7984990	7984990	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:7984990C>A	ENST00000328600.2	-	1	214	c.53G>T	c.(52-54)aGt>aTt	p.S18I		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	18	DAPIN.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCAAGGTCACTCAAGGCCCA	0.572000													18	47					5.3912e-06	7.65303e-06	0.006122	1	0
OR10J5	127385	broad.mit.edu	37	1	159505076	159505076	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:159505076A>T	ENST00000334857.2	-	1	766	c.722T>A	c.(721-723)gTc>gAc	p.V241D		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GAGGTGGGAGACACAGGTGGC	0.488000													29	51					0	0	0.007291	0	0
KCNH2	3757	broad.mit.edu	37	7	150648710	150648710	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:150648710C>G	ENST00000392968.2	-	5	2603	c.1483G>C	c.(1483-1485)Gac>Cac	p.D495H	KCNH2_ENST00000330883.4_Missense_Mutation_p.D251H|KCNH2_ENST00000262186.5_Missense_Mutation_p.D591H|KCNH2_ENST00000430723.3_Missense_Mutation_p.D591H			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	591					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CCTATCTGGTCGCCCAGGTTG	0.612000													73	10					0	0	0.003610	0	0
HAO2	51179	broad.mit.edu	37	1	119927430	119927430	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:119927430C>A	ENST00000361035.4	+	5	637	c.354C>A	c.(352-354)acC>acA	p.T118T	HAO2_ENST00000325945.3_Silent_p.T105T	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	105	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GCTACATCACCAGCACATTTG	0.547000													37	54					3.21399e-22	6.49371e-22	0.004878	1	0
IGLV8-61	28774	broad.mit.edu	37	22	22453406	22453406	+	RNA	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:22453406G>A	ENST00000390283.2	+	0	198																											TTGAGCTCTGGCTCAGTCTCT	0.562000													16	41					0	0	0.006122	0	0
KDM6A	7403	broad.mit.edu	37	X	44966737	44966737	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:44966737G>T	ENST00000377967.4	+	27	4002	c.3961G>T	c.(3961-3963)Ggg>Tgg	p.G1321W	KDM6A_ENST00000382899.4_Missense_Mutation_p.G1328W|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Missense_Mutation_p.G1276W|KDM6A_ENST00000543216.1_Missense_Mutation_p.G1242W	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1321					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TATATGGCATGGGCGGACAAA	0.403000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								44	6					8.01111e-26	1.66983e-25	0.002522	1	0
LILRA2	11027	broad.mit.edu	37	19	55086271	55086271	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:55086271G>A	ENST00000251377.3	+	5	559	c.426G>A	c.(424-426)caG>caA	p.Q142Q	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.Q142Q|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.Q130Q|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Silent_p.Q142Q|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGACCCTCCAGTGTGTCTCAC	0.557000													42	56					0	0	0.008740	0	0
FBN2	2201	broad.mit.edu	37	5	127614379	127614379	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:127614379G>T	ENST00000508053.1	-	63	8267	c.7293C>A	c.(7291-7293)gcC>gcA	p.A2431A	FBN2_ENST00000262464.4_Silent_p.A2431A			P35556	FBN2_HUMAN	fibrillin 2	2431	TB 9.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTTTGTACTGGGCAGTTCCAG	0.458000													45	20					1.63429e-32	3.61225e-32	0.003610	1	0
OTOA	146183	broad.mit.edu	37	16	21716560	21716560	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:21716560T>A	ENST00000388958.3	+	11	1052	c.1051T>A	c.(1051-1053)Tac>Aac	p.Y351N	OTOA_ENST00000286149.4_Missense_Mutation_p.Y365N|OTOA_ENST00000388956.4_Missense_Mutation_p.Y272N|OTOA_ENST00000569064.1_3'UTR|OTOA_ENST00000388957.3_Missense_Mutation_p.Y27N	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	365					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGTCCTGCTTTACCAGATGAT	0.572000													31	50					0	0	0.002096	0	0
RASEF	158158	broad.mit.edu	37	9	85615133	85615133	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:85615133G>A	ENST00000376447.3	-	12	1934	c.1674C>T	c.(1672-1674)ctC>ctT	p.L558L		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	558					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AAAGTCTCATGAGGAAACTAG	0.443000													60	5					0	0	0.003610	0	0
DLC1	10395	broad.mit.edu	37	8	12957737	12957737	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:12957737C>A	ENST00000276297.4	-	9	2518	c.2109G>T	c.(2107-2109)atG>atT	p.M703I	DLC1_ENST00000512044.2_Missense_Mutation_p.M300I|DLC1_ENST00000358919.2_Missense_Mutation_p.M266I|DLC1_ENST00000520226.1_Missense_Mutation_p.M192I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	703					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTCCTCATCCATCCCCTCTT	0.562000													22	32					1.87028e-06	2.69757e-06	0.001882	1	0
UVRAG	7405	broad.mit.edu	37	11	75562951	75562951	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:75562951C>T	ENST00000356136.3	+	2	382	c.141C>T	c.(139-141)aaC>aaT	p.N47N	UVRAG_ENST00000528420.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	47	C2.				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						ATCTTCGGAACATTGCTGCCC	0.373000													35	120					0	0	0.006230	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35916033	35916033	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:35916033C>T	ENST00000325722.3	-	14	2374	c.2140G>A	c.(2140-2142)Ggc>Agc	p.G714S	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.G151S	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	714	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GACTTAGAGCCATCCAGCTCT	0.488000													5	59					0	0	0.000602	0	0
DNAJC22	79962	broad.mit.edu	37	12	49743390	49743390	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:49743390A>G	ENST00000549441.2	+	3	1939	c.735A>G	c.(733-735)ctA>ctG	p.L245L	DNAJC22_ENST00000395069.3_Silent_p.L245L			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	245					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TCTGGAGGCTACTGATGGGGG	0.522000													68	100					0	0	0.003610	0	0
FASLG	356	broad.mit.edu	37	1	172635156	172635156	+	Nonstop_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:172635156A>C	ENST00000367721.2	+	4	1030	c.846A>C	c.(844-846)taA>taC	p.*282Y	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	0					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						ATAAGCTCTAAGAGAAGCACT	0.388000													12	56					0	0	0.001855	0	0
CACNA1C	775	broad.mit.edu	37	12	2602428	2602428	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:2602428C>T	ENST00000399655.1	+	7	1254	c.989C>T	c.(988-990)aCg>aTg	p.T330M	CACNA1C_ENST00000399621.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T330M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T330M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T330M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T330M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T330M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T330M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T330M	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	330					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)	CAGAACGGCACGGTGTGCAAG	0.587000													43	74					0	0	0.002222	0	0
DENND2A	27147	broad.mit.edu	37	7	140269479	140269479	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:140269479C>G	ENST00000275884.6	-	6	1923	c.1506G>C	c.(1504-1506)agG>agC	p.R502S	DENND2A_ENST00000537639.1_Missense_Mutation_p.R502S|DENND2A_ENST00000496613.1_Missense_Mutation_p.R502S|DENND2A_ENST00000492720.1_Missense_Mutation_p.R502S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	502										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					ACTGGGACAGCCTCTTCACCC	0.537000													133	26					0	0	0.003610	0	0
ANK1	286	broad.mit.edu	37	8	41546073	41546073	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:41546073G>T	ENST00000396942.1	-	34	4222	c.4139C>A	c.(4138-4140)aCg>aAg	p.T1380K	ANK1_ENST00000265709.8_Missense_Mutation_p.T1421K|ANK1_ENST00000379758.2_Missense_Mutation_p.T1380K|ANK1_ENST00000396945.1_Missense_Mutation_p.T1380K|ANK1_ENST00000352337.4_Missense_Mutation_p.T1380K|ANK1_ENST00000347528.4_Missense_Mutation_p.T1380K|ANK1_ENST00000289734.7_Missense_Mutation_p.T1380K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1380					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.T1380M(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGCCAGGGGCGTCGGGGTCCT	0.567000													21	45					2.39556e-15	4.35878e-15	0.002780	1	0
KIF2B	84643	broad.mit.edu	37	17	51900476	51900476	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:51900476G>T	ENST00000268919.4	+	1	238	c.82G>T	c.(82-84)Gag>Tag	p.E28*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	28					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGACATCCAAGAGGGCATCTA	0.557000													28	6					4.87955e-14	8.47276e-14	0.005443	1	0
ZNF470	388566	broad.mit.edu	37	19	57085817	57085817	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:57085817T>C	ENST00000330619.8	+	4	801	c.115T>C	c.(115-117)Tgg>Cgg	p.W39R	ZNF470_ENST00000391709.3_Missense_Mutation_p.W39R|ZNF470_ENST00000601902.1_Missense_Mutation_p.W39R	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGAATGGGAGTGGCTGAATCT	0.428000													45	53					0	0	0.002522	0	0
FAM217B	63939	broad.mit.edu	37	20	58519910	58519910	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:58519910G>T	ENST00000358293.3	+	5	1327	c.912G>T	c.(910-912)caG>caT	p.Q304H	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Missense_Mutation_p.Q304H	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	304																	CGAAGCTGCAGCGCTGGGATC	0.483000													25	53					9.86323e-18	1.86683e-17	0.003954	1	0
OR52R1	119695	broad.mit.edu	37	11	4825134	4825134	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:4825134C>A	ENST00000380382.1	-	1	713	c.714G>T	c.(712-714)gtG>gtT	p.V238V	OR52R1_ENST00000356069.2_Silent_p.V159V|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAAGGGGCTCACCCACAGCA	0.562000													49	37					3.21987e-24	6.61379e-24	0.003610	1	0
CYP11B2	1585	broad.mit.edu	37	8	143994079	143994079	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:143994079C>A	ENST00000323110.2	-	8	1267	c.1265G>T	c.(1264-1266)cGg>cTg	p.R422L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	422					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGGATTATACCGCTCAGGCCT	0.622000									Familial Hyperaldosteronism type I				61	50					7.41606e-26	1.56561e-25	0.003610	1	0
NCS1	23413	broad.mit.edu	37	9	132988695	132988695	+	Nonsense_Mutation	SNP	G	G	T	rs11440892		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:132988695G>T	ENST00000372398.3	+	7	588	c.502G>T	c.(502-504)Gag>Tag	p.E168*	NCS1_ENST00000458469.1_Nonsense_Mutation_p.E150*	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	168	EF-hand 4.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						GACCCTGCAGGAGTTCCAGGA	0.647000													12	24					1.3612e-06	1.97484e-06	0.003163	1	0
XKR9	389668	broad.mit.edu	37	8	71593465	71593465	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:71593465T>A	ENST00000408926.3	+	3	706	c.172T>A	c.(172-174)Ttt>Att	p.F58I	XKR9_ENST00000520030.1_Missense_Mutation_p.F58I|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	58						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GGCTCAGTGTTTTAGTTATTC	0.378000													36	657					0	0	0.003755	0	0
MTA1	9112	broad.mit.edu	37	14	105929519	105929519	+	Splice_Site	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:105929519A>G	ENST00000331320.7	+	11	1156		c.e11-1		MTA1_ENST00000406191.1_Splice_Site|MTA1_ENST00000405646.1_Splice_Site	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1						signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CCTCCCACCCAGCTCCCGTGG	0.647000													127	101					0	0	0.003610	0	0
TRPV4	59341	broad.mit.edu	37	12	110230574	110230574	+	Silent	SNP	T	T	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:110230574T>G	ENST00000418703.2	-	10	1801	c.1707A>C	c.(1705-1707)gcA>gcC	p.A569A	TRPV4_ENST00000346520.2_Silent_p.A509A|TRPV4_ENST00000544971.1_Silent_p.A462A|TRPV4_ENST00000541794.1_Silent_p.A522A|TRPV4_ENST00000537083.1_Silent_p.A509A|TRPV4_ENST00000536838.1_Silent_p.A535A|TRPV4_ENST00000261740.2_Silent_p.A569A|TRPV4_ENST00000392719.2_Silent_p.A522A	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	569					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCTCGATCCCTGCCAGGTAGA	0.587000													10	33					0	0	0.006214	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101452430	101452430	+	RNA	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:101452430T>C	ENST00000554693.2	+	0	972				SNORD114-25_ENST00000363742.1_RNA																							TATGAGTCTTTTGCGATGAAT	0.383000													180	30					0	0	0.003610	0	0
AKNAD1	254268	broad.mit.edu	37	1	109385883	109385883	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:109385883C>T	ENST00000370001.3	-	6	1520	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	AKNAD1_ENST00000357393.4_Missense_Mutation_p.E125K|AKNAD1_ENST00000369994.1_Missense_Mutation_p.E418K|AKNAD1_ENST00000369995.3_Missense_Mutation_p.E418K	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	418										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TGCAGTTTCTCCAGGACCTGC	0.493000													31	34					0	0	0.003755	0	0
PRKCI	5584	broad.mit.edu	37	3	169985720	169985720	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:169985720G>T	ENST00000295797.4	+	5	687	c.382G>T	c.(382-384)Ggt>Tgt	p.G128C		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	128	Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTACCGTAGAGGTGCACGCCG	0.363000													27	6					2.61193e-14	4.61644e-14	0.001786	1	0
SLC44A4	80736	broad.mit.edu	37	6	31831479	31831479	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:31831479G>A	ENST00000544672.1	-	21	2126	c.1830C>T	c.(1828-1830)taC>taT	p.Y610Y	SLC44A4_ENST00000375562.4_Silent_p.Y644Y|SLC44A4_ENST00000229729.6_Silent_p.Y686Y	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	686						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TCTTGGACATGTAGTAGGGCC	0.597000													15	2					0	0	0.002450	0	0
GLG1	2734	broad.mit.edu	37	16	74516969	74516969	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:74516969C>G	ENST00000422840.2	-	10	1624	c.1625G>C	c.(1624-1626)tGt>tCt	p.C542S	GLG1_ENST00000447066.2_Missense_Mutation_p.C531S|GLG1_ENST00000205061.5_Missense_Mutation_p.C542S	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	542						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACGGTGTTCACAGTCTTCTAC	0.413000													28	37					0	0	0.003755	0	0
MCM5	4174	broad.mit.edu	37	22	35806852	35806852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:35806852C>T	ENST00000216122.4	+	7	1022	c.868C>T	c.(868-870)Cga>Tga	p.R290*	MCM5_ENST00000382011.5_Nonsense_Mutation_p.R247*	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	290					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CGTGGGCATCCGAAGCTCCTA	0.587000													12	26					0	0	0.000978	0	0
GSTM5	2949	broad.mit.edu	37	1	110256088	110256088	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:110256088G>A	ENST00000369813.1	+	2	942	c.37G>A	c.(37-39)Ggt>Agt	p.G13S	GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000369812.5_Missense_Mutation_p.G73S			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GAGCTTCCCCGGTTTCCCATC	0.582000													27	122					0	0	0.002096	0	0
TMCO3	55002	broad.mit.edu	37	13	114154387	114154387	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:114154387G>A	ENST00000434316.2	+	4	1098	c.739G>A	c.(739-741)Gac>Aac	p.D247N	TMCO3_ENST00000375391.1_Missense_Mutation_p.D247N|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	247						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CATGCTGATTGACTCCCAGAA	0.453000													18	37					0	0	0.004990	0	0
STRA8	346673	broad.mit.edu	37	7	134931195	134931195	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:134931195T>A	ENST00000275764.3	+	6	473	c.473T>A	c.(472-474)aTg>aAg	p.M158K		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	158					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						AAACAGACGATGGACCTTCTG	0.597000													9	4					0	0	0.000978	0	0
VAV3	10451	broad.mit.edu	37	1	108116723	108116723	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:108116723C>T	ENST00000370056.4	-	26	2722	c.2448G>A	c.(2446-2448)aaG>aaA	p.K816K	VAV3_ENST00000544443.1_Silent_p.K220K|VAV3_ENST00000527011.1_Silent_p.K844K|VAV3_ENST00000415432.2_Silent_p.K256K|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	816	SH3 2.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TTGTGTAAATCTTCACCACAT	0.478000													81	143					0	0	0.003610	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810228	106810228	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:106810228A>G	ENST00000526355.1	-	4	1632	c.1164T>C	c.(1162-1164)atT>atC	p.I388I	GUCY1A2_ENST00000282249.2_Silent_p.I388I|GUCY1A2_ENST00000347596.2_Silent_p.I388I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	388					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GCTTGGTTCTAATCACAAACG	0.443000													35	114					0	0	0.003755	0	0
NRAP	4892	broad.mit.edu	37	10	115384620	115384620	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:115384620G>A	ENST00000369358.4	-	22	2582	c.2338C>T	c.(2338-2340)Ctg>Ttg	p.L780L	NRAP_ENST00000359988.3_Silent_p.L772L|NRAP_ENST00000360478.3_Silent_p.L737L|NRAP_ENST00000369360.3_Silent_p.L745L			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	772						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CGGGCCTGCAGGAAGAGAGGC	0.532000													11	96					0	0	0.004990	0	0
SLC5A12	159963	broad.mit.edu	37	11	26725171	26725171	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:26725171A>T	ENST00000396005.3	-	6	1037	c.728T>A	c.(727-729)gTg>gAg	p.V243E	SLC5A12_ENST00000280467.6_Missense_Mutation_p.V243E	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	243					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AGTTCCTCCCACTGTGATAGT	0.408000													33	131					0	0	0.002096	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60237354	60237354	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:60237354G>C	ENST00000269499.5	+	12	2283	c.1865G>C	c.(1864-1866)gGc>gCc	p.G622A	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.G301A	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	622					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TTGGACATTGGCTCTGGACAT	0.313000													5	7					0	0	0.001168	0	0
OR4A16	81327	broad.mit.edu	37	11	55111468	55111468	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55111468C>T	ENST00000314721.2	+	1	842	c.792C>T	c.(790-792)ccC>ccT	p.P264P		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CCAACTTTCCCTTTGATAAAT	0.368000													10	28					0	0	0.008291	0	0
SLC26A7	115111	broad.mit.edu	37	8	92261894	92261894	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:92261894G>A	ENST00000276609.3	+	2	254	c.15G>A	c.(13-15)aaG>aaA	p.K5K	SLC26A7_ENST00000309536.2_Silent_p.K5K|SLC26A7_ENST00000523719.1_Silent_p.K5K	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	5						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAGGAGCAAAGAGGAAAAAGA	0.413000													45	61					0	0	0.003610	0	0
SULF2	55959	broad.mit.edu	37	20	46331302	46331302	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:46331302C>A	ENST00000359930.4	-	4	1379	c.528G>T	c.(526-528)cgG>cgT	p.R176R	SULF2_ENST00000467815.1_Silent_p.R176R|SULF2_ENST00000361612.4_Silent_p.R176R|SULF2_ENST00000484875.1_Silent_p.R176R	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	176					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCACCCCGTTCCGACACAGCG	0.542000													16	32					4.7546e-09	7.43283e-09	0.004007	1	0
CAMK4	814	broad.mit.edu	37	5	110730453	110730453	+	Silent	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:110730453C>G	ENST00000282356.4	+	5	830	c.432C>G	c.(430-432)gcC>gcG	p.A144A	CAMK4_ENST00000512453.1_Silent_p.A144A	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	144	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTGCAGATGCCGTTAAACAAA	0.388000													24	33					0	0	0.002299	0	0
TOP2A	7153	broad.mit.edu	37	17	38555031	38555031	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:38555031A>C	ENST00000423485.1	-	26	3605	c.3447T>G	c.(3445-3447)aaT>aaG	p.N1149K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1149					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TCACTTTTTCATTTCTTAGCC	0.363000													16	63					0	0	0.008871	0	0
KCNK13	56659	broad.mit.edu	37	14	90650517	90650517	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:90650517G>T	ENST00000282146.4	+	2	838	c.397G>T	c.(397-399)Gtt>Ttt	p.V133F		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	133						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTACGGCCTTGTTGGGTGTTC	0.502000													80	23					1.75807e-36	3.93871e-36	0.003610	1	0
B4GALT4	8702	broad.mit.edu	37	3	118937606	118937606	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:118937606C>G	ENST00000467604.1	-	6	1079	c.688G>C	c.(688-690)Gga>Cga	p.G230R	B4GALT4_ENST00000393765.2_Missense_Mutation_p.G230R|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000483209.1_Missense_Mutation_p.G230R|B4GALT4_ENST00000359213.3_Missense_Mutation_p.G230R|B4GALT4_ENST00000460321.1_5'UTR			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	230					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CCAAAATATCCACTGTAACGT	0.473000													6	98					0	0	0.003080	0	0
LILRA6	79168	broad.mit.edu	37	19	54744954	54744954	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:54744954G>T	ENST00000440558.2	-	5	756	c.708C>A	c.(706-708)gcC>gcA	p.A236A	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Silent_p.A236A|LILRA6_ENST00000396365.2_Silent_p.A236A|LILRA6_ENST00000245621.5_Silent_p.A236A|LILRA6_ENST00000270464.5_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6									p.A236A(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTGCCCAGGGGCCAGGACAG	0.642000													7	33					5.4927e-09	8.55961e-09	0.004482	1	0
BMPER	168667	broad.mit.edu	37	7	34182920	34182920	+	Silent	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:34182920C>G	ENST00000297161.2	+	15	2198	c.1824C>G	c.(1822-1824)gcC>gcG	p.A608A	BMPER_ENST00000426693.1_Silent_p.A608A	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	608					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATACCCGGGCCTGCCAGAGAG	0.473000													11	60					0	0	0.008291	0	0
TGFBR3	7049	broad.mit.edu	37	1	92193306	92193306	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:92193306C>T	ENST00000212355.4	-	7	1260	c.795G>A	c.(793-795)gtG>gtA	p.V265V	TGFBR3_ENST00000370399.2_Silent_p.V265V|TGFBR3_ENST00000525962.1_Silent_p.V265V	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	265					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GATTTTTGACCACTTCAAGAT	0.383000													21	46					0	0	0.001523	0	0
HECW1	23072	broad.mit.edu	37	7	43519207	43519207	+	Splice_Site	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:43519207A>G	ENST00000395891.1	+	17	3704		c.e17-1		HECW1_ENST00000453890.1_Splice_Site	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GTCTGTTCGCAGTCTTTTTTC	0.493000													48	20					0	0	0.003610	0	0
PREX1	57580	broad.mit.edu	37	20	47307504	47307504	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:47307504G>T	ENST00000396220.1	-	9	1189	c.1167C>A	c.(1165-1167)cgC>cgA	p.R389R	PREX1_ENST00000371941.3_Silent_p.R389R			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	389	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCTCCCGCTCGCGGATGATGG	0.592000													40	47					2.51966e-14	4.46133e-14	0.003610	1	0
CADM2	253559	broad.mit.edu	37	3	85961612	85961612	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:85961612G>T	ENST00000383699.3	+	6	1246	c.619G>T	c.(619-621)Gga>Tga	p.G207*	CADM2_ENST00000407528.2_Nonsense_Mutation_p.G198*|CADM2_ENST00000405615.2_Nonsense_Mutation_p.G200*	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	198	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GAGTGATGATGGAGTGGCGGT	0.453000													20	7					1.87028e-06	2.69757e-06	0.001882	1	0
MED12L	116931	broad.mit.edu	37	3	150840728	150840728	+	Silent	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:150840728A>T	ENST00000474524.1	+	3	401	c.363A>T	c.(361-363)gcA>gcT	p.A121A	MED12L_ENST00000422248.2_Silent_p.A121A|MED12L_ENST00000309237.4_Silent_p.A121A|MED12L_ENST00000273432.4_Silent_p.A121A	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	121					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGACTTAGCAGGAAATAAGC	0.343000													27	9					0	0	0.008361	0	0
CACNA1C	775	broad.mit.edu	37	12	2613653	2613653	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:2613653G>T	ENST00000399634.1	+	8	1165	c.1165G>T	c.(1165-1167)Gtc>Ttc	p.V389F	CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399641.1_Missense_Mutation_p.V389F|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V389F|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V389F|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V389F|CACNA1C_ENST00000399637.1_Intron	NM_001167625.1	NP_001161097.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	389					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)	TGTCAGTCTGGTCATCTTTGG	0.473000													76	23					8.67779e-30	1.88019e-29	0.003610	1	0
TTN	7273	broad.mit.edu	37	2	179463659	179463659	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179463659G>T	ENST00000589042.1	-	291	57002	c.56778C>A	c.(56776-56778)acC>acA	p.T18926T	TTN_ENST00000342992.6_Silent_p.T16358T|TTN_ENST00000460472.2_Silent_p.T9861T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.T9986T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.T17285T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.T10053T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17285							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTGAAGTGGTGTCTTTCA	0.453000													10	37					2.27111e-07	3.3793e-07	0.001368	1	0
CSPG4	1464	broad.mit.edu	37	15	75979682	75979682	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:75979682C>G	ENST00000308508.5	-	3	3816	c.3724G>C	c.(3724-3726)Gtc>Ctc	p.V1242L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1242	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TTGTGCCGGACCAGCTTCAGT	0.617000													18	32					0	0	0.008871	0	0
MTTP	4547	broad.mit.edu	37	4	100521876	100521876	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:100521876C>T	ENST00000457717.1	+	10	1478	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L	MTTP_ENST00000511045.1_Silent_p.L435L|MTTP_ENST00000265517.5_Silent_p.L408L|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	408	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TGAAGAACTCCTGAGAGCCCT	0.358000													20	30					0	0	0.001523	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994077	140994077	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:140994077A>T	ENST00000285879.4	+	4	1173	c.887A>T	c.(886-888)gAg>gTg	p.E296V	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	296							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTACTTTTGAGGGTTTTCCC	0.498000										HNSCC(15;0.026)			26	30					0	0	0.008361	0	0
CCR3	1232	broad.mit.edu	37	3	46307665	46307665	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:46307665C>G	ENST00000357422.2	+	4	1559	c.1016C>G	c.(1015-1017)aCc>aGc	p.T339S	CCR3_ENST00000395940.2_Missense_Mutation_p.T339S|CCR3_ENST00000395942.2_Missense_Mutation_p.T339S|CCR3_ENST00000545097.1_Missense_Mutation_p.T360S|CCR3_ENST00000541018.1_Missense_Mutation_p.T339S			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	339					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CTGGAAAGAACCAGCTCTGTC	0.507000													11	14					0	0	0.008291	0	0
ZNF292	23036	broad.mit.edu	37	6	87970160	87970160	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:87970160G>T	ENST00000369577.3	+	8	6856	c.6813G>T	c.(6811-6813)tcG>tcT	p.S2271S	ZNF292_ENST00000339907.4_Silent_p.S2266S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAACCCGGTCGAATCTCCTCC	0.418000													14	27					6.72482e-11	1.0982e-10	0.003163	1	0
MROH2B	133558	broad.mit.edu	37	5	41018863	41018863	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:41018863G>T	ENST00000399564.4	-	26	3053	c.2603C>A	c.(2602-2604)gCc>gAc	p.A868D	MROH2B_ENST00000506092.2_Missense_Mutation_p.A423D	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTTTCCTAGGGCGTCCATGGA	0.453000													19	89					1.33834e-09	2.12585e-09	0.007413	1	0
TACR3	6870	broad.mit.edu	37	4	104512726	104512726	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:104512726G>T	ENST00000304883.2	-	4	1143	c.1003C>A	c.(1003-1005)Cag>Aag	p.Q335K	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	335						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TAGACCTGCTGGATGTATTTC	0.393000													40	19					8.01111e-26	1.66983e-25	0.002522	1	0
TRPC5	7224	broad.mit.edu	37	X	111090519	111090519	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:111090519A>G	ENST00000262839.2	-	6	2441	c.1523T>C	c.(1522-1524)aTc>aCc	p.I508T		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	508					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCCAAAGAGATCTGCAGAGG	0.448000													37	7					0	0	0.006230	0	0
SLC5A7	60482	broad.mit.edu	37	2	108618393	108618393	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:108618393C>T	ENST00000264047.2	+	6	914	c.638C>T	c.(637-639)gCa>gTa	p.A213V	SLC5A7_ENST00000409059.1_Missense_Mutation_p.A213V|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A108V	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	213					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CCTGCAGTCGCAGACATCGGG	0.488000													21	69					0	0	0.003330	0	0
FADS3	3995	broad.mit.edu	37	11	61646289	61646289	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:61646289C>A	ENST00000540820.1	-	4	625	c.553G>T	c.(553-555)Ggc>Tgc	p.G185C	FADS3_ENST00000525588.1_Missense_Mutation_p.G157C|FADS3_ENST00000278829.2_Missense_Mutation_p.G185C|FADS3_ENST00000527697.1_Missense_Mutation_p.G61C			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	185					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGCATGGCCCAGGTCATGC	0.632000													21	28					0.000295444	0.000396601	0.002299	1	0
NPHS1	4868	broad.mit.edu	37	19	36334447	36334447	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:36334447C>A	ENST00000378910.5	-	17	2260	c.2261G>T	c.(2260-2262)gGg>gTg	p.G754V	NPHS1_ENST00000353632.6_Missense_Mutation_p.G754V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	754	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACAGAACCCCCGACGTTCAC	0.592000													26	37					4.02929e-09	6.33907e-09	0.002096	1	0
HMMR	3161	broad.mit.edu	37	5	162917455	162917455	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:162917455A>G	ENST00000416990.2	+	17	2174	c.1677A>G	c.(1675-1677)caA>caG	p.Q559Q	HMMR_ENST00000393915.4_Silent_p.Q674Q|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000358715.3_Silent_p.Q673Q|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Silent_p.Q658Q|HMMR_ENST00000432118.2_Silent_p.Q587Q			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	673						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		CAAAACTTCAAGAGGAATTGA	0.313000													4	105					0	0	0.000602	0	0
TECRL	253017	broad.mit.edu	37	4	65165692	65165692	+	Splice_Site	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:65165692C>A	ENST00000381210.3	-	8	884	c.774_splice	c.e8+1	p.L258_splice	TECRL_ENST00000507440.1_Splice_Site_p.L258_splice|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	258					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TGATACATACCAGAAAATTGA	0.299000													37	51					8.16277e-20	1.60654e-19	0.006999	1	0
PAK7	57144	broad.mit.edu	37	20	9561076	9561076	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:9561076G>A	ENST00000378429.3	-	5	1252	c.706C>T	c.(706-708)Cct>Tct	p.P236S	PAK7_ENST00000353224.5_Missense_Mutation_p.P236S|PAK7_ENST00000378423.1_Missense_Mutation_p.P236S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	236	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTTCTAGAAGGTGTGAATTGG	0.517000													31	66					0	0	0.001786	0	0
MRPL19	9801	broad.mit.edu	37	2	75881930	75881930	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:75881930C>T	ENST00000393909.2	+	5	569	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	MRPL19_ENST00000409374.1_Missense_Mutation_p.R182W|MRPL19_ENST00000358788.6_Intron	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	182					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						ATTAGAGAAACGGCTGGATGA	0.388000													17	66					0	0	0.007413	0	0
ALKBH1	8846	broad.mit.edu	37	14	78140172	78140172	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:78140172T>A	ENST00000216489.3	-	6	1168	c.1153A>T	c.(1153-1155)Ata>Tta	p.I385L		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	385					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCAGGGTTTATCCTGGCCCGT	0.453000													37	24					0	0	0.005524	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993867	140993867	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:140993867A>T	ENST00000285879.4	+	4	963	c.677A>T	c.(676-678)gAg>gTg	p.E226V	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	226							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTACTTTTGAGGGTTTTGCC	0.493000										HNSCC(15;0.026)			40	50					0	0	0.008740	0	0
MAP3K5	4217	broad.mit.edu	37	6	136934306	136934306	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:136934306T>A	ENST00000359015.4	-	17	2727	c.2367A>T	c.(2365-2367)gaA>gaT	p.E789D	MAP3K5_ENST00000355845.4_Missense_Mutation_p.E36D	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	789	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATTTTAATCCTTCCAGTATTT	0.383000													19	25					0	0	0.008871	0	0
NOX3	50508	broad.mit.edu	37	6	155743903	155743903	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:155743903G>T	ENST00000159060.2	-	10	1335	c.1233C>A	c.(1231-1233)gtC>gtA	p.V411V		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	411							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGAAGGGAGTGACTCCGATCC	0.522000													20	73					6.33239e-15	1.13546e-14	0.001523	1	0
DPYD	1806	broad.mit.edu	37	1	97700500	97700500	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:97700500C>A	ENST00000370192.3	-	19	2450	c.2350G>T	c.(2350-2352)Gct>Tct	p.A784S	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	784					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CCAGGCAGAGCACGAGCAATG	0.463000													18	15					0.000566183	0.000752879	0.004990	1	0
MAP1S	55201	broad.mit.edu	37	19	17837847	17837847	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:17837847A>T	ENST00000324096.4	+	5	1805	c.1654A>T	c.(1654-1656)Aag>Tag	p.K552*	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Nonsense_Mutation_p.K526*	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	552	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCCCAACCTCAAGAAGACGAA	0.682000													11	2					0	0	0.001368	0	0
JPH1	56704	broad.mit.edu	37	8	75227360	75227360	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:75227360C>A	ENST00000342232.4	-	2	915	c.875G>T	c.(874-876)gGc>gTc	p.G292V		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	292					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AACGCCGAAGCCGTTGCGCTT	0.547000													105	108					5.74361e-68	1.33837e-67	0.003610	1	0
TRPC4	7223	broad.mit.edu	37	13	38213192	38213192	+	Silent	SNP	G	G	T	rs116527482	by1000genomes	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:38213192G>T	ENST00000379705.3	-	10	3053	c.2196C>A	c.(2194-2196)acC>acA	p.T732T	TRPC4_ENST00000379679.1_Silent_p.T559T|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000358477.2_Silent_p.T732T|TRPC4_ENST00000379673.2_Silent_p.T667T|TRPC4_ENST00000379681.3_Silent_p.T737T|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Silent_p.T559T			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	732	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.T732T(1)|p.T737T(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGTTCTCTTCGGTCAGGCCTT	0.398000													100	33					3.52173e-36	7.85432e-36	0.003610	1	0
GYS2	2998	broad.mit.edu	37	12	21695501	21695501	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:21695501G>T	ENST00000261195.2	-	13	1828	c.1574C>A	c.(1573-1575)cCc>cAc	p.P525H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	525					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGTCACACTGGGGATACCCAT	0.517000													30	44					4.22769e-11	6.93848e-11	0.006320	1	0
COL3A1	1281	broad.mit.edu	37	2	189862437	189862437	+	Silent	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:189862437T>A	ENST00000304636.3	+	27	2051	c.1881T>A	c.(1879-1881)ggT>ggA	p.G627G	COL3A1_ENST00000317840.5_Silent_p.G627G	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	627	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCCTGGTGGTGACAAAGGAG	0.383000													105	39					0	0	0.003610	0	0
KCNAB1	7881	broad.mit.edu	37	3	156009858	156009858	+	Silent	SNP	G	G	T	rs138625130		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:156009858G>T	ENST00000302490.8	+	1	1033	c.162G>T	c.(160-162)acG>acT	p.T54T	KCNAB1_ENST00000389634.5_Silent_p.T54T|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000490337.1_Intron	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	72						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.T54T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGACGTTCACGCCTCAGCATC	0.567000													62	8					2.02627e-32	4.46865e-32	0.003610	1	0
ABCA4	24	broad.mit.edu	37	1	94506797	94506797	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:94506797T>C	ENST00000370225.3	-	23	3576	c.3490A>G	c.(3490-3492)Aaa>Gaa	p.K1164E		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1164					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGGATGTTTTTCATCTTGCGC	0.567000													14	56					0	0	0.002450	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531667	84531667	+	RNA	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:84531667C>A	ENST00000527857.1	+	0	1689					NR_026851.1																						AGTACTTCCCCCTCCCCAGAC	0.517000													46	11					1.23103e-26	2.6156e-26	0.003214	1	0
CR2	1380	broad.mit.edu	37	1	207640047	207640047	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:207640047G>T	ENST00000367057.3	+	2	424	c.235G>T	c.(235-237)Gct>Tct	p.A79S	CR2_ENST00000367058.3_Missense_Mutation_p.A79S|CR2_ENST00000367059.3_Missense_Mutation_p.A79S|CR2_ENST00000458541.2_Missense_Mutation_p.A79S	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	79	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGATAAACCTGCTCCTAAATG	0.408000													38	61					6.97489e-18	1.32268e-17	0.004878	1	0
PIEZO2	63895	broad.mit.edu	37	18	10672706	10672706	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:10672706C>A	ENST00000302079.6	-	50	7797	c.7798G>T	c.(7798-7800)Ggg>Tgg	p.G2600W	PIEZO2_ENST00000285141.4_Missense_Mutation_p.G455W|PIEZO2_ENST00000503781.3_Missense_Mutation_p.G2663W|PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2688W|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000538948.1_Missense_Mutation_p.G620W			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2663						integral to membrane	ion channel activity	p.G2663R(1)|p.G455R(1)									GCCAGGAACCCCAGACTTGGG	0.463000													34	118					9.04072e-19	1.75486e-18	0.003271	1	0
MRPS22	56945	broad.mit.edu	37	3	139065733	139065733	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:139065733C>G	ENST00000495075.1	+	4	618	c.186C>G	c.(184-186)agC>agG	p.S62R	MRPS22_ENST00000478464.1_Missense_Mutation_p.S21R|MRPS22_ENST00000310776.4_Missense_Mutation_p.S62R|MRPS22_ENST00000465056.1_Missense_Mutation_p.S61R			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	62						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						AATCTGGTAGCCCAGAGACCA	0.363000													103	8					0	0	0.003610	0	0
OR2W3	343171	broad.mit.edu	37	1	248059669	248059669	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:248059669C>A	ENST00000537741.1	+	3	1038	c.781C>A	c.(781-783)Cag>Aag	p.Q261K	OR2W3_ENST00000360358.3_Missense_Mutation_p.Q261K			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CATGTACATGCAGCCAGGAGC	0.522000													27	71					4.7796e-09	7.46011e-09	0.004656	1	0
MCF2L	23263	broad.mit.edu	37	13	113728758	113728758	+	Splice_Site	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:113728758G>A	ENST00000397030.1	+	10	1133	c.1095_splice	c.e10-1	p.V366_splice	MCF2L_ENST00000375604.2_Splice_Site_p.V390_splice|MCF2L_ENST00000434480.2_Splice_Site_p.V339_splice|MCF2L_ENST00000421756.1_Splice_Site_p.V337_splice|MCF2L_ENST00000442652.2_Splice_Site_p.V363_splice|MCF2L_ENST00000375608.3_Splice_Site_p.V363_splice|MCF2L_ENST00000375601.3_Splice_Site_p.V337_splice|MCF2L_ENST00000535094.2_Splice_Site_p.V333_splice|MCF2L_ENST00000375597.4_Splice_Site_p.V331_splice|MCF2L_ENST00000423482.2_Splice_Site_p.V331_splice			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	363					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCTGTTCCAGGTCAAAGCCAT	0.572000													8	41					0	0	0.004482	0	0
CUBN	8029	broad.mit.edu	37	10	16930475	16930475	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:16930475A>T	ENST00000377833.4	-	56	8911	c.8846T>A	c.(8845-8847)gTc>gAc	p.V2949D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2949	CUB 22.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCCTCTATGACATAGGTGCA	0.363000													12	43					0	0	0.000978	0	0
CIB3	117286	broad.mit.edu	37	19	16280476	16280476	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:16280476G>T	ENST00000269878.4	-	3	212	c.163C>A	c.(163-165)Ccc>Acc	p.P55T	CIB3_ENST00000379859.3_Intron|CIB3_ENST00000541493.1_Intron	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	55							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						AGCTCGTAGGGCACCTTCACA	0.557000													10	4					5.50884e-06	7.79761e-06	0.001368	1	0
CD109	135228	broad.mit.edu	37	6	74497058	74497058	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:74497058G>T	ENST00000437994.2	+	21	2870	c.2439G>T	c.(2437-2439)gaG>gaT	p.E813D	CD109_ENST00000287097.5_Missense_Mutation_p.E813D|CD109_ENST00000422508.2_Missense_Mutation_p.E736D	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	813						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCCCAGTGAGGATGGGGCAA	0.443000													30	37					4.31634e-10	6.9682e-10	0.002445	1	0
OR5AR1	219493	broad.mit.edu	37	11	56431458	56431458	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:56431458C>A	ENST00000302969.2	+	1	321	c.297C>A	c.(295-297)acC>acA	p.T99T		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GCTGTGCCACCCAGTTTGCTT	0.502000													79	101					1.03218e-28	2.22178e-28	0.003610	1	0
ZDBF2	57683	broad.mit.edu	37	2	207171188	207171188	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:207171188A>G	ENST00000374423.3	+	5	2322	c.1936A>G	c.(1936-1938)Ata>Gta	p.I646V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	646							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGTTGAAAAGATAAATCTTCT	0.423000													17	112					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179592015	179592015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179592015C>A	ENST00000589042.1	-	69	20301	c.20077G>T	c.(20077-20079)Gga>Tga	p.G6693*	TTN_ENST00000342992.6_Nonsense_Mutation_p.G5449*|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.G6376*|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6376	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGGGATCCAGCTATCTTG	0.418000													33	13					1.04352e-10	1.69851e-10	0.003755	1	0
GGH	8836	broad.mit.edu	37	8	63951236	63951236	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:63951236G>A	ENST00000260118.6	-	1	494	c.92C>T	c.(91-93)gCc>gTc	p.A31V		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	31	Gamma-glutamyl hydrolase.		A -> T (in dbSNP:rs11545077).		glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	GGGCTTCTTGGCGGTGTCGCC	0.726000													7	13					0	0	0.006214	0	0
OR6T1	219874	broad.mit.edu	37	11	123813927	123813927	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:123813927A>C	ENST00000321252.2	-	1	653	c.619T>G	c.(619-621)Tta>Gta	p.L207V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAGCCCAGTAACACCAACGTA	0.532000													13	33					0	0	0.001368	0	0
RBM45	129831	broad.mit.edu	37	2	178990865	178990865	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:178990865C>T	ENST00000286070.5	+	9	1479	c.1387C>T	c.(1387-1389)Cca>Tca	p.P463S	RBM45_ENST00000464647.1_Intron	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	465	RRM 3.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GGCAGATTCGCCAAGAGAAGA	0.373000													14	53					0	0	0.004007	0	0
ATAD2B	54454	broad.mit.edu	37	2	24005766	24005766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:24005766C>A	ENST00000238789.5	-	22	3449	c.3106G>T	c.(3106-3108)Gag>Tag	p.E1036*	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1036	Bromo.						ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGATTATACTCTAAAGCATTG	0.358000													34	23					2.6416e-12	4.42356e-12	0.006230	1	0
GABRR3	200959	broad.mit.edu	37	3	97744491	97744491	+	RNA	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:97744491C>G	ENST00000472788.1	-	0	159					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						CGCTTTGGTACTGTCATCTTT	0.388000													16	8					0	0	0.004007	0	0
PTPN11	5781	broad.mit.edu	37	12	112915664	112915664	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:112915664G>T	ENST00000351677.2	+	9	1135	c.937G>T	c.(937-939)Gaa>Taa	p.E313*	PTPN11_ENST00000392597.1_Nonsense_Mutation_p.E313*	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	313	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TTTCTAGCCTGAATTTGAAAC	0.378000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				18	23					3.99206e-14	7.0056e-14	0.007413	1	0
YAE1D1	57002	broad.mit.edu	37	7	39611874	39611874	+	Splice_Site	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:39611874A>G	ENST00000223273.2	+	3	294		c.e3-1		YAE1D1_ENST00000448268.1_Intron|YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	CG036_HUMAN	Yae1 domain containing 1																		ACTTTTGTTCAGTGCTTTGCT	0.308000													4	19					0	0	0.000248	0	0
DFNB31	25861	broad.mit.edu	37	9	117240967	117240967	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:117240967T>A	ENST00000362057.3	-	2	871	c.703A>T	c.(703-705)Acc>Tcc	p.T235S	DFNB31_ENST00000265134.6_5'UTR|DFNB31_ENST00000374057.3_Missense_Mutation_p.T235S	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	235					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCACCCAGGTGTAGATGTGG	0.667000													16	2					0	0	0.004007	0	0
SORBS1	10580	broad.mit.edu	37	10	97078119	97078119	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:97078119T>C	ENST00000371247.2	-	32	3958	c.3769A>G	c.(3769-3771)Atc>Gtc	p.I1257V	SORBS1_ENST00000371246.2_Missense_Mutation_p.I1116V|SORBS1_ENST00000371241.1_Missense_Mutation_p.I649V|SORBS1_ENST00000353505.5_Missense_Mutation_p.I870V|SORBS1_ENST00000607232.1_Missense_Mutation_p.I1259V|SORBS1_ENST00000347291.4_Missense_Mutation_p.I811V|SORBS1_ENST00000306402.6_Missense_Mutation_p.I746V|SORBS1_ENST00000393949.1_Missense_Mutation_p.I969V|SORBS1_ENST00000371239.1_Missense_Mutation_p.I776V|SORBS1_ENST00000371245.3_Missense_Mutation_p.I870V|SORBS1_ENST00000371249.2_Missense_Mutation_p.I781V|SORBS1_ENST00000371227.4_Missense_Mutation_p.I1231V|SORBS1_ENST00000361941.3_Missense_Mutation_p.I1257V|SORBS1_ENST00000277982.5_Missense_Mutation_p.I1116V|SORBS1_ENST00000354106.3_Missense_Mutation_p.I969V			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1257	SH3 3.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ACATCAACGATATCTCCATCG	0.368000													22	72					0	0	0.003954	0	0
RYR1	6261	broad.mit.edu	37	19	39062816	39062816	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:39062816A>T	ENST00000355481.4	+	94	14020	c.13889A>T	c.(13888-13890)gAa>gTa	p.E4630V	RYR1_ENST00000359596.3_Missense_Mutation_p.E4635V|RYR1_ENST00000360985.3_Missense_Mutation_p.E4630V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4635					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTCCTGGAGGAAAGCACAGGC	0.587000													25	48					0	0	0.005443	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4047778	4047778	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:4047778T>A	ENST00000322357.4	-	3	2005	c.1727A>T	c.(1726-1728)gAc>gTc	p.D576V	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.D576V	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	576					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGTTACCGTCGGTGGCGGC	0.602000													11	22					0	0	0.000978	0	0
INPP5J	27124	broad.mit.edu	37	22	31529925	31529925	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:31529925C>A	ENST00000331075.5	+	13	2590	c.2541C>A	c.(2539-2541)gcC>gcA	p.A847A	INPP5J_ENST00000400294.2_Silent_p.A480A|INPP5J_ENST00000412277.2_Silent_p.A780A|INPP5J_ENST00000401755.1_Silent_p.A212A|INPP5J_ENST00000402238.1_Silent_p.A186A|INPP5J_ENST00000405300.1_Silent_p.A480A|INPP5J_ENST00000404453.1_Silent_p.A212A|INPP5J_ENST00000404390.3_Silent_p.A479A			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	847	Ser-rich.					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CGGAGTTGGCCAGCAGCAGCA	0.647000													15	19					3.32936e-07	4.93164e-07	0.006122	1	0
ALX4	60529	broad.mit.edu	37	11	44289130	44289130	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:44289130G>T	ENST00000329255.3	-	3	923	c.820C>A	c.(820-822)Cgt>Agt	p.R274S		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	274					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						TGCCCAAAACGCTCCCGCTTC	0.597000													49	31					6.4308e-24	1.31003e-23	0.003610	1	0
HECW1	23072	broad.mit.edu	37	7	43548674	43548674	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:43548674G>A	ENST00000395891.1	+	24	4578	c.3973G>A	c.(3973-3975)Gtg>Atg	p.V1325M	AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Missense_Mutation_p.V1291M	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1325	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TACTTACACGGTGCAGATCAG	0.448000													59	11					0	0	0.003610	0	0
FBLN2	2199	broad.mit.edu	37	3	13612322	13612322	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:13612322C>T	ENST00000404922.3	+	2	586	c.467C>T	c.(466-468)cCc>cTc	p.P156L	FBLN2_ENST00000295760.7_Missense_Mutation_p.P156L|FBLN2_ENST00000492059.1_Missense_Mutation_p.P156L|FBLN2_ENST00000535798.1_Missense_Mutation_p.P182L	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	156	N.|Subdomain NA (Cys-rich).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CACCTGCCGCCCTGCCGGGCC	0.687000													7	2					0	0	0.004482	0	0
KRT1	3848	broad.mit.edu	37	12	53070126	53070126	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:53070126T>G	ENST00000252244.3	-	7	1466	c.1408A>C	c.(1408-1410)Aac>Cac	p.N470H		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	470	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						AGCTTTGTGTTCATCAGCTCC	0.592000													10	52					0	0	0.006214	0	0
DPF2	5977	broad.mit.edu	37	11	65111510	65111510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:65111510G>T	ENST00000528416.1	+	6	740	c.607G>T	c.(607-609)Gag>Tag	p.E203*	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Nonsense_Mutation_p.E203*|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	203					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TTCCATCCTGGAGGACCGGGA	0.567000													27	35					2.44723e-14	4.34087e-14	0.004656	1	0
XKR6	286046	broad.mit.edu	37	8	10755777	10755777	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:10755777C>A	ENST00000416569.2	-	3	1637	c.1611G>T	c.(1609-1611)cgG>cgT	p.R537R	XKR6_ENST00000304437.2_Silent_p.R258R	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	537						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCTGGGTCCCCCGGTACCCAG	0.617000													11	15					0.000978159	0.00129028	0.000978	1	0
MYBL2	4605	broad.mit.edu	37	20	42331433	42331433	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:42331433G>T	ENST00000217026.4	+	8	1382	c.1255G>T	c.(1255-1257)Gct>Tct	p.A419S	MYBL2_ENST00000396863.4_Missense_Mutation_p.A395S	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	419						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GAGGCGTGTGGCTCTGTCCCC	0.612000													36	37					4.34311e-12	7.24829e-12	0.003271	1	0
ESRRG	2104	broad.mit.edu	37	1	216741352	216741352	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:216741352C>A	ENST00000391890.3	-	6	1126	c.609G>T	c.(607-609)ctG>ctT	p.L203L	ESRRG_ENST00000366938.2_Silent_p.L203L|ESRRG_ENST00000493748.1_Silent_p.L203L|ESRRG_ENST00000366940.2_Silent_p.L203L|ESRRG_ENST00000408911.3_Silent_p.L226L|ESRRG_ENST00000361525.3_Silent_p.L203L|ESRRG_ENST00000360012.3_Silent_p.L203L|ESRRG_ENST00000487276.1_Silent_p.L203L|ESRRG_ENST00000361395.2_Silent_p.L203L|ESRRG_ENST00000359162.2_Silent_p.L203L|ESRRG_ENST00000493603.1_Silent_p.L203L|ESRRG_ENST00000366937.1_Silent_p.L231L|ESRRG_ENST00000463665.1_Silent_p.L164L	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	226					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTGGCTGAACCAGCTGAGGGT	0.527000													18	77					9.16793e-09	1.41089e-08	0.004990	1	0
MEFV	4210	broad.mit.edu	37	16	3304279	3304279	+	Silent	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:3304279T>A	ENST00000219596.1	-	2	828	c.789A>T	c.(787-789)ctA>ctT	p.L263L	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	263					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TCTTTTCCTCTAGAGTCAGGA	0.572000													39	68					0	0	0.007835	0	0
OTOGL	283310	broad.mit.edu	37	12	80747218	80747218	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:80747218G>A	ENST00000458043.2	+	45	5500	c.5494G>A	c.(5494-5496)Gac>Aac	p.D1832N	OTOGL_ENST00000547103.1_Missense_Mutation_p.D1820N	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCTAAGAGAAGACTGTGTGTG	0.443000													5	11					0	0	0.000602	0	0
DNAH9	1770	broad.mit.edu	37	17	11772571	11772571	+	Splice_Site	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:11772571G>C	ENST00000262442.3	+	51	10121		c.e51+1		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						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)		CAACCGCCTGGTGAGTGTAAG	0.512000													25	19					0	0	0.004656	0	0
NLRP8	126205	broad.mit.edu	37	19	56467457	56467457	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:56467457C>A	ENST00000291971.3	+	3	2104	c.2033C>A	c.(2032-2034)cCt>cAt	p.P678H	NLRP8_ENST00000590542.1_Missense_Mutation_p.P678H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	678						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGCTCCCATCCTGGCTCTGAG	0.552000													16	27					3.45872e-05	4.78601e-05	0.004007	1	0
GRIA4	2893	broad.mit.edu	37	11	105789637	105789637	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:105789637T>A	ENST00000393127.2	+	11	1915	c.1469T>A	c.(1468-1470)gTt>gAt	p.V490D	GRIA4_ENST00000530497.1_Missense_Mutation_p.V490D|GRIA4_ENST00000525187.1_Missense_Mutation_p.V490D|GRIA4_ENST00000282499.5_Missense_Mutation_p.V490D	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	490					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGAGAACTTGTTTATGGGGTA	0.353000													11	65					0	0	0.000978	0	0
CUX2	23316	broad.mit.edu	37	12	111748231	111748231	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:111748231G>T	ENST00000261726.6	+	15	1799	c.1645G>T	c.(1645-1647)Gag>Tag	p.E549*		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	549						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCGGGGCAGAGGAGGAGCA	0.711000													8	8					7.48243e-07	1.09521e-06	0.006214	1	0
CC2D1B	200014	broad.mit.edu	37	1	52823548	52823548	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:52823548G>C	ENST00000371586.2	-	14	1640	c.1502C>G	c.(1501-1503)cCa>cGa	p.P501R	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.P495R|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	501										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTTGGCCACTGGGGCCTGTGC	0.627000													27	6					0	0	0.007291	0	0
UEVLD	55293	broad.mit.edu	37	11	18587914	18587914	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:18587914T>C	ENST00000396197.3	-	5	501	c.473A>G	c.(472-474)tAt>tGt	p.Y158C	UEVLD_ENST00000320750.6_Missense_Mutation_p.Y136C|UEVLD_ENST00000535484.1_Missense_Mutation_p.Y120C|UEVLD_ENST00000543987.1_Missense_Mutation_p.Y158C|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000300038.7_Missense_Mutation_p.Y158C|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000379387.4_Missense_Mutation_p.Y136C	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	158					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TTTTGCAATATAGGCTAGCAA	0.378000													45	22					0	0	0.002522	0	0
CARD6	84674	broad.mit.edu	37	5	40853641	40853641	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:40853641C>G	ENST00000254691.5	+	3	2406	c.2207C>G	c.(2206-2208)aCc>aGc	p.T736S	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	736					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTCTTTCCAACCAGAATTGGA	0.502000													181	199					0	0	0.003610	0	0
CAND1	55832	broad.mit.edu	37	12	67688923	67688923	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:67688923G>A	ENST00000545606.1	+	4	915	c.478G>A	c.(478-480)Gat>Aat	p.D160N		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	160					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)		TATTATGGCTGATATGTTGAG	0.343000													7	55					0	0	0.001984	0	0
CHAT	1103	broad.mit.edu	37	10	50835818	50835818	+	Silent	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:50835818G>C	ENST00000395562.2	+	8	1321	c.852G>C	c.(850-852)acG>acC	p.T284T	CHAT_ENST00000351556.3_Silent_p.T248T|CHAT_ENST00000395559.2_Silent_p.T248T|CHAT_ENST00000337653.2_Silent_p.T366T|CHAT_ENST00000455728.2_Silent_p.T248T|CHAT_ENST00000339797.1_Silent_p.T248T	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	366					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AGGCCAGGACGGTCCTCGTGA	0.602000													15	30					0	0	0.003163	0	0
CHST4	10164	broad.mit.edu	37	16	71571596	71571596	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:71571596C>A	ENST00000338482.5	+	3	1359	c.1016C>A	c.(1015-1017)cCc>cAc	p.P339H	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.P339H|CHST4_ENST00000572450.1_Missense_Mutation_p.P339H|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	339					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGGTCTTTGCCCTATGAAAAG	0.527000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	20					1.76689e-08	2.68982e-08	0.006214	1	0
SYT9	143425	broad.mit.edu	37	11	7441858	7441858	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:7441858C>A	ENST00000318881.6	+	6	1696	c.1459C>A	c.(1459-1461)Ctg>Atg	p.L487M		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	487						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTGGCATTCCCTGGTGGAGGT	0.507000													33	28					7.63505e-26	1.60498e-25	0.002445	1	0
BAI3	577	broad.mit.edu	37	6	69349118	69349118	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:69349118G>C	ENST00000370598.1	+	3	1372	c.551G>C	c.(550-552)gGg>gCg	p.G184A		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	184					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCAGAAAATGGGAGAACAGAA	0.423000													19	34					0	0	0.006122	0	0
OR11H6	122748	broad.mit.edu	37	14	20692796	20692796	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:20692796C>T	ENST00000315519.2	+	1	1006	c.928C>T	c.(928-930)Ctt>Ttt	p.L310F		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TATCTATAGTCTTCGAAACAA	0.418000													102	40					0	0	0.003610	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794413	15794413	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:15794413G>C	ENST00000550308.1	+	7	1138	c.758G>C	c.(757-759)gGg>gCg	p.G253A	CYP4F12_ENST00000324632.9_Missense_Mutation_p.G253A	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TCCCATGACGGGCGGCGCTTC	0.552000													50	25					0	0	0.003610	0	0
OR2L8	391190	broad.mit.edu	37	1	248112502	248112502	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:248112502G>C	ENST00000357191.3	+	1	343	c.343G>C	c.(343-345)Gca>Cca	p.A115P	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACTACTTTTGGCATCTATGGC	0.438000													113	95					0	0	0.003610	0	0
CTLA4	1493	broad.mit.edu	37	2	204732769	204732769	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:204732769G>A	ENST00000302823.3	+	1	261	c.104G>A	c.(103-105)tGc>tAc	p.C35Y	CTLA4_ENST00000295854.6_Missense_Mutation_p.C35Y|CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000472206.1_Missense_Mutation_p.C35Y	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	35					B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	CCTGTCTTCTGCAAAGGTGAG	0.488000													22	137					0	0	0.002299	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208979	140208979	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:140208979C>T	ENST00000529310.1	+	1	1417	c.1303C>T	c.(1303-1305)Ctg>Ttg	p.L435L	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.L435L|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCCTTCGCTGTGGGCCAC	0.612000													28	59					0	0	0.002836	0	0
RDH10	157506	broad.mit.edu	37	8	74235015	74235015	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:74235015G>T	ENST00000240285.5	+	5	1550	c.872G>T	c.(871-873)cGc>cTc	p.R291L	RDH10_ENST00000519380.1_Missense_Mutation_p.R126L|RP11-434I12.2_ENST00000514599.1_RNA|RP11-434I12.2_ENST00000517475.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	291					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TGCACTCCCCGCCTCATGTAC	0.512000													69	68					4.83874e-46	1.10664e-45	0.003610	1	0
KMT2B	9757	broad.mit.edu	37	19	36216509	36216509	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:36216509A>G	ENST00000222270.7	+	12	3772	c.3772A>G	c.(3772-3774)Aaa>Gaa	p.K1258E	WBP7_ENST00000420124.1_Missense_Mutation_p.K1258E|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1																					CTGTGGACGCAAAGGTCGTGG	0.637000													22	46					0	0	0.001523	0	0
CLCN7	1186	broad.mit.edu	37	16	1507714	1507714	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:1507714C>A	ENST00000382745.4	-	8	1324	c.719G>T	c.(718-720)gGg>gTg	p.G240V	CLCN7_ENST00000448525.1_Missense_Mutation_p.G216V|CLCN7_ENST00000262318.8_Missense_Mutation_p.G216V	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	240			G -> R (in OPTB4).			integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GGCCAGGCCCCCGACCACGGA	0.627000													6	21					8.12818e-05	0.000110463	0.001984	1	0
INTS1	26173	broad.mit.edu	37	7	1539894	1539894	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:1539894C>A	ENST00000389470.4	-	5	841	c.842G>T	c.(841-843)cGc>cTc	p.R281L	INTS1_ENST00000404767.3_Missense_Mutation_p.R153L|INTS1_ENST00000493531.1_5'UTR			Q8N201	INT1_HUMAN	integrator complex subunit 1	153					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGCTTGGCGCGGGTGACCTT	0.627000													4	5					1.23904e-05	1.72906e-05	0.000602	1	0
CDH18	1016	broad.mit.edu	37	5	19571701	19571701	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:19571701T>A	ENST00000507958.1	-	10	2230	c.1240A>T	c.(1240-1242)Aac>Tac	p.N414Y	CDH18_ENST00000511273.1_Missense_Mutation_p.N414Y|CDH18_ENST00000502796.1_Missense_Mutation_p.N414Y|CDH18_ENST00000506372.1_Missense_Mutation_p.N414Y|CDH18_ENST00000274170.4_Missense_Mutation_p.N414Y|CDH18_ENST00000382275.1_Missense_Mutation_p.N414Y			Q13634	CAD18_HUMAN	cadherin 18, type 2	414	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACTAAGCTGTTAGTACTGTCA	0.373000													58	97					0	0	0.003610	0	0
CRB1	23418	broad.mit.edu	37	1	197404400	197404400	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:197404400G>T	ENST00000367397.1	+	5	2408	c.1550G>T	c.(1549-1551)gGc>gTc	p.G517V	CRB1_ENST00000535699.1_Missense_Mutation_p.G1112V|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.G617V|CRB1_ENST00000367399.2_Missense_Mutation_p.G1024V|CRB1_ENST00000367400.3_Missense_Mutation_p.G1136V			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1136	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTGGTCACTGGCTGTTTGCAG	0.413000													23	70					1.10923e-09	1.77909e-09	0.002780	1	0
EPHA5	2044	broad.mit.edu	37	4	66509117	66509117	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:66509117C>T	ENST00000273854.3	-	2	810	c.210G>A	c.(208-210)atG>atA	p.M70I	EPHA5_ENST00000432638.2_Missense_Mutation_p.M70I|EPHA5_ENST00000511294.1_Missense_Mutation_p.M70I|EPHA5_ENST00000354839.4_Missense_Mutation_p.M70I	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	70					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCAGGTCCCCCATGACAGTGC	0.323000										TSP Lung(17;0.13)			34	13					0	0	0.008740	0	0
STRA8	346673	broad.mit.edu	37	7	134931196	134931196	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:134931196G>T	ENST00000275764.3	+	6	474	c.474G>T	c.(472-474)atG>atT	p.M158I		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	158					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						AACAGACGATGGACCTTCTGA	0.597000													9	4					6.40141e-05	8.77197e-05	0.000978	1	0
CAPZA3	93661	broad.mit.edu	37	12	18891912	18891912	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:18891912A>T	ENST00000317658.3	+	1	868	c.710A>T	c.(709-711)cAa>cTa	p.Q237L		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	237					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AACAAATTTCAAGCTGCAGTC	0.428000													20	50					0	0	0.008871	0	0
UBR4	23352	broad.mit.edu	37	1	19454761	19454761	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:19454761C>A	ENST00000375267.2	-	62	9058	c.9055G>T	c.(9055-9057)Ggg>Tgg	p.G3019W	UBR4_ENST00000375254.3_Missense_Mutation_p.G3019W|UBR4_ENST00000375226.2_Missense_Mutation_p.G2995W|UBR4_ENST00000375217.2_Missense_Mutation_p.G3012W			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3019					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTAGGGCCCCCTTGTCTTTC	0.433000													52	21					5.73376e-24	1.17044e-23	0.003610	1	0
TSHZ1	10194	broad.mit.edu	37	18	72999633	72999633	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:72999633G>T	ENST00000322038.5	+	2	2720	c.2136G>T	c.(2134-2136)ctG>ctT	p.L712L	TSHZ1_ENST00000580243.1_Silent_p.L757L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	757						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACACCCACCTGGGCAAGGTGT	0.602000													7	31					8.12818e-05	0.000110463	0.001984	1	0
DIAPH1	1729	broad.mit.edu	37	5	140953299	140953299	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:140953299G>A	ENST00000253811.6	-	16	2258	c.2118C>T	c.(2116-2118)ccC>ccT	p.P706P	DIAPH1_ENST00000398562.2_Silent_p.P685P|DIAPH1_ENST00000398557.4_Silent_p.P706P|DIAPH1_ENST00000389054.3_Silent_p.P706P|DIAPH1_ENST00000398566.3_Silent_p.P697P|DIAPH1_ENST00000518047.1_Silent_p.P697P|DIAPH1_ENST00000520569.1_Silent_p.P652P|DIAPH1_ENST00000389057.5_Silent_p.P697P			O60610	DIAP1_HUMAN	diaphanous-related formin 1	706	FH1.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGGCAAGGGAGGAGGTG	0.637000													3	2					0	0	0.000602	0	0
AKNAD1	254268	broad.mit.edu	37	1	109377570	109377570	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:109377570A>G	ENST00000370001.3	-	8	1913	c.1645T>C	c.(1645-1647)Tgt>Cgt	p.C549R	AKNAD1_ENST00000357393.4_Missense_Mutation_p.C256R|AKNAD1_ENST00000369994.1_Missense_Mutation_p.C519R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.C549R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	549										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GCCAGCTCACAGAGCTCCTCG	0.667000													12	68					0	0	0.000978	0	0
C10orf90	118611	broad.mit.edu	37	10	128192828	128192828	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:128192828G>A	ENST00000284694.7	-	3	1061	c.941C>T	c.(940-942)cCa>cTa	p.P314L	C10orf90_ENST00000544758.1_Missense_Mutation_p.P411L|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.P267L|C10orf90_ENST00000356858.3_Missense_Mutation_p.P267L|C10orf90_ENST00000454341.1_Missense_Mutation_p.P314L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	314										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TTCGCTTATTGGCTCTCTGTT	0.532000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	32					0	0	0.006230	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629486	9629486	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:9629486C>G	ENST00000382492.2	-	1	977	c.659G>C	c.(658-660)aGg>aCg	p.R220T	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	220					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GGGTGCACCCCTGCCAGGAAC	0.493000													19	60					0	0	0.007413	0	0
GPR133	283383	broad.mit.edu	37	12	131456050	131456050	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:131456050A>G	ENST00000261654.5	+	4	794	c.235A>G	c.(235-237)Aag>Gag	p.K79E	GPR133_ENST00000535015.1_Missense_Mutation_p.K111E	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	79					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAAAGAGGAAAAGGGAGTCAC	0.463000													4	44					0	0	0.001168	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889722	23889722	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:23889722A>T	ENST00000532292.1	-	1	1453	c.1359T>A	c.(1357-1359)gaT>gaA	p.D453E		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTAAGCACTCATCTTTATACT	0.453000													26	23					0	0	0.006320	0	0
SF3A3	10946	broad.mit.edu	37	1	38447413	38447413	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:38447413G>C	ENST00000373019.4	-	7	1494	c.539C>G	c.(538-540)gCa>gGa	p.A180G	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Missense_Mutation_p.A127G	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	180					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTATACTCTGCATTCTTCCT	0.353000													41	15					0	0	0.008740	0	0
ABCA13	154664	broad.mit.edu	37	7	48316083	48316083	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:48316083C>A	ENST00000435803.1	+	17	6844	c.6820C>A	c.(6820-6822)Ctt>Att	p.L2274I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2274					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTCTTCTCCCTTTTTCTAAA	0.343000													9	24					7.48243e-07	1.09521e-06	0.006214	1	0
POTEF	728378	broad.mit.edu	37	2	130832405	130832405	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:130832405C>A	ENST00000357462.5	-	15	2733	c.2640G>T	c.(2638-2640)ctG>ctT	p.L880L	POTEF_ENST00000409914.2_Silent_p.L880L			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	880	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CCCGCCCAGCCAGGTCTAGGC	0.592000													18	25					3.52763e-06	5.02205e-06	0.004990	1	0
MN1	4330	broad.mit.edu	37	22	28146947	28146947	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:28146947C>T	ENST00000302326.4	-	2	4873	c.3919G>A	c.(3919-3921)Gac>Aac	p.D1307N	MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1307							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TTGGAGATGTCAGAATGCAGG	0.592000			T	ETV6	"""AML, meningioma"""								16	24					0	0	0.004007	0	0
ABCC1	4363	broad.mit.edu	37	16	16184348	16184348	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:16184348G>T	ENST00000399408.2	+	19	2722	c.2547G>T	c.(2545-2547)atG>atT	p.M849I	ABCC1_ENST00000399410.3_Missense_Mutation_p.M849I|ABCC1_ENST00000349029.5_Missense_Mutation_p.M734I|ABCC1_ENST00000346370.5_Missense_Mutation_p.M793I|ABCC1_ENST00000345148.5_Missense_Mutation_p.M849I|ABCC1_ENST00000351154.5_Missense_Mutation_p.M790I			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	849	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCTCTGAGATGGGCTCCTACC	0.597000													6	9					2.0095e-06	2.87737e-06	0.001984	1	0
DYSF	8291	broad.mit.edu	37	2	71892314	71892314	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:71892314G>C	ENST00000258104.3	+	46	5357	c.5080G>C	c.(5080-5082)Gac>Cac	p.D1694H	DYSF_ENST00000410041.1_Missense_Mutation_p.D1712H|DYSF_ENST00000410020.3_Missense_Mutation_p.D1733H|DYSF_ENST00000409366.1_Missense_Mutation_p.D1716H|DYSF_ENST00000409651.1_Missense_Mutation_p.D1726H|DYSF_ENST00000409582.3_Missense_Mutation_p.D1732H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.D1695H|DYSF_ENST00000409744.1_Missense_Mutation_p.D1702H|DYSF_ENST00000429174.2_Missense_Mutation_p.D1715H|DYSF_ENST00000413539.2_Missense_Mutation_p.D1725H|DYSF_ENST00000409762.1_Missense_Mutation_p.D1711H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1694						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCAGTGGCGGGACCAGCTCCG	0.562000													28	69					0	0	0.002836	0	0
PAMR1	25891	broad.mit.edu	37	11	35456226	35456226	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:35456226A>G	ENST00000378880.2	-	10	1905	c.1460T>C	c.(1459-1461)cTa>cCa	p.L487P	PAMR1_ENST00000278360.3_Missense_Mutation_p.L504P|PAMR1_ENST00000532848.1_Missense_Mutation_p.L447P|PAMR1_ENST00000378878.3_Missense_Mutation_p.L376P	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	487	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GCTGCAGACTAGGAACCACGC	0.617000													53	37					0	0	0.003610	0	0
DPY19L2	283417	broad.mit.edu	37	12	64041112	64041112	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:64041112C>G	ENST00000324472.4	-	5	805	c.622G>C	c.(622-624)Gga>Cga	p.G208R	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	208					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)		TTCATTATTCCCATGAATGTG	0.318000													55	58					0	0	0.003610	0	0
CHD7	55636	broad.mit.edu	37	8	61754571	61754571	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:61754571A>T	ENST00000423902.2	+	21	5289	c.4810A>T	c.(4810-4812)Agt>Tgt	p.S1604C	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1604					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)			CTATGCAAGGAGTGAATGTTT	0.443000													6	52					0	0	0.003080	0	0
USP34	9736	broad.mit.edu	37	2	61571046	61571046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:61571046C>A	ENST00000398571.2	-	16	2480	c.2404G>T	c.(2404-2406)Gag>Tag	p.E802*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	802					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGAACTAGCTCCTCTTCACAT	0.398000													20	73					1.33834e-09	2.12585e-09	0.007413	1	0
TRAF3IP1	26146	broad.mit.edu	37	2	239237863	239237863	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:239237863G>T	ENST00000373327.4	+	5	1017	c.795G>T	c.(793-795)agG>agT	p.R265S	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.R265S|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.R265S	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	265	Abolishes microtubules-binding when missing.|Arg-rich.|DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		tgagagacagggaccgagagc	0.587000													5	12					0.000602214	0.000796503	0.000602	1	0
CGREF1	10669	broad.mit.edu	37	2	27327173	27327173	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:27327173G>A	ENST00000402394.1	-	2	330	c.62C>T	c.(61-63)cCa>cTa	p.P21L	CGREF1_ENST00000312734.4_Missense_Mutation_p.P21L|CGREF1_ENST00000404694.3_Missense_Mutation_p.P143L|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.P21L|CGREF1_ENST00000405600.1_Missense_Mutation_p.P21L|CGREF1_ENST00000402550.1_Missense_Mutation_p.P21L	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	21					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	p.P21Q(1)		kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCATCCTTTGGGGCAGCCTG	0.562000													19	30					0	0	0.001882	0	0
SLC22A8	9376	broad.mit.edu	37	11	62766562	62766562	+	Splice_Site	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:62766562C>T	ENST00000336232.2	-	5	728		c.e5-1		SLC22A8_ENST00000542795.1_Splice_Site|SLC22A8_ENST00000311438.8_Splice_Site|SLC22A8_ENST00000535878.1_Splice_Site|SLC22A8_ENST00000430500.2_Splice_Site|SLC22A8_ENST00000545207.1_Splice_Site	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8						response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CATTCCACATCTGTGGGAGGA	0.607000													13	34					0	0	0.001855	0	0
UBR4	23352	broad.mit.edu	37	1	19497254	19497254	+	Splice_Site	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:19497254A>T	ENST00000375267.2	-	26	3647		c.e26+1		UBR4_ENST00000375254.3_Splice_Site|UBR4_ENST00000375226.2_Splice_Site|UBR4_ENST00000375217.2_Splice_Site			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTGTTCTCTTACCCAGAGTAT	0.423000													17	37					0	0	0.004007	0	0
CDH9	1007	broad.mit.edu	37	5	26886084	26886084	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:26886084C>A	ENST00000231021.4	-	10	1793	c.1621G>T	c.(1621-1623)Gat>Tat	p.D541Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	541	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D541N(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCTTTATTATCTACAATGGTG	0.303000													50	96					3.31993e-32	7.28908e-32	0.003610	1	0
FAXC	84553	broad.mit.edu	37	6	99790813	99790813	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:99790813C>A	ENST00000389677.5	-	2	645	c.363G>T	c.(361-363)aaG>aaT	p.K121N		NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN	failed axon connections homolog (Drosophila)	121																	AAGTTTCCATCTTTAAACAGA	0.353000													19	26					1.56452e-12	2.62883e-12	0.007413	1	0
CD19	930	broad.mit.edu	37	16	28947869	28947869	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:28947869C>A	ENST00000538922.1	+	7	1094	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P	CD19_ENST00000567541.1_Silent_p.P344P|CD19_ENST00000324662.3_Silent_p.P344P	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	344					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GAAGCGGGCCCCAGAACCAGT	0.637000													12	57					1.5842e-08	2.41915e-08	0.001855	1	0
AGAP2	116986	broad.mit.edu	37	12	58124303	58124303	+	Silent	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:58124303C>G	ENST00000257897.3	-	12	1480	c.1395G>C	c.(1393-1395)cgG>cgC	p.R465R	AGAP2_ENST00000547588.1_Silent_p.R801R	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	801	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GGGCCAAATTCCGGTCTGGCT	0.572000													128	195					0	0	0.003610	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664148	44664148	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:44664148G>A	ENST00000454036.1	+	3	398	c.322G>A	c.(322-324)Gag>Aag	p.E108K	SLC12A5_ENST00000372315.1_Missense_Mutation_p.E85K|SLC12A5_ENST00000539566.1_Missense_Mutation_p.E85K|SLC12A5_ENST00000243964.3_Missense_Mutation_p.E85K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	108					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGAAAACAATGAGGGTGGAAA	0.572000													37	65					0	0	0.004878	0	0
ATP10A	57194	broad.mit.edu	37	15	25924502	25924502	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:25924502T>A	ENST00000356865.6	-	21	4597	c.4486A>T	c.(4486-4488)Agg>Tgg	p.R1496W		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1496					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGTGACCGCCTTGAAGATGCT	0.423000													33	29					0	0	0.002836	0	0
LILRA1	11024	broad.mit.edu	37	19	55107261	55107261	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:55107261C>A	ENST00000251372.3	+	6	1001	c.819C>A	c.(817-819)ccC>ccA	p.P273P	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	273	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCCCACAGCCCCAGGCTGGGC	0.597000													23	47					7.87624e-14	1.36282e-13	0.002780	1	0
SKIV2L2	23517	broad.mit.edu	37	5	54649077	54649077	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:54649077G>C	ENST00000230640.5	+	14	1767	c.1513G>C	c.(1513-1515)Gat>Cat	p.D505H	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D404H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	505	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CCGCAAATTTGATGGGAAGGA	0.338000													42	9					0	0	0.002852	0	0
MYH2	4620	broad.mit.edu	37	17	10428110	10428110	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:10428110G>A	ENST00000245503.5	-	34	5319	c.4935C>T	c.(4933-4935)gcC>gcT	p.A1645A	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.A1645A|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1645					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGTTCCTCAGGGCCTCAGCAG	0.507000													31	55					0	0	0.002096	0	0
PAK6	56924	broad.mit.edu	37	15	40564701	40564701	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:40564701G>T	ENST00000455577.2	+	6	2047	c.1135G>T	c.(1135-1137)Ggt>Tgt	p.G379C	PAK6_ENST00000260404.4_Missense_Mutation_p.G379C|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.G379C|PAK6_ENST00000542403.2_Missense_Mutation_p.G379C|PAK6_ENST00000560346.1_Missense_Mutation_p.G379C|PAK6_ENST00000453867.1_Missense_Mutation_p.G379C	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	379	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TGCCCTGGCTGGTGAGGACAC	0.647000													9	9					7.48243e-07	1.09521e-06	0.006214	1	0
TTN	7273	broad.mit.edu	37	2	179642533	179642533	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179642533C>G	ENST00000589042.1	-	25	4602	c.4378G>C	c.(4378-4380)Gtg>Ctg	p.V1460L	TTN_ENST00000342992.6_Missense_Mutation_p.V1460L|TTN_ENST00000460472.2_Missense_Mutation_p.V1414L|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V1460L|TTN_ENST00000359218.5_Missense_Mutation_p.V1414L|TTN_ENST00000591111.1_Missense_Mutation_p.V1460L|TTN_ENST00000342175.6_Missense_Mutation_p.V1414L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1460	Ig-like 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTTTAACACAAAGACTGGT	0.448000													22	71					0	0	0.001523	0	0
GDF5	8200	broad.mit.edu	37	20	34021804	34021804	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:34021804C>A	ENST00000374372.1	-	4	1912	c.1409G>T	c.(1408-1410)cGg>cTg	p.R470L	GDF5_ENST00000374369.3_Missense_Mutation_p.R470L|GDF5OS_ENST00000374375.1_5'UTR			P43026	GDF5_HUMAN	growth differentiation factor 5	470					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGGACTCAGCCGCGTGGGCAC	0.577000													39	38					2.05212e-20	4.08769e-20	0.005524	1	0
ITIH2	3698	broad.mit.edu	37	10	7773912	7773912	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:7773912G>T	ENST00000358415.4	+	13	1766	c.1600G>T	c.(1600-1602)Gac>Tac	p.D534Y	ITIH2_ENST00000379587.4_Missense_Mutation_p.D523Y	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	534					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.D534H(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGGAAAATTTGACCCTGCTAA	0.423000													16	47					6.49762e-13	1.10493e-12	0.006122	1	0
ESR1	2099	broad.mit.edu	37	6	152419935	152419935	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:152419935T>A	ENST00000440973.1	+	10	1992	c.1622T>A	c.(1621-1623)cTg>cAg	p.L541Q	ESR1_ENST00000456483.2_Missense_Mutation_p.L429Q|ESR1_ENST00000443427.1_Missense_Mutation_p.L541Q|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000206249.3_Missense_Mutation_p.L541Q|ESR1_ENST00000338799.5_Missense_Mutation_p.L541Q|ESR1_ENST00000406599.1_Missense_Mutation_p.L280Q	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	541	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GACCTGCTGCTGGAGATGCTG	0.577000													19	21					0	0	0.001523	0	0
LAMC1	3915	broad.mit.edu	37	1	183086479	183086479	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:183086479A>C	ENST00000258341.4	+	9	1846	c.1589A>C	c.(1588-1590)cAg>cCg	p.Q530P		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	530	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTGCGGAACAGAGAGATGGC	0.478000													22	25					0	0	0.004656	0	0
PSME4	23198	broad.mit.edu	37	2	54146345	54146345	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:54146345C>A	ENST00000404125.1	-	20	2514	c.2459G>T	c.(2458-2460)tGt>tTt	p.C820F	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	820					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)			GCCAATTAAACAGTTGTGCAC	0.333000													20	40					5.35356e-11	8.75714e-11	0.002780	1	0
CALCA	796	broad.mit.edu	37	11	14990442	14990442	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:14990442G>T	ENST00000331587.4	-	4	447	c.329C>A	c.(328-330)gCa>gAa	p.A110E	CALCA_ENST00000396372.2_Missense_Mutation_p.A110E|CALCA_ENST00000486207.1_Intron|CALCA_ENST00000361010.3_Intron|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000359642.3_Missense_Mutation_p.A110E	NM_001741.2	NP_001732.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	113					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	AACCCCAATTGCAGTTTGGGG	0.517000													54	64					2.17126e-26	4.59358e-26	0.003610	1	0
FAM76A	199870	broad.mit.edu	37	1	28087051	28087051	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:28087051A>T	ENST00000373954.6	+	9	985	c.883A>T	c.(883-885)Agc>Tgc	p.S295C	FAM76A_ENST00000419687.2_Missense_Mutation_p.S215C|FAM76A_ENST00000373949.1_Missense_Mutation_p.S266C|FAM76A_ENST00000234549.7_Missense_Mutation_p.S300C|FAM76A_ENST00000010299.6_Missense_Mutation_p.S329C	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	295										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGTCCAAGAGCAAGAAGTC	0.458000													7	12					0	0	0.001984	0	0
SNCA	6622	broad.mit.edu	37	4	90650401	90650401	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:90650401T>A	ENST00000394989.2	-	4	554	c.292A>T	c.(292-294)Att>Ttt	p.I98F	SNCA_ENST00000394986.1_Missense_Mutation_p.I112F|SNCA_ENST00000506244.1_Missense_Mutation_p.I112F|SNCA_ENST00000505199.1_Missense_Mutation_p.I98F|SNCA_ENST00000420646.2_Intron|SNCA_ENST00000336904.3_Missense_Mutation_p.I112F|SNCA_ENST00000394991.3_Missense_Mutation_p.I112F|SNCA_ENST00000345009.4_Intron|SNCA_ENST00000508895.1_Missense_Mutation_p.I112F			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	112					activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	TCTTCCAGAATTCCTTCCTGT	0.373000													25	7					0	0	0.007291	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184559	130184559	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:130184559C>A	ENST00000422113.2	-	2	1090	c.764G>T	c.(763-765)aGt>aTt	p.S255I		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	255						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATCGATGTCACTGTGGCCTGT	0.602000													13	56					0.000219431	0.000295768	0.002450	1	0
IFNAR1	3454	broad.mit.edu	37	21	34721562	34721562	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr21:34721562G>T	ENST00000270139.3	+	7	1106	c.954G>T	c.(952-954)tgG>tgT	p.W318C	IFNAR1_ENST00000416947.2_Missense_Mutation_p.W249C|IFNAR1_ENST00000442357.2_Missense_Mutation_p.W318C	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	318	Fibronectin type-III 2.				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CATCTTTTTGGTCTGAAGAGA	0.343000													47	9					3.21987e-24	6.61379e-24	0.003610	1	0
ZAN	7455	broad.mit.edu	37	7	100385716	100385716	+	RNA	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:100385716C>T	ENST00000542585.1	+	0	7330				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTACCACCGTCTACGGCTATA	0.607000													49	5					0	0	0.003610	0	0
SLC7A2	6542	broad.mit.edu	37	8	17401089	17401089	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:17401089A>C	ENST00000470360.1	+	4	478	c.361A>C	c.(361-363)Atg>Ctg	p.M121L	SLC7A2_ENST00000494857.1_Missense_Mutation_p.M81L|SLC7A2_ENST00000398090.3_Missense_Mutation_p.M121L|SLC7A2_ENST00000522656.1_Missense_Mutation_p.M81L|SLC7A2_ENST00000004531.10_Missense_Mutation_p.M121L			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	81					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGCTTCAGTGATGGCTGGCCT	0.607000													12	26					0	0	0.000978	0	0
OR5F1	338674	broad.mit.edu	37	11	55761952	55761952	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55761952C>A	ENST00000278409.1	-	1	149	c.150G>T	c.(148-150)agG>agT	p.R50S		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGGAATCGATCCTGATTAAGA	0.438000													12	48					0.00136819	0.00179757	0.001368	1	0
CSPP1	79848	broad.mit.edu	37	8	68044212	68044212	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:68044212A>G	ENST00000262210.5	+	14	1740	c.1709A>G	c.(1708-1710)aAg>aGg	p.K570R	CSPP1_ENST00000412460.1_Missense_Mutation_p.K276R	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	605						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATGAACTGAAGATTACAAGT	0.338000													49	110					0	0	0.003610	0	0
USP28	57646	broad.mit.edu	37	11	113673938	113673938	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:113673938C>A	ENST00000003302.4	-	23	2872	c.2804G>T	c.(2803-2805)gGg>gTg	p.G935V	USP28_ENST00000260188.5_Missense_Mutation_p.G903V|USP28_ENST00000545540.1_Missense_Mutation_p.G778V|USP28_ENST00000544967.1_Missense_Mutation_p.G611V	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	935					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCGGCGGGGCCCCTTCATCAG	0.458000													18	60					1.56452e-12	2.62883e-12	0.007413	1	0
DNER	92737	broad.mit.edu	37	2	230253070	230253070	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:230253070G>T	ENST00000341772.4	-	11	1900	c.1766C>A	c.(1765-1767)cCc>cAc	p.P589H		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	589	EGF-like 10; calcium-binding (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATGGTGGCAGGGGTTACTGTC	0.502000													29	85					5.45727e-16	1.00593e-15	0.008361	1	0
SLC4A3	6508	broad.mit.edu	37	2	220505593	220505593	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:220505593C>A	ENST00000358055.3	+	22	4042	c.3530C>A	c.(3529-3531)gCc>gAc	p.A1177D	SLC4A3_ENST00000317151.3_Missense_Mutation_p.A1177D|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A1177D|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A1204D|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A1204D			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1177	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCACGGCGGCCTCACTCGCC	0.642000													5	32					1.23904e-05	1.72906e-05	0.000602	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68222835	68222835	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:68222835C>A	ENST00000347230.4	-	36	6754	c.6616G>T	c.(6616-6618)Ggc>Tgc	p.G2206C	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.G52C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2206					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGGAAAATGCCTTCTATAAAA	0.473000													250	69					2.1762e-106	5.10709e-106	0.003610	1	0
EBF1	1879	broad.mit.edu	37	5	158250262	158250262	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:158250262C>A	ENST00000313708.6	-	8	982	c.700G>T	c.(700-702)Gtc>Ttc	p.V234F	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.V211F|EBF1_ENST00000517373.1_Missense_Mutation_p.V234F	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	234					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTATTATGGACAAACATGTTA	0.468000			T	HMGA2	lipoma								25	10					3.08376e-08	4.68732e-08	0.003330	1	0
OR2T12	127064	broad.mit.edu	37	1	248458340	248458340	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:248458340C>T	ENST00000317996.1	-	1	540	c.541G>A	c.(541-543)Gtg>Atg	p.V181M		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V181M(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			CGCACCAACACGGGGGCCTCG	0.562000													21	43					0	0	0.001882	0	0
ITIH1	3697	broad.mit.edu	37	3	52812520	52812520	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:52812520C>A	ENST00000273283.2	+	3	327	c.303C>A	c.(301-303)gcC>gcA	p.A101A	ITIH1_ENST00000542827.1_Silent_p.A101A	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	101	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTGACTTTGCCGTGTGCGTGC	0.547000													34	8					8.73648e-17	1.63169e-16	0.004289	1	0
TMEM136	219902	broad.mit.edu	37	11	120198194	120198194	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:120198194G>T	ENST00000375095.2	+	2	285	c.44G>T	c.(43-45)gGc>gTc	p.G15V	TMEM136_ENST00000529187.1_Missense_Mutation_p.G37V|TMEM136_ENST00000314475.2_Missense_Mutation_p.G37V|TMEM136_ENST00000531346.1_Intron	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	15						integral to membrane				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		AGCCTGTGTGGCTGGCTCTCG	0.498000													23	36					3.62473e-10	5.86127e-10	0.001882	1	0
PAPPA	5069	broad.mit.edu	37	9	118949571	118949571	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:118949571T>C	ENST00000328252.3	+	2	923	c.554T>C	c.(553-555)aTc>aCc	p.I185T		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	185					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGACCACCATCAATGCCCAC	0.557000													18	74					0	0	0.002780	0	0
NLRP8	126205	broad.mit.edu	37	19	56466135	56466135	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:56466135C>A	ENST00000291971.3	+	3	782	c.711C>A	c.(709-711)cgC>cgA	p.R237R	NLRP8_ENST00000590542.1_Silent_p.R237R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	237	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCCACAAGCGCTGGTGTGCTT	0.532000													32	42					1.61788e-16	2.999e-16	0.002445	1	0
SYMPK	8189	broad.mit.edu	37	19	46357498	46357498	+	Splice_Site	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:46357498C>A	ENST00000245934.7	-	3	350	c.105_splice	c.e3-1	p.V36_splice		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	36	Interaction with HSF1.				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGATCCACCACCTGGAAGGAG	0.632000													10	23					6.40141e-05	8.77197e-05	0.000978	1	0
MAGI3	260425	broad.mit.edu	37	1	114186388	114186388	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:114186388G>T	ENST00000369615.1	+	11	2052	c.1990G>T	c.(1990-1992)Gcc>Tcc	p.A664S	MAGI3_ENST00000369611.4_Missense_Mutation_p.A664S|MAGI3_ENST00000307546.9_Missense_Mutation_p.A664S|MAGI3_ENST00000369617.4_Missense_Mutation_p.A689S	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	689	PDZ 3.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACCAAAACTGCCAAAATGGT	0.413000													33	63					3.62531e-18	6.91468e-18	0.004289	1	0
PCED1B	91523	broad.mit.edu	37	12	47629611	47629611	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:47629611G>A	ENST00000546455.1	+	4	1496	c.765G>A	c.(763-765)gaG>gaA	p.E255E	PCED1B_ENST00000432328.1_Silent_p.E255E					PC-esterase domain containing 1B																		GGGGTGTGGAGCTGCCCCACC	0.667000													4	8					0	0	0.000248	0	0
QARS	5859	broad.mit.edu	37	3	49135913	49135913	+	Splice_Site	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:49135913C>A	ENST00000306125.6	-	21	2294	c.1956_splice	c.e21-1	p.G653_splice	QARS_ENST00000414533.1_Splice_Site_p.G642_splice			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	653					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CCACTGGGGCCCTGGAAGTGG	0.572000													30	11					2.85442e-18	5.49739e-18	0.002096	1	0
MED13	9969	broad.mit.edu	37	17	60072552	60072552	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:60072552A>C	ENST00000397786.2	-	10	2218	c.2142T>G	c.(2140-2142)gaT>gaG	p.D714E		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	714					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TATTTTGTCTATCTTTTTTAT	0.358000													15	61					0	0	0.004007	0	0
WDR66	144406	broad.mit.edu	37	12	122395035	122395035	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:122395035T>C	ENST00000288912.4	+	11	2445	c.1591T>C	c.(1591-1593)Tct>Cct	p.S531P	WDR66_ENST00000397454.2_Missense_Mutation_p.S531P	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	531							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCACACCCTGTCTATTGTTAA	0.393000													46	34					0	0	0.003610	0	0
GRM8	2918	broad.mit.edu	37	7	126086158	126086158	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:126086158G>A	ENST00000358373.3	-	10	3262	c.2699C>T	c.(2698-2700)cCg>cTg	p.P900L	GRM8_ENST00000339582.2_Intron|GRM8_ENST00000444921.2_Intron	NM_001127323.1	NP_001120795.1	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	0					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTTGACCATCGGAAACTCTAC	0.443000										HNSCC(24;0.065)			31	112					0	0	0.003271	0	0
ORC3	23595	broad.mit.edu	37	6	88344667	88344667	+	Silent	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:88344667A>T	ENST00000392844.3	+	12	1338	c.1290A>T	c.(1288-1290)ccA>ccT	p.P430P	ORC3_ENST00000417380.2_Silent_p.P377P|ORC3_ENST00000546266.1_Silent_p.P287P|ORC3_ENST00000257789.4_Silent_p.P430P	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	430					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CCAAGTATCCACTAGGTCGAC	0.363000													21	62					0	0	0.002780	0	0
LARS	51520	broad.mit.edu	37	5	145531495	145531495	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:145531495T>C	ENST00000394434.2	-	14	1521	c.1355A>G	c.(1354-1356)cAg>cGg	p.Q452R	LARS_ENST00000274562.9_Missense_Mutation_p.Q425R|LARS_ENST00000510191.1_Missense_Mutation_p.Q398R|LARS_ENST00000545646.1_Missense_Mutation_p.Q406R	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	452	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ATTCTGGCTCTGAATTTTCAA	0.363000													156	31					0	0	0.003610	0	0
CDC37	11140	broad.mit.edu	37	19	10504034	10504034	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:10504034G>A	ENST00000222005.2	-	6	863	c.810C>T	c.(808-810)cgC>cgT	p.R270R		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	270					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CCTTCTCGATGCGCAGCTTGG	0.657000													55	5					0	0	0.003610	0	0
GDNF	2668	broad.mit.edu	37	5	37815911	37815911	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:37815911A>G	ENST00000326524.2	-	3	677	c.478T>C	c.(478-480)Ttg>Ctg	p.L160L	GDNF_ENST00000344622.4_Silent_p.L134L|GDNF_ENST00000515058.1_Silent_p.L134L|GDNF_ENST00000427982.1_Silent_p.L177L|GDNF_ENST00000381826.4_Silent_p.L151L	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	160					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					AAGTTTTTCAATATTTTGTCG	0.458000													52	135					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	8968943	8968943	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:8968943T>A	ENST00000397910.4	-	80	43276	c.43073A>T	c.(43072-43074)aAc>aTc	p.N14358I	MUC16_ENST00000380951.5_Missense_Mutation_p.N999I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14454	SEA 15.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAGTTGGTTGAGCTGAAA	0.438000													6	11					0	0	0.001168	0	0
TTC23L	153657	broad.mit.edu	37	5	34845695	34845695	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:34845695A>T	ENST00000505624.1	+	3	275	c.172A>T	c.(172-174)Aag>Tag	p.K58*	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	58							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AGAGAAGGAGAAGGCCATAGA	0.433000													15	62					0	0	0.004990	0	0
FLG	2312	broad.mit.edu	37	1	152283392	152283392	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:152283392C>T	ENST00000368799.1	-	3	4005	c.3970G>A	c.(3970-3972)Gac>Aac	p.D1324N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1324	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)			CTGGAGCTGTCTGCAGAGTGC	0.522000									Ichthyosis				196	218					0	0	0.003610	0	0
OVCH1	341350	broad.mit.edu	37	12	29642559	29642559	+	Silent	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:29642559G>C	ENST00000318184.5	-	6	695	c.696C>G	c.(694-696)gcC>gcG	p.A232A		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	232	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GTACCTGGCAGGCGTCCATTC	0.493000													8	8					0	0	0.004482	0	0
IQCD	115811	broad.mit.edu	37	12	113645859	113645859	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:113645859A>G	ENST00000546692.1	-	2	486	c.113T>C	c.(112-114)gTt>gCt	p.V38A	IQCD_ENST00000416617.2_Missense_Mutation_p.V38A|IQCD_ENST00000299732.2_Missense_Mutation_p.V38A			Q96DY2	IQCD_HUMAN	IQ motif containing D	38										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CCTAGAGAGAACCAAGGGTTT	0.512000													67	143					0	0	0.003610	0	0
ZNF341	84905	broad.mit.edu	37	20	32357916	32357916	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:32357916T>A	ENST00000375200.1	+	10	1805	c.1440T>A	c.(1438-1440)tgT>tgA	p.C480*	ZNF341_ENST00000342427.2_Nonsense_Mutation_p.C473*			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TCAAAAGCTGTGCCCAGACGT	0.592000													11	40					0	0	0.008291	0	0
ZNF93	81931	broad.mit.edu	37	19	20044023	20044023	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:20044023C>A	ENST00000343769.5	+	4	287	c.259C>A	c.(259-261)Cca>Aca	p.P87T	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	87						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AGATCTTTGGCCAGAGCAGAA	0.303000													11	21					2.80697e-09	4.42311e-09	0.000978	1	0
PRSS58	136541	broad.mit.edu	37	7	141954941	141954941	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:141954941A>T	ENST00000552471.1	-	3	689	c.370T>A	c.(370-372)Tac>Aac	p.Y124N	PRSS58_ENST00000547058.2_Missense_Mutation_p.Y124N			Q8IYP2	PRS58_HUMAN	protease, serine, 58	124	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ATAGTTTGGTAGGGCAGGTTG	0.403000													160	19					0	0	0.003610	0	0
SYCP2	10388	broad.mit.edu	37	20	58461890	58461890	+	Splice_Site	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:58461890C>T	ENST00000357552.3	-	25	2590		c.e25-1		SYCP2_ENST00000371001.2_Splice_Site			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2						cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACTTTTCTCTCTGAAAAAAAT	0.269000													24	27					0	0	0.002299	0	0
RNF207	388591	broad.mit.edu	37	1	6269998	6269998	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:6269998G>A	ENST00000377939.4	+	8	895	c.768G>A	c.(766-768)gaG>gaA	p.E256E	RNF207_ENST00000377948.2_Silent_p.E29E	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	256						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GGCTGGCAGAGAGGAAAGCGC	0.662000													25	30					0	0	0.005443	0	0
NINL	22981	broad.mit.edu	37	20	25450719	25450719	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:25450719A>G	ENST00000278886.6	-	18	3334	c.3261T>C	c.(3259-3261)caT>caC	p.H1087H	NINL_ENST00000422516.1_Silent_p.H738H	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1087					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CAGAAAGTCTATGGAACTCCA	0.507000											OREG0025846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	68	120					0	0	0.003610	0	0
TLL1	7092	broad.mit.edu	37	4	166986864	166986864	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:166986864G>T	ENST00000061240.2	+	16	2684	c.2037G>T	c.(2035-2037)tgG>tgT	p.W679C	TLL1_ENST00000507499.1_Missense_Mutation_p.W702C	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	679	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGGAGATCTGGAGTGGTCTTT	0.373000													45	18					4.01344e-20	7.94645e-20	0.003610	1	0
DCDC1	341019	broad.mit.edu	37	11	31125268	31125268	+	Silent	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:31125268T>C	ENST00000597505.1	-	12	1799	c.1800A>G	c.(1798-1800)gcA>gcG	p.A600A	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTCTGGCAAATGCACTCACTC	0.368000													57	25					0	0	0.003610	0	0
SYTL2	54843	broad.mit.edu	37	11	85435727	85435727	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:85435727T>A	ENST00000359152.5	-	1	3344	c.3345A>T	c.(3343-3345)ttA>ttT	p.L1115F	SYTL2_ENST00000525423.1_Missense_Mutation_p.L591F|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.L591F|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000528231.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCTCAGTTATTAACGGAGCCT	0.438000													47	31					0	0	0.003610	0	0
CUBN	8029	broad.mit.edu	37	10	17087992	17087992	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:17087992T>C	ENST00000377833.4	-	24	3496	c.3431A>G	c.(3430-3432)aAg>aGg	p.K1144R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1144	CUB 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGGTCACTCTTAAATTTTAA	0.398000													25	50					0	0	0.004656	0	0
C9orf131	138724	broad.mit.edu	37	9	35043482	35043482	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:35043482C>A	ENST00000312292.5	+	2	903	c.856C>A	c.(856-858)Ctc>Atc	p.L286I	C9orf131_ENST00000354479.5_Missense_Mutation_p.L213I|C9orf131_ENST00000421362.2_Missense_Mutation_p.L238I	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	286										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ATCACTACTCCTCCATCTGAG	0.567000													62	45					9.59835e-30	2.07509e-29	0.003610	1	0
LPHN3	23284	broad.mit.edu	37	4	62598529	62598529	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:62598529C>A	ENST00000512091.1	+	7	1199	c.452C>A	c.(451-453)tCc>tAc	p.S151Y	LPHN3_ENST00000514996.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000514591.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.S151Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.S219Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.S151Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	151	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTGTTTGAGTCCGACCACCAA	0.408000													5	3					0.00116845	0.00153718	0.001168	1	0
SOX5	6660	broad.mit.edu	37	12	23728774	23728774	+	Splice_Site	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:23728774T>A	ENST00000546136.1	-	9	1128		c.e9-2		SOX5_ENST00000309359.1_Splice_Site|SOX5_ENST00000396007.2_Splice_Site|SOX5_ENST00000537393.1_Splice_Site|SOX5_ENST00000451604.2_Splice_Site|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000545921.1_Splice_Site			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5						transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CACTTCATCCTGCAATGATCA	0.453000													14	43					0	0	0.002450	0	0
MS4A1	931	broad.mit.edu	37	11	60230578	60230578	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:60230578T>A	ENST00000534668.1	+	3	552	c.263T>A	c.(262-264)cTc>cAc	p.L88H	MS4A1_ENST00000389939.2_Missense_Mutation_p.L88H|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000532073.1_Missense_Mutation_p.L88H|MS4A1_ENST00000345732.4_Missense_Mutation_p.L88H	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	88					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TGGTACCCTCTCTGGGGAGGC	0.478000													27	82					0	0	0.001786	0	0
ZNF268	10795	broad.mit.edu	37	12	133779036	133779036	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:133779036G>T	ENST00000536435.2	+	6	1094	c.764G>T	c.(763-765)gGa>gTa	p.G255V	ZNF268_ENST00000537565.1_Missense_Mutation_p.G94V|ZNF268_ENST00000228289.5_Missense_Mutation_p.G255V|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	255						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ATTGAATCTGGAAAAACCGTC	0.368000													6	10					0.00198382	0.00258918	0.001984	1	0
PRODH	5625	broad.mit.edu	37	22	18918567	18918567	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:18918567C>T	ENST00000357068.6	-	2	683	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	PRODH_ENST00000334029.2_Missense_Mutation_p.A32T|PRODH_ENST00000420436.1_Missense_Mutation_p.A32T	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	140					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	TCCAGGATGGCGCTGACACCG	0.597000													11	48					0	0	0.008291	0	0
LOC146880	146880	broad.mit.edu	37	17	62750587	62750587	+	RNA	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:62750587T>C	ENST00000400873.3	-	0	2026					NR_026899.1																						GATTCACAACTTGCTGTATCT	0.428000													80	83					0	0	0.003610	0	0
PADI2	11240	broad.mit.edu	37	1	17413136	17413136	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:17413136C>A	ENST00000444885.2	-	5	551	c.470G>T	c.(469-471)tGg>tTg	p.W157L	PADI2_ENST00000375481.1_Silent_p.V238V|PADI2_ENST00000375486.4_Silent_p.V238V			Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	0					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TGTACTTGACCACATGGTAGA	0.607000													25	18					2.48779e-11	4.11715e-11	0.005443	1	0
PCDHA11	56138	broad.mit.edu	37	5	140250330	140250330	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:140250330G>T	ENST00000398640.2	+	1	1642	c.1642G>T	c.(1642-1644)Gtg>Ttg	p.V548L	PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCAGCAACGTGACGCTGCA	0.657000													70	31					1.356e-25	2.81456e-25	0.003610	1	0
PSD	5662	broad.mit.edu	37	10	104176638	104176638	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:104176638G>A	ENST00000020673.5	-	2	684	c.158C>T	c.(157-159)cCa>cTa	p.P53L	PSD_ENST00000406432.1_Missense_Mutation_p.P53L|PSD_ENST00000492902.2_5'UTR	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	53	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCGAGGACCTGGACCTGCCAC	0.697000													6	18					0	0	0.003080	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685292	125685292	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:125685292G>T	ENST00000371126.1	-	1	1542	c.1300C>A	c.(1300-1302)Cac>Aac	p.H434N		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	434										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTGTAGCAGTGGGTGTAGAGC	0.557000													56	19					3.40343e-31	7.45584e-31	0.003610	1	0
OSGIN1	29948	broad.mit.edu	37	16	83999445	83999445	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:83999445A>G	ENST00000343939.2	+	7	1899	c.1516A>G	c.(1516-1518)Aag>Gag	p.K506E	OSGIN1_ENST00000393306.1_Missense_Mutation_p.K423E|OSGIN1_ENST00000361711.3_Missense_Mutation_p.K423E			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	506					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GCTGAGCGCCAAGAGGAACCC	0.662000													33	17					0	0	0.006230	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671678	31671678	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:31671678G>T	ENST00000375483.3	+	3	675	c.675G>T	c.(673-675)acG>acT	p.T225T		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	225	Gly-rich.					cytoplasm|extracellular region	lipid binding										AAGGCATCACGGGGTAAGGAG	0.627000													26	44					5.61819e-17	1.05328e-16	0.005443	1	0
BOD1L1	259282	broad.mit.edu	37	4	13601180	13601180	+	Silent	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:13601180T>C	ENST00000040738.5	-	10	7479	c.7344A>G	c.(7342-7344)ggA>ggG	p.G2448G		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2448							DNA binding										TCTCTTTCTGTCCTCTTCCTG	0.483000											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	33					0	0	0.007413	0	0
FAM47A	158724	broad.mit.edu	37	X	34149869	34149869	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:34149869G>T	ENST00000346193.3	-	1	578	c.527C>A	c.(526-528)cCc>cAc	p.P176H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	176	Pro-rich.									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						AGGCTCAGTGGGTACCTCTGT	0.582000													34	6					5.91797e-21	1.18599e-20	0.002445	1	0
DIAPH3	81624	broad.mit.edu	37	13	60616906	60616906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:60616906C>A	ENST00000400324.4	-	5	764	c.544G>T	c.(544-546)Gag>Tag	p.E182*	DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000400320.1_Nonsense_Mutation_p.E136*|DIAPH3_ENST00000377908.2_Nonsense_Mutation_p.E171*|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3_ENST00000400319.1_Nonsense_Mutation_p.E112*|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3_ENST00000400330.1_Nonsense_Mutation_p.E182*|DIAPH3_ENST00000267215.4_Nonsense_Mutation_p.E182*	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	182	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ATTTTCAGCTCATGAATGAAT	0.408000													9	34					7.48243e-07	1.09521e-06	0.006214	1	0
LRP1	4035	broad.mit.edu	37	12	57573738	57573738	+	Splice_Site	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:57573738G>T	ENST00000243077.3	+	30	5606	c.5141_splice	c.e30+1	p.G1714_splice		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1714					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCTCTGCGTGGGTCAGTCTA	0.637000													49	76					1.86633e-21	3.75547e-21	0.003610	1	0
PAPPA2	60676	broad.mit.edu	37	1	176526293	176526293	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:176526293C>A	ENST00000367662.3	+	2	1999	c.835C>A	c.(835-837)Ctg>Atg	p.L279M	PAPPA2_ENST00000367661.3_Missense_Mutation_p.L279M	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	279					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCAGAAGTGCTGGCTGAGAT	0.582000													13	20					7.03913e-09	1.09178e-08	0.001368	1	0
OR6Y1	391112	broad.mit.edu	37	1	158517333	158517333	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:158517333G>T	ENST00000302617.3	-	1	562	c.563C>A	c.(562-564)cCa>cAa	p.P188Q		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTTAAGGAGTGGAGAGATATC	0.458000													19	26					1.45105e-14	2.5878e-14	0.006122	1	0
UGT1A3	54659	broad.mit.edu	37	2	234638412	234638412	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:234638412A>T	ENST00000482026.1	+	1	659	c.640A>T	c.(640-642)Atg>Ttg	p.M214L	UGT1A6_ENST00000406651.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GGTCAAGAACATGCTCTACCC	0.463000													58	139					0	0	0.003610	0	0
LHX8	431707	broad.mit.edu	37	1	75622645	75622645	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:75622645C>A	ENST00000294638.5	+	9	1542	c.878C>A	c.(877-879)cCa>cAa	p.P293Q	LHX8_ENST00000356261.3_Missense_Mutation_p.P283Q	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TCCTCCACCCCAGTCACAGCA	0.512000													21	109					4.35082e-09	6.81237e-09	0.001523	1	0
SLITRK2	84631	broad.mit.edu	37	X	144904472	144904472	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:144904472G>T	ENST00000370490.1	+	1	4784	c.529G>T	c.(529-531)Gtg>Ttg	p.V177L	SLITRK2_ENST00000434188.2_Missense_Mutation_p.V177L|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V177L|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V177L|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V177L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	177						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCAGCAATGTGTTCCGCTT	0.483000													31	9					2.80507e-11	4.61902e-11	0.002445	1	0
DHX34	9704	broad.mit.edu	37	19	47876150	47876150	+	Silent	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:47876150G>C	ENST00000328771.4	+	8	2281	c.1932G>C	c.(1930-1932)acG>acC	p.T644T		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	644						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ACCCCTTCACGCTCTTCAACG	0.677000													11	16					0	0	0.002450	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968119	99968119	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:99968119G>T	ENST00000298999.3	+	5	551	c.248G>T	c.(247-249)aGa>aTa	p.R83I	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.R83I|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		CATAATTGTAGAGAAGAAAAG	0.343000													27	92					6.32553e-13	1.07752e-12	0.004656	1	0
FAM74A3	728495	broad.mit.edu	37	9	40715911	40715911	+	RNA	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:40715911G>T	ENST00000604146.1	+	0	250					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGCTGTCCCGGAGAAGACGTG	0.562000													4	17					3.59834e-05	4.9653e-05	0.001168	1	0
MAGEB2	4113	broad.mit.edu	37	X	30237129	30237129	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:30237129G>T	ENST00000378988.4	+	2	533	c.432G>T	c.(430-432)agG>agT	p.R144S		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	144	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TTGGCAAAAGGTTCAGGGAGC	0.458000													7	8					0.00198382	0.00258918	0.001984	1	0
SLC22A12	116085	broad.mit.edu	37	11	64359072	64359072	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:64359072G>T	ENST00000377574.1	+	1	791	c.44G>T	c.(43-45)aGg>aTg	p.R15M	SLC22A12_ENST00000377567.2_Missense_Mutation_p.R15M|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R15M|SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R15M	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	15					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GGCCTGGGCAGGTTCCAGGTT	0.617000													8	117					7.48243e-07	1.09521e-06	0.006214	1	0
EEF1B2	1933	broad.mit.edu	37	2	207027263	207027263	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:207027263G>T	ENST00000392222.2	+	5	823	c.448G>T	c.(448-450)Gat>Tat	p.D150Y	EEF1B2_ENST00000392221.1_Missense_Mutation_p.D150Y|EEF1B2_ENST00000236957.5_Missense_Mutation_p.D150Y	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	150						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						GAAACCTTGGGATGATGAGAC	0.388000													137	106					1.02459e-47	2.35967e-47	0.003610	1	0
SLC6A5	9152	broad.mit.edu	37	11	20622673	20622673	+	Splice_Site	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:20622673A>T	ENST00000525748.1	+	2	276		c.e2-1			NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5						synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTGTGTTTGCAGGATTGCAGT	0.532000													4	9					0	0	0.000602	0	0
TGFBR3	7049	broad.mit.edu	37	1	92161253	92161253	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:92161253A>G	ENST00000212355.4	-	16	2878	c.2413T>C	c.(2413-2415)Ttg>Ctg	p.L805L	TGFBR3_ENST00000370399.2_Silent_p.L804L|TGFBR3_ENST00000525962.1_Silent_p.L805L	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	805					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ATGTACCACAAGGCCCCCGTC	0.478000													19	59					0	0	0.001882	0	0
MYH2	4620	broad.mit.edu	37	17	10426870	10426870	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:10426870C>G	ENST00000245503.5	-	37	5799	c.5415G>C	c.(5413-5415)gaG>gaC	p.E1805D	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1805D|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1805					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTGCTCAGCCTCATCCAGAC	0.567000													73	28					0	0	0.003610	0	0
LOC494141	494141	broad.mit.edu	37	11	18231335	18231335	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:18231335C>T	ENST00000527059.1	+	1	581	c.121C>T	c.(121-123)Cat>Tat	p.H41Y	RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.H41Y|RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.H41Y																							TGAAATGAAGCATTACTTGTG	0.428000													28	61					0	0	0.007291	0	0
EEF1B2	1933	broad.mit.edu	37	2	207027262	207027262	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:207027262G>T	ENST00000392222.2	+	5	822	c.447G>T	c.(445-447)tgG>tgT	p.W149C	EEF1B2_ENST00000392221.1_Missense_Mutation_p.W149C|EEF1B2_ENST00000236957.5_Missense_Mutation_p.W149C	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	149						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TGAAACCTTGGGATGATGAGA	0.393000													139	104					4.28481e-47	9.8451e-47	0.003610	1	0
MYOC	4653	broad.mit.edu	37	1	171621301	171621301	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:171621301C>A	ENST00000037502.5	-	1	510	c.451G>T	c.(451-453)Gtt>Ttt	p.V151F		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	151					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TCCTCCAGAACTGACTTGTCT	0.577000													101	144					1.41219e-46	3.23722e-46	0.003610	1	0
NOS1	4842	broad.mit.edu	37	12	117768862	117768862	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:117768862T>C	ENST00000317775.6	-	2	698	c.13A>G	c.(13-15)Atg>Gtg	p.M5V	NOS1_ENST00000344089.3_Missense_Mutation_p.M5V|NOS1_ENST00000338101.4_Missense_Mutation_p.M5V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	5	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACACCGAACATGTGATCCTCC	0.517000													32	69					0	0	0.005524	0	0
USP28	57646	broad.mit.edu	37	11	113673937	113673937	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:113673937C>A	ENST00000003302.4	-	23	2873	c.2805G>T	c.(2803-2805)ggG>ggT	p.G935G	USP28_ENST00000260188.5_Silent_p.G903G|USP28_ENST00000545540.1_Silent_p.G778G|USP28_ENST00000544967.1_Silent_p.G611G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	935					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCCGGCGGGGCCCCTTCATCA	0.458000													16	62					2.35188e-11	3.89876e-11	0.006122	1	0
MXRA5	25878	broad.mit.edu	37	X	3239833	3239833	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:3239833G>T	ENST00000217939.6	-	5	4047	c.3893C>A	c.(3892-3894)aCc>aAc	p.T1298N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1298						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTTCTGGTGGTTGTCATGTA	0.373000													76	14					3.33186e-49	7.69129e-49	0.003610	1	0
LRRC43	254050	broad.mit.edu	37	12	122676103	122676103	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:122676103G>A	ENST00000339777.4	+	6	1106	c.1078G>A	c.(1078-1080)Gtc>Atc	p.V360I	LRRC43_ENST00000425921.1_Missense_Mutation_p.V175I	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	360	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GTCCGCGGGCGTCCTGGCCGA	0.517000											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	47					0	0	0.003330	0	0
ZNF623	9831	broad.mit.edu	37	8	144733608	144733608	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:144733608G>T	ENST00000501748.2	+	1	1655	c.1566G>T	c.(1564-1566)ttG>ttT	p.L522F	ZNF623_ENST00000526926.1_Missense_Mutation_p.L482F|ZNF623_ENST00000458270.2_Missense_Mutation_p.L482F	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCATACATTTGGGTGAGAGGT	0.413000													38	68					9.80977e-26	2.04043e-25	0.004289	1	0
DDR2	4921	broad.mit.edu	37	1	162745580	162745580	+	Silent	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:162745580T>C	ENST00000367922.2	+	16	2433	c.1995T>C	c.(1993-1995)ttT>ttC	p.F665F	DDR2_ENST00000367921.3_Silent_p.F665F	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	665	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TCAATCAGTTTCTTTCCCGCC	0.473000													39	164					0	0	0.002522	0	0
PCDH17	27253	broad.mit.edu	37	13	58240920	58240920	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:58240920C>A	ENST00000377918.3	+	3	2776	c.2750C>A	c.(2749-2751)gCa>gAa	p.A917E		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	917					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTTAGGGAGGCACTCAAGATG	0.463000													14	27					0.00244969	0.00319301	0.002450	1	0
CCDC141	285025	broad.mit.edu	37	2	179702023	179702023	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179702023T>A	ENST00000420890.2	-	23	4040	c.3923A>T	c.(3922-3924)aAg>aTg	p.K1308M	CCDC141_ENST00000295723.5_Missense_Mutation_p.K733M|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	733							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGCAGTACTCTTTTCCACGAA	0.478000													22	53					0	0	0.001882	0	0
FAM57B	83723	broad.mit.edu	37	16	30036935	30036935	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:30036935G>T	ENST00000564806.1	-	3	547	c.502C>A	c.(502-504)Cgt>Agt	p.R168S	FAM57B_ENST00000279389.4_Intron|FAM57B_ENST00000380495.4_Intron			Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	0	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CAAAATGCACGGGGTGAGGGG	0.637000													35	12					3.90053e-15	7.04519e-15	0.002445	1	0
CASP1	834	broad.mit.edu	37	11	104897037	104897037	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:104897037G>T	ENST00000533400.1	-	9	1198	c.1163C>A	c.(1162-1164)aCc>aAc	p.T388N	CASP1_ENST00000598974.1_Missense_Mutation_p.T388N|CASP1_ENST00000527979.1_Missense_Mutation_p.T351N|CASP1_ENST00000526568.1_Missense_Mutation_p.T295N|CASP1_ENST00000525825.1_Missense_Mutation_p.T367N|CASP1_ENST00000446369.1_Missense_Mutation_p.T247N|CASP1_ENST00000393136.4_Missense_Mutation_p.T367N|CASP1_ENST00000436863.3_Missense_Mutation_p.T388N|CASP1_ENST00000531166.1_Missense_Mutation_p.T72N|CASP1_ENST00000353247.5_Missense_Mutation_p.T72N|CASP1_ENST00000415981.2_Missense_Mutation_p.T72N|CASP1_ENST00000594519.1_Missense_Mutation_p.T247N|CASP1_ENST00000593315.1_Missense_Mutation_p.T367N|CASP1_ENST00000534497.1_Missense_Mutation_p.T247N	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	388					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TCTTTCAGTGGTGGGCATCTG	0.408000													11	69					9.31168e-06	1.31053e-05	0.001855	1	0
SAMD15	161394	broad.mit.edu	37	14	77844926	77844926	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:77844926C>G	ENST00000216471.4	+	1	1451	c.1165C>G	c.(1165-1167)Cca>Gca	p.P389A	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	389										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGAGATCAACCCACAAGTTGA	0.413000													21	48					0	0	0.001523	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815123	106815123	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:106815123C>A	ENST00000407775.2	+	8	3063	c.2813C>A	c.(2812-2814)aCc>aAc	p.T938N	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T669N|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T806N|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T806N|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	938					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CACCTAGCAACCCTGCAAGGC	0.423000													13	20					2.61681e-11	4.31622e-11	0.002450	1	0
SLCO6A1	133482	broad.mit.edu	37	5	101774337	101774337	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:101774337C>A	ENST00000506729.1	-	7	1431	c.1260G>T	c.(1258-1260)gtG>gtT	p.V420V	SLCO6A1_ENST00000379807.3_Silent_p.V420V|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Silent_p.V358V|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	420						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GTGTAGTTGCCACAGTGGGTG	0.294000													49	12					6.87076e-12	1.14281e-11	0.003610	1	0
STARD3	10948	broad.mit.edu	37	17	37813294	37813294	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:37813294G>A	ENST00000336308.5	+	3	471	c.253G>A	c.(253-255)Gag>Aag	p.E85K	STARD3_ENST00000580611.1_Intron|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000394250.4_Missense_Mutation_p.E85K|STARD3_ENST00000544210.2_Missense_Mutation_p.E85K	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	85	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTTGGAGCAGGAGATCATCCA	0.557000													30	23					0	0	0.003755	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073090	15073090	+	Missense_Mutation	SNP	G	G	A	rs141656938	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:15073090G>A	ENST00000598504.1	-	8	2018	c.659C>T	c.(658-660)cCg>cTg	p.P220L	SLC1A6_ENST00000221742.3_Missense_Mutation_p.P220L|SLC1A6_ENST00000600144.1_Missense_Mutation_p.P220L|SLC1A6_ENST00000430939.2_Missense_Mutation_p.P156L|SLC1A6_ENST00000544886.2_Missense_Mutation_p.P220L	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	220					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GGAGGCACCCGGCTCAGACCC	0.547000													67	22					0	0	0.003610	0	0
C11orf82	220042	broad.mit.edu	37	11	82645081	82645081	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:82645081C>A	ENST00000533655.1	+	6	2913	c.2701C>A	c.(2701-2703)Cca>Aca	p.P901T	C11orf82_ENST00000329143.3_Missense_Mutation_p.P600T|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.P901T	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	901					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACAAGAGTTACCAAGAAAGAA	0.348000													18	31					1.56452e-12	2.62883e-12	0.007413	1	0
OR4C15	81309	broad.mit.edu	37	11	55322871	55322871	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55322871T>A	ENST00000314644.2	+	1	1089	c.1089T>A	c.(1087-1089)gaT>gaA	p.D363E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGGTTTCTGATGAGAAAGAAA	0.318000										HNSCC(20;0.049)			12	28					0	0	0.000978	0	0
DCC	1630	broad.mit.edu	37	18	50985817	50985817	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:50985817C>A	ENST00000442544.2	+	24	4224	c.3608C>A	c.(3607-3609)aCc>aAc	p.T1203N	DCC_ENST00000581580.1_Missense_Mutation_p.T838N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1203					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCAAAAGCACCTCTCATTCA	0.478000													22	27					2.37509e-13	4.07394e-13	0.001523	1	0
CD248	57124	broad.mit.edu	37	11	66083697	66083697	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:66083697C>A	ENST00000311330.3	-	1	818	c.802G>T	c.(802-804)Ggg>Tgg	p.G268W	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	268						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CAACTGCGCCCGTCTGCTGCC	0.672000													20	17					1.87028e-06	2.69757e-06	0.001882	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232650001	232650001	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:232650001G>A	ENST00000366630.1	-	2	1443	c.1085C>T	c.(1084-1086)tCt>tTt	p.S362F	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S362F			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	362					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGATGCTGCAGATGCCCCAGT	0.498000													56	73					0	0	0.003610	0	0
TTC12	54970	broad.mit.edu	37	11	113234595	113234595	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:113234595A>C	ENST00000393020.1	+	20	2167	c.1762A>C	c.(1762-1764)Atc>Ctc	p.I588L	TTC12_ENST00000314756.3_Missense_Mutation_p.I588L|TTC12_ENST00000483239.2_Missense_Mutation_p.I594L|TTC12_ENST00000529221.1_Missense_Mutation_p.I588L			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	588							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GATACTAGCTATCTGCACGAA	0.383000													14	34					0	0	0.004007	0	0
OR8K5	219453	broad.mit.edu	37	11	55926917	55926917	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55926917T>C	ENST00000313447.1	-	1	876	c.877A>G	c.(877-879)Aga>Gga	p.R293G		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TCTTCGTTTCTTAAGCTGTAA	0.313000													18	59					0	0	0.006122	0	0
CSMD3	114788	broad.mit.edu	37	8	113960063	113960063	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:113960063A>T	ENST00000297405.5	-	9	1708	c.1464T>A	c.(1462-1464)gaT>gaA	p.D488E	CSMD3_ENST00000455883.2_Missense_Mutation_p.D384E|CSMD3_ENST00000352409.3_Missense_Mutation_p.D488E|CSMD3_ENST00000343508.3_Missense_Mutation_p.D448E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	488	Sushi 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTTCTCCTGGATCTGGGCATA	0.303000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	62					0	0	0.006214	0	0
UBE2C	11065	broad.mit.edu	37	20	44444115	44444115	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:44444115G>T	ENST00000335046.3	+	4	364	c.303G>T	c.(301-303)tgG>tgT	p.W101C	UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000352551.5_Intron|UBE2C_ENST00000405520.1_Intron|UBE2C_ENST00000372568.4_Intron|UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000356455.4_Intron	NM_181799.1	NP_861515.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	122					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CCCTTGTGTGGGGCTTGGGTT	0.493000													72	64					3.83446e-41	8.68909e-41	0.003610	1	0
RP1L1	94137	broad.mit.edu	37	8	10465352	10465352	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:10465352C>G	ENST00000382483.3	-	4	6479	c.6256G>C	c.(6256-6258)Gat>Cat	p.D2086H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2086					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCTGGGCATCTACATCTTCT	0.632000													57	119					0	0	0.003610	0	0
TGFBR3	7049	broad.mit.edu	37	1	92193305	92193305	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:92193305C>G	ENST00000212355.4	-	7	1261	c.796G>C	c.(796-798)Gtc>Ctc	p.V266L	TGFBR3_ENST00000370399.2_Missense_Mutation_p.V266L|TGFBR3_ENST00000525962.1_Missense_Mutation_p.V266L	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	266					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGATTTTTGACCACTTCAAGA	0.383000													21	47					0	0	0.001523	0	0
HGF	3082	broad.mit.edu	37	7	81388012	81388012	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:81388012G>T	ENST00000222390.5	-	3	589	c.363C>A	c.(361-363)aaC>aaA	p.N121K	HGF_ENST00000453018.1_Missense_Mutation_p.N18K|HGF_ENST00000444829.2_Missense_Mutation_p.N121K|HGF_ENST00000423064.2_Missense_Mutation_p.N121K|HGF_ENST00000453411.1_Missense_Mutation_p.N121K|HGF_ENST00000457544.2_Missense_Mutation_p.N121K|HGF_ENST00000354224.6_Missense_Mutation_p.N121K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	121	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGTTACCTTTGTTTTCATAGA	0.338000													37	34					1.90571e-15	3.48674e-15	0.004289	1	0
CSPG4	1464	broad.mit.edu	37	15	75968962	75968962	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:75968962G>T	ENST00000308508.5	-	10	5990	c.5898C>A	c.(5896-5898)ctC>ctA	p.L1966L	CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1966	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AAACCACCCGGAGCTGCTGCT	0.672000													14	26					1.52009e-12	2.57607e-12	0.003163	1	0
MAP2	4133	broad.mit.edu	37	2	210559792	210559792	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:210559792G>T	ENST00000360351.4	+	7	3404	c.2898G>T	c.(2896-2898)aaG>aaT	p.K966N	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.K962N|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	966					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)	TACTAGAAAAGAGTGAAGAAC	0.403000													34	33					2.42023e-17	4.55465e-17	0.003271	1	0
EPHA5	2044	broad.mit.edu	37	4	66509116	66509116	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:66509116C>A	ENST00000273854.3	-	2	811	c.211G>T	c.(211-213)Ggg>Tgg	p.G71W	EPHA5_ENST00000432638.2_Missense_Mutation_p.G71W|EPHA5_ENST00000511294.1_Missense_Mutation_p.G71W|EPHA5_ENST00000354839.4_Missense_Mutation_p.G71W	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	71					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCCAGGTCCCCCATGACAGTG	0.318000										TSP Lung(17;0.13)			34	13					4.16155e-14	7.29008e-14	0.008740	1	0
CST9	128822	broad.mit.edu	37	20	23586332	23586332	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:23586332G>A	ENST00000376971.3	-	1	181	c.170C>T	c.(169-171)aCt>aTt	p.T57I		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	57						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					CACGTTGAAAGTGTTCAAGGC	0.498000													47	210					0	0	0.003610	0	0
OR52I1	390037	broad.mit.edu	37	11	4616129	4616129	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:4616129C>A	ENST00000450052.2	+	2	933	c.933C>A	c.(931-933)atC>atA	p.I311I	OR52I1_ENST00000530443.2_Silent_p.I287I			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTACGTGATCATCCCAGCCA	0.498000													54	49					2.74695e-27	5.87444e-27	0.003610	1	0
TTN	7273	broad.mit.edu	37	2	179648463	179648463	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179648463G>A	ENST00000589042.1	-	17	3049	c.2825C>T	c.(2824-2826)cCa>cTa	p.P942L	TTN_ENST00000342992.6_Missense_Mutation_p.P942L|TTN_ENST00000460472.2_Missense_Mutation_p.P896L|TTN_ENST00000360870.5_Missense_Mutation_p.P942L|TTN_ENST00000359218.5_Missense_Mutation_p.P896L|TTN_ENST00000591111.1_Missense_Mutation_p.P942L|TTN_ENST00000342175.6_Missense_Mutation_p.P896L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	942							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAGTTGGTGGAGTAACAGG	0.353000													23	72					0	0	0.006320	0	0
SELK	58515	broad.mit.edu	37	3	53925795	53925795	+	Splice_Site	SNP	A	A	G	rs113683665		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:53925795A>G	ENST00000495461.1	-	1	219		c.e1+1		SELK_ENST00000485414.1_Splice_Site|SELK_ENST00000541726.1_Splice_Site			Q9Y6D0	SELK_HUMAN							response to oxidative stress	endoplasmic reticulum									BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTCTCAACTTACCGTTCGAGA	0.607000													7	15					0	0	0.001984	0	0
PTPN5	84867	broad.mit.edu	37	11	18765577	18765577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:18765577G>T	ENST00000396170.1	-	4	1531	c.267C>A	c.(265-267)tgC>tgA	p.C89*	PTPN5_ENST00000358540.2_Nonsense_Mutation_p.C89*|PTPN5_ENST00000396171.4_Nonsense_Mutation_p.C89*|PTPN5_ENST00000396168.1_Nonsense_Mutation_p.C65*|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396167.2_Nonsense_Mutation_p.C89*	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	89						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CAGCGAACAGGCACAGGCTGC	0.662000													27	57					3.65163e-15	6.61983e-15	0.006320	1	0
TPR	7175	broad.mit.edu	37	1	186295264	186295264	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:186295264T>A	ENST00000367478.3	-	41	6289	c.5993A>T	c.(5992-5994)aAt>aTt	p.N1998I		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1998					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ataaccatcattgccatcggc	0.408000			T	NTRK1	papillary thyroid								44	65					0	0	0.003610	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43545941	43545941	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:43545941G>C	ENST00000430334.3	-	5	1075	c.942C>G	c.(940-942)agC>agG	p.S314R	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S225R	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	314					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCTGGGCTTTGCTGAATTCCA	0.512000													27	39					0	0	0.001786	0	0
NF1	4763	broad.mit.edu	37	17	29553455	29553455	+	Silent	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:29553455T>C	ENST00000358273.4	+	18	2387	c.2004T>C	c.(2002-2004)gaT>gaC	p.D668D	NF1_ENST00000356175.3_Silent_p.D668D	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	668					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTCTCAGGATAGTGCAGCAG	0.458000			"""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)			9	14					0	0	0.006214	0	0
CD163L1	283316	broad.mit.edu	37	12	7559354	7559354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:7559354G>T	ENST00000313599.3	-	5	918	c.861C>A	c.(859-861)tgC>tgA	p.C287*	CD163L1_ENST00000396630.1_Nonsense_Mutation_p.C287*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.C297*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	287	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACTTATGGTGGCATACGGTCC	0.498000													53	69					5.22555e-25	1.08009e-24	0.003610	1	0
IGF2	3481	broad.mit.edu	37	11	2156610	2156610	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:2156610G>T	ENST00000416167.2	-	2	1310	c.144C>A	c.(142-144)cgC>cgA	p.R48R	IGF2_ENST00000434045.2_Silent_p.R104R|IGF2_ENST00000381392.1_Silent_p.R48R|IGF2_ENST00000381395.1_Silent_p.R48R|IGF2_ENST00000337883.6_Silent_p.R48R|IGF2_ENST00000381406.4_Silent_p.R48R|IGF2_ENST00000381389.1_Silent_p.R48R|IGF2_ENST00000300632.5_Silent_p.R48R|IGF2_ENST00000418738.2_Silent_p.R48R			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	48	B.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AGTAGAAGCCGCGGTCCCCAC	0.637000													9	6					1.58986e-06	2.3032e-06	0.008291	1	0
CLCC1	23155	broad.mit.edu	37	1	109493041	109493041	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:109493041G>A	ENST00000369971.2	-	2	148	c.19C>T	c.(19-21)Ctt>Ttt	p.L7F	AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.L7F|CLCC1_ENST00000348264.2_Missense_Mutation_p.L7F|CLCC1_ENST00000302500.4_Missense_Mutation_p.L7F|CLCC1_ENST00000415331.1_Missense_Mutation_p.L7F|CLCC1_ENST00000369968.2_Missense_Mutation_p.L7F|CLCC1_ENST00000369969.2_Missense_Mutation_p.L7F|CLCC1_ENST00000369970.3_Missense_Mutation_p.L7F|CLCC1_ENST00000369976.1_Missense_Mutation_p.L7F	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	7						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CATTCACAAAGGAGCAAAGAA	0.338000													29	43					0	0	0.007291	0	0
REG3A	5068	broad.mit.edu	37	2	79385835	79385835	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:79385835G>T	ENST00000393878.1	-	2	391	c.137C>A	c.(136-138)gCc>gAc	p.A46D	REG3A_ENST00000409839.3_Missense_Mutation_p.A46D|REG3A_ENST00000305165.2_Missense_Mutation_p.A46D|AC011754.1_ENST00000415201.1_RNA	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	46	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GGAGCCATAGGCCTTGGAGCC	0.547000													22	22					3.5997e-14	6.33958e-14	0.002299	1	0
ALDH8A1	64577	broad.mit.edu	37	6	135263559	135263559	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:135263559G>T	ENST00000265605.2	-	3	498	c.430C>A	c.(430-432)Ccg>Acg	p.P144T	RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.P144T|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.P144T	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	144					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACTCCCACCGGGGCCCGCACC	0.572000													24	23					2.39556e-15	4.35878e-15	0.002780	1	0
DNAH2	146754	broad.mit.edu	37	17	7689630	7689630	+	Silent	SNP	C	C	T	rs150195626		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:7689630C>T	ENST00000572933.1	+	40	7778	c.6318C>T	c.(6316-6318)cgC>cgT	p.R2106R	DNAH2_ENST00000389173.2_Silent_p.R2106R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2106	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCTGTGCCGCGCCGGAGACC	0.597000													8	18					0	0	0.006214	0	0
SPINK6	404203	broad.mit.edu	37	5	147593482	147593482	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:147593482G>A	ENST00000325630.2	+	3	347	c.91G>A	c.(91-93)Ggt>Agt	p.G31S		NM_001195290.1|NM_205841.3	NP_001182219.1|NP_995313.2	Q6UWN8	ISK6_HUMAN	serine peptidase inhibitor, Kazal type 6	31	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTGACTGTGGTGAGTTCCA	0.463000													42	6					0	0	0.002522	0	0
DUSP21	63904	broad.mit.edu	37	X	44703516	44703516	+	Silent	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:44703516T>C	ENST00000339042.4	+	1	268	c.138T>C	c.(136-138)aaT>aaC	p.N46N		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	46	Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						TGTCCAGCAATCGCATCACCG	0.522000													49	18					0	0	0.003610	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80189444	80189444	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:80189444T>C	ENST00000450142.2	-	18	2823	c.2557A>G	c.(2557-2559)Aca>Gca	p.T853A	PPP1R12A_ENST00000550107.1_Missense_Mutation_p.T797A|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.T766A|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.T853A|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.T853A	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	853	Interaction with ROCK2.					contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GAAACTCCTGTAGATCTTCTT	0.333000													77	76					0	0	0.003610	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913898	77913898	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:77913898G>T	ENST00000321110.1	-	2	315	c.20C>A	c.(19-21)gCc>gAc	p.A7D		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	7							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						AATATAGGAGGCTGCTAAGTC	0.463000													7	4					2.0095e-06	2.87737e-06	0.001984	1	0
ZNF225	7768	broad.mit.edu	37	19	44635327	44635327	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:44635327A>T	ENST00000262894.6	+	5	840	c.560A>T	c.(559-561)tAt>tTt	p.Y187F	ZNF225_ENST00000590612.1_Missense_Mutation_p.Y187F|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AGTTTCTGTTATAGCTCAGCT	0.398000													20	33					0	0	0.007413	0	0
COL5A1	1289	broad.mit.edu	37	9	137701111	137701111	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:137701111G>A	ENST00000371817.3	+	43	3863	c.3449G>A	c.(3448-3450)gGt>gAt	p.G1150D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1150	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGCCCTGTGGGTCCCCCTGGA	0.622000													5	17					0	0	0.000602	0	0
TCF20	6942	broad.mit.edu	37	22	42607645	42607645	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:42607645G>C	ENST00000359486.3	-	1	3803	c.3667C>G	c.(3667-3669)Cta>Gta	p.L1223V	TCF20_ENST00000335626.4_Missense_Mutation_p.L1223V	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCCTCAGCTAGTCCATGTCCA	0.512000													19	23					0	0	0.006122	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148809	103148809	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:103148809G>T	ENST00000295269.4	+	12	2516	c.2059G>T	c.(2059-2061)Gga>Tga	p.G687*		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	687					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAGTGATCCAGGATCCCCATC	0.453000													22	90					2.70639e-06	3.86963e-06	0.002299	1	0
SLC10A7	84068	broad.mit.edu	37	4	147438231	147438231	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:147438231C>A	ENST00000432059.2	-	2	388	c.142G>T	c.(142-144)Gca>Tca	p.A48S	SLC10A7_ENST00000507030.1_Missense_Mutation_p.A48S|SLC10A7_ENST00000394062.3_Missense_Mutation_p.A48S|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000394059.4_Missense_Mutation_p.A48S|SLC10A7_ENST00000335472.7_Missense_Mutation_p.A48S|SLC10A7_ENST00000511374.1_Missense_Mutation_p.A48S|SLC10A7_ENST00000502607.1_Missense_Mutation_p.A48S|SLC10A7_ENST00000264986.3_Missense_Mutation_p.A48S			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	48						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AATATTGTTGCAACAGCAATG	0.338000													73	40					3.30373e-36	7.38482e-36	0.003610	1	0
ZBED1	9189	broad.mit.edu	37	X	2406920	2406920	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:2406920G>A	ENST00000381223.4	-	2	2044	c.1841C>T	c.(1840-1842)aCg>aTg	p.T614M	ZBED1_ENST00000381218.3_Missense_Mutation_p.T614M|DHRSX_ENST00000334651.5_Intron|RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381222.2_Missense_Mutation_p.T614M	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	614						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGACGCGCGTGGCCGTCAC	0.667000													46	71					0	0	0.003214	0	0
TTN	7273	broad.mit.edu	37	2	179397732	179397732	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179397732C>T	ENST00000589042.1	-	358	103834	c.103610G>A	c.(103609-103611)cGg>cAg	p.R34537Q	TTN_ENST00000342992.6_Missense_Mutation_p.R31969Q|TTN_ENST00000460472.2_Missense_Mutation_p.R25472Q|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25597Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32896Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25664Q|TTN-AS1_ENST00000450692.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32896							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAAGGCATCCGGAGTTTTCT	0.458000													53	154					0	0	0.003610	0	0
GM2A	2760	broad.mit.edu	37	5	150632802	150632802	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:150632802C>T	ENST00000357164.3	+	1	350	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	9						lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGCTCCCCTCCTGATCGC	0.592000													21	50					0	0	0.002299	0	0
NIPBL	25836	broad.mit.edu	37	5	37007478	37007478	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:37007478A>T	ENST00000282516.8	+	18	4640	c.4141A>T	c.(4141-4143)Aga>Tga	p.R1381*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.R1381*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1381					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCATAAGCAGAGAGTAATAGT	0.318000													17	47					0	0	0.004990	0	0
ZNF195	7748	broad.mit.edu	37	11	3392868	3392868	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:3392868G>A	ENST00000354599.6	-	2	173	c.69C>T	c.(67-69)ctC>ctT	p.L23L	ZNF195_ENST00000438262.2_Silent_p.L27L|ZNF195_ENST00000528796.1_Silent_p.L23L|ZNF195_ENST00000343338.7_Silent_p.L27L|ZNF195_ENST00000526601.1_Silent_p.L27L|ZNF195_ENST00000399602.4_Silent_p.L23L|ZNF195_ENST00000527386.1_5'UTR|ZNF195_ENST00000429541.2_Silent_p.L27L|ZNF195_ENST00000005082.9_Silent_p.L23L	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCTGCTGAGCGAGGTCCAGGC	0.443000													28	57					0	0	0.008361	0	0
POLD4	57804	broad.mit.edu	37	11	67120236	67120236	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:67120236C>G	ENST00000312419.3	-	3	371	c.225G>C	c.(223-225)caG>caC	p.Q75H	POLD4_ENST00000539074.1_Intron|AP003419.11_ENST00000543494.1_RNA|POLD4_ENST00000529704.1_5'UTR	NM_021173.4	NP_066996.3	Q9HCU8	DPOD4_HUMAN	polymerase (DNA-directed), delta 4, accessory subunit	75					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			CCAAGCCCATCTGCTTGGCCC	0.652000													16	32					0	0	0.007413	0	0
TENM2	57451	broad.mit.edu	37	5	167674028	167674028	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:167674028A>T	ENST00000519204.1	+	26	5839	c.5721A>T	c.(5719-5721)ttA>ttT	p.L1907F	TENM2_ENST00000518659.1_Missense_Mutation_p.L2028F|TENM2_ENST00000545108.1_Missense_Mutation_p.L2027F|TENM2_ENST00000403607.2_Missense_Mutation_p.L1852F|TENM2_ENST00000520394.1_Missense_Mutation_p.L1789F					teneurin transmembrane protein 2																		TCTCCAAGTTATCAGAGATTG	0.527000													16	57					0	0	0.008871	0	0
VRK2	7444	broad.mit.edu	37	2	58311222	58311222	+	Splice_Site	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:58311222A>T	ENST00000435505.2	+	6	881		c.e6-1		VRK2_ENST00000440705.2_Splice_Site|VRK2_ENST00000340157.4_Splice_Site|VRK2_ENST00000412104.2_Splice_Site|VRK2_ENST00000417641.2_Splice_Site			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2							integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TTTTGTCTGCAGCTTTCCCCA	0.328000													36	55					0	0	0.004878	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43833464	43833464	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:43833464G>T	ENST00000389420.3	-	18	2553	c.2554C>A	c.(2554-2556)Ccc>Acc	p.P852T	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P6T|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P852T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	852	TSP type-1 2.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGTCCATAGGGGTCCCATGTG	0.433000													37	62					2.40579e-17	4.54478e-17	0.006230	1	0
CTLA4	1493	broad.mit.edu	37	2	204735330	204735330	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:204735330C>T	ENST00000302823.3	+	2	288	c.131C>T	c.(130-132)gCt>gTt	p.A44V	CTLA4_ENST00000295854.6_Missense_Mutation_p.A44V|CTLA4_ENST00000427473.2_Missense_Mutation_p.A7V|CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000472206.1_Missense_Mutation_p.A44V	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	44	Ig-like V-type.				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	GCCCAGCCTGCTGTGGTACTG	0.582000													200	40					0	0	0.003610	0	0
OR10H1	26539	broad.mit.edu	37	19	15918728	15918728	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:15918728C>A	ENST00000334920.2	-	1	208	c.120G>T	c.(118-120)ctG>ctT	p.L40L		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GCAGGTTGCCCAGCAGCGTGA	0.597000													54	11					2.03366e-24	4.19469e-24	0.003610	1	0
PAPLN	89932	broad.mit.edu	37	14	73719443	73719443	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:73719443C>A	ENST00000427855.1	+	11	1156	c.1054C>A	c.(1054-1056)Cgg>Agg	p.R352R	PAPLN_ENST00000554301.1_Silent_p.R352R|PAPLN_ENST00000340738.5_Silent_p.R325R|PAPLN_ENST00000381166.3_Silent_p.R352R|PAPLN_ENST00000555445.1_Silent_p.R352R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	352	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	p.R352W(1)|p.R325W(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCAGCTGACCGGCGTTCCTG	0.642000													49	56					2.43277e-16	4.50108e-16	0.003610	1	0
HYDIN	54768	broad.mit.edu	37	16	71015345	71015345	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:71015345C>A	ENST00000393567.2	-	29	4609	c.4459G>T	c.(4459-4461)Gga>Tga	p.G1487*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1487										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)				ATTCCCTCTCCGCTCAGAGTG	0.478000													18	39					7.16444e-05	9.79041e-05	0.003954	1	0
ALG9	79796	broad.mit.edu	37	11	111709015	111709015	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:111709015C>A	ENST00000398006.2	-	11	1655	c.747G>T	c.(745-747)ctG>ctT	p.L249L	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000531154.1_Silent_p.L256L|ALG9_ENST00000524880.1_3'UTR	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	420					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AGAGCCCAAACAGGAAGACAG	0.428000													22	19					1.28384e-07	1.92478e-07	0.001882	1	0
EMILIN3	90187	broad.mit.edu	37	20	39991455	39991455	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:39991455G>A	ENST00000332312.3	-	4	946	c.754C>T	c.(754-756)Cta>Tta	p.L252L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	252						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				ACCTTGCTTAGGATCTCGTCT	0.602000													23	34					0	0	0.002780	0	0
LHX1	3975	broad.mit.edu	37	17	35300422	35300422	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:35300422G>T	ENST00000254457.5	+	5	2626	c.1215G>T	c.(1213-1215)gtG>gtT	p.V405V	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	405					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGGCGGCCGTGTGGTAGCGGG	0.527000													12	5					9.31168e-06	1.31053e-05	0.001855	1	0
SNRPC	6631	broad.mit.edu	37	6	34730397	34730397	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:34730397G>T	ENST00000374017.3	+	2	427	c.140G>T	c.(139-141)aGt>aTt	p.S47I	SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000244520.5_Missense_Mutation_p.S26I|SNRPC_ENST00000374018.1_5'UTR			P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	26					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						ACACACTGCAGTGGAAGGAAA	0.343000													7	50					0.000157383	0.000212424	0.003080	1	0
WNT3A	89780	broad.mit.edu	37	1	228246785	228246785	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:228246785C>A	ENST00000284523.1	+	4	756	c.678C>A	c.(676-678)gcC>gcA	p.A226A	WNT3A_ENST00000366753.2_Silent_p.A226A	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	226					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				ACTTCCGCGCCATCGGTGACT	0.657000													19	36					1.78486e-19	3.4989e-19	0.007413	1	0
EXPH5	23086	broad.mit.edu	37	11	108412428	108412428	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:108412428C>G	ENST00000265843.4	-	2	341	c.231G>C	c.(229-231)atG>atC	p.M77I	EXPH5_ENST00000428840.1_Start_Codon_SNP_p.M1I|EXPH5_ENST00000525344.1_Missense_Mutation_p.M70I	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	77					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTTGTTTTAACATTTGGCTAA	0.338000													20	53					0	0	0.008871	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374360	95374360	+	RNA	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:95374360C>A	ENST00000494840.1	-	0	1501					NR_077228.1																						AATATTGGTCCAAACACTTTC	0.448000													64	12					9.65139e-37	2.16718e-36	0.003610	1	0
RYR2	6262	broad.mit.edu	37	1	237754103	237754103	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:237754103G>T	ENST00000366574.2	+	31	4288	c.3971G>T	c.(3970-3972)gGg>gTg	p.G1324V	RYR2_ENST00000360064.6_Missense_Mutation_p.G1322V|RYR2_ENST00000542537.1_Missense_Mutation_p.G1308V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1324	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGCTCCCTGGGGCTGGCCTT	0.522000													34	84					1.61788e-16	2.999e-16	0.002445	1	0
OR4L1	122742	broad.mit.edu	37	14	20528618	20528618	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:20528618A>T	ENST00000315683.1	+	1	415	c.415A>T	c.(415-417)Aag>Tag	p.K139*		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CATGAGCCACAAGCTGCTAAA	0.423000													21	99					0	0	0.001523	0	0
MYH1	4619	broad.mit.edu	37	17	10406197	10406197	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:10406197T>C	ENST00000226207.5	-	24	3063	c.2969A>G	c.(2968-2970)gAt>gGt	p.D990G	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	990						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AATGGTTTCATCCAGACCCGC	0.512000													48	107					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179590619	179590619	+	Silent	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179590619T>A	ENST00000589042.1	-	70	20654	c.20430A>T	c.(20428-20430)gcA>gcT	p.A6810A	TTN_ENST00000342992.6_Silent_p.A5566A|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.A6493A|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6493	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTTTGGATGCAATCTTGT	0.428000													24	15					0	0	0.002299	0	0
ARPP21	10777	broad.mit.edu	37	3	35778760	35778760	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:35778760C>A	ENST00000187397.4	+	16	2006	c.1550C>A	c.(1549-1551)tCc>tAc	p.S517Y	ARPP21_ENST00000444190.1_Missense_Mutation_p.S463Y|ARPP21_ENST00000417925.1_Missense_Mutation_p.S483Y|ARPP21_ENST00000337271.5_Missense_Mutation_p.S463Y|ARPP21_ENST00000458225.1_Missense_Mutation_p.S483Y	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	517	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GTGGGGCAGTCCCAACAGCAG	0.637000													19	17					8.00594e-06	1.12998e-05	0.007413	1	0
ZFP30	22835	broad.mit.edu	37	19	38127134	38127134	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:38127134C>A	ENST00000351218.2	-	6	865	c.308G>T	c.(307-309)tGg>tTg	p.W103L	ZFP30_ENST00000514101.2_Missense_Mutation_p.W103L|ZFP30_ENST00000392144.1_Missense_Mutation_p.W103L|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATTACCTTCCACTGAGATAA	0.338000													19	20					1.33834e-09	2.12585e-09	0.007413	1	0
SEZ6L	23544	broad.mit.edu	37	22	26747120	26747120	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:26747120G>T	ENST00000529632.2	+	12	2706	c.2510G>T	c.(2509-2511)gGt>gTt	p.G837V	SEZ6L_ENST00000404234.3_Missense_Mutation_p.G837V|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G610V|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G610V|SEZ6L_ENST00000411842.2_Missense_Mutation_p.G34V|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G837V|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G837V	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	837	Sushi 4.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCAACCCCGGTTTTGTGCTT	0.572000													12	34					2.27111e-07	3.3793e-07	0.001368	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33649767	33649767	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:33649767C>A	ENST00000504830.1	-	8	1561	c.1226G>T	c.(1225-1227)tGt>tTt	p.C409F	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.C409F|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	409	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACAGGCTCACAGTCATTTTC	0.542000										HNSCC(64;0.19)			19	63					2.27731e-05	3.16453e-05	0.001882	1	0
PKDREJ	10343	broad.mit.edu	37	22	46655173	46655173	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:46655173A>T	ENST00000253255.5	-	1	4046	c.4047T>A	c.(4045-4047)gaT>gaA	p.D1349E		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1349					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCAGACGCTCATCTGGATGGG	0.388000													5	60					0	0	0.000602	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101776570	101776570	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:101776570G>C	ENST00000334289.3	-	4	845	c.250C>G	c.(250-252)Caa>Gaa	p.Q84E		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	84					signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		ATAGAATTTTGCAAATTTCCT	0.279000													10	38					0	0	0.006214	0	0
ZNF500	26048	broad.mit.edu	37	16	4815625	4815625	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:4815625C>A	ENST00000219478.6	-	2	654	c.355G>T	c.(355-357)Gag>Tag	p.E119*	ZNF500_ENST00000545009.1_Nonsense_Mutation_p.E119*			O60304	ZN500_HUMAN	zinc finger protein 500	119	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						ACGGCCTCCTCACCGCTCTCC	0.647000													16	36					6.31663e-08	9.54255e-08	0.003163	1	0
COBL	23242	broad.mit.edu	37	7	51092955	51092955	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:51092955G>A	ENST00000395542.2	-	14	4049	c.3865C>T	c.(3865-3867)Ccc>Tcc	p.P1289S	COBL_ENST00000265136.7_Missense_Mutation_p.P1207S			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1207										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGTGGTGGGGGAATGGCTGGT	0.627000													6	18					0	0	0.001168	0	0
FAT3	120114	broad.mit.edu	37	11	92577505	92577505	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:92577505C>G	ENST00000298047.6	+	18	10989	c.10972C>G	c.(10972-10974)Cct>Gct	p.P3658A	FAT3_ENST00000409404.2_Missense_Mutation_p.P3658A|FAT3_ENST00000533797.1_Intron|FAT3_ENST00000525166.1_Missense_Mutation_p.P3508A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3658					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAATGTGTCCCCTGAGGACTT	0.572000										TCGA Ovarian(4;0.039)			25	55					0	0	0.003954	0	0
KEL	3792	broad.mit.edu	37	7	142639611	142639611	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:142639611G>A	ENST00000355265.2	-	18	2421	c.1947C>T	c.(1945-1947)taC>taT	p.Y649Y		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	649					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCTCTTGCTGTATGCCTGGG	0.587000													17	3					0	0	0.007413	0	0
FCHO2	115548	broad.mit.edu	37	5	72383470	72383470	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:72383470C>T	ENST00000430046.2	+	25	2416	c.2300C>T	c.(2299-2301)aCg>aTg	p.T767M	FCHO2_ENST00000341845.6_Missense_Mutation_p.T767M|FCHO2_ENST00000512348.1_Missense_Mutation_p.T734M	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	767										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AGTAAACCCACGACACTTGCA	0.433000													7	37					0	0	0.001984	0	0
OR56A4	120793	broad.mit.edu	37	11	6024341	6024341	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:6024341A>T	ENST00000330728.4	-	1	83	c.38T>A	c.(37-39)aTa>aAa	p.I13K		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGCCCTGTATCTGTCCCAA	0.368000													27	36					0	0	0.002096	0	0
THSD7B	80731	broad.mit.edu	37	2	137988717	137988717	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:137988717G>C	ENST00000409968.1	+	8	2005	c.1827G>C	c.(1825-1827)gaG>gaC	p.E609D	THSD7B_ENST00000272643.3_Missense_Mutation_p.E609D|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E578D					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGTGGACGGAGTGGTCATCCT	0.512000													10	17					0	0	0.008291	0	0
DESI2	51029	broad.mit.edu	37	1	244849926	244849926	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:244849926A>T	ENST00000302550.11	+	2	449	c.70A>T	c.(70-72)Att>Ttt	p.I24F	DESI2_ENST00000263831.7_Missense_Mutation_p.I24F	NM_016076.3	NP_057160.2	Q9BSY9	PPDE1_HUMAN	desumoylating isopeptidase 2	24	PPPDE peptidase.																TACCTCATCCATTGGAATTGG	0.363000													13	30					0	0	0.001855	0	0
SLC52A3	113278	broad.mit.edu	37	20	744613	744613	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:744613C>A	ENST00000381944.3	-	3	843	c.602G>T	c.(601-603)gGa>gTa	p.G201V	SLC52A3_ENST00000217254.7_Missense_Mutation_p.G201V|SLC52A3_ENST00000473664.1_Intron			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	201					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										TGCTTCCATTCCGGGGAGGGC	0.587000													8	14					0.00307968	0.00400886	0.003080	1	0
SNTG1	54212	broad.mit.edu	37	8	51617187	51617187	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:51617187C>A	ENST00000522124.1	+	16	1727	c.1066C>A	c.(1066-1068)Cag>Aag	p.Q356K	SNTG1_ENST00000276467.5_Missense_Mutation_p.Q356K|SNTG1_ENST00000517473.1_Missense_Mutation_p.Q356K|SNTG1_ENST00000518864.1_Missense_Mutation_p.Q356K	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	356	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CCGACGGAAACAGTGCTTCAC	0.552000													93	99					6.84326e-50	1.5834e-49	0.003610	1	0
RBFOX1	54715	broad.mit.edu	37	16	7645589	7645589	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:7645589G>T	ENST00000340209.4	+	5	819	c.522G>T	c.(520-522)gcG>gcT	p.A174A	RBFOX1_ENST00000436368.2_Silent_p.A189A|RBFOX1_ENST00000553186.1_Silent_p.A169A|RBFOX1_ENST00000422070.4_Silent_p.A212A|RBFOX1_ENST00000550418.1_Silent_p.A169A|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547338.1_Silent_p.A169A|RBFOX1_ENST00000311745.5_Silent_p.A189A|RBFOX1_ENST00000552089.1_Silent_p.A186A|RBFOX1_ENST00000547372.1_Silent_p.A212A|RBFOX1_ENST00000355637.4_Silent_p.A189A			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	169	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GTGCCGATGCGGACAGGGCGA	0.428000													28	52					5.8336e-16	1.0733e-15	0.003271	1	0
FDFT1	2222	broad.mit.edu	37	8	11687842	11687842	+	Silent	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:11687842C>G	ENST00000220584.4	+	6	1014	c.792C>G	c.(790-792)acC>acG	p.T264T	FDFT1_ENST00000525777.1_Silent_p.T179T|FDFT1_ENST00000525900.1_Silent_p.T257T|FDFT1_ENST00000538689.1_Silent_p.T153T|FDFT1_ENST00000528812.1_Silent_p.T200T|FDFT1_ENST00000443614.2_Silent_p.T221T|FDFT1_ENST00000528643.1_Silent_p.T179T|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000530664.1_Silent_p.T200T	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	264					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		AACTTATAACCAATGCACTGC	0.463000													29	62					0	0	0.001786	0	0
DLG1	1739	broad.mit.edu	37	3	196842896	196842896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:196842896C>A	ENST00000346964.2	-	14	1633	c.1444G>T	c.(1444-1446)Gga>Tga	p.G482*	DLG1_ENST00000452595.1_Nonsense_Mutation_p.G366*|DLG1_ENST00000450955.1_Nonsense_Mutation_p.G449*|DLG1_ENST00000448528.2_Nonsense_Mutation_p.G482*|DLG1_ENST00000314062.3_Nonsense_Mutation_p.G431*|DLG1_ENST00000392382.2_Nonsense_Mutation_p.G449*|DLG1_ENST00000357674.4_Nonsense_Mutation_p.G449*|DLG1_ENST00000419354.1_Nonsense_Mutation_p.G482*|DLG1_ENST00000422288.1_Nonsense_Mutation_p.G431*|DLG1_ENST00000443183.1_Nonsense_Mutation_p.G366*	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	482	PDZ 3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCTTCTCCTCCTACAATGTTG	0.373000													108	15					1.81142e-54	4.20114e-54	0.003610	1	0
LAMA1	284217	broad.mit.edu	37	18	7044817	7044817	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:7044817G>A	ENST00000389658.3	-	7	973	c.880C>T	c.(880-882)Cat>Tat	p.H294Y		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	294	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAGTATTATGCTCACATTGA	0.448000													67	59					0	0	0.003610	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363101	22363101	+	Silent	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:22363101G>C	ENST00000263160.3	+	2	551	c.114G>C	c.(112-114)ggG>ggC	p.G38G		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	38					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AAGACACCGGGGAGACAATCG	0.642000													13	63					0	0	0.004007	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219636	42219636	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:42219636C>A	ENST00000221992.6	+	4	885	c.771C>A	c.(769-771)ctC>ctA	p.L257L	CEACAM5_ENST00000398599.4_Silent_p.L257L|CEACAM5_ENST00000405816.1_Silent_p.L257L|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	257	Ig-like 3.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ATCTGAACCTCTCCTGCCACG	0.498000													19	23					5.3912e-06	7.65303e-06	0.006122	1	0
LRP4	4038	broad.mit.edu	37	11	46898090	46898090	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:46898090C>A	ENST00000378623.1	-	25	3705	c.3463G>T	c.(3463-3465)Ggg>Tgg	p.G1155W		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1155					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)		CGCATGGACCCGTCCAGGTTG	0.572000													62	47					5.82218e-30	1.26703e-29	0.003610	1	0
OR2A25	392138	broad.mit.edu	37	7	143771704	143771704	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:143771704A>G	ENST00000408898.2	+	1	430	c.392A>G	c.(391-393)tAt>tGt	p.Y131C		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CCTCTCCGATATTCTACCATC	0.463000													145	23					0	0	0.003610	0	0
RNF128	79589	broad.mit.edu	37	X	106033448	106033448	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:106033448G>T	ENST00000255499.2	+	5	1170	c.920G>T	c.(919-921)tGg>tTg	p.W307L	RNF128_ENST00000324342.3_Missense_Mutation_p.W281L	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	307						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GTTGACCCATGGCTGTTAGAA	0.318000													40	16					4.65455e-14	8.13929e-14	0.003610	1	0
MUC2	4583	broad.mit.edu	37	11	1093613	1093613	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:1093613C>T	ENST00000441003.2	+	30	5459	c.5432C>T	c.(5431-5433)cCa>cTa	p.P1811L	MUC2_ENST00000333592.6_Missense_Mutation_p.P99L|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.1767_1767insL	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1807						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACACAGACCCCAACCATGATA	0.607000													26	18					0	0	0.003954	0	0
MRPL50	54534	broad.mit.edu	37	9	104152812	104152812	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:104152812G>A	ENST00000374865.4	-	2	434	c.413C>T	c.(412-414)tCt>tTt	p.S138F	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	138						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATCAAATTTAGATCTATCTTG	0.408000													86	16					0	0	0.003610	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33577051	33577051	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:33577051G>C	ENST00000504830.1	-	19	3415	c.3080C>G	c.(3079-3081)tCc>tGc	p.S1027C	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S942C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1027	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTGGGCCTGGATGTAGGTGG	0.527000										HNSCC(64;0.19)			31	85					0	0	0.008361	0	0
FAT3	120114	broad.mit.edu	37	11	92615986	92615986	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:92615986T>A	ENST00000298047.6	+	23	12381	c.12364T>A	c.(12364-12366)Tgc>Agc	p.C4122S	FAT3_ENST00000409404.2_Missense_Mutation_p.C4122S|FAT3_ENST00000533797.1_Missense_Mutation_p.C457S|FAT3_ENST00000525166.1_Missense_Mutation_p.C3972S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4122	EGF-like 4; calcium-binding (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTCCTTCCTCTGCAACTGCAC	0.627000										TCGA Ovarian(4;0.039)			5	11					0	0	0.000602	0	0
LRRC4	64101	broad.mit.edu	37	7	127670199	127670199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:127670199G>T	ENST00000249363.3	-	2	752	c.495C>A	c.(493-495)taC>taA	p.Y165*	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	165						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGTTGAAGGCGTAAGAGGGGA	0.572000													96	11					1.70128e-39	3.84638e-39	0.003610	1	0
FAT3	120114	broad.mit.edu	37	11	92577662	92577662	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:92577662G>T	ENST00000298047.6	+	18	11146	c.11129G>T	c.(11128-11130)aGc>aTc	p.S3710I	FAT3_ENST00000409404.2_Missense_Mutation_p.S3710I|FAT3_ENST00000533797.1_Missense_Mutation_p.S45I|FAT3_ENST00000525166.1_Missense_Mutation_p.S3560I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3710					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGCACAGCAGCGAGTTCTAC	0.552000										TCGA Ovarian(4;0.039)			6	18					1.6384e-10	2.6624e-10	0.001984	1	0
PSTK	118672	broad.mit.edu	37	10	124740202	124740202	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:124740202G>A	ENST00000405485.1	+	1	273	c.207G>A	c.(205-207)gcG>gcA	p.A69A	PSTK_ENST00000368887.3_Silent_p.A69A			Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	69							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		GGGCAAGAGCGCGACCGGCGG	0.771000											OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	9					0	0	0.001168	0	0
TMC2	117532	broad.mit.edu	37	20	2597940	2597940	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:2597940T>A	ENST00000358864.1	+	16	2178	c.2163T>A	c.(2161-2163)ttT>ttA	p.F721L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	721						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CACCCTCCTTTGACTGCGGGC	0.632000													5	59					0	0	0.000602	0	0
SHROOM3	57619	broad.mit.edu	37	4	77700208	77700208	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:77700208C>T	ENST00000296043.6	+	11	6822	c.5869C>T	c.(5869-5871)Ccc>Tcc	p.P1957S	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1957	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGAGAGCCTGCCCTCAGATTT	0.562000													53	18					0	0	0.003610	0	0
FAM110C	642273	broad.mit.edu	37	2	45522	45522	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:45522C>T	ENST00000327669.4	-	1	863	c.864G>A	c.(862-864)gaG>gaA	p.E288E		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	288						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GGGCGTTCCTCTCGATGACCG	0.657000													9	52					0	0	0.008291	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42159463	42159463	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:42159463G>T	ENST00000444063.1	+	8	1080	c.948G>T	c.(946-948)tgG>tgT	p.W316C	L3MBTL1_ENST00000427442.2_Missense_Mutation_p.W384C|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.W316C|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.W316C|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.W384C			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	316					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						AGTTCAGCTGGAGCCAGTACC	0.622000													16	33					3.41278e-10	5.52759e-10	0.004990	1	0
SNTG1	54212	broad.mit.edu	37	8	51705364	51705364	+	Missense_Mutation	SNP	C	C	A	rs149567485		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:51705364C>A	ENST00000522124.1	+	19	2190	c.1529C>A	c.(1528-1530)aCg>aAg	p.T510K	SNTG1_ENST00000276467.5_Missense_Mutation_p.T473K|SNTG1_ENST00000517473.1_Missense_Mutation_p.T473K|SNTG1_ENST00000518864.1_Missense_Mutation_p.T510K	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	510					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCTGCTACCACGAGCAAAGCA	0.433000													84	116					1.17611e-34	2.61123e-34	0.003610	1	0
ADCK4	79934	broad.mit.edu	37	19	41220260	41220260	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:41220260C>A	ENST00000324464.3	-	3	446	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	ADCK4_ENST00000450541.1_Missense_Mutation_p.G49W|ADCK4_ENST00000243583.6_Missense_Mutation_p.G49W	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	49						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CTCCCAGGCCCATCCTGGTAA	0.602000													19	31					1.33834e-09	2.12585e-09	0.007413	1	0
SRBD1	55133	broad.mit.edu	37	2	45778282	45778282	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:45778282C>T	ENST00000263736.4	-	12	1719	c.1657G>A	c.(1657-1659)Gct>Act	p.A553T	SRBD1_ENST00000535761.1_Missense_Mutation_p.A72T	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	553					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GAAATTATAGCTAATTTGCAA	0.393000													21	32					0	0	0.003330	0	0
CIT	11113	broad.mit.edu	37	12	120295395	120295395	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:120295395C>A	ENST00000392521.2	-	4	401	c.346G>T	c.(346-348)Gag>Tag	p.E116*	CIT_ENST00000261833.7_Nonsense_Mutation_p.E116*	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	116	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GTTGCTTTCTCTCTTACCACC	0.473000													55	156					4.88506e-25	1.01183e-24	0.003610	1	0
OR4C15	81309	broad.mit.edu	37	11	55321937	55321937	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55321937T>A	ENST00000314644.2	+	1	155	c.155T>A	c.(154-156)tTg>tAg	p.L52*		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATCTTTTCCTTGGGAAACATG	0.353000										HNSCC(20;0.049)			80	68					0	0	0.003610	0	0
PLCE1	51196	broad.mit.edu	37	10	96005999	96005999	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:96005999C>A	ENST00000260766.3	+	8	3351	c.2717C>A	c.(2716-2718)gCa>gAa	p.A906E	PLCE1_ENST00000371375.1_Missense_Mutation_p.A598E|PLCE1_ENST00000371380.2_Missense_Mutation_p.A906E|PLCE1_ENST00000371385.3_Missense_Mutation_p.A598E	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	906					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGCAGTAAAGCAAAACTTGGT	0.512000													18	35					0.000566183	0.000752879	0.004990	1	0
KCNC1	3746	broad.mit.edu	37	11	17758089	17758089	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:17758089C>T	ENST00000379472.3	+	1	570	c.540C>T	c.(538-540)ttC>ttT	p.F180F	KCNC1_ENST00000265969.6_Silent_p.F180F	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	180						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GGGCGCTCTTCGAGGACCCGT	0.687000													8	6					0	0	0.003080	0	0
MIR485	574436	broad.mit.edu	37	14	101521780	101521780	+	RNA	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:101521780G>T	ENST00000385292.2	+	0	43					NR_030160.1																						TGGCCGTGATGAATTCGATTC	0.537000													17	111					1.56452e-12	2.62883e-12	0.007413	1	0
TP53	7157	broad.mit.edu	37	17	7577129	7577129	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:7577129A>C	ENST00000420246.2	-	8	941	c.809T>G	c.(808-810)tTt>tGt	p.F270C	TP53_ENST00000445888.2_Missense_Mutation_p.F270C|TP53_ENST00000455263.2_Missense_Mutation_p.F270C|TP53_ENST00000359597.4_Missense_Mutation_p.F270C|TP53_ENST00000269305.4_Missense_Mutation_p.F270C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	270	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACGCACCTCAAAGCTGTTCCG	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			10	6					0	0	0.006214	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530665	84530665	+	RNA	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:84530665C>A	ENST00000527857.1	+	0	687					NR_026851.1																						GAGGGACCCTCTGCCACCACA	0.542000													131	26					2.31934e-59	5.39178e-59	0.003610	1	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315800	73315800	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:73315800C>A	ENST00000258098.6	-	3	1186	c.946G>T	c.(946-948)Gct>Tct	p.A316S	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	316					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CGAGGAGGAGCCACTCGCATC	0.592000													9	8					1.12685e-05	1.58143e-05	0.004482	1	0
TNR	7143	broad.mit.edu	37	1	175372638	175372638	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:175372638G>C	ENST00000367674.1	-	4	1322	c.614C>G	c.(613-615)cCg>cGg	p.P205R	TNR_ENST00000263525.2_Missense_Mutation_p.P205R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	205	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCAACCCAGCGGGCAGTAGGG	0.597000													58	103					0	0	0.003610	0	0
CCL21	6366	broad.mit.edu	37	9	34709603	34709603	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:34709603G>T	ENST00000259607.2	-	3	322	c.265C>A	c.(265-267)Cat>Aat	p.H89N	CCL21_ENST00000378792.1_Missense_Mutation_p.H89N	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	89					activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	extracellular space	CCR7 chemokine receptor binding|chemokine activity			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TTGTCCAGATGCTGCATCAGC	0.607000													34	32					1.99505e-19	3.89548e-19	0.002445	1	0
USP19	10869	broad.mit.edu	37	3	49149022	49149022	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:49149022C>G	ENST00000453664.1	-	21	3410	c.3092G>C	c.(3091-3093)aGc>aCc	p.S1031T	USP19_ENST00000417901.1_Missense_Mutation_p.S1043T|USP19_ENST00000398892.3_Missense_Mutation_p.S980T|USP19_ENST00000434032.2_Missense_Mutation_p.S1041T|USP19_ENST00000398888.2_Missense_Mutation_p.S940T|USP19_ENST00000398896.1_Missense_Mutation_p.S748T|USP19_ENST00000398898.2_Missense_Mutation_p.S980T	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	940					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCACTGGTGCTGGGCACAGG	0.642000													26	4					0	0	0.003954	0	0
SORL1	6653	broad.mit.edu	37	11	121477927	121477927	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:121477927G>T	ENST00000260197.7	+	37	5223	c.5094G>T	c.(5092-5094)tgG>tgT	p.W1698C	SORL1_ENST00000532694.1_Missense_Mutation_p.W544C|SORL1_ENST00000534286.1_Missense_Mutation_p.W608C|SORL1_ENST00000525532.1_Missense_Mutation_p.W642C|SORL1_ENST00000527934.1_Missense_Mutation_p.W313C	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1698	Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCAAGATGTGGGCCTCCCAGA	0.448000													16	12					4.35082e-09	6.81237e-09	0.001523	1	0
OR4N5	390437	broad.mit.edu	37	14	20612807	20612807	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:20612807C>A	ENST00000333629.1	+	1	913	c.913C>A	c.(913-915)Cat>Aat	p.H305N		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GTTAAGTCAACATATGTTTTG	0.373000													53	26					6.18754e-15	1.11151e-14	0.003610	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55062969	55062969	+	RNA	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55062969T>A	ENST00000526016.1	-	0	668					NR_038174.2																						TATGGCACATTTTCTTCAGAT	0.443000													10	27					0	0	0.006214	0	0
BCAS3	54828	broad.mit.edu	37	17	58987935	58987935	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:58987935C>G	ENST00000589222.1	+	12	933	c.865C>G	c.(865-867)Cag>Gag	p.Q289E	BCAS3_ENST00000588462.1_Missense_Mutation_p.Q289E|BCAS3_ENST00000408905.3_Missense_Mutation_p.Q289E|BCAS3_ENST00000585744.1_Missense_Mutation_p.Q60E|BCAS3_ENST00000588874.1_Missense_Mutation_p.Q60E|BCAS3_ENST00000390652.5_Missense_Mutation_p.Q289E|BCAS3_ENST00000407086.3_Missense_Mutation_p.Q289E			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	289						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGTGGTGACTCAGCTGACAGG	0.443000													19	53					0	0	0.007413	0	0
SHC4	399694	broad.mit.edu	37	15	49255113	49255113	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:49255113G>T	ENST00000332408.4	-	1	528	c.100C>A	c.(100-102)Cgg>Agg	p.R34R		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	34	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GACTCGTTCCGAAAGCGGCTG	0.652000													23	22					4.26978e-12	7.13797e-12	0.003330	1	0
TTN	7273	broad.mit.edu	37	2	179463660	179463660	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179463660G>C	ENST00000589042.1	-	291	57001	c.56777C>G	c.(56776-56778)aCc>aGc	p.T18926S	TTN_ENST00000342992.6_Missense_Mutation_p.T16358S|TTN_ENST00000460472.2_Missense_Mutation_p.T9861S|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T9986S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T17285S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T10053S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17285							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGAAGTGGTGTCTTTCAT	0.453000													10	35					0	0	0.001368	0	0
CNR1	1268	broad.mit.edu	37	6	88854814	88854814	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:88854814C>G	ENST00000537554.1	-	2	3742	c.180G>C	c.(178-180)gaG>gaC	p.E60D	CNR1_ENST00000535130.1_Missense_Mutation_p.E60D|CNR1_ENST00000369501.2_Missense_Mutation_p.E60D|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000468898.1_Missense_Mutation_p.E27D|CNR1_ENST00000549890.1_Missense_Mutation_p.E60D|CNR1_ENST00000369499.2_Missense_Mutation_p.E60D|CNR1_ENST00000428600.2_Missense_Mutation_p.E60D|CNR1_ENST00000549716.1_Intron	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	60					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CAGTCATCTTCTCTTGGAAGG	0.463000													17	17					0	0	0.004990	0	0
ZNF543	125919	broad.mit.edu	37	19	57839116	57839116	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:57839116C>G	ENST00000321545.4	+	4	631	c.286C>G	c.(286-288)Ctg>Gtg	p.L96V		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTTTTCTCACCTGGCCTTGCC	0.458000													16	55					0	0	0.003163	0	0
FAT3	120114	broad.mit.edu	37	11	92533545	92533545	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:92533545C>A	ENST00000298047.6	+	9	7383	c.7366C>A	c.(7366-7368)Cat>Aat	p.H2456N	FAT3_ENST00000409404.2_Missense_Mutation_p.H2456N|FAT3_ENST00000525166.1_Missense_Mutation_p.H2306N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2456	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTGTCCAACCATCGGAAGCA	0.493000										TCGA Ovarian(4;0.039)			34	33					8.4185e-14	1.45157e-13	0.002445	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33565256	33565256	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:33565256T>G	ENST00000321505.4	+	1	1436	c.1256T>G	c.(1255-1257)tTg>tGg	p.L419W	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.L419W|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.L419W					KIAA1549-like																		ATATCTGGCTTGCAGCAGCAA	0.398000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	47					0	0	0.006214	0	0
KCTD18	130535	broad.mit.edu	37	2	201363800	201363800	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:201363800G>T	ENST00000359878.3	-	4	890	c.380C>A	c.(379-381)aCa>aAa	p.T127K	KCTD18_ENST00000409157.1_Missense_Mutation_p.T127K|KCTD18_ENST00000468413.1_5'UTR	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	127						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ACAGAAGTCTGTTAAAGCCTA	0.308000													25	79					2.39556e-15	4.35878e-15	0.002780	1	0
MAGEC3	139081	broad.mit.edu	37	X	140969201	140969201	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:140969201C>T	ENST00000298296.1	+	4	528	c.528C>T	c.(526-528)agC>agT	p.S176S	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	176										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAGAGAGCGAGCCCTTGT	0.473000													35	10					0	0	0.003755	0	0
HGF	3082	broad.mit.edu	37	7	81392114	81392114	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:81392114G>T	ENST00000222390.5	-	2	389	c.163C>A	c.(163-165)Cca>Aca	p.P55T	HGF_ENST00000453018.1_5'UTR|HGF_ENST00000444829.2_Missense_Mutation_p.P55T|HGF_ENST00000423064.2_Missense_Mutation_p.P55T|HGF_ENST00000453411.1_Missense_Mutation_p.P55T|HGF_ENST00000457544.2_Missense_Mutation_p.P55T|HGF_ENST00000354224.6_Missense_Mutation_p.P55T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	55	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTCAGTGCTGGATCTATTTTG	0.308000													19	42					2.4624e-09	3.89879e-09	0.008871	1	0
CPNE4	131034	broad.mit.edu	37	3	131442447	131442447	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:131442447C>G	ENST00000512055.1	-	7	2329	c.203G>C	c.(202-204)cGc>cCc	p.R68P	CPNE4_ENST00000502818.1_Missense_Mutation_p.R86P|CPNE4_ENST00000512332.1_Missense_Mutation_p.R86P|CPNE4_ENST00000429747.1_Missense_Mutation_p.R68P|CPNE4_ENST00000511604.1_Missense_Mutation_p.R68P			Q96A23	CPNE4_HUMAN	copine IV	68	C2 1.							p.R68H(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TATGCAGGTGCGAATCACCTC	0.428000													30	92					0	0	0.002096	0	0
NLRP2	55655	broad.mit.edu	37	19	55501966	55501966	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:55501966C>G	ENST00000543010.1	+	10	2777	c.2634C>G	c.(2632-2634)aaC>aaG	p.N878K	NLRP2_ENST00000263437.6_Missense_Mutation_p.N875K|NLRP2_ENST00000391721.4_Missense_Mutation_p.N854K|NLRP2_ENST00000427260.2_Missense_Mutation_p.N855K|NLRP2_ENST00000538819.1_Missense_Mutation_p.N854K|NLRP2_ENST00000339757.7_Missense_Mutation_p.N856K|NLRP2_ENST00000448584.2_Missense_Mutation_p.N878K|NLRP2_ENST00000537859.1_Missense_Mutation_p.N856K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	878					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGGCCAAGAACCCCATTGGGA	0.537000													27	27					0	0	0.007291	0	0
ZG16B	124220	broad.mit.edu	37	16	2880331	2880331	+	Splice_Site	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:2880331T>A	ENST00000382280.3	+	1	160		c.e1+2			NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B							extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						ACAGGCGAGGTAAGGTGCTTG	0.637000													4	6					0	0	0.001168	0	0
NCAM2	4685	broad.mit.edu	37	21	22881243	22881243	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr21:22881243G>C	ENST00000400546.1	+	16	2398	c.2149G>C	c.(2149-2151)Gtg>Ctg	p.V717L	NCAM2_ENST00000284894.7_Missense_Mutation_p.V575L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	717					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCTAATTCTTGTGGTAACAGA	0.423000													30	8					0	0	0.003271	0	0
ZNF595	152687	broad.mit.edu	37	4	59439	59439	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:59439G>T	ENST00000509152.2	+	2	305	c.120G>T	c.(118-120)ctG>ctT	p.L40L	ZNF595_ENST00000526473.2_Silent_p.L40L|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595									p.L40L(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		ACAGGAACCTGGTCTCCCTGG	0.443000													31	422					9.04072e-19	1.75486e-18	0.003271	1	0
RHOJ	57381	broad.mit.edu	37	14	63671684	63671684	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:63671684G>T	ENST00000316754.3	+	1	559	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W	RHOJ_ENST00000555125.1_Missense_Mutation_p.G33W|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	33					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CGGTGCCGTGGGGAAAACCTG	0.547000													30	12					3.90053e-15	7.04519e-15	0.002445	1	0
OR4D11	219986	broad.mit.edu	37	11	59271420	59271420	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:59271420G>T	ENST00000313253.1	+	1	372	c.372G>T	c.(370-372)atG>atT	p.M124I		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						ACTGCTACATGGCCATCTCCA	0.512000													36	108					3.61848e-18	6.91468e-18	0.007835	1	0
ASXL3	80816	broad.mit.edu	37	18	31323231	31323231	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:31323231C>A	ENST00000269197.5	+	12	3419	c.3419C>A	c.(3418-3420)cCa>cAa	p.P1140Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAAGGGCCTCCAAACTTAGAA	0.483000													6	10					0.00198382	0.00258918	0.001984	1	0
FRMPD4	9758	broad.mit.edu	37	X	12516865	12516865	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:12516865C>T	ENST00000380682.1	+	2	614	c.108C>T	c.(106-108)ccC>ccT	p.P36P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	36	WW.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGTGCCGCCCTATGGATGGG	0.512000													22	1					0	0	0.003954	0	0
RAB2B	84932	broad.mit.edu	37	14	21930549	21930549	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:21930549T>G	ENST00000397762.1	-	7	603	c.503A>C	c.(502-504)tAt>tCt	p.Y168S	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	168				Y -> H (in Ref. 1; AAN86142).	protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		GATCTTCCTATATATTTCTTT	0.383000													36	86					0	0	0.007835	0	0
CDC25C	995	broad.mit.edu	37	5	137665288	137665288	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:137665288C>A	ENST00000323760.6	-	3	521	c.243G>T	c.(241-243)gaG>gaT	p.E81D	CDC25C_ENST00000514555.1_Missense_Mutation_p.E81D|CDC25C_ENST00000513970.1_Missense_Mutation_p.E81D|CDC25C_ENST00000357274.3_Intron|CDC25C_ENST00000348983.3_Intron|CDC25C_ENST00000415130.2_Intron|CDC25C_ENST00000356505.3_Missense_Mutation_p.E81D	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	81					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGGCAGTTATCTCCCCACTGC	0.418000													70	22					2.18329e-32	4.8042e-32	0.003610	1	0
TTN	7273	broad.mit.edu	37	2	179650358	179650358	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179650358G>T	ENST00000589042.1	-	15	2706	c.2482C>A	c.(2482-2484)Cat>Aat	p.H828N	TTN_ENST00000342992.6_Missense_Mutation_p.H828N|TTN_ENST00000460472.2_Missense_Mutation_p.H782N|TTN_ENST00000360870.5_Missense_Mutation_p.H828N|TTN_ENST00000359218.5_Missense_Mutation_p.H782N|TTN_ENST00000591111.1_Missense_Mutation_p.H828N|TTN_ENST00000342175.6_Missense_Mutation_p.H782N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	828							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATATCCATGTTCTGTCTTA	0.408000													17	54					3.99206e-14	7.0056e-14	0.007413	1	0
PCSK2	5126	broad.mit.edu	37	20	17462628	17462628	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:17462628G>T	ENST00000262545.2	+	12	2145	c.1830G>T	c.(1828-1830)aaG>aaT	p.K610N	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.K575N|PCSK2_ENST00000377899.1_Missense_Mutation_p.K591N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	610					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCAGTCCAAGTTGGCCATGT	0.582000													7	32					0.00198382	0.00258918	0.001984	1	0
IGF2BP2-AS1	646600	broad.mit.edu	37	3	185434484	185434484	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:185434484C>T	ENST00000296270.1	+	2	453	c.317C>T	c.(316-318)gCc>gTc	p.A106V	IGF2BP2_ENST00000346192.3_Intron|IGF2BP2_ENST00000457616.2_Intron|IGF2BP2_ENST00000421047.2_Intron|IGF2BP2_ENST00000382199.2_Intron																		all_cancers(143;1.5e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTACTCAGGGCCATGGTGGTG	0.547000													20	28					0	0	0.001523	0	0
RP11-192H23.4	0	broad.mit.edu	37	17	26940477	26940477	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:26940477C>G	ENST00000534850.1	-	2	336	c.305G>C	c.(304-306)aGg>aCg	p.R102T	SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000577790.1_Missense_Mutation_p.R101T|SGK494_ENST00000469832.3_5'UTR|SGK494_ENST00000301037.5_Missense_Mutation_p.R102T																endometrium(2)|kidney(2)	4						CTGCTGCCCCCTAATGGGCCT	0.522000											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	62					0	0	0.002450	0	0
TAF1L	138474	broad.mit.edu	37	9	32635372	32635372	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:32635372C>A	ENST00000242310.4	-	1	295	c.206G>T	c.(205-207)gGg>gTg	p.G69V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	69					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCCAAAGCCCCCAAGCCTGC	0.537000													16	51					3.52763e-06	5.02205e-06	0.004990	1	0
MACF1	23499	broad.mit.edu	37	1	39888078	39888078	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:39888078G>A	ENST00000564288.1	+	59	16626	c.15849G>A	c.(15847-15849)caG>caA	p.Q5283Q	MACF1_ENST00000372915.3_Silent_p.Q5288Q|MACF1_ENST00000361689.2_Silent_p.Q3221Q|MACF1_ENST00000539005.1_Silent_p.Q3200Q|MACF1_ENST00000567887.1_Silent_p.Q5320Q|MACF1_ENST00000545844.1_Silent_p.Q3221Q|MACF1_ENST00000317713.7_Silent_p.Q3221Q|MACF1_ENST00000289893.4_Silent_p.Q3723Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5288					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCCTCTTCAGATGAAATTGC	0.398000													35	20					0	0	0.003755	0	0
CA1	759	broad.mit.edu	37	8	86240798	86240798	+	Silent	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:86240798A>T	ENST00000523953.1	-	9	1823	c.777T>A	c.(775-777)gcT>gcA	p.A259A	CA1_ENST00000432364.2_Silent_p.A259A|CA1_ENST00000431316.1_Silent_p.A259A|CA1_ENST00000522389.1_Silent_p.A125A|CA1_ENST00000256119.5_Silent_p.A259A|CA1_ENST00000542576.1_Silent_p.A259A|CA1_ENST00000523022.1_Silent_p.A259A			P00915	CAH1_HUMAN	carbonic anhydrase I	259					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	ATCAAAATGAAGCTCTCACTG	0.408000													15	128					0	0	0.004990	0	0
PEG3	5178	broad.mit.edu	37	19	57328466	57328466	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:57328466C>A	ENST00000326441.9	-	10	1707	c.1344G>T	c.(1342-1344)ggG>ggT	p.G448G	PEG3_ENST00000598410.1_Silent_p.G324G|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.G322G|PEG3_ENST00000423103.2_Silent_p.G448G|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	448					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATGGCATTGCCCCAAAATCAA	0.483000													32	65					1.61788e-16	2.999e-16	0.002445	1	0
TRIML1	339976	broad.mit.edu	37	4	189068142	189068142	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:189068142C>A	ENST00000332517.3	+	6	1163	c.1023C>A	c.(1021-1023)caC>caA	p.H341Q	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	341	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GTGGGAGACACTACTGGGAGG	0.562000													22	13					5.26018e-13	8.99145e-13	0.001882	1	0
SRBD1	55133	broad.mit.edu	37	2	45778281	45778281	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:45778281G>A	ENST00000263736.4	-	12	1720	c.1658C>T	c.(1657-1659)gCt>gTt	p.A553V	SRBD1_ENST00000535761.1_Missense_Mutation_p.A72V	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	553					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGAAATTATAGCTAATTTGCA	0.388000													22	30					0	0	0.003954	0	0
RPL3	6122	broad.mit.edu	37	22	39713540	39713540	+	Silent	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:39713540T>A	ENST00000216146.4	-	3	464	c.291A>T	c.(289-291)cgA>cgT	p.R97R	RPL3_ENST00000401609.1_Silent_p.R45R|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	97					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					TCCGGAGGCCTCGAGGGGTTT	0.532000													35	79					0	0	0.002836	0	0
TTN	7273	broad.mit.edu	37	2	179579280	179579280	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:179579280T>G	ENST00000589042.1	-	91	26445	c.26221A>C	c.(26221-26223)Aag>Cag	p.K8741Q	TTN_ENST00000342992.6_Missense_Mutation_p.K7497Q|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K8424Q|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8424	Ig-like 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACTGAGCTTCTTCACAAAT	0.438000													20	17					0	0	0.002299	0	0
CUZD1	50624	broad.mit.edu	37	10	124593398	124593398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:124593398G>A	ENST00000368904.1	-	10	2390	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	CUZD1_ENST00000545804.1_Nonsense_Mutation_p.Q481*|CUZD1_ENST00000392790.1_Nonsense_Mutation_p.Q481*			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	481	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GCATTAAACTGGAATCTCCCA	0.378000													13	53					0	0	0.001855	0	0
FBXW4	6468	broad.mit.edu	37	10	103427688	103427688	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:103427688T>C	ENST00000331272.7	-	5	1343	c.725A>G	c.(724-726)cAg>cGg	p.Q242R		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	242					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		GTCTTCAGTCTGGATGGTGTG	0.498000													50	38					0	0	0.003610	0	0
MYH11	4629	broad.mit.edu	37	16	15853483	15853483	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:15853483C>T	ENST00000338282.6	-	12	1457	c.1351G>A	c.(1351-1353)Ggg>Agg	p.G451R	MYH11_ENST00000300036.5_Missense_Mutation_p.G451R|MYH11_ENST00000396324.3_Missense_Mutation_p.G458R|MYH11_ENST00000576790.1_Missense_Mutation_p.G451R|MYH11_ENST00000452625.2_Missense_Mutation_p.G458R	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	451	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AAGGAAGCCCCTTGCCGATGG	0.532000			T	CBFB	AML								20	59					0	0	0.008871	0	0
PIPSL	266971	broad.mit.edu	37	10	95719309	95719309	+	RNA	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:95719309G>C	ENST00000480546.1	-	0	1988					NR_002319.2																						CCTTCTTGAGGCATTTAGCCA	0.443000													7	28					0	0	0.004482	0	0
LRP1B	53353	broad.mit.edu	37	2	141643783	141643783	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:141643783G>A	ENST00000389484.3	-	24	4859	c.3888C>T	c.(3886-3888)caC>caT	p.H1296H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1296					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTGATTGAAGTGAAAATCAA	0.333000										TSP Lung(27;0.18)			11	28					0	0	0.002450	0	0
LCN8	138307	broad.mit.edu	37	9	139650984	139650984	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:139650984G>T	ENST00000371688.3	-	3	511	c.216C>A	c.(214-216)ttC>ttA	p.F72L	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	95					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		CAGGAAAAGCGAATTTTCCCG	0.517000													61	81					5.10652e-33	1.13122e-32	0.003610	1	0
KRTAP9-2	83899	broad.mit.edu	37	17	39383101	39383101	+	Silent	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:39383101C>G	ENST00000377721.3	+	1	202	c.195C>G	c.(193-195)acC>acG	p.T65T	KRTAP9-2_ENST00000455970.2_Silent_p.T65T	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	65	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTAGGACCACCTGCTGCCAGC	0.652000													46	45					0	0	0.003610	0	0
OR4C15	81309	broad.mit.edu	37	11	55322888	55322888	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55322888A>C	ENST00000314644.2	+	1	1106	c.1106A>C	c.(1105-1107)aAa>aCa	p.K369T		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GAAAATATTAAACTTTAAAAA	0.308000										HNSCC(20;0.049)			8	18					0	0	0.003080	0	0
WNT6	7475	broad.mit.edu	37	2	219736268	219736268	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:219736268G>T	ENST00000233948.3	+	3	580	c.363G>T	c.(361-363)acG>acT	p.T121T	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	121					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGCCGTCACGCAGGCCTGTT	0.741000													4	7					5.16669e-11	8.46548e-11	0.000978	1	0
LRRC37A3	374819	broad.mit.edu	37	17	62856235	62856235	+	Silent	SNP	C	C	T	rs143516328	by1000genomes	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:62856235C>T	ENST00000584306.1	-	11	4559	c.4029G>A	c.(4027-4029)ccG>ccA	p.P1343P	LRRC37A3_ENST00000400877.3_Silent_p.P381P|LRRC37A3_ENST00000319651.5_Silent_p.P1343P|LRRC37A3_ENST00000339474.5_Silent_p.P461P|LRRC37A3_ENST00000334962.5_Silent_p.P320P	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1343						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTGCAGAGAACGGAAGCCTGT	0.463000													36	135					0	0	0.004289	0	0
POM121L12	285877	broad.mit.edu	37	7	53103817	53103817	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:53103817G>T	ENST00000408890.4	+	1	469	c.453G>T	c.(451-453)tgG>tgT	p.W151C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	151								p.W151C(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGAGCCCCTGGAGATCCCCTG	0.716000													9	16					2.17888e-05	3.03202e-05	0.006214	1	0
ARHGAP20	57569	broad.mit.edu	37	11	110561301	110561301	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:110561301C>G	ENST00000260283.4	-	3	441	c.157G>C	c.(157-159)Gat>Cat	p.D53H	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.D17H|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.D27H|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.D27H|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.D30H|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.D17H	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	53					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AGGGCTTTATCCAGGATAAGA	0.398000													24	56					0	0	0.002780	0	0
CHST5	23563	broad.mit.edu	37	16	75563627	75563627	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:75563627A>G	ENST00000336257.3	-	3	2050	c.656T>C	c.(655-657)aTc>aCc	p.I219T	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.I225T	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	219					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CAGGTGCACGATGCGCAGGTT	0.706000													21	37					0	0	0.001523	0	0
PTPRO	5800	broad.mit.edu	37	12	15637129	15637129	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:15637129G>T	ENST00000281171.4	+	2	627	c.297G>T	c.(295-297)gtG>gtT	p.V99V	PTPRO_ENST00000543886.1_Silent_p.V99V|PTPRO_ENST00000348962.2_Silent_p.V99V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	99	Fibronectin type-III 1.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CTCTGGTAGTGGTAAATGGAA	0.383000													18	7					9.16793e-09	1.41089e-08	0.004990	1	0
ARHGAP24	83478	broad.mit.edu	37	4	86921657	86921657	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:86921657G>A	ENST00000395184.1	+	10	2495	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.E584K|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.E582K	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	677					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CTTGACTTTGGAAACAGAAAT	0.423000													30	12					0	0	0.002096	0	0
RP1L1	94137	broad.mit.edu	37	8	10465782	10465782	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:10465782C>A	ENST00000382483.3	-	4	6049	c.5826G>T	c.(5824-5826)gaG>gaT	p.E1942D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1942					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTCTTCTGCCTCTTGGGCCT	0.602000													79	85					1.91123e-38	4.30135e-38	0.003610	1	0
C16orf62	57020	broad.mit.edu	37	16	19644488	19644488	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:19644488C>T	ENST00000438132.3	+	19	1944	c.1896C>T	c.(1894-1896)taC>taT	p.Y632Y	C16orf62_ENST00000543152.1_Silent_p.Y292Y|C16orf62_ENST00000542263.1_Silent_p.Y565Y|C16orf62_ENST00000448695.1_Silent_p.Y393Y|C16orf62_ENST00000251143.5_Silent_p.Y543Y|C16orf62_ENST00000417362.2_Silent_p.Y476Y	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	543						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AAGATTCCTACCCCCAGGTAA	0.408000													30	59					0	0	0.002836	0	0
SAFB2	9667	broad.mit.edu	37	19	5610692	5610692	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:5610692T>G	ENST00000252542.4	-	8	1417	c.1153A>C	c.(1153-1155)Aag>Cag	p.K385Q		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TTTTCTTCCTTAAAAGAGCTA	0.323000													10	9					0	0	0.006214	0	0
FAM73B	84895	broad.mit.edu	37	9	131802959	131802959	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:131802959C>T	ENST00000277475.5	+	2	272	c.86C>T	c.(85-87)aCg>aTg	p.T29M	FAM73B_ENST00000358369.4_Missense_Mutation_p.T29M|FAM73B_ENST00000406926.2_Missense_Mutation_p.T29M|FAM73B_ENST00000474534.1_3'UTR			Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	29						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CTGTACACGACGTTTGGGCAG	0.617000													8	21					0	0	0.006214	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120352	46120352	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:46120352T>A	ENST00000355105.3	-	6	1700	c.340A>T	c.(340-342)Aca>Tca	p.T114S	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.T114S	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TGGTTCCCTGTGCCACCTCCA	0.512000													33	16					0	0	0.003271	0	0
FKBP9L	360132	broad.mit.edu	37	7	55755564	55755564	+	RNA	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:55755564A>T	ENST00000455909.1	-	0	442					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						GTCCATCCCCAACACAACTTG	0.507000													21	62					0	0	0.001882	0	0
CACNA1E	777	broad.mit.edu	37	1	181724430	181724430	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:181724430T>C	ENST00000526775.1	+	27	3994	c.3829T>C	c.(3829-3831)Tac>Cac	p.Y1277H	CACNA1E_ENST00000367573.2_Missense_Mutation_p.Y1296H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Y1296H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Y1228H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Y1277H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Y1247H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Y903H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1296					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.Y1296H(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTCATTGTGTACAAGCTCTT	0.478000													27	101					0	0	0.005443	0	0
OR5D16	390144	broad.mit.edu	37	11	55607040	55607040	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55607040C>T	ENST00000378396.1	+	1	813	c.813C>T	c.(811-813)caC>caT	p.H271H		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACTCCAGGCACACAGTCAAAG	0.488000													17	45					0	0	0.004007	0	0
CD36	948	broad.mit.edu	37	7	80286010	80286010	+	Missense_Mutation	SNP	C	C	T	rs150037612	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:80286010C>T	ENST00000435819.1	+	7	959	c.275C>T	c.(274-276)aCg>aTg	p.T92M	CD36_ENST00000432207.1_Missense_Mutation_p.T92M|CD36_ENST00000394788.3_Missense_Mutation_p.T92M|CD36_ENST00000538969.1_Missense_Mutation_p.T92M|CD36_ENST00000534394.1_Missense_Mutation_p.T16M|CD36_ENST00000309881.7_Missense_Mutation_p.T92M|CD36_ENST00000433696.2_Missense_Mutation_p.T92M|CD36_ENST00000544133.1_Missense_Mutation_p.T92M|CD36_ENST00000447544.2_Missense_Mutation_p.T92M			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	92					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GGTCCTTATACGTACAGGTGA	0.388000													23	63					0	0	0.002780	0	0
CNTN1	1272	broad.mit.edu	37	12	41323651	41323651	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:41323651G>T	ENST00000551295.2	+	7	667	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	CNTN1_ENST00000547702.1_Missense_Mutation_p.D184Y|CNTN1_ENST00000547849.1_Missense_Mutation_p.D184Y|CNTN1_ENST00000348761.2_Missense_Mutation_p.D173Y|CNTN1_ENST00000347616.1_Missense_Mutation_p.D184Y|CNTN1_ENST00000360099.3_Missense_Mutation_p.D184Y	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	184	Ig-like C2-type 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TATCACAATGGATAAACGGCG	0.383000													29	82					4.87955e-14	8.47276e-14	0.005443	1	0
SLIT3	6586	broad.mit.edu	37	5	168233555	168233555	+	Silent	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:168233555G>C	ENST00000519560.1	-	9	1250	c.831C>G	c.(829-831)tcC>tcG	p.S277S	SLIT3_ENST00000332966.8_Silent_p.S277S|SLIT3_ENST00000404867.3_Silent_p.S277S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	277	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCAGGAGATGGAGTTGGCAT	0.587000													49	16					0	0	0.003610	0	0
KIF5A	3798	broad.mit.edu	37	12	57970645	57970645	+	Splice_Site	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:57970645C>A	ENST00000455537.2	+	20	2574	c.2300_splice	c.e20+1	p.T767_splice	KIF5A_ENST00000286452.5_Splice_Site_p.T678_splice	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	767					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAGGAGCTGACGTGAGTGGCA	0.493000													15	23					0.000308642	0.000413756	0.003163	1	0
ACTN2	88	broad.mit.edu	37	1	236925788	236925788	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:236925788C>T	ENST00000366578.4	+	21	2720	c.2554C>T	c.(2554-2556)Cgg>Tgg	p.R852W	ACTN2_ENST00000542672.1_Missense_Mutation_p.R852W|ACTN2_ENST00000546208.1_Missense_Mutation_p.R346W	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	852					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.R852W(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGAGCTGCGTCGGGAGCTGCC	0.547000													26	38					0	0	0.005443	0	0
IGHV4-28	28400	broad.mit.edu	37	14	106780624	106780624	+	RNA	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:106780624G>T	ENST00000390612.2	-	0	311																											TGAGGGACGGGTTGTAGTAGG	0.562000													18	457					9.5628e-27	2.03622e-26	0.003610	1	0
ZNF132	7691	broad.mit.edu	37	19	58945522	58945522	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:58945522G>T	ENST00000254166.3	-	3	1689	c.1289C>A	c.(1288-1290)cCg>cAg	p.P430Q		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	430						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GCATTCATACGGTCTTTCTCC	0.468000													52	40					5.13769e-22	1.03593e-21	0.003610	1	0
LASP1	3927	broad.mit.edu	37	17	37070622	37070622	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:37070622C>G	ENST00000318008.6	+	5	733	c.402C>G	c.(400-402)agC>agG	p.S134R	LASP1_ENST00000435347.3_Missense_Mutation_p.S134R|LASP1_ENST00000433206.2_Missense_Mutation_p.S78R	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	134						cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						TGGGCCCTAGCGGGGGCGAGG	0.612000			T	MLL	AML								12	6					0	0	0.003163	0	0
FLG	2312	broad.mit.edu	37	1	152278628	152278628	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:152278628A>C	ENST00000368799.1	-	3	8769	c.8734T>G	c.(8734-8736)Tcc>Gcc	p.S2912A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2912	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)			TGGTTTCTGGAAGCAGACCCA	0.567000									Ichthyosis				43	301					0	0	0.003610	0	0
NOVA1	4857	broad.mit.edu	37	14	26917495	26917495	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:26917495A>G	ENST00000539517.2	-	5	1511	c.1194T>C	c.(1192-1194)taT>taC	p.Y398Y	NOVA1_ENST00000267422.7_Silent_p.Y276Y|NOVA1_ENST00000465357.2_Silent_p.Y374Y	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	401	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CAGCTCCAAAATATCCATTGG	0.517000													11	44					0	0	0.000978	0	0
CRYGC	1420	broad.mit.edu	37	2	208992948	208992948	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:208992948C>A	ENST00000282141.3	-	3	541	c.504G>T	c.(502-504)cgG>cgT	p.R168R		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	168	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CCACCACTCTCCGCAAAGAGC	0.502000													53	217					7.89702e-26	1.65653e-25	0.003610	1	0
ZFYVE20	64145	broad.mit.edu	37	3	15124018	15124018	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:15124018G>A	ENST00000253699.3	-	9	1309	c.696C>T	c.(694-696)agC>agT	p.S232S	ZFYVE20_ENST00000476527.2_Silent_p.S232S|ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000449964.2_Intron	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	232	Necessary for the correct targeting to endosomes.|Ser-rich.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TGCTCATGCTGCTGATGCTGC	0.607000													32	13					0	0	0.002836	0	0
UST	10090	broad.mit.edu	37	6	149340274	149340274	+	Splice_Site	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:149340274G>A	ENST00000367463.4	+	6	784		c.e6-1			NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase						protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		TTCTCTTCTAGGATATCAATG	0.403000													22	45					0	0	0.003330	0	0
TSKU	25987	broad.mit.edu	37	11	76507537	76507537	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:76507537C>G	ENST00000527881.1	+	2	1903	c.877C>G	c.(877-879)Ccc>Gcc	p.P293A	TSKU_ENST00000333090.4_Missense_Mutation_p.P293A			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	293						extracellular region		p.P293A(1)		NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CAACCTGGTGCCCCTGCCTGA	0.682000													27	20					0	0	0.005443	0	0
SCN8A	6334	broad.mit.edu	37	12	52159490	52159490	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:52159490C>A	ENST00000354534.5	+	16	2758	c.2580C>A	c.(2578-2580)acC>acA	p.T860T	SCN8A_ENST00000545061.1_Silent_p.T860T|SCN8A_ENST00000550891.1_Silent_p.T860T	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	860					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCTGGCCCACCCTGAACATGC	0.438000													14	20					2.32078e-09	3.68047e-09	0.003163	1	0
C8A	731	broad.mit.edu	37	1	57320623	57320623	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:57320623G>T	ENST00000361249.3	+	1	145	c.49G>T	c.(49-51)Ggg>Tgg	p.G17W		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	17					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TTGTCAGCCTGGGGTAACTGC	0.443000													15	3					4.75885e-15	8.57982e-15	0.004990	1	0
KIF26A	26153	broad.mit.edu	37	14	104640563	104640563	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:104640563G>T	ENST00000315264.7	+	10	2070	c.1692G>T	c.(1690-1692)tcG>tcT	p.S564S	KIF26A_ENST00000423312.2_Silent_p.S703S			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	703	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCACGTGTCGGATGCGCCAG	0.682000													10	5					0.000442599	0.000590132	0.006214	1	0
GPR128	84873	broad.mit.edu	37	3	100374024	100374024	+	Splice_Site	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:100374024G>T	ENST00000273352.3	+	12	1993	c.1726_splice	c.e12+1	p.W575_splice	GPR128_ENST00000475887.1_Splice_Site_p.W280_splice|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	575					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TAATTGGATGGGGTAAGTGTT	0.408000													54	10					2.73381e-35	6.08334e-35	0.003610	1	0
OR7G1	125962	broad.mit.edu	37	19	9226437	9226437	+	Translation_Start_Site	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:9226437C>T	ENST00000293614.1	-	1	2	c.3G>A	c.(1-3)atG>atA	p.M1I	OR7G1_ENST00000541538.1_Start_Codon_SNP_p.M1I			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TTCTGGGTCCCATGTTTTTGA	0.418000													40	18					0	0	0.004878	0	0
KANSL1L	151050	broad.mit.edu	37	2	210888902	210888902	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:210888902C>A	ENST00000281772.9	-	14	2851	c.2588G>T	c.(2587-2589)gGa>gTa	p.G863V	KANSL1L_ENST00000418791.1_Missense_Mutation_p.G821V	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	863																	CAAGTCCTGTCCTTCAACATT	0.383000													10	32					0.000673444	0.000889522	0.008291	1	0
PITPNM3	83394	broad.mit.edu	37	17	6364774	6364774	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:6364774C>A	ENST00000262483.8	-	18	2496	c.2409G>T	c.(2407-2409)caG>caT	p.Q803H	ACKR6_ENST00000576664.1_5'UTR|ACKR6_ENST00000421306.3_Missense_Mutation_p.Q767H	NM_031220.3	NP_112497.2																					AGATCATGCCCTGTGGGAAGT	0.607000													76	19					3.00167e-28	6.44707e-28	0.003610	1	0
ITGAV	3685	broad.mit.edu	37	2	187529932	187529932	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:187529932A>G	ENST00000261023.3	+	21	2427	c.2153A>G	c.(2152-2154)aAg>aGg	p.K718R	ITGAV_ENST00000433736.2_Missense_Mutation_p.K672R|ITGAV_ENST00000374907.3_Missense_Mutation_p.K682R|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	718					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		AACCCAATGAAGGCTGGAACT	0.363000													10	267					0	0	0.000978	0	0
RYR1	6261	broad.mit.edu	37	19	38990296	38990296	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:38990296C>G	ENST00000355481.4	+	44	7180	c.7049C>G	c.(7048-7050)gCc>gGc	p.A2350G	RYR1_ENST00000359596.3_Missense_Mutation_p.A2350G|RYR1_ENST00000360985.3_Missense_Mutation_p.A2350G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2350	6 X approximate repeats.		A -> T (in MHS1; reveals an altered calcium dependence and increased caffeine sensitivity).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGGAGAACGCCAATGTGGTG	0.667000													3	17					0	0	0.004672	0	0
CBLB	868	broad.mit.edu	37	3	105412398	105412398	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:105412398T>C	ENST00000264122.4	-	13	2315	c.1994A>G	c.(1993-1995)tAt>tGt	p.Y665C	CBLB_ENST00000405772.1_Missense_Mutation_p.Y665C|CBLB_ENST00000394027.3_Missense_Mutation_p.Y687C|CBLB_ENST00000403724.1_Missense_Mutation_p.Y665C	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	665	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AGGAACATCATATTCTTCACT	0.418000			Mis S		AML								33	6					0	0	0.005524	0	0
OBSCN	84033	broad.mit.edu	37	1	228553830	228553830	+	Silent	SNP	G	G	A	rs74144615	by1000genomes	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:228553830G>A	ENST00000570156.2	+	94	22064	c.21990G>A	c.(21988-21990)acG>acA	p.T7330T	OBSCN_ENST00000366707.4_Silent_p.T4007T|OBSCN_ENST00000422127.1_Silent_p.T6373T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6373					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGCGGAACGGCCCAATTCG	0.637000													25	43					0	0	0.003954	0	0
RYR2	6262	broad.mit.edu	37	1	237880573	237880573	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:237880573G>T	ENST00000366574.2	+	72	10716	c.10399G>T	c.(10399-10401)Gta>Tta	p.V3467L	RYR2_ENST00000360064.6_Missense_Mutation_p.V3465L|RYR2_ENST00000542537.1_Missense_Mutation_p.V3451L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3467					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCTCTGATTGTAGCAGCTCT	0.498000													16	18					2.31682e-05	3.21492e-05	0.003163	1	0
COL6A6	131873	broad.mit.edu	37	3	130282295	130282295	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:130282295G>A	ENST00000358511.6	+	2	479	c.448G>A	c.(448-450)Gca>Aca	p.A150T	COL6A6_ENST00000453409.2_Missense_Mutation_p.A150T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	150	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTGGAAGAGGCATCAAAGGC	0.493000													28	10					0	0	0.006320	0	0
FTHL17	53940	broad.mit.edu	37	X	31089890	31089890	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:31089890C>A	ENST00000359202.3	-	1	280	c.181G>T	c.(181-183)Gac>Tac	p.D61Y		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	61	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						ATTTTGTCGTCCGACAGGCGC	0.577000													29	30					6.04164e-23	1.22822e-22	0.002096	1	0
OR2M3	127062	broad.mit.edu	37	1	248366371	248366371	+	Translation_Start_Site	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:248366371T>C	ENST00000456743.1	+	1	40	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			ATACACATCATGGCAAGGGAG	0.438000													49	87					0	0	0.003610	0	0
C7orf60	154743	broad.mit.edu	37	7	112555399	112555399	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:112555399T>G	ENST00000297145.4	-	2	429	c.264A>C	c.(262-264)aaA>aaC	p.K88N	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	88										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CCTCACAAGTTTTTGCCCAAT	0.348000													81	11					0	0	0.003610	0	0
WDR77	79084	broad.mit.edu	37	1	111983962	111983962	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:111983962G>A	ENST00000235090.5	-	10	1125	c.919C>T	c.(919-921)Ccg>Tcg	p.P307S	WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Missense_Mutation_p.P243S	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	307					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	p.P307>?(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGATTGAGCGGGGACCAAGTC	0.542000													39	53					0	0	0.008740	0	0
DNAH1	25981	broad.mit.edu	37	3	52428648	52428648	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:52428648G>T	ENST00000420323.2	+	67	11055	c.10794G>T	c.(10792-10794)cgG>cgT	p.R3598R		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3663					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGAATTCCGGGTCATCTTCG	0.577000													26	3					4.87955e-14	8.47276e-14	0.005443	1	0
CUEDC1	404093	broad.mit.edu	37	17	55950055	55950055	+	Silent	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:55950055C>G	ENST00000577830.1	-	5	1166	c.753G>C	c.(751-753)cgG>cgC	p.R251R	CUEDC1_ENST00000360238.2_Silent_p.R251R|CUEDC1_ENST00000407144.2_Silent_p.R251R|CUEDC1_ENST00000577840.1_Silent_p.R114R	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	251										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						AGTCGCGGTTCCGTTGCAGCT	0.622000													12	38					0	0	0.001368	0	0
BARX2	8538	broad.mit.edu	37	11	129306860	129306860	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:129306860C>A	ENST00000281437.4	+	2	498	c.402C>A	c.(400-402)cgC>cgA	p.R134R	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	134										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		AGAAGCCCCGCCGGAGTCGCA	0.632000													15	10					0.000422831	0.000566067	0.004007	1	0
SLC6A13	6540	broad.mit.edu	37	12	369210	369210	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:369210G>C	ENST00000343164.4	-	2	61	c.9C>G	c.(7-9)agC>agG	p.S3R	SLC6A13_ENST00000436453.1_Missense_Mutation_p.S3R|SLC6A13_ENST00000445055.2_Missense_Mutation_p.S3R	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	3					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CTGAGACCCTGCTATCCATCC	0.512000													30	141					0	0	0.008361	0	0
SQRDL	58472	broad.mit.edu	37	15	45968317	45968317	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:45968317G>T	ENST00000260324.7	+	6	1059	c.673G>T	c.(673-675)Gcc>Tcc	p.A225S	RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.A225S|SQRDL_ENST00000568606.1_Missense_Mutation_p.A225S	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	225							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GCGATCCAAGGCCAATATCAT	0.418000													49	35					8.72198e-27	1.86119e-26	0.003610	1	0
PCDHB4	56131	broad.mit.edu	37	5	140501789	140501789	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:140501789A>T	ENST00000194152.1	+	1	209	c.209A>T	c.(208-210)gAc>gTc	p.D70V		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		70	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGACGATGACAAGCAGCGT	0.567000													32	9					0	0	0.001786	0	0
PRMT5	10419	broad.mit.edu	37	14	23390185	23390185	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:23390185C>A	ENST00000324366.8	-	17	2065	c.1842G>T	c.(1840-1842)gaG>gaT	p.E614D	PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.E570D|PRMT5_ENST00000216350.8_Missense_Mutation_p.E553D|PRMT5_ENST00000397441.2_Missense_Mutation_p.E597D|PRMT5_ENST00000538452.1_Missense_Mutation_p.E508D|PRMT5_ENST00000397440.4_Missense_Mutation_p.E443D	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	614					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TCACAGCCCACTCATACCACA	0.527000													17	56					9.16793e-09	1.41089e-08	0.004990	1	0
HYDIN	54768	broad.mit.edu	37	16	70908286	70908286	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:70908286G>T	ENST00000393567.2	-	64	11020	c.10870C>A	c.(10870-10872)Ccc>Acc	p.P3624T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3624										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)				TGGCTGGTGGGGGCCACCAGT	0.502000													12	50					3.45872e-05	4.78601e-05	0.004007	1	0
KIF5A	3798	broad.mit.edu	37	12	57966495	57966495	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:57966495G>A	ENST00000455537.2	+	15	1976	c.1702G>A	c.(1702-1704)Ggg>Agg	p.G568R	KIF5A_ENST00000286452.5_Missense_Mutation_p.G479R	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	568					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TGTGGGCAACGGGGAGATTAA	0.547000													48	90					0	0	0.003610	0	0
CTAGE5	4253	broad.mit.edu	37	14	39790155	39790155	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:39790155C>A	ENST00000553728.1	+	23	3385	c.3172C>A	c.(3172-3174)Cca>Aca	p.P1058T	CTAGE5_ENST00000557038.1_Missense_Mutation_p.P443T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P494T|CTAGE5_ENST00000280083.3_Missense_Mutation_p.P523T|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P494T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P511T|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P528T|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P448T|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P523T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P494T																							TGGTCCCTCACCATTGGGTTG	0.443000													24	106					5.61819e-17	1.05328e-16	0.005443	1	0
ABHD2	11057	broad.mit.edu	37	15	89738464	89738464	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:89738464G>T	ENST00000352732.5	+	11	1608	c.1088G>T	c.(1087-1089)cGa>cTa	p.R363L	ABHD2_ENST00000565973.1_Missense_Mutation_p.R363L|ABHD2_ENST00000355100.3_Missense_Mutation_p.R363L	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	363						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCAGAGAAACGAGAGAACGTC	0.567000													13	40					4.3838e-07	6.47413e-07	0.001855	1	0
DACT1	51339	broad.mit.edu	37	14	59113481	59113481	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:59113481G>T	ENST00000395153.3	+	4	2176	c.2029G>T	c.(2029-2031)Gcc>Tcc	p.A677S	DACT1_ENST00000556859.1_Missense_Mutation_p.A433S|DACT1_ENST00000395151.3_Missense_Mutation_p.A433S|DACT1_ENST00000541264.2_Missense_Mutation_p.A433S|DACT1_ENST00000335867.4_Missense_Mutation_p.A714S	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	714					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TCTGCCCTACGCCAGCCCCTA	0.677000													42	7					8.01111e-26	1.66983e-25	0.002522	1	0
CPS1	1373	broad.mit.edu	37	2	211515147	211515147	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:211515147G>T	ENST00000233072.5	+	28	3661	c.3465G>T	c.(3463-3465)gcG>gcT	p.A1155A	CPS1_ENST00000451903.2_Silent_p.A704A|CPS1_ENST00000430249.2_Silent_p.A1161A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1155	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TAGAAGAGGCGACTAGAGTTT	0.368000													24	32					3.6726e-16	6.7823e-16	0.003954	1	0
CRNN	49860	broad.mit.edu	37	1	152384655	152384655	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:152384655C>G	ENST00000271835.3	-	2	117	c.55G>C	c.(55-57)Gca>Cca	p.A19P	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	19					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGTCCTTGCATAGCGCCTG	0.522000													60	91					0	0	0.003610	0	0
AHNAK	79026	broad.mit.edu	37	11	62292378	62292378	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:62292378C>G	ENST00000378024.4	-	5	9785	c.9511G>C	c.(9511-9513)Gac>Cac	p.D3171H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3171					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTTCACGTCCACTTCTGGA	0.502000													195	167					0	0	0.003610	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249340	90249340	+	RNA	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:90249340G>T	ENST00000468879.1	+	0	477																											ACCATCAGCAGCCTGCAGCCT	0.473000													34	168					3.03874e-20	6.02866e-20	0.003271	1	0
KIF2B	84643	broad.mit.edu	37	17	51900892	51900892	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:51900892G>T	ENST00000268919.4	+	1	654	c.498G>T	c.(496-498)ctG>ctT	p.L166L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	166					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAGGCGGCTGCAGCAGGAGA	0.547000													46	20					7.05377e-20	1.39104e-19	0.003610	1	0
OR2L13	284521	broad.mit.edu	37	1	248262910	248262910	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:248262910C>T	ENST00000366478.2	+	3	570	c.233C>T	c.(232-234)cCc>cTc	p.P78L	OR2L13_ENST00000358120.2_Missense_Mutation_p.P78L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	78					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)			ACCACCGTCCCCAAGATGGCG	0.537000													50	72					0	0	0.003610	0	0
LPL	4023	broad.mit.edu	37	8	19813423	19813423	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:19813423G>A	ENST00000311322.8	+	6	1317	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	283					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GTTGAATGAAGAAAATCCAAG	0.468000													28	33					0	0	0.006320	0	0
KMT2C	58508	broad.mit.edu	37	7	151947003	151947003	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:151947003G>A	ENST00000355193.2	-	13	1989	c.1771C>T	c.(1771-1773)Cat>Tat	p.H591Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.H591Y					lysine (K)-specific methyltransferase 2C																		TCTGAGGGATGACTCTTCTGT	0.368000													14	52					0	0	0.002450	0	0
CDH2	1000	broad.mit.edu	37	18	25565085	25565085	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:25565085C>A	ENST00000269141.3	-	13	2511	c.2088G>T	c.(2086-2088)ctG>ctT	p.L696L	CDH2_ENST00000399380.3_Silent_p.L665L	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	696	Cadherin 5.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCTTCACACGCAGGATGGAAA	0.468000													17	27					8.34094e-07	1.21546e-06	0.008871	1	0
PCDHA7	56141	broad.mit.edu	37	5	140214890	140214890	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:140214890A>G	ENST00000525929.1	+	1	922	c.922A>G	c.(922-924)Atg>Gtg	p.M308V	PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.M308V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAGGACATATGGATTTTGA	0.448000													5	27					0	0	0.001855	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768676	31768676	+	Missense_Mutation	SNP	G	G	A	rs143305127		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:31768676G>A	ENST00000240587.4	-	2	2350	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	675					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)					CACCCATCCCGCGGGGGGCTG	0.652000													8	29					0	0	0.003080	0	0
NUP210L	91181	broad.mit.edu	37	1	154062039	154062039	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:154062039C>A	ENST00000368559.3	-	16	2290	c.2219G>T	c.(2218-2220)gGt>gTt	p.G740V	NUP210L_ENST00000271854.3_Missense_Mutation_p.G740V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	740						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GTTCAGGACACCTGGATGATT	0.448000													51	69					1.22102e-19	2.39834e-19	0.003610	1	0
CBLN4	140689	broad.mit.edu	37	20	54579055	54579055	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:54579055G>T	ENST00000064571.2	-	1	1473	c.173C>A	c.(172-174)tCc>tAc	p.S58Y		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	58						cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CCCCAGCGGGGAGGAAGAGGA	0.657000													37	46					1.06647e-15	1.9585e-15	0.003755	1	0
COL14A1	7373	broad.mit.edu	37	8	121344966	121344966	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:121344966G>C	ENST00000297848.3	+	42	5047	c.4777G>C	c.(4777-4779)Gga>Cga	p.G1593R	COL14A1_ENST00000309791.4_Missense_Mutation_p.G1593R|COL14A1_ENST00000247781.3_Missense_Mutation_p.G1498R	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1593	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGGCGCCCTGGGACCACCTGT	0.502000													10	32					0	0	0.000978	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52698947	52698947	+	Splice_Site	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:52698947A>T	ENST00000287727.3	+	3	241	c.70_splice	c.e3+1	p.E23_splice	ZFYVE9_ENST00000371591.1_Splice_Site_p.E23_splice|ZFYVE9_ENST00000361625.1_Splice_Site_p.E23_splice|ZFYVE9_ENST00000357206.2_Splice_Site_p.E23_splice	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	23					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AACAAAACGAAGGTGAGAATT	0.363000													22	8					0	0	0.003330	0	0
FAM47A	158724	broad.mit.edu	37	X	34149868	34149868	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:34149868G>A	ENST00000346193.3	-	1	579	c.528C>T	c.(526-528)ccC>ccT	p.P176P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	176	Pro-rich.									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						CAGGCTCAGTGGGTACCTCTG	0.582000													34	6					0	0	0.002445	0	0
TRIO	7204	broad.mit.edu	37	5	14378120	14378120	+	Splice_Site	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:14378120G>T	ENST00000344204.4	+	20	3355		c.e20-1		TRIO_ENST00000537187.1_Splice_Site|TRIO_ENST00000509967.2_Splice_Site	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTTTCTCTCAGATATCTTGAA	0.393000													10	26					3.86212e-05	5.32186e-05	0.008291	1	0
BRIP1	83990	broad.mit.edu	37	17	59878764	59878764	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:59878764C>T	ENST00000259008.2	-	8	1257	c.990G>A	c.(988-990)ggG>ggA	p.G330G	BRIP1_ENST00000577598.1_Silent_p.G330G	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	330	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTTTGCACATCCCTTGGAAAG	0.393000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					72	54					0	0	0.003610	0	0
AMOTL1	154810	broad.mit.edu	37	11	94602564	94602564	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:94602564G>T	ENST00000433060.2	+	12	2831	c.2690G>T	c.(2689-2691)gGc>gTc	p.G897V	AMOTL1_ENST00000317837.9_Missense_Mutation_p.G484V|AMOTL1_ENST00000317829.8_Missense_Mutation_p.G847V	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	897						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCCAGCCGCGGCCGGCTGAGC	0.642000													9	3					0.000442599	0.000590132	0.006214	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54928933	54928933	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:54928933T>A	ENST00000293373.6	+	27	2987	c.2908T>A	c.(2908-2910)Tgt>Agt	p.C970S	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.C920S	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	970					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGGTGTGGGCTGTGACATTGA	0.507000													32	52					0	0	0.004878	0	0
HCN1	348980	broad.mit.edu	37	5	45303797	45303797	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:45303797C>A	ENST00000303230.4	-	6	1579	c.1522G>T	c.(1522-1524)Gtg>Ttg	p.V508L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	508						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.V508M(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTTTTACCCACGGCTCCTTCT	0.393000													59	130					6.09941e-20	1.20524e-19	0.003610	1	0
ARAP2	116984	broad.mit.edu	37	4	36161118	36161118	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:36161118C>A	ENST00000303965.4	-	14	2941	c.2452G>T	c.(2452-2454)Gct>Tct	p.A818S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	818					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ACTACAGCAGCACATAGAGCC	0.413000													29	11					5.60225e-13	9.55962e-13	0.001786	1	0
PXDNL	137902	broad.mit.edu	37	8	52366215	52366215	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:52366215C>A	ENST00000356297.4	-	10	1213	c.1113G>T	c.(1111-1113)ctG>ctT	p.L371L	PXDNL_ENST00000543296.1_Silent_p.L371L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	371	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGATCCATCCAGCTCCAATC	0.502000													59	46					5.82218e-30	1.26703e-29	0.003610	1	0
PRRC2B	84726	broad.mit.edu	37	9	134354714	134354714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:134354714G>T	ENST00000357304.4	+	18	4889	c.4834G>T	c.(4834-4836)Gag>Tag	p.E1612*	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Nonsense_Mutation_p.E918*|PRRC2B_ENST00000458550.1_Nonsense_Mutation_p.E918*	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1612							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTTATGTCTGGAGCAAGGTGA	0.572000													13	10					1.5842e-08	2.41915e-08	0.001855	1	0
NMUR1	10316	broad.mit.edu	37	2	232393341	232393341	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:232393341C>A	ENST00000305141.4	-	2	524	c.391G>T	c.(391-393)Gtt>Ttt	p.V131F		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	131					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAGCCACCAACGCCCAGCAGG	0.612000													36	26					2.42023e-17	4.55465e-17	0.003271	1	0
PPFIA2	8499	broad.mit.edu	37	12	81777829	81777829	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:81777829G>T	ENST00000550584.2	-	8	1252	c.957C>A	c.(955-957)aaC>aaA	p.N319K	PPFIA2_ENST00000552948.1_Missense_Mutation_p.N319K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.N245K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.N166K|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000443686.3_Missense_Mutation_p.N220K|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000549325.1_Missense_Mutation_p.N301K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.N319K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.N301K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.N319K	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	245										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GATACTTGGTGTTCATTTCTT	0.423000													11	18					2.80697e-09	4.42311e-09	0.000978	1	0
USH2A	7399	broad.mit.edu	37	1	216243576	216243576	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:216243576C>G	ENST00000366943.2	-	30	6302	c.5916G>C	c.(5914-5916)gaG>gaC	p.E1972D	USH2A_ENST00000307340.3_Missense_Mutation_p.E1972D			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1972	Fibronectin type-III 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCAGGTCACCTCAATGCTGT	0.483000										HNSCC(13;0.011)			37	37					0	0	0.002522	0	0
CST9	128822	broad.mit.edu	37	20	23584167	23584167	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:23584167G>T	ENST00000376971.3	-	2	471	c.460C>A	c.(460-462)Ccg>Acg	p.P154T		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	154						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					TTGTCCCTCGGAATGGCTTTG	0.582000													12	32					4.93089e-13	8.44319e-13	0.002450	1	0
SSPO	23145	broad.mit.edu	37	7	149482053	149482053	+	RNA	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:149482053C>T	ENST00000378016.2	+	0	2841							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATCACTCCTGCCCTGCAGGCA	0.622000													27	6					0	0	0.004656	0	0
GABRG2	2566	broad.mit.edu	37	5	161580279	161580279	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:161580279C>A	ENST00000356592.3	+	10	1793	c.1333C>A	c.(1333-1335)Cgc>Agc	p.R445S	GABRG2_ENST00000361925.4_Missense_Mutation_p.R437S|GABRG2_ENST00000414552.2_Missense_Mutation_p.R485S|GABRG2_ENST00000393933.4_Missense_Mutation_p.R342S	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	437					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GATACATATCCGCATTGCCAA	0.498000													109	25					6.29576e-42	1.43323e-41	0.003610	1	0
SHANK3	85358	broad.mit.edu	37	22	51160861	51160861	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr22:51160861G>T	ENST00000414786.2	+	21	4785	c.4558G>T	c.(4558-4560)Gct>Tct	p.A1520S	SHANK3_ENST00000445220.2_Missense_Mutation_p.A1536S|SHANK3_ENST00000262795.3_Missense_Mutation_p.A1550S			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1550										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CATCGCAGCAGCTCGGTGAGC	0.637000													14	12					1.99824e-07	2.98677e-07	0.004990	1	0
GRID1	2894	broad.mit.edu	37	10	87628928	87628928	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:87628928C>A	ENST00000327946.7	-	6	875	c.790G>T	c.(790-792)Gac>Tac	p.D264Y		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	264						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	ATCTCCGGGTCACTGATTTCC	0.502000										Multiple Myeloma(13;0.14)			30	53					1.99505e-19	3.89548e-19	0.002445	1	0
PLXNA4	91584	broad.mit.edu	37	7	131831332	131831332	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:131831332C>T	ENST00000359827.3	-	28	5954	c.4992G>A	c.(4990-4992)aaG>aaA	p.K1664K	PLXNA4_ENST00000321063.4_Silent_p.K1664K			Q9HCM2	PLXA4_HUMAN	plexin A4	1664						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGTCCCCCTCCTTCTGGTCTC	0.582000													128	167					0	0	0.003610	0	0
CHORDC1	26973	broad.mit.edu	37	11	89935706	89935706	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:89935706T>A	ENST00000529726.1	-	4	4215	c.302A>T	c.(301-303)aAg>aTg	p.K101M	CHORDC1_ENST00000457199.2_Missense_Mutation_p.K270M|CHORDC1_ENST00000529987.1_Missense_Mutation_p.K101M|CHORDC1_ENST00000320585.6_Missense_Mutation_p.K289M			Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	289	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				ATAACTTCGCTTTACATCAAT	0.383000													16	12					0	0	0.004007	0	0
PRDM9	56979	broad.mit.edu	37	5	23526943	23526943	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:23526943C>T	ENST00000296682.3	+	11	1928	c.1746C>T	c.(1744-1746)tgC>tgT	p.C582C		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	582					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCTATGTCTGCAGGGAGTGTG	0.597000										HNSCC(3;0.000094)			32	133					0	0	0.006230	0	0
DAB1	1600	broad.mit.edu	37	1	57480922	57480922	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:57480922G>T	ENST00000371236.2	-	12	1341	c.1078C>A	c.(1078-1080)Cag>Aag	p.Q360K	DAB1_ENST00000371231.1_Missense_Mutation_p.Q393K|DAB1_ENST00000439789.2_Missense_Mutation_p.Q274K|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.Q342K|DAB1_ENST00000371234.4_Missense_Mutation_p.Q360K|DAB1_ENST00000420954.2_Missense_Mutation_p.Q358K			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	393					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGCGGAAACTGCCCGGCCACA	0.657000													21	46					1.55469e-16	2.89818e-16	0.003330	1	0
PLEKHG4B	153478	broad.mit.edu	37	5	163501	163501	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:163501G>A	ENST00000283426.6	+	11	2296	c.2246G>A	c.(2245-2247)aGt>aAt	p.S749N		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	749					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GACCATACTAGTGTCTTCAGC	0.567000													43	167					0	0	0.002852	0	0
NPC1	4864	broad.mit.edu	37	18	21136522	21136522	+	Silent	SNP	C	C	A	rs147795644	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:21136522C>A	ENST00000269228.5	-	8	1565	c.1011G>T	c.(1009-1011)cgG>cgT	p.R337R	NPC1_ENST00000412552.2_Silent_p.R87R|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	337					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTGTGAACAGCCGCCTCAAGC	0.572000													14	15					3.27435e-08	4.95415e-08	0.002450	1	0
COL5A2	1290	broad.mit.edu	37	2	189899873	189899873	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:189899873A>T	ENST00000374866.3	-	53	4396	c.4122T>A	c.(4120-4122)taT>taA	p.Y1374*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1374	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGTGGTCTCCATAAGCGAACT	0.348000													16	337					0	0	0.007413	0	0
MROH5	389690	broad.mit.edu	37	8	142450389	142450389	+	RNA	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:142450389G>T	ENST00000430863.1	-	0	3239					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CCTCAGGGCTGGGGTCGTGGA	0.627000													5	7					0.000602214	0.000796503	0.000602	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777002	18777002	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:18777002G>T	ENST00000380548.4	+	19	3114	c.2775G>T	c.(2773-2775)acG>acT	p.T925T		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	925	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGCACGTCACGGTGGCCCCCT	0.672000													18	63					1.99824e-07	2.98677e-07	0.004990	1	0
FREM2	341640	broad.mit.edu	37	13	39263534	39263534	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:39263534G>T	ENST00000280481.7	+	1	2269	c.2053G>T	c.(2053-2055)Ggg>Tgg	p.G685W		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	685					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TAATCAGTCCGGGCTACAGCG	0.557000													44	16					1.57945e-13	2.71391e-13	0.002852	1	0
CNR1	1268	broad.mit.edu	37	6	88854203	88854203	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:88854203C>A	ENST00000537554.1	-	2	4353	c.791G>T	c.(790-792)tGc>tTc	p.C264F	CNR1_ENST00000535130.1_Missense_Mutation_p.C264F|CNR1_ENST00000369501.2_Missense_Mutation_p.C264F|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.C231F|CNR1_ENST00000549890.1_Missense_Mutation_p.C264F|CNR1_ENST00000369499.2_Missense_Mutation_p.C264F|CNR1_ENST00000428600.2_Missense_Mutation_p.C264F|CNR1_ENST00000549716.1_Missense_Mutation_p.C203F	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	264					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AATGTCTGAGCAAACAGATTG	0.512000													14	31					1.5842e-08	2.41915e-08	0.001855	1	0
SYDE2	84144	broad.mit.edu	37	1	85648430	85648430	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:85648430T>A	ENST00000341460.5	-	3	1944	c.1895A>T	c.(1894-1896)aAa>aTa	p.K632I		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	632					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTTGCTAGCTTTAGTTGTAAG	0.363000													11	38					0	0	0.008291	0	0
OR4C11	219429	broad.mit.edu	37	11	55371095	55371095	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:55371095C>A	ENST00000302231.4	-	1	779	c.755G>T	c.(754-756)tGt>tTt	p.C252F		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TATGAATATACATGGGCCAAA	0.438000													42	5					2.77807e-22	5.62445e-22	0.003214	1	0
MTNR1B	4544	broad.mit.edu	37	11	92715175	92715175	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:92715175C>A	ENST00000257068.2	+	2	792	c.786C>A	c.(784-786)atC>atA	p.I262I		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	262					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TCTTTGCCATCTGCTGGGCTC	0.557000													28	101					7.01153e-11	1.14313e-10	0.007291	1	0
ANK3	288	broad.mit.edu	37	10	61844412	61844412	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:61844412G>A	ENST00000280772.1	-	32	4213	c.4022C>T	c.(4021-4023)aCt>aTt	p.T1341I	ANK3_ENST00000373827.2_Missense_Mutation_p.T1335I|ANK3_ENST00000355288.2_Missense_Mutation_p.T475I|ANK3_ENST00000503366.1_Missense_Mutation_p.T1342I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1341					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGCTCTAAAGTTTTGTCCAC	0.373000													20	163					0	0	0.003954	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428941	190428941	+	Silent	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:190428941T>A	ENST00000261024.2	-	7	1197	c.771A>T	c.(769-771)ccA>ccT	p.P257P		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	257					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CCAGGGGTTTTGGCTCAGTAT	0.418000													102	62					0	0	0.003610	0	0
CD1C	911	broad.mit.edu	37	1	158263089	158263089	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:158263089A>C	ENST00000368170.3	+	5	1256	c.977A>C	c.(976-978)cAc>cCc	p.H326P		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	326					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TTTAAGAAGCACTGGTGAGTT	0.398000													45	167					0	0	0.003610	0	0
SUSD5	26032	broad.mit.edu	37	3	33194435	33194435	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:33194435C>A	ENST00000309558.3	-	5	2106	c.1689G>T	c.(1687-1689)gtG>gtT	p.V563V		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	563					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATCCGTCCCCCACACACGACT	0.607000													8	14					1.12685e-05	1.58143e-05	0.004482	1	0
HRNR	388697	broad.mit.edu	37	1	152187476	152187476	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:152187476C>G	ENST00000368801.2	-	3	6704	c.6629G>C	c.(6628-6630)aGc>aCc	p.S2210T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2210					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGCCACGGCTGGAAGAACG	0.597000													26	307					0	0	0.002096	0	0
ZNF677	342926	broad.mit.edu	37	19	53741621	53741621	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:53741621A>T	ENST00000333952.4	-	5	524	c.359T>A	c.(358-360)aTg>aAg	p.M120K	ZNF677_ENST00000598513.1_Missense_Mutation_p.M120K			Q86XU0	ZN677_HUMAN	zinc finger protein 677	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GGTCAAAGGCATTCCTTTGTA	0.353000													24	49					0	0	0.002780	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745606	77745606	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:77745606C>A	ENST00000409088.3	-	3	1803	c.1389G>T	c.(1387-1389)atG>atT	p.M463I	LRRTM4_ENST00000409911.1_Missense_Mutation_p.M464I|LRRTM4_ENST00000409093.1_Missense_Mutation_p.M463I|LRRTM4_ENST00000409282.1_Missense_Mutation_p.M464I|LRRTM4_ENST00000409884.1_Missense_Mutation_p.M463I	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	463						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCCGCCTCTTCATAAGAGAGT	0.473000													19	19					7.07596e-05	9.68289e-05	0.006122	1	0
SIM1	6492	broad.mit.edu	37	6	100838354	100838354	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:100838354T>A	ENST00000369208.3	-	12	2966	c.2184A>T	c.(2182-2184)agA>agT	p.R728S	SIM1_ENST00000262901.4_Missense_Mutation_p.R728S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	728	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGGAATAGTTTCTAATGGTTT	0.448000													54	63					0	0	0.003610	0	0
SLC22A16	85413	broad.mit.edu	37	6	110746181	110746181	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:110746181C>T	ENST00000368919.3	-	8	1695	c.1629G>A	c.(1627-1629)gaG>gaA	p.E543E	SLC22A16_ENST00000330550.4_Silent_p.E509E	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	543					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CATTCTCTGACTCCAGTTTTG	0.473000													35	68					0	0	0.003271	0	0
NPC1	4864	broad.mit.edu	37	18	21136523	21136523	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:21136523C>A	ENST00000269228.5	-	8	1564	c.1010G>T	c.(1009-1011)cGg>cTg	p.R337L	NPC1_ENST00000412552.2_Missense_Mutation_p.R87L|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	337					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGTGAACAGCCGCCTCAAGCA	0.572000													14	15					3.27435e-08	4.95415e-08	0.002450	1	0
NOX3	50508	broad.mit.edu	37	6	155750019	155750019	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:155750019G>T	ENST00000159060.2	-	9	1156	c.1054C>A	c.(1054-1056)Cac>Aac	p.H352N		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	352	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GCCCGGATGTGCACGCTGAAA	0.637000													22	32					4.35082e-09	6.81237e-09	0.001523	1	0
CHRD	8646	broad.mit.edu	37	3	184106393	184106393	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:184106393C>A	ENST00000204604.1	+	21	2819	c.2573C>A	c.(2572-2574)cCc>cAc	p.P858H	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.P858H|CHRD_ENST00000545352.1_Missense_Mutation_p.P400H|CHRD_ENST00000348986.3_Missense_Mutation_p.P818H	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	858					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGGCCCACCCCCAGCTGGGG	0.607000													62	18					3.05417e-18	5.85926e-18	0.003610	1	0
POU4F1	5457	broad.mit.edu	37	13	79177363	79177363	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:79177363C>A	ENST00000377208.5	-	1	310	c.99G>T	c.(97-99)cgG>cgT	p.R33R	RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606376.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	33					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GGCAGGCCCGCCGGATGGCCT	0.711000													8	12					1.06961e-07	1.60849e-07	0.003080	1	0
RNF44	22838	broad.mit.edu	37	5	175956382	175956382	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:175956382C>T	ENST00000274811.4	-	10	1667	c.1143G>A	c.(1141-1143)gtG>gtA	p.V381V	RNF44_ENST00000537487.1_Silent_p.V300V	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	381							zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAAGCAGACCACACACCTGT	0.627000													25	10					0	0	0.003330	0	0
RP1L1	94137	broad.mit.edu	37	8	10469837	10469837	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:10469837C>A	ENST00000382483.3	-	4	1994	c.1771G>T	c.(1771-1773)Gca>Tca	p.A591S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	591					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCGTCTCTGCCTGCAGGTCG	0.642000													13	92					0.000151284	0.000204472	0.001855	1	0
SIDT1	54847	broad.mit.edu	37	3	113325904	113325904	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:113325904G>C	ENST00000264852.4	+	15	2147	c.1421G>C	c.(1420-1422)gGc>gCc	p.G474A	SIDT1_ENST00000393830.3_Missense_Mutation_p.G474A|SIDT1_ENST00000463226.1_Intron	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	474						integral to membrane		p.G474A(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AATGTCACTGGCAACCAGGAC	0.512000													22	23					0	0	0.006320	0	0
ESCO1	114799	broad.mit.edu	37	18	19154125	19154125	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:19154125C>A	ENST00000269214.5	-	4	1617	c.680G>T	c.(679-681)tGt>tTt	p.C227F		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	227					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CTTCTGAGGACACTTTTCAGA	0.403000													41	70					3.61848e-18	6.91468e-18	0.007835	1	0
LRFN1	57622	broad.mit.edu	37	19	39805183	39805183	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:39805183C>A	ENST00000248668.4	-	1	793	c.794G>T	c.(793-795)cGg>cTg	p.R265L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	265	LRRCT.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GCGGGTCAGCCGCCGCAGCCA	0.692000													6	1					1.06961e-07	1.60849e-07	0.003080	1	0
SLC22A9	114571	broad.mit.edu	37	11	63141448	63141448	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:63141448G>A	ENST00000310969.4	+	3	857	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	SLC22A9_ENST00000279178.3_Silent_p.L248L			Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	0					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TTATGACCCTGGCAGGCCTGG	0.473000													12	40					0	0	0.001368	0	0
C10orf90	118611	broad.mit.edu	37	10	128193239	128193239	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:128193239G>A	ENST00000284694.7	-	3	650	c.530C>T	c.(529-531)cCc>cTc	p.P177L	C10orf90_ENST00000544758.1_Missense_Mutation_p.P274L|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.P130L|C10orf90_ENST00000356858.3_Missense_Mutation_p.P130L|C10orf90_ENST00000454341.1_Missense_Mutation_p.P177L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	177								p.P177L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CAGAGCCGGGGGCGCCTGGAA	0.667000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	64					0	0	0.003954	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72953671	72953671	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:72953671C>A	ENST00000421285.3	+	8	631	c.631C>A	c.(631-633)Ctg>Atg	p.L211M		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	211										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GCGGGCGCTGCTGAACGCACA	0.592000													15	65					8.00594e-06	1.12998e-05	0.007413	1	0
SERPINA5	5104	broad.mit.edu	37	14	95053813	95053813	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:95053813C>A	ENST00000329597.7	+	3	324	c.114C>A	c.(112-114)gcC>gcA	p.A38A	SERPINA5_ENST00000554866.1_Silent_p.A38A|SERPINA5_ENST00000554276.1_Silent_p.A38A|SERPINA5_ENST00000553780.1_Silent_p.A38A	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	38					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	ATGTAGGTGCCACGGTGGCCC	0.622000													52	14					6.81593e-30	1.48003e-29	0.003610	1	0
TUBA3C	7278	broad.mit.edu	37	13	19748237	19748237	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:19748237C>A	ENST00000400113.3	-	5	1223	c.1119G>T	c.(1117-1119)cgG>cgT	p.R373R		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	373					'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)		TGCACACAGCCCGCTGCACCT	0.602000													55	11					4.1673e-28	8.93123e-28	0.003610	1	0
TECTA	7007	broad.mit.edu	37	11	120989334	120989334	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:120989334C>T	ENST00000392793.1	+	7	1381	c.1110C>T	c.(1108-1110)cgC>cgT	p.R370R	TECTA_ENST00000264037.2_Silent_p.R370R			O75443	TECTA_HUMAN	tectorin alpha	370	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATGAACACCGCAGAGGTTCAG	0.542000													32	82					0	0	0.002096	0	0
NXPE4	54827	broad.mit.edu	37	11	114453455	114453455	+	Missense_Mutation	SNP	G	G	A	rs111330181		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:114453455G>A	ENST00000375478.3	-	3	565	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TGCTTCCTGCGTCCCAAGTGG	0.587000													15	35					0	0	0.004007	0	0
SALL1	6299	broad.mit.edu	37	16	51171110	51171110	+	Silent	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:51171110G>C	ENST00000440970.1	-	3	4028	c.3597C>G	c.(3595-3597)ggC>ggG	p.G1199G	SALL1_ENST00000251020.4_Silent_p.G1296G|SALL1_ENST00000541611.1_Silent_p.G119G|SALL1_ENST00000566102.1_3'UTR	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1296					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTTCTCCAGGCCGGCCAGGG	0.587000													16	38					0	0	0.003163	0	0
UNC79	57578	broad.mit.edu	37	14	94053228	94053228	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:94053228C>A	ENST00000553484.1	+	22	3160	c.3006C>A	c.(3004-3006)taC>taA	p.Y1002*	UNC79_ENST00000555664.1_Nonsense_Mutation_p.Y1002*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.Y825*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.Y1002*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1002						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTTTAGCCTACATTCAGGACC	0.343000													124	37					3.78446e-69	8.83936e-69	0.003610	1	0
ZNF37A	7587	broad.mit.edu	37	10	38403763	38403763	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:38403763G>A	ENST00000351773.3	+	6	926	c.96G>A	c.(94-96)ctG>ctA	p.L32L	ZNF37A_ENST00000361085.4_Silent_p.L32L|ZNF37A_ENST00000479469.1_3'UTR	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	32	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AGAGGACCCTGTACAGGGATG	0.493000													20	96					0	0	0.001523	0	0
AKT3	10000	broad.mit.edu	37	1	243858929	243858929	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:243858929C>G	ENST00000366539.1	-	3	336	c.136G>C	c.(136-138)Gat>Cat	p.D46H	AKT3_ENST00000366540.1_Missense_Mutation_p.D46H|AKT3_ENST00000263826.5_Missense_Mutation_p.D46H|AKT3_ENST00000336199.5_Missense_Mutation_p.D46H			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	46	PH.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TAAGGTAAATCCACATCTTGA	0.318000													7	18					0	0	0.003080	0	0
PTPN1	5770	broad.mit.edu	37	20	49177900	49177900	+	Splice_Site	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:49177900G>T	ENST00000371621.3	+	2	238	c.63_splice	c.e2-1	p.D22_splice	PTPN1_ENST00000541713.1_Intron	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	22	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	TTTTTTGTAGGATATCCGACA	0.443000													25	45					4.47668e-21	8.98975e-21	0.003954	1	0
OR2M4	26245	broad.mit.edu	37	1	248402768	248402768	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:248402768G>T	ENST00000306687.1	+	1	538	c.538G>T	c.(538-540)Gat>Tat	p.D180Y		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			CTTTTTCTGTGATGTTGCTGC	0.428000													36	56					6.70999e-13	1.13908e-12	0.004289	1	0
SPATA16	83893	broad.mit.edu	37	3	172607409	172607409	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:172607409C>A	ENST00000351008.3	-	11	1844	c.1661G>T	c.(1660-1662)cGa>cTa	p.R554L		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	554					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTTTTGCCTTCGAGCAGTTCT	0.378000													93	23					5.95195e-44	1.35809e-43	0.003610	1	0
CTNND2	1501	broad.mit.edu	37	5	11023036	11023036	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:11023036G>C	ENST00000304623.8	-	17	3033	c.2844C>G	c.(2842-2844)aaC>aaG	p.N948K	CTNND2_ENST00000511377.1_Missense_Mutation_p.N857K|CTNND2_ENST00000359640.2_Missense_Mutation_p.N890K|CTNND2_ENST00000458100.2_Missense_Mutation_p.N515K|CTNND2_ENST00000503622.1_Missense_Mutation_p.N611K|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	948					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTGCAGTGTTGTTGCTGTTGT	0.498000													13	89					0	0	0.002450	0	0
FARP2	9855	broad.mit.edu	37	2	242343347	242343347	+	Splice_Site	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:242343347G>C	ENST00000264042.3	+	3	458	c.288_splice	c.e3+1	p.W96_splice	FARP2_ENST00000373287.4_Splice_Site_p.W96_splice|FARP2_ENST00000545004.1_Splice_Site_p.W96_splice	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	96	FERM.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGTCCTACTGGGTAAGTGCTT	0.468000													13	27					0	0	0.001855	0	0
ACVR1B	91	broad.mit.edu	37	12	52370313	52370313	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:52370313G>A	ENST00000257963.4	+	3	611	c.534G>A	c.(532-534)acG>acA	p.T178T	ACVR1B_ENST00000415850.2_Silent_p.T178T|ACVR1B_ENST00000426655.2_Silent_p.T178T|ACVR1B_ENST00000541224.1_Silent_p.T178T|ACVR1B_ENST00000542485.1_Silent_p.T126T	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	178	GS.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AAGACAAGACGCTCCAGGATC	0.488000													56	82					0	0	0.003610	0	0
CTSG	1511	broad.mit.edu	37	14	25042852	25042852	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:25042852G>T	ENST00000216336.2	-	5	795	c.759C>A	c.(757-759)acC>acA	p.T253T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	253					immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GTCACAGGGGGGTCTCCATCT	0.502000													153	84					5.63807e-81	1.32e-80	0.003610	1	0
QARS	5859	broad.mit.edu	37	3	49137018	49137018	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:49137018T>A	ENST00000306125.6	-	16	1788	c.1451A>T	c.(1450-1452)tAt>tTt	p.Y484F	QARS_ENST00000414533.1_Missense_Mutation_p.Y473F			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	484					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GAGGCGGCCATACTCCCACTG	0.552000													35	5					0	0	0.002836	0	0
PRUNE2	158471	broad.mit.edu	37	9	79403395	79403395	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:79403395A>C	ENST00000376713.3	-	7	933	c.812T>G	c.(811-813)tTt>tGt	p.F271C	PRUNE2_ENST00000428286.1_Intron|PRUNE2_ENST00000376718.3_Intron			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	0					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						cctggattgaaaggcgtctct	0.468000													3	6					0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	216138697	216138697	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:216138697T>A	ENST00000366943.2	-	37	7468	c.7082A>T	c.(7081-7083)cAc>cTc	p.H2361L	USH2A_ENST00000307340.3_Missense_Mutation_p.H2361L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2361	Fibronectin type-III 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGGACTGAGTGTGTTAAGAG	0.378000										HNSCC(13;0.011)			65	89					0	0	0.003610	0	0
FOXK1	221937	broad.mit.edu	37	7	4798711	4798711	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:4798711G>T	ENST00000328914.4	+	6	1274	c.1274G>T	c.(1273-1275)gGg>gTg	p.G425V	FOXK1_ENST00000446823.1_Missense_Mutation_p.G262V	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	425					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		ACACACCCCGGGCTGATGTCC	0.667000													24	58					1.1804e-14	2.10892e-14	0.003954	1	0
FAT3	120114	broad.mit.edu	37	11	92533544	92533544	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:92533544C>A	ENST00000298047.6	+	9	7382	c.7365C>A	c.(7363-7365)aaC>aaA	p.N2455K	FAT3_ENST00000409404.2_Missense_Mutation_p.N2455K|FAT3_ENST00000525166.1_Missense_Mutation_p.N2305K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2455	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATTGTCCAACCATCGGAAGC	0.488000										TCGA Ovarian(4;0.039)			34	33					8.4185e-14	1.45157e-13	0.002445	1	0
ME2	4200	broad.mit.edu	37	18	48458657	48458657	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:48458657A>G	ENST00000321341.5	+	13	1616	c.1344A>G	c.(1342-1344)ccA>ccG	p.P448P	ME2_ENST00000382927.3_Silent_p.P448P|ME2_ENST00000585680.1_3'UTR	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	448					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	GTGGCAGTCCATTTGGGCCAG	0.358000													25	42					0	0	0.007291	0	0
TECTA	7007	broad.mit.edu	37	11	121038900	121038900	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:121038900G>T	ENST00000392793.1	+	19	5995	c.5724G>T	c.(5722-5724)ttG>ttT	p.L1908F	TECTA_ENST00000264037.2_Missense_Mutation_p.L1908F			O75443	TECTA_HUMAN	tectorin alpha	1908	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGATCTCCTTGGATTCTGTTG	0.443000													44	111					4.75955e-12	7.9299e-12	0.003610	1	0
C11orf53	341032	broad.mit.edu	37	11	111156507	111156507	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:111156507C>A	ENST00000280325.4	+	4	586	c.439C>A	c.(439-441)Cac>Aac	p.H147N		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	147										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CATCGCCCAGCACAGGGGCTC	0.652000													16	61					0.00316338	0.00411239	0.003163	1	0
CLCA4	22802	broad.mit.edu	37	1	87041235	87041235	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:87041235C>A	ENST00000370563.3	+	11	1946	c.1904C>A	c.(1903-1905)tCa>tAa	p.S635*	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	635						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTCATTGAATCACAGAATGGA	0.378000													59	61					5.73376e-24	1.17044e-23	0.003610	1	0
MTMR9	66036	broad.mit.edu	37	8	11174306	11174306	+	Missense_Mutation	SNP	G	G	T	rs149021500	byFrequency	TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:11174306G>T	ENST00000221086.3	+	8	1711	c.1238G>T	c.(1237-1239)tGt>tTt	p.C413F	AF131216.6_ENST00000498997.2_RNA|MTMR9_ENST00000526292.1_Missense_Mutation_p.C328F	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	413	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CAGTTTCCCTGTTCTTTTGAG	0.448000													22	54					1.55795e-14	2.77342e-14	0.001882	1	0
WASF3	10810	broad.mit.edu	37	13	27256877	27256877	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr13:27256877G>T	ENST00000361042.4	+	9	1333	c.1108G>T	c.(1108-1110)Gca>Tca	p.A370S	WASF3_ENST00000335327.5_Missense_Mutation_p.A373S			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	373					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCGTTCCCTGCATCAGCCAG	0.697000													75	15					3.83446e-41	8.68909e-41	0.003610	1	0
ZNF510	22869	broad.mit.edu	37	9	99521621	99521621	+	Silent	SNP	A	A	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:99521621A>G	ENST00000375231.1	-	6	2141	c.1491T>C	c.(1489-1491)ttT>ttC	p.F497F	ZNF510_ENST00000223428.4_Silent_p.F497F			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ACTTCTGAACAAAAGTTTTCC	0.408000													131	16					0	0	0.003610	0	0
EGF	1950	broad.mit.edu	37	4	110883141	110883141	+	Splice_Site	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:110883141G>C	ENST00000265171.5	+	8	1757	c.1312_splice	c.e8+1	p.G438_splice	EGF_ENST00000509793.1_Splice_Site_p.G396_splice|EGF_ENST00000503392.1_Splice_Site_p.G438_splice	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	438	EGF-like 4.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AACATGTAGCGGTGAGTTTAT	0.378000													48	17					0	0	0.003610	0	0
GJB4	127534	broad.mit.edu	37	1	35227444	35227444	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:35227444T>C	ENST00000339480.1	+	2	959	c.589T>C	c.(589-591)Tgc>Cgc	p.C197R	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	197					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGCTGCCATCTGCATCCTGCT	0.607000													24	12					0	0	0.005443	0	0
POF1B	79983	broad.mit.edu	37	X	84634369	84634369	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:84634369G>T	ENST00000262753.4	-	2	236	c.91C>A	c.(91-93)Cac>Aac	p.H31N	POF1B_ENST00000373145.3_Missense_Mutation_p.H31N	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	31							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TGGTAGCAGTGGTAATGCTGG	0.557000													3	3					6.4e-05	8.77197e-05	0.004672	1	0
ADGRG6	57211	broad.mit.edu	37	6	142691876	142691876	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:142691876G>A	ENST00000230173.6	+	4	1491	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N	GPR126_ENST00000296932.8_Missense_Mutation_p.D339N|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367608.2_Missense_Mutation_p.D339N|GPR126_ENST00000367609.3_Missense_Mutation_p.D339N	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	339	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CTGGCAAAATGACTTCTGGAA	0.373000													30	40					0	0	0.001786	0	0
ACTA1	58	broad.mit.edu	37	1	229568170	229568170	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:229568170G>T	ENST00000366684.3	-	4	565	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	155					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	CCGGAGTCCAGCACGATGCCT	0.736000													22	20					1.77063e-15	3.24561e-15	0.005443	1	0
SLC24A4	123041	broad.mit.edu	37	14	92959890	92959890	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr14:92959890C>A	ENST00000532405.1	+	17	2013	c.1787C>A	c.(1786-1788)gCc>gAc	p.A596D	SLC24A4_ENST00000393265.2_Missense_Mutation_p.A532D|SLC24A4_ENST00000298877.1_Missense_Mutation_p.A579D|SLC24A4_ENST00000351924.5_Missense_Mutation_p.A560D|SLC24A4_ENST00000531433.1_Missense_Mutation_p.A577D			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	596						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTTCTCTACGCCATCTTCTTG	0.547000													47	12					2.24722e-20	4.46731e-20	0.003610	1	0
ANKRD24	170961	broad.mit.edu	37	19	4224484	4224484	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:4224484C>A	ENST00000600132.1	+	22	3699	c.3423C>A	c.(3421-3423)ctC>ctA	p.L1141L	ANKRD24_ENST00000262970.5_Silent_p.L1231L|ANKRD24_ENST00000318934.4_Silent_p.L1141L	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1141										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TGCAGAGACTCCAGGCTCAGG	0.612000													16	24					6.94344e-10	1.11911e-09	0.006122	1	0
AGMO	392636	broad.mit.edu	37	7	15405794	15405794	+	Silent	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:15405794C>T	ENST00000342526.3	-	11	1297	c.1128G>A	c.(1126-1128)ttG>ttA	p.L376L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	376					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CAATGGAAGTCAAGGTCAGGA	0.383000													16	10					0	0	0.003163	0	0
MAGEA11	4110	broad.mit.edu	37	X	148796170	148796170	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:148796170C>A	ENST00000355220.5	+	3	228	c.126C>A	c.(124-126)ttC>ttA	p.F42L	MAGEA11_ENST00000333104.4_Missense_Mutation_p.F13L	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	42						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGGACGACTTCCAGTCAACAG	0.542000													8	4					4.84862e-15	8.72574e-15	0.000978	1	0
ABCA8	10351	broad.mit.edu	37	17	66881435	66881435	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:66881435C>A	ENST00000269080.2	-	25	3468	c.3331G>T	c.(3331-3333)Gga>Tga	p.G1111*	ABCA8_ENST00000430352.2_Nonsense_Mutation_p.G1151*|ABCA8_ENST00000586539.1_Nonsense_Mutation_p.G1151*	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1111						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AACGCAAATCCAGCCACAGAG	0.358000													20	41					0.000132079	0.000179004	0.008871	1	0
SAGE1	55511	broad.mit.edu	37	X	134994064	134994064	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chrX:134994064G>T	ENST00000535938.1	+	18	2640	c.2473G>T	c.(2473-2475)Gat>Tat	p.D825Y	SAGE1_ENST00000324447.3_Missense_Mutation_p.D825Y|SAGE1_ENST00000537770.1_Missense_Mutation_p.D449Y|SAGE1_ENST00000370709.3_Missense_Mutation_p.D825Y	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	825								p.D825N(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GAAAATTAATGATGATATAAA	0.378000													12	5					0.00010058	0.000136501	0.001368	1	0
S1PR1	1901	broad.mit.edu	37	1	101705298	101705298	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:101705298C>T	ENST00000305352.6	+	2	1133	c.758C>T	c.(757-759)gCg>gTg	p.A253V		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	253					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						AAGTCGCTGGCGCTGCTCAAG	0.587000													55	42					0	0	0.003610	0	0
RPL28	6158	broad.mit.edu	37	19	55898082	55898082	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:55898082G>A	ENST00000431533.2	+	3	268	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	RPL28_ENST00000458349.2_Intron|RPL28_ENST00000428193.2_Intron|RPL28_ENST00000560055.1_Intron|RPL28_ENST00000558752.1_Intron|RPL28_ENST00000560583.1_Intron|RPL28_ENST00000559463.1_Intron|RPL28_ENST00000558815.1_Intron|RPL28_ENST00000344063.2_Intron|RPL28_ENST00000558131.1_Intron	NM_001136136.1	NP_001129608.1	P46779	RL28_HUMAN	ribosomal protein L28	0					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		TCTGGTTTGGGCCAGAGAGCG	0.612000													20	30					0	0	0.007413	0	0
RRM2B	50484	broad.mit.edu	37	8	103244533	103244533	+	Splice_Site	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:103244533C>T	ENST00000251810.3	-	2	292		c.e2-1		RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)						deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			AAGATGATCTCTTTGAAAAAT	0.378000								Modulation of nucleotide pools					55	48					0	0	0.003610	0	0
TRIM36	55521	broad.mit.edu	37	5	114480312	114480312	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:114480312C>A	ENST00000513154.1	-	4	1044	c.718G>T	c.(718-720)Gcc>Tcc	p.A240S	TRIM36_ENST00000514154.1_Missense_Mutation_p.A97S|TRIM36_ENST00000282369.3_Missense_Mutation_p.A252S			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	252						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GTTTTGTAGGCACTGCTCATA	0.368000													25	10					2.44723e-14	4.34087e-14	0.004656	1	0
CLCN7	1186	broad.mit.edu	37	16	1507713	1507713	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:1507713C>A	ENST00000382745.4	-	8	1325	c.720G>T	c.(718-720)ggG>ggT	p.G240G	CLCN7_ENST00000448525.1_Silent_p.G216G|CLCN7_ENST00000262318.8_Silent_p.G216G	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	240			G -> R (in OPTB4).			integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CGGCCAGGCCCCCGACCACGG	0.627000													6	21					8.12818e-05	0.000110463	0.001984	1	0
TRIML2	205860	broad.mit.edu	37	4	189012681	189012681	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:189012681G>T	ENST00000512729.1	-	7	1384	c.1010C>A	c.(1009-1011)aCc>aAc	p.T337N	TRIML2_ENST00000326754.3_Missense_Mutation_p.T362N	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	337	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GGACATCTCGGTCACATTGTA	0.493000													47	18					3.05275e-18	5.85926e-18	0.003214	1	0
ZBTB16	7704	broad.mit.edu	37	11	113934619	113934619	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:113934619C>A	ENST00000335953.4	+	2	977	c.597C>A	c.(595-597)acC>acA	p.T199T	ZBTB16_ENST00000392996.2_Silent_p.T199T	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	199					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGAGTCCCACCAAGGCTGCAG	0.597000													15	40					3.27435e-08	4.95415e-08	0.002450	1	0
ESPL1	9700	broad.mit.edu	37	12	53663153	53663153	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:53663153G>A	ENST00000257934.4	+	3	518	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	ESPL1_ENST00000552462.1_Missense_Mutation_p.V143M	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	143					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTATGAGGCCGTGGCTCGGGG	0.622000													33	60					0	0	0.002836	0	0
COL20A1	57642	broad.mit.edu	37	20	61959818	61959818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:61959818G>A	ENST00000422202.1	+	33	3856	c.3788G>A	c.(3787-3789)tGg>tAg	p.W1263*	COL20A1_ENST00000358894.6_Nonsense_Mutation_p.W1250*|COL20A1_ENST00000326996.6_Nonsense_Mutation_p.W1282*|COL20A1_ENST00000435874.1_Nonsense_Mutation_p.W1263*			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1250					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTGGAGAATGGGGGCGTGGT	0.701000													11	18					0	0	0.002450	0	0
TNFRSF14	8764	broad.mit.edu	37	1	2493144	2493144	+	Missense_Mutation	SNP	G	G	T	rs147648888		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:2493144G>T	ENST00000355716.4	+	6	883	c.584G>T	c.(583-585)gGg>gTg	p.G195V	TNFRSF14_ENST00000409119.1_3'UTR	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	195					immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GCCGGAGCTGGGACCAGCAGC	0.597000			"""Mis, N, F"""		follicular lymphoma								23	50					9.04412e-07	1.31599e-06	0.004656	1	0
ESPN	83715	broad.mit.edu	37	1	6511766	6511766	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:6511766G>A	ENST00000377828.1	+	9	2187	c.2019G>A	c.(2017-2019)ggG>ggA	p.G673G	ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000416731.1_Silent_p.G107G|ESPN_ENST00000461727.1_Silent_p.G107G	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	673	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		AGAGCAAGGGGCTGACCACAG	0.657000													7	17					0	0	0.001984	0	0
GRID1	2894	broad.mit.edu	37	10	87373338	87373338	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:87373338G>T	ENST00000327946.7	-	15	2512	c.2427C>A	c.(2425-2427)ggC>ggA	p.G809G	GRID1_ENST00000536331.1_Silent_p.G380G	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	809						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGTCACAGCGGCCCATGTGCG	0.612000										Multiple Myeloma(13;0.14)			16	50					5.01169e-05	6.89631e-05	0.004990	1	0
ARHGEF1	9138	broad.mit.edu	37	19	42410694	42410694	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:42410694C>A	ENST00000599846.1	+	28	2870	c.2745C>A	c.(2743-2745)ggC>ggA	p.G915G	ARHGEF1_ENST00000354532.3_Silent_p.G859G|ARHGEF1_ENST00000337665.4_Silent_p.G874G|ARHGEF1_ENST00000378152.4_Intron|ARHGEF1_ENST00000347545.4_Silent_p.G826G			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	859					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TCCCAGGGGGCGGCCCCCTGA	0.677000													7	18					8.12818e-05	0.000110463	0.001984	1	0
HGSNAT	138050	broad.mit.edu	37	8	43025733	43025733	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:43025733G>T	ENST00000458501.2	+	7	723	c.723G>T	c.(721-723)ctG>ctT	p.L241L	HGSNAT_ENST00000379644.4_Silent_p.L213L			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	241					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGAAGGAGCTGGGATCTCCCA	0.473000													12	14					2.27111e-07	3.3793e-07	0.001368	1	0
FAM160A2	84067	broad.mit.edu	37	11	6240220	6240220	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:6240220G>A	ENST00000265978.4	-	7	1610	c.1252C>T	c.(1252-1254)Ctg>Ttg	p.L418L	FAM160A2_ENST00000524416.1_Silent_p.L418L|FAM160A2_ENST00000449352.2_Silent_p.L418L	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	418					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTGCAGCAGGACATCCTCA	0.577000													18	13					0	0	0.006122	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702943	27702943	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:27702943C>A	ENST00000438700.3	-	1	354	c.237G>T	c.(235-237)tcG>tcT	p.S79S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	79					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CGTCCAGCATCGACGGCCGGG	0.716000													9	42					2.17888e-05	3.03202e-05	0.006214	1	0
MYH1	4619	broad.mit.edu	37	17	10404699	10404699	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:10404699C>T	ENST00000226207.5	-	27	3560	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1156						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCACCGGCTTCTTCCAGCCTC	0.622000													83	21					0	0	0.003610	0	0
RXRG	6258	broad.mit.edu	37	1	165376069	165376069	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:165376069C>G	ENST00000359842.5	-	9	1526	c.1224G>C	c.(1222-1224)aaG>aaC	p.K408N		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	408	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GTTCCGGATACTTCTGCTTGG	0.532000													39	39					0	0	0.006999	0	0
RASIP1	54922	broad.mit.edu	37	19	49238578	49238578	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:49238578C>A	ENST00000222145.4	-	4	1258	c.1054G>T	c.(1054-1056)Ggg>Tgg	p.G352W	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	352					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		TCGGCTGCCCCTGGGGCCATG	0.647000													13	12					5.50884e-06	7.79761e-06	0.001368	1	0
WDR33	55339	broad.mit.edu	37	2	128522332	128522332	+	Silent	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:128522332C>A	ENST00000409658.3	-	6	878	c.696G>T	c.(694-696)ctG>ctT	p.L232L	WDR33_ENST00000393006.1_Intron|WDR33_ENST00000322313.4_Intron	NM_001006622.2	NP_001006623.1	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	0					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCTCTGCACCCAGAATACACT	0.398000													24	62					1.22574e-08	1.88048e-08	0.002299	1	0
OR1C1	26188	broad.mit.edu	37	1	247920989	247920989	+	Silent	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:247920989G>T	ENST00000408896.2	-	1	993	c.720C>A	c.(718-720)acC>acA	p.T240T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGCAGCTGCAGGTGGAAACAG	0.527000													28	9					4.22769e-11	6.93848e-11	0.006320	1	0
OR14C36	127066	broad.mit.edu	37	1	248512579	248512579	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:248512579G>T	ENST00000317861.1	+	1	503	c.503G>T	c.(502-504)cGg>cTg	p.R168L		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CCCTTCTGTCGGTCCAACGTT	0.502000													22	31					2.21704e-12	3.7189e-12	0.002780	1	0
OR6T1	219874	broad.mit.edu	37	11	123813682	123813682	+	Silent	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr11:123813682G>A	ENST00000321252.2	-	1	898	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F288F(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAGTGAAGATGAATGGGTTCA	0.517000													34	119					0	0	0.004878	0	0
UNC5D	137970	broad.mit.edu	37	8	35608159	35608159	+	Silent	SNP	G	G	C	rs145027081		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:35608159G>C	ENST00000287272.2	+	12	1808	c.1788G>C	c.(1786-1788)gcG>gcC	p.A596A	UNC5D_ENST00000449677.1_Silent_p.A241A|UNC5D_ENST00000404895.2_Silent_p.A665A|UNC5D_ENST00000453357.2_Silent_p.A660A|UNC5D_ENST00000416672.1_Silent_p.A670A|UNC5D_ENST00000420357.1_Silent_p.A598A			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	665	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACCCCTTTGCGTGTCATGTGC	0.488000													31	67					0	0	0.002445	0	0
GPATCH1	55094	broad.mit.edu	37	19	33588736	33588736	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:33588736G>A	ENST00000170564.2	+	8	1242	c.928G>A	c.(928-930)Gtt>Att	p.V310I		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	310						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GTATGACACTGTTCTGAAGGA	0.453000													57	142					0	0	0.003610	0	0
ATG9A	79065	broad.mit.edu	37	2	220087103	220087103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:220087103G>A	ENST00000409618.1	-	12	2357	c.1918C>T	c.(1918-1920)Cag>Tag	p.Q640*	ATG9A_ENST00000361242.4_Nonsense_Mutation_p.Q640*|ATG9A_ENST00000409422.1_Nonsense_Mutation_p.Q579*|ATG9A_ENST00000396761.2_Nonsense_Mutation_p.Q640*			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	640					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGAGCCCTGCAGGTCTCTG	0.642000													37	24					0	0	0.005524	0	0
CDH7	1005	broad.mit.edu	37	18	63547670	63547670	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:63547670G>T	ENST00000397968.2	+	12	2324	c.1898G>T	c.(1897-1899)cGg>cTg	p.R633L	CDH7_ENST00000323011.3_Missense_Mutation_p.R633L	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	633					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ATGAGAAGACGGAAAAAAGAG	0.438000													9	28					3.09899e-07	4.59729e-07	0.004482	1	0
HECW2	57520	broad.mit.edu	37	2	197184519	197184519	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:197184519C>A	ENST00000260983.2	-	9	1277	c.1095G>T	c.(1093-1095)caG>caT	p.Q365H	HECW2_ENST00000409111.1_Missense_Mutation_p.Q9H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	365					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.Q365H(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TAGAGCACACCTGGCTGTCGT	0.517000													14	43					0.000151284	0.000204472	0.001855	1	0
ZNF521	25925	broad.mit.edu	37	18	22804644	22804644	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr18:22804644G>T	ENST00000361524.3	-	4	3386	c.3238C>A	c.(3238-3240)Ctg>Atg	p.L1080M	ZNF521_ENST00000538137.2_Missense_Mutation_p.L1080M|ZNF521_ENST00000584787.1_Missense_Mutation_p.L860M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1080					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTTTCACCAGATCTTGCTTG	0.542000			T	PAX5	ALL								18	39					9.16793e-09	1.41089e-08	0.004990	1	0
ENPP6	133121	broad.mit.edu	37	4	185012394	185012394	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:185012394G>A	ENST00000296741.2	-	8	1400	c.1259C>T	c.(1258-1260)aCt>aTt	p.T420I		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	420					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		AGGCGGGGCAGTGCTGGCGCG	0.557000													5	22					0	0	0.001168	0	0
CERKL	375298	broad.mit.edu	37	2	182423388	182423388	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:182423388G>T	ENST00000410087.3	-	5	825	c.725C>A	c.(724-726)gCt>gAt	p.A242D	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.A224D|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000339098.5_Missense_Mutation_p.A268D|CERKL_ENST00000374969.2_Intron	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	268	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CAGAAGCAAAGCATGGGCTAC	0.453000													22	99					1.50039e-11	2.4914e-11	0.001882	1	0
RFC4	5984	broad.mit.edu	37	3	186522453	186522453	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:186522453G>C	ENST00000392481.2	-	2	331	c.50C>G	c.(49-51)aCc>aGc	p.T17S	RFC4_ENST00000296273.2_Missense_Mutation_p.T17S|RFC4_ENST00000433496.1_Missense_Mutation_p.T17S	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	17					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TCGATCCTTGGTCAGCGGGGG	0.458000													79	25					0	0	0.003610	0	0
MIER1	57708	broad.mit.edu	37	1	67442278	67442278	+	Splice_Site	SNP	G	G	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:67442278G>T	ENST00000357692.2	+	13	1251	c.993_splice	c.e13-1	p.V332_splice	MIER1_ENST00000371016.1_Splice_Site_p.V332_splice|MIER1_ENST00000371014.1_Splice_Site_p.V368_splice|MIER1_ENST00000355356.3_Splice_Site_p.V315_splice|MIER1_ENST00000355977.6_Splice_Site_p.V252_splice|MIER1_ENST00000401041.1_Splice_Site_p.V368_splice|MIER1_ENST00000401042.3_Splice_Site_p.V315_splice|MIER1_ENST00000371018.3_Splice_Site_p.V332_splice	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	339	SANT.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TTTCTTACAGGTCCGAACAAG	0.333000													28	34					3.65163e-15	6.61983e-15	0.006320	1	0
METTL9	51108	broad.mit.edu	37	16	21623972	21623972	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:21623972G>A	ENST00000358154.3	+	2	430	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	METTL9_ENST00000396014.4_Missense_Mutation_p.V58M	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	58										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		ttAGTGGTATGTGTGCAACAG	0.333000													10	22					0	0	0.006214	0	0
DIDO1	11083	broad.mit.edu	37	20	61542745	61542745	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:61542745C>A	ENST00000266070.4	-	3	545	c.220G>T	c.(220-222)Gtg>Ttg	p.V74L	DIDO1_ENST00000370371.4_Missense_Mutation_p.V74L|DIDO1_ENST00000370366.1_Missense_Mutation_p.V74L|DIDO1_ENST00000354665.4_Missense_Mutation_p.V74L|DIDO1_ENST00000395343.1_Missense_Mutation_p.V74L|DIDO1_ENST00000266071.5_Missense_Mutation_p.V74L|DIDO1_ENST00000395340.1_Missense_Mutation_p.V74L|DIDO1_ENST00000395335.2_Missense_Mutation_p.V74L|DIDO1_ENST00000370368.1_Missense_Mutation_p.V74L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	74					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AACTGCTCCACGCGCTCAGTG	0.711000													18	20					1.33834e-09	2.12585e-09	0.007413	1	0
NLRP13	126204	broad.mit.edu	37	19	56424536	56424536	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:56424536T>A	ENST00000588751.1	-	5	671	c.647A>T	c.(646-648)cAg>cTg	p.Q216L	NLRP13_ENST00000342929.3_Missense_Mutation_p.Q216L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	216							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGTAGGCGCTGCAGTTCCTC	0.512000													37	60					0	0	0.003755	0	0
IFT172	26160	broad.mit.edu	37	2	27676886	27676886	+	Missense_Mutation	SNP	C	C	T	rs141440865		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:27676886C>T	ENST00000260570.3	-	33	3777	c.3674G>A	c.(3673-3675)cGg>cAg	p.R1225Q		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1225					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCTCTGGGCCCGGAGCAGCAG	0.622000													50	81					0	0	0.003610	0	0
TMCO2	127391	broad.mit.edu	37	1	40713763	40713763	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr1:40713763C>T	ENST00000372766.3	+	1	191	c.98C>T	c.(97-99)aCt>aTt	p.T33I	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	33						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTGGGAGAGACTAGTGCACCT	0.398000													39	117					0	0	0.005524	0	0
FBXO41	150726	broad.mit.edu	37	2	73493629	73493644	+	Frame_Shift_Del	DEL	CACCTCCACGGCCCAG	CACCTCCACGGCCCAG	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr2:73493629_73493644delCACCTCCACGGCCCAG	ENST00000521871.1	-	3	1487_1502	c.1072_1087delCTGGGCCGTGGAGGTG	c.(1072-1089)ggfs	p.LGRGGG358fs	FBXO41_ENST00000520530.2_Frame_Shift_Del_p.LGRGGG358fs|FBXO41_ENST00000295133.5_Frame_Shift_Del_p.LGRGGG419fs			Q8TF61	FBX41_HUMAN	F-box protein 41	358						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CCACCGCCCCCACCTCCACGGCCCAGGCTGGCGCTG	0.685													6	4	---	---	---	---					
ARPP21	10777	broad.mit.edu	37	3	35729270	35729270	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr3:35729270delC	ENST00000187397.4	+	6	757	c.301delC	c.(301-303)aafs	p.Q101fs	ARPP21_ENST00000444190.1_Frame_Shift_Del_p.Q101fs|ARPP21_ENST00000337271.5_Frame_Shift_Del_p.Q101fs|ARPP21_ENST00000458225.1_Frame_Shift_Del_p.Q101fs|ARPP21_ENST00000417925.1_Frame_Shift_Del_p.Q101fs	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	101						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTCCAGCCTGCAAGAGGAGGA	0.358													31	63	---	---	---	---					
UBA6-AS1	550112	broad.mit.edu	37	4	68904673	68904673	+	RNA	DEL	G	G	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr4:68904673delG	ENST00000500538.2	+	0	1905																											TCCTACTCTTGAAGGTGATGA	0.458													17	6	---	---	---	---					
CCNB3P1	100131678	broad.mit.edu	37	5	26740826	26740826	+	RNA	DEL	C	C	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:26740826delC	ENST00000506032.1	-	0	125																											GACATAGTGGCAGTGCTGTAC	0.453													13	9	---	---	---	---					
PCDHGA10	56106	broad.mit.edu	37	5	140794944	140794944	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr5:140794944delC	ENST00000398610.2	+	1	2202	c.2202delC	c.(2200-2202)ggfs	p.G735fs	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCAGGAGGCGGCTTGACAG	0.662													67	14	---	---	---	---					
LRFN2	57497	broad.mit.edu	37	6	40399674	40399674	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr6:40399674delC	ENST00000338305.6	-	2	1721	c.1179delG	c.(1177-1179)aafs	p.K393fs		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	393						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGAGGCGGGACTTGGGGGGTG	0.672													11	37	---	---	---	---					
HOXA11	3207	broad.mit.edu	37	7	27222462	27222462	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:27222462delT	ENST00000006015.3	-	2	966	c.895delA	c.(895-897)ttfs	p.I299fs		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	299					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TCTCTGTTAATTTTTTTTTCC	0.448			T	NUP98	CML								7	102	---	---	---	---					
COL1A2	1278	broad.mit.edu	37	7	94044553	94044553	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:94044553delT	ENST00000297268.6	+	30	2206	c.1735delT	c.(1735-1737)ttfs	p.F579fs		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	579					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCATGGTGAGTTTGGTCTCCC	0.348										HNSCC(75;0.22)			48	230	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100391834	100391834	+	RNA	DEL	G	G	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr7:100391834delG	ENST00000542585.1	+	0	8289				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCAGAGCGGGGGAGGTCT	0.632													55	27	---	---	---	---					
MTUS1	57509	broad.mit.edu	37	8	17513510	17513510	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr8:17513510delT	ENST00000381869.3	-	8	3281	c.2808delA	c.(2806-2808)gafs	p.E936fs	MTUS1_ENST00000519263.1_Frame_Shift_Del_p.E936fs|MTUS1_ENST00000297488.6_Frame_Shift_Del_p.E156fs|MTUS1_ENST00000544260.1_Frame_Shift_Del_p.E135fs|MTUS1_ENST00000381861.3_Frame_Shift_Del_p.E237fs|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000400046.1_Frame_Shift_Del_p.E62fs|MTUS1_ENST00000262102.6_Frame_Shift_Del_p.E990fs	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	990						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGACGAATGCTTCATACACTG	0.433													35	42	---	---	---	---					
PRKACG	5568	broad.mit.edu	37	9	71628468	71628468	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:71628468delG	ENST00000377276.2	-	1	571	c.541delC	c.(541-543)tgfs	p.L181fs		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	181	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GTCACCTGCAGGTAGCCCTGC	0.637													19	2	---	---	---	---					
STRBP	55342	broad.mit.edu	37	9	125935997	125935997	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr9:125935997delG	ENST00000447404.2	-	4	653	c.349delC	c.(349-351)tgfs	p.L118fs	STRBP_ENST00000360998.3_Frame_Shift_Del_p.L104fs|STRBP_ENST00000348403.5_Frame_Shift_Del_p.L118fs			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	118	DZF.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GTATTTAACAGGGTCTCTGTG	0.398													60	111	---	---	---	---					
ANKRD30A	91074	broad.mit.edu	37	10	37430891	37430891	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr10:37430891delG	ENST00000374660.1	+	7	997	c.898delG	c.(898-900)aafs	p.E300fs	ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.E300fs|ANKRD30A_ENST00000602533.1_Frame_Shift_Del_p.E300fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	356						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTCAGCAGAAGAAACACCTAG	0.433													18	81	---	---	---	---					
AKAP3	10566	broad.mit.edu	37	12	4736719	4736719	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:4736719delC	ENST00000545990.2	-	5	1873	c.1349delG	c.(1348-1350)gtfs	p.G450fs	AKAP3_ENST00000228850.1_Frame_Shift_Del_p.G450fs	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	450					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AATGTGCTCACCCAGAGTTTT	0.408													67	24	---	---	---	---					
CDKN1B	1027	broad.mit.edu	37	12	12871130	12871131	+	Frame_Shift_Ins	INS	-	-	G			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr12:12871130_12871131insG	ENST00000228872.4	+	1	1073_1074	c.357_358insG	c.(355-360)atgggcfs	p.MG119fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.MG119fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	119					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CGCCTTTAATTGGGGCTCCGGC	0.629													28	43	---	---	---	---					
SECISBP2L	9728	broad.mit.edu	37	15	49284568	49284598	+	Frame_Shift_Del	DEL	TCCAGCACCTCAGGCGCCTCTGCTTCCTCTT	TCCAGCACCTCAGGCGCCTCTGCTTCCTCTT	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr15:49284568_49284598delTCCAGCACCTCAGGCGCCTCTGCTTCCTCTT	ENST00000559471.1	-	18	3412_3442	c.3149_3179delAAGAGGAAGCAGAGGCGCCTGAGGTGCTGGA	c.(3148-3180)ggfs	p.EEEAEAPEVLE1050fs	SECISBP2L_ENST00000261847.3_Frame_Shift_Del_p.EEEAEAPEVLE1005fs	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	1050										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CATCCCTGGCTCCAGCACCTCAGGCGCCTCTGCTTCCTCTTCTCCACTTTG	0.532													9	21	---	---	---	---					
PRKCB	5579	broad.mit.edu	37	16	24231342	24231343	+	Frame_Shift_Ins	INS	-	-	C			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:24231342_24231343insC	ENST00000321728.7	+	17	2099_2100	c.1924_1925insC	c.(1924-1926)cccfs	p.P642fs	PRKCB_ENST00000303531.7_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	642	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TGTGGAACTGACCCCCACTGAT	0.421													14	36	---	---	---	---					
LOC100130700	100130700	broad.mit.edu	37	16	34739662	34739663	+	RNA	INS	-	-	T			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:34739662_34739663insT	ENST00000562591.1	-	0	259_260					NR_034019.1																						CTGTAGTAATATTGATGCTCCA	0.401													5	4	---	---	---	---					
SALL1	6299	broad.mit.edu	37	16	51175948	51175948	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr16:51175948delT	ENST00000251020.4	-	2	218	c.185delA	c.(184-186)agfs	p.K63fs	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	63					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACAGTTCTTCTTGTGGAGCAG	0.483													24	75	---	---	---	---					
NCOR1	9611	broad.mit.edu	37	17	16029437	16029439	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:16029437_16029439delTTC	ENST00000268712.3	-	15	1848_1850	c.1591_1593delGAA	c.(1591-1593)del	p.E531del	NCOR1_ENST00000395851.1_In_Frame_Del_p.E531del|NCOR1_ENST00000395848.1_In_Frame_Del_p.E422del	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	531					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		catctttcttttcttcttctttt	0.271													4	5	---	---	---	---					
MED13	9969	broad.mit.edu	37	17	60072546	60072547	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr17:60072546_60072547insTA	ENST00000397786.2	-	10	2223_2224	c.2147_2148insTA	c.(2146-2148)caafs	p.Q716fs		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	716					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTCACTATTTTGTCTATCTTT	0.361													16	66	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1221314	1221314	+	Frame_Shift_Del	DEL	C	C	-	rs121913321		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:1221314delC	ENST00000326873.7	+	6	2010	c.837delC	c.(835-837)ggfs	p.G279fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	279	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.P281fs*6(2)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGACTGTGGCCCCCCGCTCT	0.607		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			7	0	---	---	---	---					
PLIN4	729359	broad.mit.edu	37	19	4513123	4513123	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:4513123delT	ENST00000301286.3	-	3	806	c.807delA	c.(805-807)aafs	p.K269fs		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	269	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGATGGTTCCTTTGGCCACAT	0.547													9	43	---	---	---	---					
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Frame_Shift_Del	DEL	T	T	-	rs77187934		TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr19:52877717delT	ENST00000597976.1	+	3	325	c.305delT	c.(304-306)atfs	p.I102fs	ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473													2	4	---	---	---	---					
DNMT3B	1789	broad.mit.edu	37	20	31383432	31383457	+	Splice_Site	DEL	CATGCCTTCTTCTTTTCTCAATAGAA	CATGCCTTCTTCTTTTCTCAATAGAA	-			TCGA-78-7536-01A-11D-2063-08	TCGA-78-7536-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc90aed4-4fc8-4d4b-bed7-21a8cbb8a9ee	79b4d8aa-8de9-4af0-8ef0-609725680c1f	g.chr20:31383432_31383457delCATGCCTTCTTCTTTTCTCAATAGAA	ENST00000328111.2	+	12	1573_1575	c.1252_splice	c.e12-1	p.418_splice	DNMT3B_ENST00000353855.2_Splice_Site_p.398_splice|DNMT3B_ENST00000456297.2_Splice_Site_p.322_splice|DNMT3B_ENST00000375623.4_Splice_Site_p.E307_splice|DNMT3B_ENST00000344505.4_Splice_Site_p.398_splice|DNMT3B_ENST00000348286.2_Splice_Site_p.398_splice|DNMT3B_ENST00000443239.3_Splice_Site_p.356_splice|DNMT3B_ENST00000201963.3_Splice_Site_p.410_splice	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	418					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACCTCATCTCATGCCTTCTTCTTTTCTCAATAGAACAAATGGCTT	0.535													11	71	---	---	---	---					
