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
AGRN	375790	broad.mit.edu	37	1	970664	970664	+	Silent	SNP	C	C	A	rs148157593		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:970664C>A	ENST00000379370.2	+	3	521	c.471C>A	c.(469-471)ccC>ccA	p.P157P	AGRN_ENST00000477585.1_3'UTR	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	157	NtA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.P157P(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CAGATAAACCCGGGACCCACT	0.617													6	209	---	---	---	---
CDK11A	728642	broad.mit.edu	37	1	1650857	1650857	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:1650857G>T	ENST00000356200.3	-	3	397	c.163C>A	c.(163-165)Cag>Aag	p.Q55K	CDK11A_ENST00000357760.2_Missense_Mutation_p.Q89K|CDK11A_ENST00000378633.1_Missense_Mutation_p.Q89K|CDK11A_ENST00000404249.3_Missense_Mutation_p.Q89K|CDK11A_ENST00000378638.2_Missense_Mutation_p.Q55K|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q89K|CDK11A_ENST00000378635.3_Missense_Mutation_p.Q89K|RP1-283E3.8_ENST00000598846.1_RNA					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GACATTTGCTGGGGTGGTTTG	0.418													8	392	---	---	---	---
WRAP73	49856	broad.mit.edu	37	1	3548782	3548782	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:3548782C>A	ENST00000378322.3	-	10	1101	c.1043G>T	c.(1042-1044)aGg>aTg	p.R348M	WRAP73_ENST00000270708.7_Missense_Mutation_p.R348M			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	348						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CTGACCGTTCCTTGTCGCCAG	0.512													6	131	---	---	---	---
CCDC27	148870	broad.mit.edu	37	1	3670749	3670749	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:3670749C>A	ENST00000294600.2	+	2	470	c.386C>A	c.(385-387)cCc>cAc	p.P129H		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	129										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGGGTCTTCCCCACGCATCCT	0.587													8	171	---	---	---	---
ZBTB48	3104	broad.mit.edu	37	1	6648255	6648255	+	Splice_Site	SNP	A	A	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:6648255A>T	ENST00000377674.4	+	8	1673	c.1515A>T	c.(1513-1515)caA>caT	p.Q505H		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	505						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TCCGAACCCAAGGTGAGGTAC	0.622													19	34	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10421013	10421013	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:10421013G>T	ENST00000377086.1	+	39	4284	c.4082G>T	c.(4081-4083)tGg>tTg	p.W1361L	KIF1B_ENST00000377081.1_Missense_Mutation_p.W1361L|KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000263934.6_Missense_Mutation_p.W1315L			O60333	KIF1B_HUMAN	kinesin family member 1B	1361					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGCTGTGTGGGATAGCTCT	0.483													6	132	---	---	---	---
EXOSC10	5394	broad.mit.edu	37	1	11159800	11159800	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:11159800G>T	ENST00000544779.1	-	1	94	c.89C>A	c.(88-90)cCg>cAg	p.P30Q	RP4-635E18.6_ENST00000447600.1_RNA|EXOSC10_ENST00000376936.4_Missense_Mutation_p.P30Q|RP4-635E18.6_ENST00000435388.1_RNA|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P30Q			Q01780	EXOSX_HUMAN	exosome component 10	30					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GTCGGCGTCCGGGAAGCCTGG	0.677													4	52	---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14107222	14107222	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:14107222C>A	ENST00000235372.7	+	8	3788	c.2932C>A	c.(2932-2934)Ccg>Acg	p.P978T	PRDM2_ENST00000311066.5_Missense_Mutation_p.P978T|PRDM2_ENST00000413440.1_Missense_Mutation_p.P777T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.P777T	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	978	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACCCTGTCCCCCGGTATTAAC	0.607													6	133	---	---	---	---
ARHGEF19	128272	broad.mit.edu	37	1	16534231	16534231	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:16534231C>A	ENST00000270747.3	-	4	872	c.736G>T	c.(736-738)Ggg>Tgg	p.G246W		NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	246					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCGGTCCCCGCTCATCTCT	0.667													4	76	---	---	---	---
ARHGEF10L	55160	broad.mit.edu	37	1	18023820	18023820	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:18023820C>A	ENST00000361221.3	+	29	3944	c.3785C>A	c.(3784-3786)cCg>cAg	p.P1262Q	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P1035Q|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P1223Q|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P1223Q|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P965Q	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1262					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGGCAGGCCCCGTGTGGGGAG	0.657													5	98	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19436655	19436655	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:19436655G>T	ENST00000375267.2	-	81	12043	c.12040C>A	c.(12040-12042)Ctc>Atc	p.L4014I	UBR4_ENST00000375217.2_Missense_Mutation_p.L4007I|UBR4_ENST00000375254.3_Missense_Mutation_p.L4014I|UBR4_ENST00000375226.2_Missense_Mutation_p.L3990I			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4014					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)		AGGCACATGAGGGTAATGTTT	0.498													5	96	---	---	---	---
MAP3K6	9064	broad.mit.edu	37	1	27690833	27690833	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:27690833C>A	ENST00000374040.3	-	3	793	c.533G>T	c.(532-534)cGg>cTg	p.R178L	MAP3K6_ENST00000493901.1_Missense_Mutation_p.R186L|MAP3K6_ENST00000357582.2_Missense_Mutation_p.R186L			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	186					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACACAGCACCCGACCAGTGGC	0.652													4	89	---	---	---	---
SMPDL3B	27293	broad.mit.edu	37	1	28285189	28285189	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:28285189G>T	ENST00000373894.3	+	8	1399	c.1208G>T	c.(1207-1209)gGg>gTg	p.G403V	SMPDL3B_ENST00000549094.1_Missense_Mutation_p.G355V|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	403					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TACTCTGCTGGGGTCTGCGAC	0.617													7	121	---	---	---	---
KIAA0319L	79932	broad.mit.edu	37	1	35916055	35916055	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:35916055G>T	ENST00000325722.3	-	14	2352	c.2118C>A	c.(2116-2118)ccC>ccA	p.P706P	KIAA0319L_ENST00000373266.4_Silent_p.P143P|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	706	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)				CTGTGCTCGTGGGTAGGGTAA	0.458													5	104	---	---	---	---
GRIK3	2899	broad.mit.edu	37	1	37499693	37499693	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:37499693C>A	ENST00000373091.3	-	1	33	c.17G>T	c.(16-18)cGg>cTg	p.R6L	GRIK3_ENST00000373093.4_Missense_Mutation_p.R6L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	6					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCGGAGGCGCCGCCAGGGAGC	0.751													3	16	---	---	---	---
ZFP69B	65243	broad.mit.edu	37	1	40928286	40928286	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:40928286C>A	ENST00000411995.2	+	6	1005	c.630C>A	c.(628-630)ccC>ccA	p.P210P	ZFP69B_ENST00000361584.3_Silent_p.P108P|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		GGCAAATCCCCCTGATGTGCA	0.413													6	148	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43902871	43902871	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:43902871C>A	ENST00000562955.1	+	42	5893	c.5893C>A	c.(5893-5895)Cgt>Agt	p.R1965S	SZT2_ENST00000372442.1_Missense_Mutation_p.R1123S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2022						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGTGCGCCCCGTGGGTACCT	0.572													7	120	---	---	---	---
DMAP1	55929	broad.mit.edu	37	1	44680396	44680396	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:44680396C>A	ENST00000372289.2	+	3	482	c.219C>A	c.(217-219)ccC>ccA	p.P73P	DMAP1_ENST00000315913.5_Silent_p.P73P|DMAP1_ENST00000361745.6_Silent_p.P73P	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	73					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CACTGCTACCCAGTGACACTG	0.567													5	65	---	---	---	---
TMEM69	51249	broad.mit.edu	37	1	46159036	46159036	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:46159036C>A	ENST00000372025.4	+	3	1360	c.203C>A	c.(202-204)cCc>cAc	p.P68H	TMEM69_ENST00000496366.1_3'UTR	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	68						integral to membrane				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					CATACATCCCCCTGCAGCTTT	0.468													10	407	---	---	---	---
FAAH	2166	broad.mit.edu	37	1	46874198	46874198	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:46874198C>A	ENST00000243167.8	+	8	1103	c.1019C>A	c.(1018-1020)cCg>cAg	p.P340Q	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	340					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	ATGCCCTCCCCGGCCATGAGG	0.617													8	298	---	---	---	---
CYP4X1	260293	broad.mit.edu	37	1	47514236	47514236	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:47514236G>T	ENST00000371901.3	+	10	1457		c.e10-1		CYP4X1_ENST00000538609.1_Splice_Site	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1							endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCCTTTCTTAGGGATCACCGT	0.428													8	334	---	---	---	---
ELAVL4	1996	broad.mit.edu	37	1	50642827	50642827	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:50642827C>T	ENST00000371824.1	+	3	574	c.317C>T	c.(316-318)aCt>aTt	p.T106I	ELAVL4_ENST00000371821.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.T109I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000357083.4_Missense_Mutation_p.T123I|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000371823.4_Missense_Mutation_p.T106I			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	106	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCCATCAACACTTTAAATGGA	0.398													22	47	---	---	---	---
LRP8	7804	broad.mit.edu	37	1	53716447	53716447	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:53716447G>T	ENST00000306052.6	-	17	2692	c.2591C>A	c.(2590-2592)cCa>cAa	p.P864Q	LRP8_ENST00000354412.3_Missense_Mutation_p.P660Q|LRP8_ENST00000465675.1_Missense_Mutation_p.P417Q|LRP8_ENST00000371454.2_Missense_Mutation_p.P864Q|LRP8_ENST00000347547.2_Missense_Mutation_p.P694Q	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	864					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CCTGTAGACTGGGTTGTCAAA	0.463													5	80	---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65138882	65138882	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:65138882C>A	ENST00000371073.2	+	18	2552	c.2552C>A	c.(2551-2553)cCg>cAg	p.P851Q	CACHD1_ENST00000290039.5_Missense_Mutation_p.P800Q|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	851	Cache 2.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTGGCGCACCCGACTCTCATC	0.483													5	207	---	---	---	---
WDR78	79819	broad.mit.edu	37	1	67313297	67313297	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:67313297C>A	ENST00000371026.3	-	8	1216	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D	WDR78_ENST00000431318.1_Missense_Mutation_p.E133D|WDR78_ENST00000371023.3_Missense_Mutation_p.E387D	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	387										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGTGGTCTTCCTCATCTTCAT	0.308													5	68	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74575235	74575235	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:74575235G>T	ENST00000354431.4	-	5	901	c.710C>A	c.(709-711)cCt>cAt	p.P237H	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.P129H|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P237H	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	237	IQ.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GAAAAACACAGGGCTGAATAT	0.318													6	107	---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77510163	77510163	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:77510163G>T	ENST00000477717.1	+	3	771	c.536G>T	c.(535-537)cGg>cTg	p.R179L		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	179					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TACATGCGGCGGGACGGCAAG	0.602													5	114	---	---	---	---
SYDE2	84144	broad.mit.edu	37	1	85655748	85655748	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:85655748G>T	ENST00000341460.5	-	2	1482	c.1433C>A	c.(1432-1434)cCt>cAt	p.P478H		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	478					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)		ACCTGCAAAAGGAGATTTCAA	0.343													6	169	---	---	---	---
WDR47	22911	broad.mit.edu	37	1	109538407	109538407	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:109538407C>A	ENST00000357672.3	-	7	1777	c.1402G>T	c.(1402-1404)Gag>Tag	p.E468*	WDR47_ENST00000369962.3_Nonsense_Mutation_p.E496*|WDR47_ENST00000361054.3_Nonsense_Mutation_p.E468*|WDR47_ENST00000369965.4_Nonsense_Mutation_p.E497*|WDR47_ENST00000400794.3_Nonsense_Mutation_p.E504*			O94967	WDR47_HUMAN	WD repeat domain 47	496	Gln-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GCTGATACCTCATTACCAAGG	0.353													6	194	---	---	---	---
CYB561D1	284613	broad.mit.edu	37	1	110037802	110037802	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:110037802G>T	ENST00000430195.2	+	3	315	c.290G>T	c.(289-291)cGg>cTg	p.R97L	CYB561D1_ENST00000393709.3_Intron|CYB561D1_ENST00000369868.3_Intron|CYB561D1_ENST00000528785.1_Splice_Site_p.A62A|CYB561D1_ENST00000527072.1_Intron|CYB561D1_ENST00000310611.4_Splice_Site_p.R97L|CYB561D1_ENST00000496961.1_Splice_Site_p.A62A|CYB561D1_ENST00000533024.1_Splice_Site_p.R18L|CYB561D1_ENST00000420578.2_Splice_Site_p.A62A			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	0	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGGCCTTGGCGGTGAGTTTAG	0.493													7	291	---	---	---	---
OLFML3	56944	broad.mit.edu	37	1	114524121	114524121	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:114524121C>A	ENST00000369551.1	+	4	1179	c.891C>A	c.(889-891)ccC>ccA	p.P297P	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Silent_p.P317P|OLFML3_ENST00000393300.2_Silent_p.P297P			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	317	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		CACCATGTCCCAGAGAGAATG	0.572													5	72	---	---	---	---
LOC645166	645166	broad.mit.edu	37	1	148932875	148932875	+	RNA	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:148932875G>T	ENST00000539543.1	+	0	131					NR_027355.2																						GGTGGGAGACGGGTGAGGTAC	0.632													6	155	---	---	---	---
BNIPL	149428	broad.mit.edu	37	1	151011338	151011338	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:151011338C>A	ENST00000295294.7	+	4	632	c.23C>A	c.(22-24)cCa>cAa	p.P8Q	BNIPL_ENST00000368931.3_Missense_Mutation_p.P90Q	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	90					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTTCTGCCCCAGAGTTGCGG	0.577													5	62	---	---	---	---
PIP5K1A	8394	broad.mit.edu	37	1	151204728	151204728	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:151204728G>T	ENST00000409426.1	+	5	782	c.337G>T	c.(337-339)Ggg>Tgg	p.G113W	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.G113W|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.G125W|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.G112W			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	125	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCACAGTGAAGGGAGCAACCT	0.522													6	151	---	---	---	---
ZNF687	57592	broad.mit.edu	37	1	151262651	151262651	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:151262651C>A	ENST00000368879.2	+	7	3116	c.3018C>A	c.(3016-3018)ccC>ccA	p.P1006P		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1006					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTCCGCCCCCAGCCTGAGGC	0.602													6	119	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152279709	152279709	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:152279709C>A	ENST00000368799.1	-	3	7688	c.7653G>T	c.(7651-7653)caG>caT	p.Q2551H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2551	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)			CTGATTGTCCCTGGCCCACCT	0.587									Ichthyosis				8	324	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152281407	152281407	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:152281407G>T	ENST00000368799.1	-	3	5990	c.5955C>A	c.(5953-5955)tcC>tcA	p.S1985S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1985	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)			GTCCACGAGAGGAAGACTCTG	0.577									Ichthyosis				11	647	---	---	---	---
CRNN	49860	broad.mit.edu	37	1	152382841	152382841	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:152382841G>T	ENST00000271835.3	-	3	779	c.717C>A	c.(715-717)acC>acA	p.T239T	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	239	Gln-rich.				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)			CCACAGTCTGGGTGGCACCTG	0.597													9	321	---	---	---	---
PGLYRP4	57115	broad.mit.edu	37	1	153318593	153318593	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:153318593G>T	ENST00000368739.3	-	3	482	c.124C>A	c.(124-126)Cag>Aag	p.Q42K	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.Q42K|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	42					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGTGAGCTGGGAGATGTTC	0.453													8	283	---	---	---	---
INTS3	65123	broad.mit.edu	37	1	153735803	153735803	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:153735803C>A	ENST00000456435.1	+	16	2299	c.1113C>A	c.(1111-1113)tcC>tcA	p.S371S	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.S577S|INTS3_ENST00000512605.1_Silent_p.S371S|INTS3_ENST00000318967.2_Silent_p.S577S			Q68E01	INT3_HUMAN	integrator complex subunit 3	578					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGATGAGTCCCTGAGGGACA	0.512													6	139	---	---	---	---
NES	10763	broad.mit.edu	37	1	156640356	156640356	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:156640356C>A	ENST00000368223.3	-	4	3756	c.3624G>T	c.(3622-3624)gaG>gaT	p.E1208D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1208	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCAGCTTCCTCTGACCCCA	0.647													6	134	---	---	---	---
INSRR	3645	broad.mit.edu	37	1	156811571	156811571	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:156811571C>A	ENST00000368195.3	-	20	3809	c.3413G>T	c.(3412-3414)cGg>cTg	p.R1138L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1138	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATACACGTCCCGAGTCATCCC	0.602													6	154	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158639501	158639501	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:158639501C>A	ENST00000368147.4	-	13	1855	c.1675G>T	c.(1675-1677)Ggg>Tgg	p.G559W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.G559W(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGACATACCCCGTCACGGATA	0.433													7	259	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687669	158687669	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:158687669G>T	ENST00000368146.1	-	1	284	c.285C>A	c.(283-285)ccC>ccA	p.P95P	OR6K3_ENST00000368145.1_Silent_p.P79P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGAGCATCTTGGGAATGGTGG	0.453													8	259	---	---	---	---
PEX19	5824	broad.mit.edu	37	1	160254884	160254884	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:160254884C>A	ENST00000368072.5	-	1	52	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_5'UTR|DCAF8_ENST00000556710.1_5'UTR|PEX19_ENST00000440949.3_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTTCGGCCCCGACACTACAG	0.632													5	112	---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162313729	162313729	+	Silent	SNP	A	A	G			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:162313729A>G	ENST00000361897.5	+	6	960	c.558A>G	c.(556-558)ggA>ggG	p.G186G	NOS1AP_ENST00000530878.1_Silent_p.G181G	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	186	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGGAAGATGGAGAGAGCGAGA	0.587													3	66	---	---	---	---
RCSD1	92241	broad.mit.edu	37	1	167663439	167663439	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:167663439C>A	ENST00000367854.3	+	5	705	c.374C>A	c.(373-375)cCc>cAc	p.P125H	RCSD1_ENST00000537350.1_Missense_Mutation_p.P95H	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	125										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCTTCTACCCCCAGCAGCCCT	0.587													6	74	---	---	---	---
LAMC1	3915	broad.mit.edu	37	1	183072514	183072514	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:183072514C>A	ENST00000258341.4	+	2	727	c.470C>A	c.(469-471)cCg>cAg	p.P157Q		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	157	Laminin N-terminal.				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)	ACCAGCCGCCCGGAGAGCTTT	0.493													5	213	---	---	---	---
LAMC2	3918	broad.mit.edu	37	1	183177030	183177030	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:183177030G>T	ENST00000264144.4	+	2	159	c.94G>T	c.(94-96)Ggg>Tgg	p.G32W	LAMC2_ENST00000493293.1_Missense_Mutation_p.G32W	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	32	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGATTGCAATGGGAAGTCCAG	0.423													6	181	---	---	---	---
RGL1	23179	broad.mit.edu	37	1	183881372	183881372	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:183881372C>A	ENST00000304685.4	+	16	2273	c.1824C>A	c.(1822-1824)ccC>ccA	p.P608P	RGL1_ENST00000539189.1_Silent_p.P544P|RGL1_ENST00000536277.1_Silent_p.P571P|RGL1_ENST00000360851.3_Silent_p.P573P	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1		Ser-rich.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCATTACTCCCATGGACACCC	0.527													5	43	---	---	---	---
PTGS2	5743	broad.mit.edu	37	1	186646027	186646027	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:186646027C>A	ENST00000367468.5	-	6	797	c.661G>T	c.(661-663)Ggt>Tgt	p.G221C	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	221					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	AGAGTTTCACCGTAAATATGA	0.313													5	212	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197094066	197094066	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:197094066C>A	ENST00000367409.4	-	12	3358	c.3102G>T	c.(3100-3102)aaG>aaT	p.K1034N	ASPM_ENST00000367408.1_Missense_Mutation_p.K284N|ASPM_ENST00000294732.7_Missense_Mutation_p.K1034N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1034	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCACAATATCCTTAGATAGAA	0.323													6	144	---	---	---	---
DDX59	83479	broad.mit.edu	37	1	200613506	200613506	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:200613506G>T	ENST00000331314.6	-	8	1949	c.1736C>A	c.(1735-1737)cCa>cAa	p.P579Q	DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	579	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ATGAAGGTATGGGGAATTTAA	0.358													7	185	---	---	---	---
PPP1R15B	84919	broad.mit.edu	37	1	204378927	204378927	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:204378927C>A	ENST00000367188.4	-	1	1992	c.1613G>T	c.(1612-1614)gGg>gTg	p.G538V	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	538					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			ATCTTCCTCCCCAGAACTATG	0.458													6	56	---	---	---	---
SLC26A9	115019	broad.mit.edu	37	1	205901876	205901876	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:205901876G>T	ENST00000367135.3	-	4	443	c.330C>A	c.(328-330)ccC>ccA	p.P110P	SLC26A9_ENST00000367134.2_Silent_p.P110P|SLC26A9_ENST00000340781.4_Silent_p.P110P	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	110						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGGTCAGGAGGGGGAAGAAGG	0.592													6	49	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215844538	215844538	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:215844538G>T	ENST00000366943.2	-	64	14295	c.13909C>A	c.(13909-13911)Cct>Act	p.P4637T	USH2A_ENST00000307340.3_Missense_Mutation_p.P4637T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4637	Fibronectin type-III 32.				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)		AGATGTGGAGGGGGTTGCATC	0.478										HNSCC(13;0.011)			6	108	---	---	---	---
LBR	3930	broad.mit.edu	37	1	225611726	225611726	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:225611726C>A	ENST00000338179.2	-	2	177	c.52G>T	c.(52-54)Ggg>Tgg	p.G18W	LBR_ENST00000272163.4_Missense_Mutation_p.G18W	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	18	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AGTGAACTCCCAGGCCATCGA	0.373													10	494	---	---	---	---
SDE2	163859	broad.mit.edu	37	1	226175877	226175877	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:226175877G>T	ENST00000272091.7	-	6	872	c.854C>A	c.(853-855)cCg>cAg	p.P285Q		NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		GTCAGTCACCGGGATCTGCAG	0.502													7	185	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228462475	228462475	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:228462475G>T	ENST00000570156.2	+	24	7085	c.7011G>T	c.(7009-7011)ctG>ctT	p.L2337L	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L1962L|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000359599.6_Silent_p.L809L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.L1962L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1322	Ig-like 23.				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)				ACCTGGTGCTGGAGGACGCGG	0.647													4	14	---	---	---	---
WDR64	128025	broad.mit.edu	37	1	241958523	241958523	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:241958523C>A	ENST00000366552.2	+	25	3189	c.2982C>A	c.(2980-2982)ccC>ccA	p.P994P	WDR64_ENST00000437684.2_Silent_p.P827P	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	994										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GAAGATATCCCTTGGAAGGTT	0.443													6	141	---	---	---	---
CNST	163882	broad.mit.edu	37	1	246784922	246784922	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:246784922C>A	ENST00000366513.4	+	3	840	c.571C>A	c.(571-573)Ctt>Att	p.L191I	CNST_ENST00000366512.3_Missense_Mutation_p.L191I|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	191					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AGCACTTCCCCTTTGCCTTCA	0.468													8	169	---	---	---	---
OR2L8	391190	broad.mit.edu	37	1	248112853	248112853	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:248112853G>T	ENST00000357191.3	+	1	694	c.694G>T	c.(694-696)Ggg>Tgg	p.G232W	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	232					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)			ATCTGCAGAAGGGAGGAAGAA	0.453													6	160	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1667464	1667464	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:1667464G>T	ENST00000252804.4	-	12	1530	c.1480C>A	c.(1480-1482)Ctc>Atc	p.L494I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	494	Ig-like C2-type 3.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGTCGTGGAGGGCAACACCA	0.622													6	117	---	---	---	---
ROCK2	9475	broad.mit.edu	37	2	11367418	11367418	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:11367418C>A	ENST00000315872.6	-	6	1278	c.830G>T	c.(829-831)tGg>tTg	p.W277L	ROCK2_ENST00000401753.1_Missense_Mutation_p.W34L	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	277	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TACAGACCACCAATCACATTC	0.368													7	203	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27688726	27688726	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:27688726C>A	ENST00000260570.3	-	17	1819	c.1716G>T	c.(1714-1716)cgG>cgT	p.R572R		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	572					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)					TTCCCCCGCCCCGCTCCAGAC	0.488													9	407	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27804602	27804602	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:27804602C>A	ENST00000408964.2	+	1	5214	c.5163C>A	c.(5161-5163)ccC>ccA	p.P1721P		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1721	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCGCAGTCCCGCTCGGAGGA	0.567													7	263	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27804794	27804794	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:27804794C>A	ENST00000408964.2	+	1	5406	c.5355C>A	c.(5353-5355)ccC>ccA	p.P1785P	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1785	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCACAGTCCCTCAGAGAAAA	0.542													7	234	---	---	---	---
PLEKHH2	130271	broad.mit.edu	37	2	43939470	43939470	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:43939470C>A	ENST00000282406.4	+	15	2518	c.2408C>A	c.(2407-2409)cCa>cAa	p.P803Q		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	803						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTGCCAACCCACTTTCCCTG	0.468													5	81	---	---	---	---
OTX1	5013	broad.mit.edu	37	2	63280185	63280185	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:63280185C>A	ENST00000366671.3	+	3	336	c.60C>A	c.(58-60)ccC>ccA	p.P20P	OTX1_ENST00000282549.2_Silent_p.P20P	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	20						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P20P(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					TGGCCGGGCCCGCCATGGACC	0.657													5	154	---	---	---	---
LGALSL	29094	broad.mit.edu	37	2	64683534	64683534	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:64683534G>T	ENST00000238875.5	+	4	764	c.310G>T	c.(310-312)Ggg>Tgg	p.G104W	LGALSL_ENST00000409537.2_Intron	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	104	Galectin.					intracellular	sugar binding										TTGTATATCTGGGGAGAGGGG	0.527													8	277	---	---	---	---
CEP68	23177	broad.mit.edu	37	2	65298930	65298930	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:65298930C>A	ENST00000377990.2	+	3	903	c.700C>A	c.(700-702)Cag>Aag	p.Q234K	CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.Q234K|CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.Q234K	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	234					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGTCGTCCCCCAGGAACCTTC	0.652													8	107	---	---	---	---
POLR1A	25885	broad.mit.edu	37	2	86257427	86257427	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:86257427C>A	ENST00000263857.6	-	31	5049	c.4671G>T	c.(4669-4671)aaG>aaT	p.K1557N	POLR1A_ENST00000409681.1_Missense_Mutation_p.K1496N			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1557					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGTGATGCCCTTGGTCGCAT	0.478													7	108	---	---	---	---
KDM3A	55818	broad.mit.edu	37	2	86693619	86693619	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:86693619G>T	ENST00000409556.1	+	11	1497	c.1132G>T	c.(1132-1134)Gga>Tga	p.G378*	KDM3A_ENST00000542128.1_Nonsense_Mutation_p.G326*|KDM3A_ENST00000312912.5_Nonsense_Mutation_p.G378*|KDM3A_ENST00000409064.1_Nonsense_Mutation_p.G378*			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	378					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GATTGGAACTGGAGACTTGAA	0.433													6	218	---	---	---	---
IGKV3-7	28915	broad.mit.edu	37	2	89278096	89278096	+	RNA	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:89278096G>T	ENST00000390247.2	-	0	335																											GAACCTGGCTGGGATGCTAGT	0.537													6	139	---	---	---	---
ZNF514	84874	broad.mit.edu	37	2	95815602	95815602	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:95815602C>A	ENST00000295208.2	-	5	1090	c.628G>T	c.(628-630)Ggg>Tgg	p.G210W	ZNF514_ENST00000411425.1_Missense_Mutation_p.G210W	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						AAGGACTTCCCACACTCATTA	0.443													6	151	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98451389	98451389	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:98451389C>A	ENST00000186436.5	-	9	1033		c.e9-1		TMEM131_ENST00000425805.2_Splice_Site	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAGGAATTTCCTGACAAGTTA	0.368													6	167	---	---	---	---
IL1RL2	8808	broad.mit.edu	37	2	102804319	102804319	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:102804319G>T	ENST00000441515.2	+	2	81	c.72G>T	c.(70-72)ccG>ccT	p.P24P	IL1RL2_ENST00000264257.2_5'UTR|IL1RL2_ENST00000539491.1_5'UTR|IL1RL2_ENST00000481806.1_3'UTR			Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	0	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CTTGCAGCCCGGTTTGGGGAT	0.652													5	103	---	---	---	---
RGPD4	285190	broad.mit.edu	37	2	108487617	108487617	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:108487617G>T	ENST00000408999.3	+	20	3234	c.3157G>T	c.(3157-3159)Gga>Tga	p.G1053*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.G1053*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1053	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACTTGTAATAGGAGAAGAAGG	0.393													12	856	---	---	---	---
ANAPC1	64682	broad.mit.edu	37	2	112620054	112620054	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:112620054T>C	ENST00000341068.3	-	10	1946	c.1174A>G	c.(1174-1176)Aat>Gat	p.N392D		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	392					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AAGGAGCCATTAGAATTACTA	0.378													6	24	---	---	---	---
MAP3K2	10746	broad.mit.edu	37	2	128066229	128066229	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:128066229C>A	ENST00000409947.1	-	16	1848	c.1566G>T	c.(1564-1566)acG>acT	p.T522T	MAP3K2_ENST00000344908.5_Silent_p.T522T			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	522	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		ATGGTGTGCCCGTGACAGACT	0.488													7	348	---	---	---	---
MAP3K2	10746	broad.mit.edu	37	2	128079650	128079650	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:128079650G>T	ENST00000409947.1	-	12	1299	c.1017C>A	c.(1015-1017)acC>acA	p.T339T	MAP3K2_ENST00000344908.5_Silent_p.T339T			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	339					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TGTCCATTACGGTCAAAGTAG	0.378													3	25	---	---	---	---
MGAT5	4249	broad.mit.edu	37	2	135076250	135076250	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:135076250C>A	ENST00000409645.1	+	5	765	c.513C>A	c.(511-513)ccC>ccA	p.P171P	MGAT5_ENST00000281923.2_Silent_p.P171P			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	171					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GTTCAGATCCCTGCTACGCAG	0.512													7	236	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	137928433	137928433	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:137928433G>T	ENST00000409968.1	+	7	1826	c.1648G>T	c.(1648-1650)Ggg>Tgg	p.G550W	THSD7B_ENST00000413152.2_Missense_Mutation_p.G519W|THSD7B_ENST00000272643.3_Missense_Mutation_p.G550W|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR					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)		GGCATCAGAAGGGATCTGTTT	0.537													5	50	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145156365	145156365	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:145156365G>T	ENST00000558170.2	-	8	3573	c.2389C>A	c.(2389-2391)Cac>Aac	p.H797N	ZEB2_ENST00000303660.4_Missense_Mutation_p.H797N|ZEB2_ENST00000409487.3_Missense_Mutation_p.H797N|ZEB2_ENST00000539609.3_Missense_Mutation_p.H773N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	797						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAACTACTGTGGGAGTTTTTA	0.393													7	185	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152370886	152370886	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:152370886C>A	ENST00000427231.2	-	159	23275	c.23073G>T	c.(23071-23073)atG>atT	p.M7691I	NEB_ENST00000603639.1_Missense_Mutation_p.M7691I|NEB_ENST00000604864.1_Missense_Mutation_p.M7691I|NEB_ENST00000397345.3_Missense_Mutation_p.M7691I|NEB_ENST00000172853.10_Missense_Mutation_p.M5990I|NEB_ENST00000409198.1_Missense_Mutation_p.M5990I	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	5990					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGTATCTTCCATTTCAGTGA	0.443													7	320	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152487817	152487817	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:152487817C>A	ENST00000427231.2	-	66	9660	c.9458G>T	c.(9457-9459)tGg>tTg	p.W3153L	NEB_ENST00000603639.1_Missense_Mutation_p.W3153L|NEB_ENST00000604864.1_Missense_Mutation_p.W3153L|NEB_ENST00000397345.3_Missense_Mutation_p.W3153L|NEB_ENST00000172853.10_Intron|NEB_ENST00000409198.1_Intron	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	3153					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATGGGGACCCAGCCAATGCC	0.448													6	78	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166852624	166852624	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:166852624C>A	ENST00000423058.2	-	24	4497	c.4480G>T	c.(4480-4482)Gga>Tga	p.G1494*	SCN1A_ENST00000375405.3_Nonsense_Mutation_p.G1483*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.G1494*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.G1466*|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1494						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTTGACCTCCAAAGTATAGA	0.308													5	91	---	---	---	---
SLC25A12	8604	broad.mit.edu	37	2	172683358	172683358	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:172683358G>T	ENST00000422440.2	-	9	917	c.880C>A	c.(880-882)Cca>Aca	p.P294T	SLC25A12_ENST00000392592.4_Missense_Mutation_p.P187T	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	294					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TCAGCCAATGGGGCTATTCTC	0.403													6	116	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197946386	197946386	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:197946386C>A	ENST00000328737.2	-	15	1522	c.1446G>T	c.(1444-1446)aaG>aaT	p.K482N	ANKRD44_ENST00000282272.8_Missense_Mutation_p.K499N|ANKRD44_ENST00000450567.1_Missense_Mutation_p.K482N|ANKRD44_ENST00000337207.5_Missense_Mutation_p.K482N|ANKRD44_ENST00000409153.1_Missense_Mutation_p.K507N|ANKRD44_ENST00000539527.1_Missense_Mutation_p.K435N			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	507							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTTCCTTTTCCTTCAGCTCCC	0.408													8	287	---	---	---	---
ATIC	471	broad.mit.edu	37	2	216213941	216213941	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:216213941C>A	ENST00000435675.1	+	14	2016	c.1625C>A	c.(1624-1626)cCt>cAt	p.P542H	ATIC_ENST00000236959.9_Missense_Mutation_p.P543H|ATIC_ENST00000540518.1_Missense_Mutation_p.P484H			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	543					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GCCTTCTTCCCTTTCCGAGAT	0.433			T	ALK	ALCL								6	88	---	---	---	---
CYP27A1	1593	broad.mit.edu	37	2	219677402	219677402	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:219677402C>A	ENST00000258415.4	+	4	1201	c.774C>A	c.(772-774)ccC>ccA	p.P258P		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	258					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CCTTCCTCCCCAAGTGGACTC	0.572													10	379	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225657754	225657754	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:225657754G>T	ENST00000409592.3	-	47	5343	c.5230C>A	c.(5230-5232)Ctg>Atg	p.L1744M	DOCK10_ENST00000258390.7_Missense_Mutation_p.L1750M			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1750	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCCGAGAGCAGGGATGCTGTG	0.443													8	242	---	---	---	---
DNER	92737	broad.mit.edu	37	2	230450627	230450627	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:230450627C>A	ENST00000341772.4	-	4	928	c.794G>T	c.(793-795)gGg>gTg	p.G265V	DNER_ENST00000482831.1_5'UTR	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	265					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)		GACCAGTCCCCCTGAAGCCTG	0.517													6	82	---	---	---	---
ALPPL2	251	broad.mit.edu	37	2	233273012	233273012	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:233273012C>A	ENST00000295453.3	+	6	736	c.684C>A	c.(682-684)ccC>ccA	p.P228P		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	228					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	ACATGTTTCCCATGGGGACCC	0.617													6	116	---	---	---	---
AGAP1	116987	broad.mit.edu	37	2	236617868	236617868	+	Missense_Mutation	SNP	C	C	A	rs139445824	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:236617868C>A	ENST00000304032.8	+	2	789	c.209C>A	c.(208-210)cCg>cAg	p.P70Q	AGAP1_ENST00000409457.1_Missense_Mutation_p.P70Q|AGAP1_ENST00000409538.1_Missense_Mutation_p.P335Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.P70Q	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CGATCTGTCCCGGAGCTCAAA	0.562													5	179	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238266526	238266526	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:238266526C>A	ENST00000295550.4	-	22	6924		c.e22-1		COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.?(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGGGTTACCCTGAAAGCAAC	0.527													7	208	---	---	---	---
STK25	10494	broad.mit.edu	37	2	242438544	242438544	+	Missense_Mutation	SNP	C	C	A	rs139865238		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:242438544C>A	ENST00000316586.4	-	7	980	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W	STK25_ENST00000535007.1_Missense_Mutation_p.G117W|STK25_ENST00000401869.1_Missense_Mutation_p.G211W|STK25_ENST00000405883.3_Missense_Mutation_p.G134W|STK25_ENST00000405585.1_Missense_Mutation_p.G134W|STK25_ENST00000403346.3_Missense_Mutation_p.G211W|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000543554.1_Missense_Mutation_p.G117W	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	211	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GGAGGCTCCCCCTTGGCCAGC	0.617													5	55	---	---	---	---
SUMF1	285362	broad.mit.edu	37	3	4452617	4452617	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:4452617C>A	ENST00000272902.5	-	7	921	c.886G>T	c.(886-888)Ggg>Tgg	p.G296W	SUMF1_ENST00000458465.2_Missense_Mutation_p.G164W|SUMF1_ENST00000383843.5_Missense_Mutation_p.G271W|SUMF1_ENST00000405420.2_Missense_Mutation_p.G296W|SUMF1_ENST00000534863.1_Missense_Mutation_p.G296W	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	296						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CATGCGTTCCCCACTATGTTG	0.413													7	219	---	---	---	---
THUMPD3	25917	broad.mit.edu	37	3	9412787	9412787	+	Missense_Mutation	SNP	C	C	A	rs150258248		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:9412787C>A	ENST00000345094.3	+	4	708	c.374C>A	c.(373-375)cCa>cAa	p.P125Q	THUMPD3_ENST00000452837.2_Missense_Mutation_p.P125Q|THUMPD3_ENST00000515662.2_Missense_Mutation_p.P125Q|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	125							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GGAAAACTCCCATGGTCAAAC	0.323													6	186	---	---	---	---
XPC	7508	broad.mit.edu	37	3	14200143	14200143	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:14200143G>T	ENST00000285021.7	-	9	1454	c.1240C>A	c.(1240-1242)Cag>Aag	p.Q414K	XPC_ENST00000449060.2_Missense_Mutation_p.Q377K	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	414	Arg/Lys-rich (basic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGACGTCGCTGGGTTGCCTTC	0.602			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	198	---	---	---	---
BTD	686	broad.mit.edu	37	3	15677018	15677018	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:15677018C>A	ENST00000383778.4	+	2	430	c.72C>A	c.(70-72)acC>acA	p.T24T	BTD_ENST00000482824.1_3'UTR|BTD_ENST00000449107.1_Silent_p.T46T|BTD_ENST00000303498.5_Silent_p.T44T|BTD_ENST00000437172.1_Silent_p.T46T	NM_001281725.1	NP_001268654.1	P43251	BTD_HUMAN	biotinidase	44					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GAGCCCACACCGGGGAGGAGA	0.532													5	151	---	---	---	---
TRIM71	131405	broad.mit.edu	37	3	32915352	32915352	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:32915352C>A	ENST00000383763.5	+	2	958	c.895C>A	c.(895-897)Cgt>Agt	p.R299S		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCCATCTGTCGTGAGTGCAC	0.592													6	409	---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37323637	37323637	+	Silent	SNP	C	C	A	rs150573420		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:37323637C>A	ENST00000361924.2	+	3	725	c.351C>A	c.(349-351)ccC>ccA	p.P117P	GOLGA4_ENST00000444882.1_Silent_p.P117P|GOLGA4_ENST00000356847.4_Silent_p.P139P|GOLGA4_ENST00000435830.2_3'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	117					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTGATCCACCCTCTGATATGG	0.448													6	128	---	---	---	---
ACAA1	30	broad.mit.edu	37	3	38164548	38164548	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:38164548G>T	ENST00000333167.8	-	12	1437	c.1265C>A	c.(1264-1266)cCt>cAt	p.P422H	ACAA1_ENST00000301810.7_Missense_Mutation_p.P329H|ACAA1_ENST00000480865.1_5'UTR|DLEC1_ENST00000308059.6_3'UTR|ACAA1_ENST00000450296.1_Missense_Mutation_p.P381H	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	422					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		TCAGTTCCCAGGGTATTCAAA	0.542													6	110	---	---	---	---
CCR2	729230	broad.mit.edu	37	3	46399335	46399335	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:46399335G>T	ENST00000292301.4	+	2	802	c.317G>T	c.(316-318)tGg>tTg	p.W106L	CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.W106L|CCR2_ENST00000400888.2_Missense_Mutation_p.W106L	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	106					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GCAAATGAGTGGGTCTTTGGG	0.443													8	439	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47163303	47163303	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:47163303C>A	ENST00000409792.3	-	3	2865	c.2823G>T	c.(2821-2823)aaG>aaT	p.K941N		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAGCAAATCCCTTTCCTGAAT	0.408			"""N, F, S, Mis"""		clear cell renal carcinoma								6	145	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48612668	48612668	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:48612668C>A	ENST00000328333.8	-	74	6295	c.6188G>T	c.(6187-6189)cGg>cTg	p.R2063L	COL7A1_ENST00000454817.1_Missense_Mutation_p.R2031L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2063	Triple-helical region.		R -> W (in HS-DEB; also in a mild form).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.R2063Q(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTCTCTCCCCGTTCTCCCTG	0.632													6	149	---	---	---	---
TEX264	51368	broad.mit.edu	37	3	51733489	51733489	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:51733489C>A	ENST00000415259.1	+	4	1629	c.548C>A	c.(547-549)cCa>cAa	p.P183Q	TEX264_ENST00000341333.5_Missense_Mutation_p.P183Q|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000395057.1_Missense_Mutation_p.P183Q|TEX264_ENST00000457573.1_Missense_Mutation_p.P183Q|TEX264_ENST00000416589.1_Missense_Mutation_p.P183Q			Q9Y6I9	TX264_HUMAN	testis expressed 264	183						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TTCATGTGCCCACTGGCACGG	0.557													7	168	---	---	---	---
LINC00696	100128378	broad.mit.edu	37	3	52097350	52097350	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:52097350C>A	ENST00000541313.1	-	1	217	c.218G>T	c.(217-219)tGg>tTg	p.W73L																								TAATCCATCCCAGTACTCAAT	0.542													6	137	---	---	---	---
NISCH	11188	broad.mit.edu	37	3	52526356	52526356	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:52526356C>A	ENST00000345716.4	+	21	4507	c.4373C>A	c.(4372-4374)cCg>cAg	p.P1458Q	NISCH_ENST00000479054.1_Missense_Mutation_p.P1458Q	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1458					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCAGGTGGCCCGGCTAGAGCC	0.627													7	292	---	---	---	---
PTPRG	5793	broad.mit.edu	37	3	62142882	62142882	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:62142882C>A	ENST00000474889.1	+	7	1201	c.824C>A	c.(823-825)cCc>cAc	p.P275H	PTPRG_ENST00000295874.10_Missense_Mutation_p.P275H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	275	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGACCCGTCCCCATCTCTTAC	0.483													5	77	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433778	73433778	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:73433778G>T	ENST00000263666.4	-	10	2053	c.1939C>A	c.(1939-1941)Cgc>Agc	p.R647S	PDZRN3_ENST00000535920.1_Missense_Mutation_p.R369S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R304S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R304S|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R364S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	647							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGGAGCTCGCGGAAGCGCTCG	0.662													5	114	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73440205	73440205	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:73440205C>A	ENST00000263666.4	-	6	1431	c.1317G>T	c.(1315-1317)acG>acT	p.T439T	PDZRN3_ENST00000535920.1_Silent_p.T161T|PDZRN3_ENST00000466780.1_Silent_p.T96T|PDZRN3_ENST00000462146.2_Silent_p.T96T|PDZRN3_ENST00000479530.1_Silent_p.T156T|PDZRN3_ENST00000466348.1_5'UTR	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	439	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTTCATCGTCCGTCCGGTAGC	0.448													7	375	---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74414719	74414719	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:74414719C>A	ENST00000263665.6	-	8	1108	c.1081G>T	c.(1081-1083)Gag>Tag	p.E361*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	361	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TACCTTACCTCTAGCACCAGG	0.498													8	316	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77614158	77614158	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:77614158T>A	ENST00000461745.1	+	12	2636	c.1736T>A	c.(1735-1737)cTc>cAc	p.L579H	ROBO2_ENST00000487694.3_Missense_Mutation_p.L595H|ROBO2_ENST00000332191.8_Missense_Mutation_p.L579H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	579	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGACCACCCTCTATACTGTA	0.463													33	44	---	---	---	---
TOPBP1	11073	broad.mit.edu	37	3	133342926	133342926	+	Silent	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:133342926T>C	ENST00000260810.5	-	17	3029	c.2898A>G	c.(2896-2898)gtA>gtG	p.V966V		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	966	BRCT 6.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAACAATGTGTACTCCTCTTT	0.383								Other conserved DNA damage response genes					21	43	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128330	147128330	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:147128330C>A	ENST00000282928.4	+	1	1160	c.431C>A	c.(430-432)cCc>cAc	p.P144H		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	144					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTCCTCTTCCCCGGGCTTCAC	0.721													4	20	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155200582	155200582	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:155200582G>T	ENST00000460012.1	-	23	3500	c.3143C>A	c.(3142-3144)cCa>cAa	p.P1048Q	PLCH1_ENST00000334686.6_Missense_Mutation_p.P1048Q|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1048Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.P1086Q|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1086					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATGCTGCTTTGGGGAGAGAGA	0.512													7	221	---	---	---	---
LXN	56925	broad.mit.edu	37	3	158390192	158390192	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:158390192C>A	ENST00000264265.3	-	1	290	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron|GFM1_ENST00000486715.1_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	26						cytoplasm	metalloendopeptidase inhibitor activity|protein binding			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGCGGGGTCCCCTGCTGGTAG	0.592											OREG0015899	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	129	---	---	---	---
SERPINI2	5276	broad.mit.edu	37	3	167189620	167189620	+	Translation_Start_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:167189620C>A	ENST00000476257.1	-	3	301	c.3G>T	c.(1-3)atG>atT	p.M1I	SERPINI2_ENST00000461846.1_Start_Codon_SNP_p.M1I|SERPINI2_ENST00000471111.1_Start_Codon_SNP_p.M1I|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000264677.4_Start_Codon_SNP_p.M1I			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	1					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AGATTGTGTCCATTTTGACTT	0.343													6	222	---	---	---	---
NCEH1	57552	broad.mit.edu	37	3	172428830	172428830	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:172428830C>A	ENST00000538775.1	-	1	178	c.41G>T	c.(40-42)cGg>cTg	p.R14L	NCEH1_ENST00000543711.1_5'UTR|NCEH1_ENST00000475381.1_5'UTR|NCEH1_ENST00000273512.3_Missense_Mutation_p.R14L	NM_001146276.1	NP_001139748.1	Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	0					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CGATACCACCCGGAGACCTCC	0.642											OREG0015927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	71	---	---	---	---
DCUN1D1	54165	broad.mit.edu	37	3	182679102	182679102	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:182679102C>A	ENST00000292782.4	-	4	585	c.432G>T	c.(430-432)atG>atT	p.M144I	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.M129I	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	144	DCUN1.					ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATTCTTGTTCCATCTTGGGTA	0.303													10	634	---	---	---	---
DVL3	1857	broad.mit.edu	37	3	183887886	183887886	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:183887886C>A	ENST00000313143.3	+	14	1839	c.1591C>A	c.(1591-1593)Cct>Act	p.P531T	DVL3_ENST00000431765.1_Missense_Mutation_p.P514T|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	531					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGGGGCCGCCCCTTGGCCCAT	0.682													5	63	---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184910074	184910074	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:184910074C>A	ENST00000231887.3	-	7	2187	c.2112G>T	c.(2110-2112)caG>caT	p.Q704H	EHHADH_ENST00000456310.1_Missense_Mutation_p.Q608H	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	704						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	p.Q704H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GAGGGTTTCCCTGAGAAGCCA	0.463													6	101	---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184922358	184922358	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:184922358C>A	ENST00000231887.3	-	6	831	c.756G>T	c.(754-756)gaG>gaT	p.E252D	EHHADH_ENST00000456310.1_Missense_Mutation_p.E156D	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	252	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	ACAGCTCCTCCTCCTTCTTGA	0.527													7	244	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5687153	5687153	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:5687153C>A	ENST00000310917.2	-	6	1251	c.520G>T	c.(520-522)Ggg>Tgg	p.G174W	EVC2_ENST00000344938.1_Missense_Mutation_p.G254W|EVC2_ENST00000344408.5_Missense_Mutation_p.G254W	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	254						integral to membrane		p.G254W(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCCCGTTCCCGAGGTCTCCA	0.572													4	111	---	---	---	---
DCAF16	54876	broad.mit.edu	37	4	17805633	17805633	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:17805633G>T	ENST00000382247.1	-	3	1192	c.132C>A	c.(130-132)ccC>ccA	p.P44P	DCAF16_ENST00000536863.1_Silent_p.P44P	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	44						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GCGATAAGTTGGGCACCATAG	0.408													5	104	---	---	---	---
CCKAR	886	broad.mit.edu	37	4	26491107	26491107	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:26491107C>A	ENST00000295589.3	-	2	307		c.e2-1			NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor						activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GGCTGCCACTCTGCAGAGAGA	0.547													5	75	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55974046	55974046	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:55974046C>A	ENST00000263923.4	-	10	1565	c.1270G>T	c.(1270-1272)Ggt>Tgt	p.G424C		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	424	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GATTTCTCACCAATCTGGGGT	0.453			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			5	88	---	---	---	---
REST	5978	broad.mit.edu	37	4	57797468	57797468	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:57797468C>A	ENST00000309042.7	+	4	2758	c.2444C>A	c.(2443-2445)cCt>cAt	p.P815H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	815	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAAAAGCCTCCTCTCCGAAAA	0.507													7	199	---	---	---	---
PROL1	58503	broad.mit.edu	37	4	71275452	71275452	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:71275452C>A	ENST00000399575.2	+	3	581	c.407C>A	c.(406-408)cCt>cAt	p.P136H	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	136	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ATTTACCTTCCTATCTCTAAC	0.438													7	110	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73169752	73169752	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:73169752C>A	ENST00000286657.4	-	17	2342	c.2306G>T	c.(2305-2307)gGg>gTg	p.G769V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	769	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGCTTCCTCCCCTTTGCCATT	0.388													8	235	---	---	---	---
AGPAT9	84803	broad.mit.edu	37	4	84502812	84502812	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:84502812G>T	ENST00000395226.2	+	4	524	c.306G>T	c.(304-306)aaG>aaT	p.K102N	AGPAT9_ENST00000264409.4_Missense_Mutation_p.K102N	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	102					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TCTCCAAGAAGGGATTGGAAG	0.443													6	152	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85605227	85605227	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:85605227C>A	ENST00000322366.6	-	62	9951	c.9544G>T	c.(9544-9546)Ggg>Tgg	p.G3182W	WDFY3_ENST00000295888.4_Missense_Mutation_p.G3199W			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3199						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATAGGGTTCCCATTGATGCTC	0.502													5	83	---	---	---	---
AFF1	4299	broad.mit.edu	37	4	88055651	88055651	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:88055651C>A	ENST00000307808.6	+	19	3736	c.3316C>A	c.(3316-3318)Cca>Aca	p.P1106T	AFF1_ENST00000395146.4_Missense_Mutation_p.P1114T|AFF1_ENST00000544085.1_Missense_Mutation_p.P745T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1106						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCCTCTTTCCCCAATGCCTTC	0.567													9	424	---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103528375	103528375	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:103528375G>T	ENST00000226574.4	+	18	2490	c.2023G>T	c.(2023-2025)Ggg>Tgg	p.G675W	NFKB1_ENST00000505458.1_Missense_Mutation_p.G674W|NFKB1_ENST00000600343.1_Missense_Mutation_p.G494W|NFKB1_ENST00000394820.4_Missense_Mutation_p.G674W	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	674	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GGTGGCCGCTGGGGCTGACGT	0.572													6	111	---	---	---	---
C4orf21	55345	broad.mit.edu	37	4	113510868	113510868	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:113510868G>T	ENST00000309071.5	-	11	3264	c.3139C>A	c.(3139-3141)Cac>Aac	p.H1047N	C4orf21_ENST00000505019.1_Intron			Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	1047										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGAGCAATGTGGTAACGACTA	0.348													6	58	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126372476	126372476	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:126372476C>A	ENST00000394329.3	+	9	10318	c.10305C>A	c.(10303-10305)ccC>ccA	p.P3435P	FAT4_ENST00000335110.5_Silent_p.P1733P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3435	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTCCATCCCCAGCTGGAGCA	0.453													7	144	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140641195	140641195	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:140641195G>T	ENST00000509479.2	-	5	3555	c.2699C>A	c.(2698-2700)cCg>cAg	p.P900Q	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	896	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AGGTTGCCTCGGTCCCTGGGC	0.522													7	414	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151356741	151356741	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:151356741C>A	ENST00000535741.1	-	46	7514	c.7041G>T	c.(7039-7041)aaG>aaT	p.K2347N	LRBA_ENST00000357115.3_Splice_Site_p.K2358N|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Splice_Site_p.K2347N|LRBA_ENST00000510413.1_Splice_Site_p.K2347N			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2358	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATTTCTGTACCTTAATATCAG	0.358													7	139	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183522255	183522255	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:183522255C>A	ENST00000511685.1	+	4	813	c.690C>A	c.(688-690)ccC>ccA	p.P230P	TENM3_ENST00000406950.2_Silent_p.P230P					teneurin transmembrane protein 3																		AAACCACACCCGAGTCCGTCC	0.527													5	146	---	---	---	---
C5orf55	116349	broad.mit.edu	37	5	442821	442821	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:442821C>A	ENST00000408966.2	-	1	437	c.117G>T	c.(115-117)gcG>gcT	p.A39A		NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	39						extracellular region				large_intestine(1)|lung(2)	3						CAACCTTCTCCGCTTTGGTTT	0.602													7	246	---	---	---	---
IRX4	50805	broad.mit.edu	37	5	1879725	1879725	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:1879725G>T	ENST00000505790.1	-	5	1085	c.629C>A	c.(628-630)cCg>cAg	p.P210Q	IRX4_ENST00000231357.2_Missense_Mutation_p.P210Q|IRX4_ENST00000513692.1_Missense_Mutation_p.P210Q|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	210					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CTTGTTCCGCGGCGGCCACGT	0.662													4	55	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21751918	21751918	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:21751918C>A	ENST00000382254.1	-	15	3399	c.2313G>T	c.(2311-2313)tgG>tgT	p.W771C	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.W731C|CDH12_ENST00000504376.2_Missense_Mutation_p.W771C|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	771					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGCGGGGTCCCCAGTCTGTCA	0.502										HNSCC(59;0.17)			6	117	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	22078761	22078761	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:22078761G>T	ENST00000382254.1	-	5	1111	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	CDH12_ENST00000522262.1_Missense_Mutation_p.L9M|CDH12_ENST00000504376.2_Missense_Mutation_p.L9M	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	9					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L9M(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CAGAGAAGCAGGGATAAACAG	0.438										HNSCC(59;0.17)			7	176	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32087269	32087269	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:32087269C>A	ENST00000438447.1	+	20	4103	c.3715C>A	c.(3715-3717)Cca>Aca	p.P1239T	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1239T			O15018	PDZD2_HUMAN	PDZ domain containing 2	1239					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CATCTCTTCCCCAGGGAAGAA	0.552													6	122	---	---	---	---
RAI14	26064	broad.mit.edu	37	5	34823167	34823167	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:34823167C>A	ENST00000265109.3	+	15	1507	c.1220C>A	c.(1219-1221)cCa>cAa	p.P407Q	RAI14_ENST00000512629.1_Missense_Mutation_p.P378Q|RAI14_ENST00000397449.1_Missense_Mutation_p.P400Q|RAI14_ENST00000506376.1_Missense_Mutation_p.P399Q|RAI14_ENST00000428746.2_Missense_Mutation_p.P407Q|RAI14_ENST00000515799.1_Missense_Mutation_p.P410Q|RAI14_ENST00000503673.1_Missense_Mutation_p.P407Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	407						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ACCTCTCCCCCAGACTCCAAA	0.458													5	78	---	---	---	---
NSA2	10412	broad.mit.edu	37	5	74066519	74066519	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:74066519A>C	ENST00000296802.5	+	4	775	c.406A>C	c.(406-408)Att>Ctt	p.I136L	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	136	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						ATTAAAAGTTATTCGAACAGG	0.368													22	59	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80408628	80408628	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:80408628G>T	ENST00000265080.4	+	14	2105	c.2038G>T	c.(2038-2040)Ggg>Tgg	p.G680W		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	680	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGTGGTGCTGGGGAAACTCTC	0.488													7	132	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90024597	90024597	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:90024597C>A	ENST00000405460.2	+	49	10369	c.10273C>A	c.(10273-10275)Cag>Aag	p.Q3425K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3425					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCCATTTCCCAGGCTAATGC	0.498													5	116	---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109159447	109159447	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:109159447C>A	ENST00000261483.4	+	16	3527	c.2475C>A	c.(2473-2475)ccC>ccA	p.P825P		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	825					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CAACACCGCCCTTTGTCAGAG	0.328													6	91	---	---	---	---
DCP2	167227	broad.mit.edu	37	5	112337354	112337354	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:112337354C>A	ENST00000389063.2	+	7	987	c.789C>A	c.(787-789)ccC>ccA	p.P263P	DCP2_ENST00000543319.1_Silent_p.P52P|DCP2_ENST00000515408.1_Silent_p.P263P	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	263					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CGGCTAAACCCACTGTGGAAA	0.383													6	236	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648420	127648420	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:127648420G>T	ENST00000508053.1	-	43	5759	c.4785C>A	c.(4783-4785)acC>acA	p.T1595T	FBN2_ENST00000262464.4_Silent_p.T1595T			P35556	FBN2_HUMAN	fibrillin 2	1595	TB 6.				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	p.T1595T(2)		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)		CCCCGATCTCGGTGTTGCAAG	0.562													8	314	---	---	---	---
H2AFY	9555	broad.mit.edu	37	5	134705107	134705107	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:134705107G>T	ENST00000511689.1	-	4	1059	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	H2AFY_ENST00000312469.4_Silent_p.R156R|H2AFY_ENST00000510038.1_Silent_p.R156R|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000304332.4_Silent_p.R156R	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	156	Lys-rich.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGGATTTCCGGGCCCCTTTC	0.517													7	396	---	---	---	---
BRD8	10902	broad.mit.edu	37	5	137495792	137495792	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:137495792C>A	ENST00000254900.5	-	19	2869	c.2498G>T	c.(2497-2499)aGa>aTa	p.R833I	BRD8_ENST00000455658.2_Missense_Mutation_p.R792I|BRD8_ENST00000402931.1_Missense_Mutation_p.R833I|BRD8_ENST00000411594.2_Missense_Mutation_p.R836I|BRD8_ENST00000230901.5_Missense_Mutation_p.R906I	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	833					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAGAATCTCTCCCTCGAAG	0.498													7	164	---	---	---	---
DNAJC18	202052	broad.mit.edu	37	5	138755831	138755831	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:138755831C>A	ENST00000302060.5	-	7	943	c.863G>T	c.(862-864)aGa>aTa	p.R288I		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	288					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAAGCTCCTCTGTAGGCCTT	0.413													6	103	---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140481720	140481720	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:140481720C>A	ENST00000231130.2	+	1	1487	c.1487C>A	c.(1486-1488)cCg>cAg	p.P496Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		496	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCAGGACCCGCACCTGCCC	0.647													6	174	---	---	---	---
PCDHGA12	26025	broad.mit.edu	37	5	140812030	140812030	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:140812030C>A	ENST00000252085.3	+	1	1846	c.1704C>A	c.(1702-1704)ccC>ccA	p.P568P	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCCTCCCCACGGACGGTT	0.677													8	215	---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146798139	146798139	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:146798139C>A	ENST00000343218.5	-	3	723	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	DPYSL3_ENST00000398514.3_Missense_Mutation_p.G62W|DPYSL3_ENST00000534907.1_Intron	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	62					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCATCTTCCCATTGGCTTCA	0.433													7	228	---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156514274	156514274	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:156514274C>A	ENST00000307851.4	-	7	1475	c.745G>T	c.(745-747)Gga>Tga	p.G249*	HAVCR2_ENST00000522593.1_Nonsense_Mutation_p.G221*	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	249						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTGCCAATCCTGAGGGAGGG	0.433													5	74	---	---	---	---
ITK	3702	broad.mit.edu	37	5	156638318	156638318	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:156638318C>A	ENST00000422843.3	+	3	416	c.264C>A	c.(262-264)ctC>ctA	p.L88L	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	88	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAACTACCTCCTATATGTGT	0.507			T	SYK	peripheral T-cell lymphoma								7	148	---	---	---	---
BTNL3	10917	broad.mit.edu	37	5	180432842	180432842	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:180432842C>A	ENST00000342868.6	+	8	1555	c.1371C>A	c.(1369-1371)ccC>ccA	p.P457P		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	457	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AGGGGACTCCCATATTCATAT	0.512													4	28	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7542219	7542219	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:7542219C>A	ENST00000379802.3	+	1	412	c.71C>A	c.(70-72)cCg>cAg	p.P24Q	DSP_ENST00000418664.2_Missense_Mutation_p.P24Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	24	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGTCTGGCCCGGACCTGCGC	0.682													3	12	---	---	---	---
RBM24	221662	broad.mit.edu	37	6	17292081	17292081	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:17292081C>A	ENST00000379052.5	+	4	678	c.442C>A	c.(442-444)Cct>Act	p.P148T	RBM24_ENST00000318204.5_Missense_Mutation_p.P103T|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_Missense_Mutation_p.P90T	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	148	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	p.P103T(2)|p.P148T(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CTCCACCACCCCTTACATTGA	0.592													7	194	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30675940	30675940	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:30675940C>A	ENST00000376406.3	-	8	3063	c.2416G>T	c.(2416-2418)Ggg>Tgg	p.G806W	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	806				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.G806W(1)		breast(2)|kidney(1)|ovary(1)	4						GTCTGCCTCCCTCTGCCTTGA	0.532								Other conserved DNA damage response genes					8	222	---	---	---	---
CCHCR1	54535	broad.mit.edu	37	6	31118575	31118575	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:31118575C>A	ENST00000396268.3	-	6	1216	c.1028G>T	c.(1027-1029)gGg>gTg	p.G343V	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000376266.5_Missense_Mutation_p.G254V|CCHCR1_ENST00000396263.2_Missense_Mutation_p.G254V|CCHCR1_ENST00000451521.2_Missense_Mutation_p.G307V	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	254					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CACTTGTTCCCCAACATATTT	0.537													10	345	---	---	---	---
LTA	4049	broad.mit.edu	37	6	31541429	31541429	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:31541429C>A	ENST00000454783.1	+	4	835	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	LTA_ENST00000418386.2_Missense_Mutation_p.L193I	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	193					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CCACCTAGTCCTCAGCCCTAG	0.522													8	207	---	---	---	---
HSPA1A	3303	broad.mit.edu	37	6	31785376	31785376	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:31785376G>T	ENST00000375651.5	+	1	2086	c.1843G>T	c.(1843-1845)Ggt>Tgt	p.G615C	HSPA1A_ENST00000608703.1_Missense_Mutation_p.G450C|HSPA1A_ENST00000458062.2_Missense_Mutation_p.G524C	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	615					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			endometrium(1)|ovary(1)|stomach(1)	3						CCAGGGTGCCGGTGGTCCCGG	0.622													5	114	---	---	---	---
NOTCH4	4855	broad.mit.edu	37	6	32164199	32164199	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:32164199C>A	ENST00000375023.3	-	29	5339		c.e29-1		NOTCH4_ENST00000443903.2_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4						cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCAGTTTTCCCTAGGGGACGA	0.657													6	110	---	---	---	---
RPS10-NUDT3	100529239	broad.mit.edu	37	6	34389548	34389548	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:34389548C>A	ENST00000605528.1	-	4	375	c.359G>T	c.(358-360)gGg>gTg	p.G120V	RPS10_ENST00000344700.3_Missense_Mutation_p.G120V|RPS10_ENST00000326199.8_Missense_Mutation_p.G120V|RPS10_ENST00000494077.1_5'UTR	NM_001202470.2	NP_001189399.1																					GTCAGCTTCCCCTCTTGTGAG	0.498													8	331	---	---	---	---
SCUBE3	222663	broad.mit.edu	37	6	35213840	35213840	+	Missense_Mutation	SNP	C	C	A	rs142335824		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:35213840C>A	ENST00000274938.7	+	20	2719	c.2719C>A	c.(2719-2721)Cgt>Agt	p.R907S	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R923S	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	907	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CAACAGCGCCCGTGGCTTCCA	0.542													6	169	---	---	---	---
STK38	11329	broad.mit.edu	37	6	36467677	36467677	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:36467677C>A	ENST00000229812.7	-	10	1210	c.925G>T	c.(925-927)Ggg>Tgg	p.G309W		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	309	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGATCACCCCAAGCGACCAC	0.478													6	126	---	---	---	---
KLHDC3	116138	broad.mit.edu	37	6	42986383	42986383	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:42986383G>T	ENST00000326974.4	+	7	941	c.746G>T	c.(745-747)gGg>gTg	p.G249V	KLHDC3_ENST00000332245.8_Missense_Mutation_p.G190V|KLHDC3_ENST00000244670.8_Missense_Mutation_p.G115V	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	249					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCTACAATGGGGAGCTGTAC	0.512													9	336	---	---	---	---
DST	667	broad.mit.edu	37	6	56483809	56483809	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:56483809G>T	ENST00000370765.6	-	23	5130	c.5023C>A	c.(5023-5025)Cag>Aag	p.Q1675K	DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1035					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTGGTATTCTGGATGATAATG	0.383													6	154	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69703722	69703722	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:69703722C>A	ENST00000370598.1	+	11	2618	c.1797C>A	c.(1795-1797)acC>acA	p.T599T		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	599					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)				CCCAGGTGACCAAGACACTGT	0.438													7	281	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90383966	90383966	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:90383966G>T	ENST00000369393.3	-	79	13219	c.13104C>A	c.(13102-13104)ccC>ccA	p.P4368P	MDN1_ENST00000428876.1_Silent_p.P4368P|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4368					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGCAACCAGAGGGCAGCTGAC	0.473													5	60	---	---	---	---
EPHA7	2045	broad.mit.edu	37	6	93982058	93982058	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:93982058G>T	ENST00000369303.4	-	6	1591	c.1407C>A	c.(1405-1407)ccC>ccA	p.P469P		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	469	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGACTCCATTGGGATGCTCTG	0.458													6	184	---	---	---	---
FAXC	84553	broad.mit.edu	37	6	99729207	99729207	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:99729207G>T	ENST00000389677.5	-	6	1345	c.1063C>A	c.(1063-1065)Cac>Aac	p.H355N	FAXC_ENST00000461803.1_5'UTR|FAXC_ENST00000538471.1_Missense_Mutation_p.H75N	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN	failed axon connections homolog (Drosophila)	355																	AGCGGGGTGTGGGTTTTGCTG	0.473													5	74	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117250126	117250126	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:117250126C>A	ENST00000332958.2	+	18	2619	c.2603C>A	c.(2602-2604)cCa>cAa	p.P868Q		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	868					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTCGAACTCCAGTCCTAGGT	0.393													5	82	---	---	---	---
SLC35F1	222553	broad.mit.edu	37	6	118588180	118588180	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:118588180C>A	ENST00000360388.4	+	4	701	c.500C>A	c.(499-501)cCa>cAa	p.P167Q		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	167					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTTGTGATCCCAGTCGTGATT	0.483													9	354	---	---	---	---
FAM184A	79632	broad.mit.edu	37	6	119345262	119345262	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:119345262C>A	ENST00000338891.7	-	2	1319	c.876G>T	c.(874-876)caG>caT	p.Q292H	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.Q292H|FAM184A_ENST00000368475.4_Missense_Mutation_p.Q172H|FAM184A_ENST00000522284.1_Missense_Mutation_p.Q172H|FAM184A_ENST00000352896.5_Missense_Mutation_p.Q172H	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	292										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTTCTTGTCCCTGAAATTCTT	0.383													6	150	---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123319157	123319157	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:123319157C>A	ENST00000275162.5	+	2	1570	c.235C>A	c.(235-237)Cgg>Agg	p.R79R	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2						lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CTTTGAGTACCGGCAGCAGAA	0.557													5	154	---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132182820	132182820	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:132182820C>A	ENST00000360971.2	+	9	1021	c.1001C>A	c.(1000-1002)cCa>cAa	p.P334Q		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	334	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GGAATTTTCCCAGACATCTAT	0.353													5	96	---	---	---	---
SGK1	6446	broad.mit.edu	37	6	134493334	134493334	+	Silent	SNP	C	C	A	rs139370799	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:134493334C>A	ENST00000367858.5	-	10	1665	c.1068G>T	c.(1066-1068)ccG>ccT	p.P356P	SGK1_ENST00000367857.5_Silent_p.P251P|SGK1_ENST00000413996.3_Silent_p.P275P|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Silent_p.P217P|SGK1_ENST00000528577.1_Silent_p.P289P|SGK1_ENST00000237305.7_Silent_p.P261P	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	261	AGC-kinase C-terminal.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CGCCTACCTCCGGCGTGCCAC	0.483													5	206	---	---	---	---
OLIG3	167826	broad.mit.edu	37	6	137815150	137815150	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:137815150C>A	ENST00000367734.2	-	1	381	c.158G>T	c.(157-159)gGg>gTg	p.G53V		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GAGGCTTTCCCCGGGCATCTT	0.617													7	139	---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158873275	158873275	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:158873275C>A	ENST00000367097.3	+	5	2191	c.834C>A	c.(832-834)ccC>ccA	p.P278P	TULP4_ENST00000367094.2_Silent_p.P278P	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	278					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ACTTGTCTCCCACGGTCATCC	0.552													5	63	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165832169	165832169	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:165832169C>A	ENST00000366882.1	-	12	1076	c.922G>T	c.(922-924)Gag>Tag	p.E308*	PDE10A_ENST00000354448.4_Nonsense_Mutation_p.E308*|PDE10A_ENST00000539869.2_Nonsense_Mutation_p.E318*			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	308	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TCCTTTTCCTCTCCAATATCA	0.418													5	70	---	---	---	---
C6orf120	387263	broad.mit.edu	37	6	170102663	170102663	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:170102663C>A	ENST00000332290.2	+	1	407	c.108C>A	c.(106-108)ccC>ccA	p.P36P	C6orf120_ENST00000439249.1_Silent_p.P55P	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	36						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		AGGAGGTCCCCGAGGAGTGGG	0.692													4	34	---	---	---	---
NUDT1	4521	broad.mit.edu	37	7	2289565	2289565	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:2289565G>T	ENST00000397049.1	+	4	397	c.295G>T	c.(295-297)Ggc>Tgc	p.G99C	NUDT1_ENST00000343985.4_Missense_Mutation_p.G99C|NUDT1_ENST00000397048.1_Missense_Mutation_p.G99C|NUDT1_ENST00000356714.1_Missense_Mutation_p.G76C|NUDT1_ENST00000397046.1_Missense_Mutation_p.G76C|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000339737.2_Missense_Mutation_p.G76C	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	117	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding			large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		TGAGTTCGTGGGCGAGCCTGA	0.657								Modulation of nucleotide pools					6	119	---	---	---	---
FOXK1	221937	broad.mit.edu	37	7	4780549	4780549	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:4780549C>A	ENST00000328914.4	+	2	641	c.641C>A	c.(640-642)cCg>cAg	p.P214Q	FOXK1_ENST00000446823.1_Missense_Mutation_p.P51Q	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	214					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	p.P40L(1)|p.P214L(1)|p.P40Q(1)|p.P214Q(1)		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)		CCAGCCTCCCCGCTGCGGCCA	0.647													5	198	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11675890	11675890	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:11675890G>T	ENST00000423059.4	-	2	1140	c.889C>A	c.(889-891)Cgc>Agc	p.R297S		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A							integral to membrane		p.R297C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATAAGCTCGCGGGCTTCTGGA	0.463										HNSCC(18;0.044)			6	212	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11676569	11676569	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:11676569C>A	ENST00000423059.4	-	2	461	c.210G>T	c.(208-210)atG>atT	p.M70I	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 1.					integral to membrane		p.M70I(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATTCATCTCCCATACATCGGC	0.463										HNSCC(18;0.044)			6	124	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21932083	21932083	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:21932083C>A	ENST00000328843.6	+	78	12600	c.12569C>A	c.(12568-12570)cCa>cAa	p.P4190Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.P4183Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4190					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTGCTGCCCCACCCTACCTA	0.473									Kartagener syndrome				8	287	---	---	---	---
HOXA10	3206	broad.mit.edu	37	7	27211549	27211549	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:27211549C>A	ENST00000283921.4	-	2	1201	c.1202G>T	c.(1201-1203)cGg>cTg	p.R401L	HOXA10_ENST00000396344.4_Missense_Mutation_p.R85L|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000521421.1_5'UTR|RP1-170O19.20_ENST00000465941.1_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	401					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						TGTGAGCTCCCGGATCCGGTT	0.512													4	101	---	---	---	---
GPR141	353345	broad.mit.edu	37	7	37780690	37780690	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:37780690G>T	ENST00000447769.1	+	4	984	c.695G>T	c.(694-696)gGg>gTg	p.G232V	GPR141_ENST00000334425.1_Missense_Mutation_p.G232V|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	232						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTTTTATAGGGGTCATCCTT	0.418													7	190	---	---	---	---
C7orf10	79783	broad.mit.edu	37	7	40789094	40789094	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:40789094C>A	ENST00000309930.5	+	14	1274	c.1250C>A	c.(1249-1251)cCa>cAa	p.P417Q	C7orf10_ENST00000401647.2_Missense_Mutation_p.P343Q|C7orf10_ENST00000335693.4_Missense_Mutation_p.P391Q	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	391							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ATTTCCGTCCCAGGTCTGAAA	0.388													8	153	---	---	---	---
DDX56	54606	broad.mit.edu	37	7	44612250	44612250	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:44612250G>T	ENST00000258772.5	-	4	583	c.477C>A	c.(475-477)tcC>tcA	p.S159S	DDX56_ENST00000431640.1_Silent_p.S159S|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	159	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						AAAGCTCCAGGGAGTCACGAA	0.512													7	173	---	---	---	---
ELN	2006	broad.mit.edu	37	7	73474269	73474269	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:73474269G>T	ENST00000252034.7	+	23	1867	c.1468G>T	c.(1468-1470)Ggt>Tgt	p.G490C	ELN_ENST00000320399.6_Missense_Mutation_p.G490C|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_Missense_Mutation_p.G490C|ELN_ENST00000380553.4_Missense_Mutation_p.G354C|ELN_ENST00000380562.4_Missense_Mutation_p.G496C|ELN_ENST00000357036.5_Missense_Mutation_p.G495C|ELN_ENST00000414324.1_Missense_Mutation_p.G466C|ELN_ENST00000380576.5_Missense_Mutation_p.G471C|ELN_ENST00000358929.4_Missense_Mutation_p.G525C|ELN_ENST00000429192.1_Missense_Mutation_p.G476C|ELN_ENST00000380584.4_Missense_Mutation_p.G457C|ELN_ENST00000458204.1_Missense_Mutation_p.G480C|ELN_ENST00000380575.4_Missense_Mutation_p.G461C|ELN_ENST00000320492.7_Missense_Mutation_p.G409C	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	519	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCCTGGTGTCGGTGTGGCTCC	0.602			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						8	283	---	---	---	---
GTF2I	2969	broad.mit.edu	37	7	74105415	74105415	+	Missense_Mutation	SNP	G	G	T	rs146598910	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:74105415G>T	ENST00000324896.4	+	3	599	c.210G>T	c.(208-210)aaG>aaT	p.K70N	GTF2I_ENST00000416070.1_Missense_Mutation_p.K70N|GTF2I_ENST00000353920.4_Missense_Mutation_p.K70N|GTF2I_ENST00000346152.4_Missense_Mutation_p.K70N|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.K70N	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	70					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						ATACCAGAAAGGATTTTCAAA	0.348													7	97	---	---	---	---
HIP1	3092	broad.mit.edu	37	7	75168701	75168701	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:75168701C>A	ENST00000336926.6	-	30	3029	c.3003G>T	c.(3001-3003)ctG>ctT	p.L1001L	HIP1_ENST00000434438.2_Silent_p.L950L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1001	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAAGCTCTCCCAGTTTTTGAC	0.488			T	PDGFRB	CMML								7	373	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98569472	98569472	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:98569472C>A	ENST00000359863.4	+	52	7931	c.7722C>A	c.(7720-7722)ccC>ccA	p.P2574P	TRRAP_ENST00000355540.3_Silent_p.P2556P|TRRAP_ENST00000446306.3_Silent_p.P2556P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2574					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.P2574P(1)|p.P2556P(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGCACGCCCAAAACCAAAG	0.463													9	287	---	---	---	---
TAF6	6878	broad.mit.edu	37	7	99706102	99706102	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:99706102C>A	ENST00000344095.4	-	13	1871	c.1346G>T	c.(1345-1347)cGg>cTg	p.R449L	AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000453269.2_Missense_Mutation_p.R449L|TAF6_ENST00000452041.1_Missense_Mutation_p.R449L|TAF6_ENST00000418432.2_Missense_Mutation_p.R373L|TAF6_ENST00000472509.1_Missense_Mutation_p.R506L|TAF6_ENST00000437822.2_Missense_Mutation_p.R486L	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	449					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATTCTGCCCGATAGGCGTC	0.612													5	143	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100281209	100281209	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:100281209C>A	ENST00000275732.5	-	17	3225	c.2016G>T	c.(2014-2016)caG>caT	p.Q672H		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	672										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GAATTGGACCCTGAGTCGAAG	0.607													7	192	---	---	---	---
CUX1	1523	broad.mit.edu	37	7	101559501	101559501	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:101559501C>A	ENST00000360264.3	+	2	190	c.170C>A	c.(169-171)cCa>cAa	p.P57Q	CUX1_ENST00000549414.2_Missense_Mutation_p.P46Q|CUX1_ENST00000556210.1_Missense_Mutation_p.P46Q|CUX1_ENST00000550008.2_Missense_Mutation_p.P46Q|CUX1_ENST00000547394.2_Missense_Mutation_p.P57Q|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.P46Q|CUX1_ENST00000437600.4_Missense_Mutation_p.P57Q|CUX1_ENST00000292538.4_Missense_Mutation_p.P57Q|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P46Q|CUX1_ENST00000425244.2_Missense_Mutation_p.P57Q	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	46					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGAACACTCCAGAGGTGAGG	0.537													5	77	---	---	---	---
CBLL1	79872	broad.mit.edu	37	7	107399369	107399369	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:107399369C>A	ENST00000440859.3	+	6	1689	c.1222C>A	c.(1222-1224)Cca>Aca	p.P408T	CBLL1_ENST00000222597.2_Missense_Mutation_p.P407T	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase		Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AGGACCTCCCCCACCTCAACA	0.517													7	185	---	---	---	---
MET	4233	broad.mit.edu	37	7	116339270	116339270	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:116339270C>A	ENST00000397752.3	+	2	332	c.132C>A	c.(130-132)ccC>ccA	p.P44P	MET_ENST00000436117.2_Silent_p.P44P|MET_ENST00000318493.6_Silent_p.P44P	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	44	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATCAGCTTCCCAACTTCACCG	0.448			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				6	102	---	---	---	---
ARF5	381	broad.mit.edu	37	7	127231036	127231036	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:127231036G>T	ENST00000000233.5	+	5	504	c.350G>T	c.(349-351)cGg>cTg	p.R117L	GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	117					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GACGAGCTGCGGGATGCAGTG	0.582													6	147	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128481390	128481390	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:128481390C>A	ENST00000325888.8	+	12	2241	c.1980C>A	c.(1978-1980)ccC>ccA	p.P660P	FLNC_ENST00000346177.6_Silent_p.P660P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	660					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACATCCTGCCCGCCCCACCTG	0.632													6	198	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140550013	140550013	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:140550013C>A	ENST00000288602.6	-	2	199		c.e2-1			NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B						activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TATTCCACACCTAAAAAATAT	0.313		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				6	167	---	---	---	---
OR2A5	393046	broad.mit.edu	37	7	143748279	143748279	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:143748279C>A	ENST00000408906.2	+	1	819	c.785C>A	c.(784-786)cCc>cAc	p.P262H		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TACATGGCCCCCAAGTCCCGC	0.572													6	135	---	---	---	---
GBX1	2636	broad.mit.edu	37	7	150846192	150846192	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:150846192C>A	ENST00000297537.4	-	2	575	c.576G>T	c.(574-576)ctG>ctT	p.L192L		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	192						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGATGCCTCCAGCTTCTCCT	0.582													7	386	---	---	---	---
VIPR2	7434	broad.mit.edu	37	7	158851252	158851252	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:158851252C>A	ENST00000262178.2	-	5	560	c.375G>T	c.(373-375)ctG>ctT	p.L125L	VIPR2_ENST00000377633.3_Silent_p.L109L|VIPR2_ENST00000402066.1_Silent_p.L266L	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	125					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		TGGCCTTCACCAGAATATAAA	0.443													5	138	---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1497602	1497602	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:1497602C>A	ENST00000421627.2	+	2	877	c.743C>A	c.(742-744)cCc>cAc	p.P248H		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	327					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CACTGCTACCCCGACGCGCTG	0.672													7	149	---	---	---	---
CHRNA2	1135	broad.mit.edu	37	8	27327369	27327369	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:27327369C>A	ENST00000407991.1	-	3	811	c.203G>T	c.(202-204)cGg>cTg	p.R68L	CHRNA2_ENST00000240132.2_Missense_Mutation_p.R68L|CHRNA2_ENST00000520933.2_Missense_Mutation_p.R68L	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	68						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R68Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GTTGTAGCCCCGGAAGAGGTG	0.632													5	107	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61765453	61765453	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:61765453C>A	ENST00000423902.2	+	31	6648	c.6169C>A	c.(6169-6171)Cgc>Agc	p.R2057S	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2057					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)			AACTCTGTACCGCATTGAGCT	0.562													5	180	---	---	---	---
MCMDC2	157777	broad.mit.edu	37	8	67809086	67809086	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:67809086C>A	ENST00000422365.2	+	12	1689	c.1518C>A	c.(1516-1518)ccC>ccA	p.P506P	MCMDC2_ENST00000313616.5_Silent_p.P506P|MCMDC2_ENST00000541540.1_Silent_p.P443P|MCMDC2_ENST00000396592.3_Silent_p.P506P	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	506					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						AGTCATCTCCCTGCCACCCAT	0.423													7	236	---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70744881	70744881	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:70744881C>A	ENST00000260126.4	-	2	734	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G10W|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G10W	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTCCCGCCCCGGGCTGCAGT	0.617											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	98	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77616633	77616633	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:77616633C>A	ENST00000521891.2	+	2	758	c.310C>A	c.(310-312)Cgc>Agc	p.R104S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R104S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R104S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R104S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	104						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R104S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCTAATGCCCGCCTTCCTGT	0.502										HNSCC(33;0.089)			5	229	---	---	---	---
ZNF704	619279	broad.mit.edu	37	8	81733633	81733633	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:81733633G>T	ENST00000327835.3	-	2	428	c.197C>A	c.(196-198)tCc>tAc	p.S66Y		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	66						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			ATCAATGTTGGAGGAAACAAC	0.448													9	270	---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95565623	95565623	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:95565623G>T	ENST00000297591.5	-	1	128	c.53C>A	c.(52-54)cCg>cAg	p.P18Q	KIAA1429_ENST00000437199.1_Missense_Mutation_p.P18Q|KIAA1429_ENST00000421249.2_Missense_Mutation_p.P18Q	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	18					mRNA processing|RNA splicing	nucleus		p.P18Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTCAGCGCTCGGGTGTTTAAA	0.537													6	189	---	---	---	---
PLEKHF2	79666	broad.mit.edu	37	8	96166912	96166912	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:96166912G>T	ENST00000315367.3	+	2	881	c.640G>T	c.(640-642)Ggg>Tgg	p.G214W	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.G214W	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	214						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					GCTTTCTGCTGGGGACATGGC	0.478													6	163	---	---	---	---
ODF1	4956	broad.mit.edu	37	8	103564170	103564170	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:103564170C>A	ENST00000285402.3	+	1	371	c.215C>A	c.(214-216)cCa>cAa	p.P72Q		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	72	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GATCTCTACCCATGTTGCCTG	0.483													7	194	---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122641020	122641020	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:122641020C>A	ENST00000303924.4	-	2	1098	c.561G>T	c.(559-561)tgG>tgT	p.W187C		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	187						integral to plasma membrane	hyaluronan synthase activity	p.W187*(1)|p.W187C(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTTTCCACCCCATTTTTGCA	0.463													9	279	---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122641109	122641109	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:122641109C>A	ENST00000303924.4	-	2	1009	c.472G>T	c.(472-474)Ggt>Tgt	p.G158C		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	158						integral to plasma membrane	hyaluronan synthase activity	p.G158S(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TCTGTCTCACCGGGACCCTTT	0.433													6	320	---	---	---	---
ANXA13	312	broad.mit.edu	37	8	124693518	124693518	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:124693518C>A	ENST00000262219.6	-	12	1103	c.1036G>T	c.(1036-1038)Ggg>Tgg	p.G346W	ANXA13_ENST00000419625.1_Missense_Mutation_p.G305W	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	305					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	p.G346W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			CGGAAGTCCCCGGAGGTATCT	0.498													8	379	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125094647	125094647	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:125094647C>A	ENST00000522917.1	+	33	4545	c.4339C>A	c.(4339-4341)Cgc>Agc	p.R1447S	FER1L6_ENST00000399018.1_Missense_Mutation_p.R1447S|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1447						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCTGGAGAACCGCTTCTACAG	0.488													5	237	---	---	---	---
RNF139	11236	broad.mit.edu	37	8	125498995	125498995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:125498995G>T	ENST00000303545.3	+	2	1477	c.1105G>T	c.(1105-1107)Gga>Tga	p.G369*		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	369					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTTATCCATGGAATGACAGA	0.413													7	389	---	---	---	---
TG	7038	broad.mit.edu	37	8	133909917	133909917	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:133909917C>A	ENST00000220616.4	+	12	3065	c.3025C>A	c.(3025-3027)Cgc>Agc	p.R1009S	TG_ENST00000377869.1_Missense_Mutation_p.R1009S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1009	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCAGAGACGCCGCTTTTCCCC	0.567													5	227	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144940861	144940861	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:144940861G>T	ENST00000525985.1	-	2	6632	c.6561C>A	c.(6559-6561)ctC>ctA	p.L2187L				P58107	EPIPL_HUMAN	epiplakin 1	2187						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCTGAGCTGAGGAGTTCAG	0.537													9	357	---	---	---	---
EXOSC4	54512	broad.mit.edu	37	8	145134858	145134858	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:145134858C>A	ENST00000316052.5	+	2	287	c.184C>A	c.(184-186)Cgg>Agg	p.R62R	EXOSC4_ENST00000525936.1_Silent_p.R62R	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	62					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	p.R62R(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGGGGCTCCCGGGCTCGAGC	0.612													6	216	---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33986767	33986767	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:33986767G>T	ENST00000379238.1	-	6	628	c.511C>A	c.(511-513)Cgg>Agg	p.R171R	UBAP2_ENST00000418786.2_Silent_p.R171R|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000360802.1_Silent_p.R171R|UBAP2_ENST00000449054.1_Silent_p.R171R|UBAP2_ENST00000379239.4_5'UTR			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	171								p.R171R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CCTCTACCCCGGGCTCGCTTG	0.463													7	449	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35043625	35043625	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:35043625C>A	ENST00000312292.5	+	2	1046	c.999C>A	c.(997-999)ccC>ccA	p.P333P	C9orf131_ENST00000354479.5_Silent_p.P260P|C9orf131_ENST00000421362.2_Silent_p.P285P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	333										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)			AAAAGATGCCCCAAGCTTTTG	0.542													10	362	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35045210	35045210	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:35045210C>A	ENST00000312292.5	+	2	2631	c.2584C>A	c.(2584-2586)Cac>Aac	p.H862N	C9orf131_ENST00000354479.5_Missense_Mutation_p.H789N|C9orf131_ENST00000421362.2_Missense_Mutation_p.H814N	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	862										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)			CCAGTCCTCCCACTGTCATCA	0.547													8	388	---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37746737	37746737	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:37746737C>A	ENST00000539465.1	+	16	5301	c.4708C>A	c.(4708-4710)Cag>Aag	p.Q1570K	FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q1570K|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1570						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGTTTGACCCAGAAGTTCCG	0.622													6	147	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73235187	73235187	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:73235187G>T	ENST00000377110.3	-	15	2141	c.1898C>A	c.(1897-1899)cCc>cAc	p.P633H	TRPM3_ENST00000396285.1_Missense_Mutation_p.P480H|TRPM3_ENST00000396292.4_Missense_Mutation_p.P505H|TRPM3_ENST00000408909.2_Missense_Mutation_p.P492H|TRPM3_ENST00000396280.5_Missense_Mutation_p.P482H|TRPM3_ENST00000377106.1_Missense_Mutation_p.P505H|TRPM3_ENST00000360823.2_Missense_Mutation_p.P495H|TRPM3_ENST00000358082.3_Missense_Mutation_p.P495H|TRPM3_ENST00000377111.2_Missense_Mutation_p.P633H|TRPM3_ENST00000423814.3_Missense_Mutation_p.P660H|TRPM3_ENST00000377105.1_Missense_Mutation_p.P492H|TRPM3_ENST00000357533.2_Missense_Mutation_p.P637H			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAAAGGGAAGGGGAAGTGGTT	0.522													7	197	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79252395	79252395	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:79252395G>T	ENST00000428286.1	-	14	9028	c.7828C>A	c.(7828-7830)Cca>Aca	p.P2610T	PRUNE2_ENST00000443509.2_Missense_Mutation_p.P217T|PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2968T|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000223609.6_Missense_Mutation_p.P233T			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2968					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCCTTCTTGGGGTTGCACCA	0.398													8	214	---	---	---	---
CTSL	1514	broad.mit.edu	37	9	90343536	90343536	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:90343536G>T	ENST00000343150.5	+	5	1323	c.433G>T	c.(433-435)Ggt>Tgt	p.G145C	CTSL_ENST00000342020.5_Missense_Mutation_p.G145C|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Missense_Mutation_p.G145C					cathepsin L																		TAGTGCTACTGGTGCTCTTGA	0.443													6	189	---	---	---	---
SPTLC1	10558	broad.mit.edu	37	9	94797094	94797094	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:94797094G>T	ENST00000262554.2	-	14	1331	c.1326C>A	c.(1324-1326)ccC>ccA	p.P442P		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	442						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAACTGACCTGGGAGGAGGGA	0.388													6	153	---	---	---	---
FANCC	2176	broad.mit.edu	37	9	97873771	97873771	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:97873771C>A	ENST00000289081.3	-	13	1557	c.1303G>T	c.(1303-1305)Ggg>Tgg	p.G435W	FANCC_ENST00000375305.1_Missense_Mutation_p.G435W	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	435					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				TGCTGCCTCCCATCACGGGGG	0.632			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	130	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101748233	101748233	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:101748233C>A	ENST00000375001.3	+	3	910	c.487C>A	c.(487-489)Cgc>Agc	p.R163S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	163	TSP N-terminal.		R -> H (in dbSNP:rs2075662).		angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAGGTGGAACCGCTTCGCCAT	0.612													5	133	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101785643	101785643	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:101785643G>T	ENST00000375001.3	+	14	2189	c.1766G>T	c.(1765-1767)gGa>gTa	p.G589V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	589	Nonhelical region 2 (NC2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCCAGGCAGGAGCAGAAGCA	0.547													25	43	---	---	---	---
TMEM245	23731	broad.mit.edu	37	9	111849550	111849550	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:111849550C>A	ENST00000374586.3	-	6	1254	c.1223G>T	c.(1222-1224)tGg>tTg	p.W408L		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	408						integral to membrane											TATAATGCCCCACCACACATG	0.423													6	103	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113217947	113217947	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:113217947G>T	ENST00000401783.2	-	22	4046	c.3710C>A	c.(3709-3711)cCa>cAa	p.P1237Q	SVEP1_ENST00000302728.8_Missense_Mutation_p.P1237Q|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1214Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1237	EGF-like 2; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCAAGGCAGTGGGCTGCACTC	0.443													5	35	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117852972	117852972	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:117852972C>A	ENST00000350763.4	-	2	737	c.326G>T	c.(325-327)cGg>cTg	p.R109L	TNC_ENST00000340094.3_Missense_Mutation_p.R109L|TNC_ENST00000345230.3_Missense_Mutation_p.R109L|TNC_ENST00000535648.1_Missense_Mutation_p.R109L|TNC_ENST00000537320.1_Missense_Mutation_p.R109L|TNC_ENST00000423613.2_Missense_Mutation_p.R109L|TNC_ENST00000346706.3_Missense_Mutation_p.R109L|TNC_ENST00000341037.4_Missense_Mutation_p.R109L|TNC_ENST00000542877.1_Missense_Mutation_p.R109L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	109					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCCACAGGCCCGGCGGGGGAT	0.587													7	429	---	---	---	---
HSPA5	3309	broad.mit.edu	37	9	127999063	127999063	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:127999063C>A	ENST00000324460.6	-	8	1976	c.1773G>T	c.(1771-1773)aaG>aaT	p.K591N		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	591					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CCATGGTCTCCTTATCTTCAG	0.393										Prostate(1;0.17)			6	131	---	---	---	---
LMX1B	4010	broad.mit.edu	37	9	129455528	129455528	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:129455528C>A	ENST00000355497.5	+	4	674	c.667C>A	c.(667-669)Cgg>Agg	p.R223R	LMX1B_ENST00000425646.2_Silent_p.R200R|LMX1B_ENST00000561065.1_Silent_p.R200R|LMX1B_ENST00000373474.4_Silent_p.R223R|LMX1B_ENST00000526117.1_Silent_p.R223R	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	200					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R223G(1)|p.R200G(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CAAGCGACCCCGGACCATCCT	0.682									Nail-Patella Syndrome				3	9	---	---	---	---
POMT1	10585	broad.mit.edu	37	9	134390831	134390831	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:134390831C>A	ENST00000423007.1	+	13	1636	c.1194C>A	c.(1192-1194)ccC>ccA	p.P398P	POMT1_ENST00000354713.4_Silent_p.P368P|POMT1_ENST00000341012.7_Silent_p.P344P|POMT1_ENST00000419118.2_Silent_p.P246P|POMT1_ENST00000402686.3_Silent_p.P398P|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000372228.3_Silent_p.P420P|POMT1_ENST00000541219.1_Silent_p.P176P|POMT1_ENST00000404875.2_Silent_p.P281P	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	420	MIR 2.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTGCAGCCCCCCTGAGCCCCC	0.502													6	109	---	---	---	---
LCN12	286256	broad.mit.edu	37	9	139847376	139847376	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:139847376G>T	ENST00000371633.3	+	2	147	c.147G>T	c.(145-147)gcG>gcT	p.A49A		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	49					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGGCCTGGCGGGCAACAGCT	0.647													6	211	---	---	---	---
AKR1C1	1645	broad.mit.edu	37	10	5014886	5014886	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:5014886G>T	ENST00000380872.4	+	7	983	c.791G>T	c.(790-792)gGg>gTg	p.G264V	AKR1C1_ENST00000434459.2_Missense_Mutation_p.G264V|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1									p.G264V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						CTACAGCGTGGGGTTGTGGTC	0.602													6	95	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17151726	17151726	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:17151726C>A	ENST00000377833.4	-	10	1089	c.1024G>T	c.(1024-1026)Ggt>Tgt	p.G342C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	342	EGF-like 4; calcium-binding (Potential).				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)	CTTCCGTCACCCTGGTACCCT	0.478													5	91	---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18276493	18276493	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:18276493G>T	ENST00000377369.2	+	7	1455	c.1182G>T	c.(1180-1182)gaG>gaT	p.E394D	SLC39A12_ENST00000377371.3_Missense_Mutation_p.E394D|SLC39A12_ENST00000377374.4_Missense_Mutation_p.E394D|SLC39A12_ENST00000539911.1_Missense_Mutation_p.E260D	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	394					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						ATAGCTGTGAGGAGAACTACA	0.547													8	122	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25887349	25887349	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:25887349C>A	ENST00000376351.3	+	11	3153	c.2794C>A	c.(2794-2796)Cag>Aag	p.Q932K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	932						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CACTAAATCCCAGAAACCTTT	0.443													7	214	---	---	---	---
ACBD5	91452	broad.mit.edu	37	10	27499963	27499963	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:27499963C>A	ENST00000396271.3	-	9	1110	c.984G>T	c.(982-984)ttG>ttT	p.L328F	ACBD5_ENST00000375905.4_Missense_Mutation_p.L293F|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Missense_Mutation_p.L337F|ACBD5_ENST00000375901.1_Missense_Mutation_p.L219F|ACBD5_ENST00000375897.3_Missense_Mutation_p.L151F	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	337					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	p.L328F(1)|p.L293F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AATGACCACCCAAGTAATACT	0.388													5	100	---	---	---	---
DNA2	1763	broad.mit.edu	37	10	70191661	70191661	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:70191661C>A	ENST00000399180.2	-	13	2198	c.2199G>T	c.(2197-2199)gtG>gtT	p.V733V	DNA2_ENST00000358410.3_Silent_p.V647V|DNA2_ENST00000399179.2_Silent_p.V647V			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	647					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CAGGCATACCCACGATGAGTG	0.363													8	279	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81051939	81051939	+	Silent	SNP	C	C	A	rs78587165		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:81051939C>A	ENST00000334512.5	+	11	1355	c.783C>A	c.(781-783)ccC>ccA	p.P261P	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	261					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTAACGCCCCCGCAGGCATGG	0.662													5	186	---	---	---	---
AGAP11	119385	broad.mit.edu	37	10	88769144	88769144	+	RNA	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:88769144C>A	ENST00000444431.1	+	0	3744				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CCGCCTTTCCCGTGTGCGATC	0.527													6	342	---	---	---	---
HTR7	3363	broad.mit.edu	37	10	92508800	92508800	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:92508800C>A	ENST00000371721.3	-	2	1333	c.1091G>T	c.(1090-1092)tGg>tTg	p.W364L	HTR7_ENST00000277874.6_Missense_Mutation_p.W364L|HTR7_ENST00000336152.3_Missense_Mutation_p.W364L|HTR7_ENST00000371719.2_Missense_Mutation_p.W364L			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	364					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CCTCTCCACCCACAGTGGGAT	0.532													6	110	---	---	---	---
BTAF1	9044	broad.mit.edu	37	10	93741458	93741458	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:93741458C>A	ENST00000265990.6	+	16	2122	c.1814C>A	c.(1813-1815)cCa>cAa	p.P605Q	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	605					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCTGCTTGCCCATGGATGGGT	0.423													6	175	---	---	---	---
SLC35G1	159371	broad.mit.edu	37	10	95658490	95658490	+	Missense_Mutation	SNP	C	C	A	rs78174634		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:95658490C>A	ENST00000371408.3	+	2	399	c.338C>A	c.(337-339)cCt>cAt	p.P113H	SLC35G1_ENST00000427197.1_Missense_Mutation_p.P114H			Q2M3R5	TMM20_HUMAN	solute carrier family 35, member G1	114	DUF6 1.					integral to membrane											GTTGTTATCCCTTGCTTAATA	0.338													5	69	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	95987160	95987160	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:95987160G>T	ENST00000371380.3	+	4	2142	c.1907G>T	c.(1906-1908)tGg>tTg	p.W636L	PLCE1_ENST00000371385.3_Missense_Mutation_p.W328L|PLCE1_ENST00000260766.3_Missense_Mutation_p.W636L|PLCE1_ENST00000371375.1_Missense_Mutation_p.W328L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1		Ras-GEF.				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)				AAATGCTGCTGGAACATGGGC	0.517													6	178	---	---	---	---
PYROXD2	84795	broad.mit.edu	37	10	100154987	100154987	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:100154987C>A	ENST00000370575.4	-	8	799	c.751G>T	c.(751-753)Gga>Tga	p.G251*	PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	251							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GTCATGGCTCCAATCACTGCA	0.572													6	184	---	---	---	---
DCLRE1A	9937	broad.mit.edu	37	10	115609163	115609163	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:115609163G>T	ENST00000361384.2	-	2	2618	c.1701C>A	c.(1699-1701)ccC>ccA	p.P567P	DCLRE1A_ENST00000369305.1_Silent_p.P567P	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	567	Nuclear focus formation.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CCTTTCTTTTGGGAGGTAGTC	0.383								Other identified genes with known or suspected DNA repair function					6	150	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124330412	124330412	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:124330412C>A	ENST00000338354.3	+	4	252	c.146C>A	c.(145-147)cCa>cAa	p.P49Q	DMBT1_ENST00000359586.6_Missense_Mutation_p.P49Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.P49Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.P49Q			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	49					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAGGTTCTCCATTTCCCTCG	0.552													7	195	---	---	---	---
FAM175B	23172	broad.mit.edu	37	10	126490444	126490444	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:126490444C>A	ENST00000298492.5	+	1	91	c.46C>A	c.(46-48)Cac>Aac	p.H16N		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	16	MPN-like.					BRISC complex	polyubiquitin binding			NS(1)	1						TGTGTGTTTCCACAGCGCCAA	0.677													6	150	---	---	---	---
PTPRE	5791	broad.mit.edu	37	10	129867974	129867974	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:129867974G>T	ENST00000254667.3	+	13	1305	c.1026G>T	c.(1024-1026)acG>acT	p.T342T	PTPRE_ENST00000306042.5_Silent_p.T284T|PTPRE_ENST00000419012.2_Silent_p.T342T	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	342	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TGGGCCGGACGGGCACCTTCA	0.577											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	217	---	---	---	---
C10orf91	170393	broad.mit.edu	37	10	134261403	134261403	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:134261403C>A	ENST00000392630.3	+	3	337	c.276C>A	c.(274-276)tcC>tcA	p.S92S	C10orf91_ENST00000490765.1_3'UTR|C10orf91_ENST00000321248.2_Silent_p.S92S	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	92										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		CCCCTGCCTCCGGGCGCCCGC	0.667													6	220	---	---	---	---
LRRC56	115399	broad.mit.edu	37	11	550100	550100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:550100C>A	ENST00000270115.7	+	8	952	c.452C>A	c.(451-453)tCg>tAg	p.S151*		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	151										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AACAACATCTCGGACCTGAGC	0.667													5	87	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1255481	1255481	+	Silent	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:1255481G>A	ENST00000447027.1	+	20	2491	c.2433G>A	c.(2431-2433)gcG>gcA	p.A811A	MUC5B_ENST00000529681.1_Silent_p.A808A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	808	TIL 3.			P -> L (in Ref. 2; AAC67545).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAGCTCGGCGGGCACCCCTG	0.692													6	16	---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9868556	9868556	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:9868556G>T	ENST00000256190.8	-	23	3018	c.2881C>A	c.(2881-2883)Cag>Aag	p.Q961K	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	961					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGCTGTAGCTGGTTCTGCATT	0.413													7	179	---	---	---	---
F2	2147	broad.mit.edu	37	11	46750354	46750354	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:46750354C>A	ENST00000311907.5	+	11	1495	c.1439C>A	c.(1438-1440)cCt>cAt	p.P480H	F2_ENST00000530231.1_Intron	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	480	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TACATTCACCCTGTGTGTCTG	0.577													6	109	---	---	---	---
OR4D6	219983	broad.mit.edu	37	11	59225298	59225298	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:59225298C>A	ENST00000300127.2	+	1	888	c.865C>A	c.(865-867)Ctg>Atg	p.L289M		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CATCTATTCCCTGAGAAATCA	0.512													6	157	---	---	---	---
MRPL16	54948	broad.mit.edu	37	11	59573832	59573832	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:59573832G>T	ENST00000300151.4	-	4	957	c.744C>A	c.(742-744)ccC>ccA	p.P248P		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	248							rRNA binding			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						ACACACGTTTGGGCATGTAGA	0.473													7	233	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62295012	62295012	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:62295012C>A	ENST00000378024.4	-	5	7151	c.6877G>T	c.(6877-6879)Ggg>Tgg	p.G2293W	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2293					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)				TTCAGCTTCCCTTCTGGACCT	0.502													10	301	---	---	---	---
SLC22A8	9376	broad.mit.edu	37	11	62782166	62782166	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:62782166G>T	ENST00000336232.2	-	2	400	c.265C>A	c.(265-267)Cag>Aag	p.Q89K	SLC22A8_ENST00000311438.8_Missense_Mutation_p.Q89K|SLC22A8_ENST00000430500.2_Missense_Mutation_p.Q89K|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000545207.1_5'UTR	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	89					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						ATGGCCCTCTGGGTGTCATTG	0.597													7	195	---	---	---	---
NAA40	79829	broad.mit.edu	37	11	63721499	63721499	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:63721499C>A	ENST00000377793.4	+	7	651	c.550C>A	c.(550-552)Cag>Aag	p.Q184K	NAA40_ENST00000542163.1_Missense_Mutation_p.Q163K|NAA40_ENST00000456907.2_Missense_Mutation_p.Q144K|NAA40_ENST00000539656.1_Missense_Mutation_p.Q71K	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	184	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						TGGTGCCTACCAGTTCTTCAG	0.502													6	191	---	---	---	---
LTBP3	4054	broad.mit.edu	37	11	65325189	65325189	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:65325189C>A	ENST00000301873.5	-	1	510	c.242G>T	c.(241-243)cGg>cTg	p.R81L	LTBP3_ENST00000322147.4_Missense_Mutation_p.R81L|LTBP3_ENST00000536982.1_5'UTR	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	81	Gly-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						ACAACTGTCCCGACACTGGCC	0.692													4	70	---	---	---	---
ADRBK1	156	broad.mit.edu	37	11	67051215	67051215	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:67051215C>A	ENST00000308595.5	+	16	1656	c.1366C>A	c.(1366-1368)Ctg>Atg	p.L456M	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	456	AGC-kinase C-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TTTCCGCTCCCTGGACTGGCA	0.617													6	77	---	---	---	---
FGF3	2248	broad.mit.edu	37	11	69631132	69631132	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:69631132C>A	ENST00000334134.2	-	2	370	c.280G>T	c.(280-282)Ggg>Tgg	p.G94W		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	94					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGGTACCGCCCGGAGAAGAGA	0.612													6	119	---	---	---	---
MMP1	4312	broad.mit.edu	37	11	102662178	102662178	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:102662178G>T	ENST00000315274.6	-	8	1149	c.1082C>A	c.(1081-1083)cCc>cAc	p.P361H	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	361	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GATGTCCTTGGGGTATCCGTG	0.448													7	259	---	---	---	---
USP28	57646	broad.mit.edu	37	11	113679043	113679043	+	Missense_Mutation	SNP	C	C	A	rs143699311		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:113679043C>A	ENST00000003302.4	-	18	2349	c.2281G>T	c.(2281-2283)Ggt>Tgt	p.G761C	USP28_ENST00000545540.1_Missense_Mutation_p.G636C|USP28_ENST00000260188.5_Missense_Mutation_p.G761C|USP28_ENST00000544967.1_Missense_Mutation_p.G469C	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	761					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	p.G761S(1)		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)		GCTTCTACACCGCTCTTCTCA	0.522													5	240	---	---	---	---
FOXR1	283150	broad.mit.edu	37	11	118851309	118851309	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:118851309G>T	ENST00000317011.3	+	5	946	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	241					embryo development|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|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			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CATGCAGGGCGGGGCCAGCAC	0.612													5	131	---	---	---	---
TRIM29	23650	broad.mit.edu	37	11	120008334	120008334	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:120008334G>T	ENST00000341846.5	-	1	827	c.406C>A	c.(406-408)Cgg>Agg	p.R136R		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	136					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GTGGGCTTCCGGGACTCCGAG	0.657													6	196	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124747172	124747172	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:124747172C>A	ENST00000397801.1	+	19	3005	c.2813C>A	c.(2812-2814)cCg>cAg	p.P938Q	ROBO3_ENST00000525482.1_Intron|ROBO3_ENST00000538940.1_Missense_Mutation_p.P916Q	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	938					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GTGTCCTTCCCGCACTCAGAG	0.617													6	120	---	---	---	---
RPUSD4	84881	broad.mit.edu	37	11	126079521	126079521	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:126079521C>A	ENST00000298317.4	-	3	505	c.452G>T	c.(451-453)cGg>cTg	p.R151L	RPUSD4_ENST00000533628.1_Missense_Mutation_p.R151L|RPUSD4_ENST00000534393.1_5'UTR	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	151					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CTTGTCCAGCCGGTGGCACAG	0.532													7	313	---	---	---	---
B4GALNT3	283358	broad.mit.edu	37	12	667678	667678	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:667678C>A	ENST00000266383.5	+	18	2625	c.2612C>A	c.(2611-2613)cCg>cAg	p.P871Q		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	871						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCCAGGACCCGCACAGCATC	0.587													5	194	---	---	---	---
NRIP2	83714	broad.mit.edu	37	12	2943848	2943848	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:2943848G>T	ENST00000337508.4	-	1	342	c.302C>A	c.(301-303)cCg>cAg	p.P101Q		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	101					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCTGTCCAGCGGGAGCAGGTC	0.657													5	128	---	---	---	---
PHC1	1911	broad.mit.edu	37	12	9087015	9087015	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:9087015C>A	ENST00000433083.2	+	9	2204	c.2059C>A	c.(2059-2061)Cag>Aag	p.Q687K	PHC1_ENST00000544916.1_Missense_Mutation_p.Q732K|PHC1_ENST00000543824.1_Missense_Mutation_p.Q732K|PHC1_ENST00000536844.1_Missense_Mutation_p.Q338K			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	732					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CGTGAAGCCCCAGATTCTCAC	0.552													5	75	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9346733	9346733	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:9346733C>A	ENST00000261336.2	-	11	1222	c.1194G>T	c.(1192-1194)caG>caT	p.Q398H	PZP_ENST00000381997.2_Missense_Mutation_p.Q267H	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTGCAAGACCCTGCTCATTGG	0.413													6	135	---	---	---	---
LRMP	4033	broad.mit.edu	37	12	25243031	25243031	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:25243031G>T	ENST00000354454.3	+	13	1335	c.506G>T	c.(505-507)tGg>tTg	p.W169L	LRMP_ENST00000548766.1_Missense_Mutation_p.W169L|LRMP_ENST00000547044.1_Missense_Mutation_p.W169L	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	225					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AAGTGTGACTGGTTTACCTTG	0.398													7	99	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26816707	26816707	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:26816707C>A	ENST00000381340.3	-	15	2040	c.1624G>T	c.(1624-1626)Ggg>Tgg	p.G542W		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	542					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CTTTGATCCCCCAGATCTTCA	0.463													8	337	---	---	---	---
KLHL42	57542	broad.mit.edu	37	12	27950650	27950650	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:27950650C>A	ENST00000381271.2	+	3	1380	c.1069C>A	c.(1069-1071)Cgg>Agg	p.R357R		NM_020782.1	NP_065833.1			kelch-like family member 42																		TCTTTCAGACCGGAACATGAA	0.473													7	425	---	---	---	---
PTHLH	5744	broad.mit.edu	37	12	28116547	28116547	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:28116547G>T	ENST00000535992.1	-	3	604	c.258C>A	c.(256-258)ccC>ccA	p.P86P	PTHLH_ENST00000354417.3_Silent_p.P86P|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395872.1_Silent_p.P86P|PTHLH_ENST00000201015.4_Silent_p.P86P|PTHLH_ENST00000538310.1_Silent_p.P86P|PTHLH_ENST00000539239.1_Silent_p.P86P|PTHLH_ENST00000545234.1_Silent_p.P86P|PTHLH_ENST00000395868.3_Silent_p.P86P			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	86					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					TCTTTGTGTTGGGAGAGGGCT	0.512													7	207	---	---	---	---
ALG10B	144245	broad.mit.edu	37	12	38712251	38712251	+	Silent	SNP	C	C	A	rs147946662		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:38712251C>A	ENST00000308742.4	+	2	676	c.360C>A	c.(358-360)ccC>ccA	p.P120P	ALG10B_ENST00000551464.1_Silent_p.P120P	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	120					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGGTACAACCCAGAAACAAGG	0.333													5	127	---	---	---	---
PCED1B	91523	broad.mit.edu	37	12	47629815	47629815	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:47629815C>A	ENST00000546455.1	+	4	1700	c.969C>A	c.(967-969)ccC>ccA	p.P323P	PCED1B_ENST00000432328.1_Silent_p.P323P					PC-esterase domain containing 1B																		ctcctcctcccATTCTCCATC	0.602													7	160	---	---	---	---
DNAJC22	79962	broad.mit.edu	37	12	49742879	49742879	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:49742879C>A	ENST00000549441.2	+	3	1428	c.224C>A	c.(223-225)cCt>cAt	p.P75H	DNAJC22_ENST00000395069.3_Missense_Mutation_p.P75H			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	75					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						GTGACACCCCCTCTGAGTCCC	0.557													6	126	---	---	---	---
DAZAP2	9802	broad.mit.edu	37	12	51636194	51636194	+	Missense_Mutation	SNP	G	G	T	rs11555475	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:51636194G>T	ENST00000412716.3	+	4	1075	c.459G>T	c.(457-459)aaG>aaT	p.K153N	DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000551313.1_Missense_Mutation_p.K93N|DAZAP2_ENST00000549732.2_Missense_Mutation_p.K121N|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Missense_Mutation_p.K71N|DAZAP2_ENST00000449723.3_Missense_Mutation_p.K131N|DAZAP2_ENST00000549555.1_Missense_Mutation_p.G128W			Q15038	DAZP2_HUMAN	DAZ associated protein 2	153							WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CTCAGCGGAAGGGGAACTTCT	0.542													9	257	---	---	---	---
KRT83	3889	broad.mit.edu	37	12	52710743	52710743	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:52710743C>A	ENST00000293670.3	-	5	877	c.815G>T	c.(814-816)cGg>cTg	p.R272L		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	272	Linker 12.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GTTCAGGTCCCGGCTGTTGTC	0.562													5	149	---	---	---	---
IL23A	51561	broad.mit.edu	37	12	56733285	56733285	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:56733285C>A	ENST00000228534.4	+	2	404	c.238C>A	c.(238-240)Caa>Aaa	p.Q80K		NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	80					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity			kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CTGTGACCCCCAAGGACTCAG	0.507													4	35	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57857845	57857845	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:57857845C>A	ENST00000228682.2	+	3	255	c.164C>A	c.(163-165)cCa>cAa	p.P55Q	GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	55					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGTTATGGGCCAGCCAGAGAG	0.567													6	186	---	---	---	---
MBD6	114785	broad.mit.edu	37	12	57920645	57920645	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:57920645C>A	ENST00000355673.3	+	7	2073	c.1717C>A	c.(1717-1719)Cct>Act	p.P573T	MBD6_ENST00000431731.2_Missense_Mutation_p.P573T	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	573	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACAACCTCCCCCTGAGCCCCT	0.622													5	64	---	---	---	---
AVPR1A	552	broad.mit.edu	37	12	63543872	63543872	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:63543872C>A	ENST00000299178.2	-	1	850	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	249					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.G249W(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCGTCTTCCCGCGGACGTTG	0.612													5	143	---	---	---	---
XPOT	11260	broad.mit.edu	37	12	64819661	64819661	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:64819661C>A	ENST00000332707.5	+	15	2168	c.1639C>A	c.(1639-1641)Ctg>Atg	p.L547M		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	547	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GACGGCTTACCTGTTTTCTAG	0.348													10	244	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99145222	99145222	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:99145222C>A	ENST00000547776.2	-	25	3582	c.3583G>T	c.(3583-3585)Ggg>Tgg	p.G1195W	ANKS1B_ENST00000549558.2_Missense_Mutation_p.G361W|ANKS1B_ENST00000546568.1_Missense_Mutation_p.G361W|ANKS1B_ENST00000341752.7_Missense_Mutation_p.G201W|ANKS1B_ENST00000550693.2_Missense_Mutation_p.G385W|ANKS1B_ENST00000549493.2_Missense_Mutation_p.G445W|ANKS1B_ENST00000332712.7_Missense_Mutation_p.G385W|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G1195W|ANKS1B_ENST00000547446.1_Missense_Mutation_p.G330W|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G421W|ANKS1B_ENST00000549025.2_Missense_Mutation_p.G293W|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G711W|ANKS1B_ENST00000333732.7_Missense_Mutation_p.G225W	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1195	PID.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAGTGTCCCCCTTTTCTTGCT	0.473													6	122	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104107524	104107524	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:104107524G>T	ENST00000388887.2	+	42	4719	c.4515G>T	c.(4513-4515)acG>acT	p.T1505T		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1505	EGF-like 12.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGCTACACGGGTGATGGCA	0.527													7	240	---	---	---	---
RFX4	5992	broad.mit.edu	37	12	107144484	107144484	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:107144484C>A	ENST00000392842.1	+	17	2262	c.1848C>A	c.(1846-1848)ccC>ccA	p.P616P	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.P625P|RFX4_ENST00000229387.5_Silent_p.P522P	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	616					transcription, DNA-dependent	nucleus	DNA binding	p.P616P(1)|p.P625P(1)|p.P522P(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATCCTCACCCCATGCAGAGCC	0.507													7	209	---	---	---	---
C12orf23	90488	broad.mit.edu	37	12	107365136	107365136	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:107365136C>A	ENST00000280756.4	+	4	736	c.318C>A	c.(316-318)ccC>ccA	p.P106P	C12orf23_ENST00000547242.1_Silent_p.P106P|C12orf23_ENST00000550344.1_Silent_p.P106P|C12orf23_ENST00000551813.1_Silent_p.P106P|C12orf23_ENST00000548125.1_Silent_p.P106P|C12orf23_ENST00000547081.1_Silent_p.P106P	NM_152261.2	NP_689474.1	Q8WUH6	CL023_HUMAN	chromosome 12 open reading frame 23	106						integral to membrane				endometrium(1)|lung(2)	3						ACAAAGTGCCCTTAACAGGAA	0.463													5	76	---	---	---	---
CRY1	1407	broad.mit.edu	37	12	107391132	107391132	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:107391132C>A	ENST00000008527.5	-	10	2392	c.1525G>T	c.(1525-1527)Ggg>Tgg	p.G509W		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	509					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	p.G509W(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CCTCCATTCCCATTAGGATTA	0.343													7	221	---	---	---	---
CMKLR1	1240	broad.mit.edu	37	12	108685637	108685637	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:108685637C>A	ENST00000312143.7	-	3	1466	c.1103G>T	c.(1102-1104)aGg>aTg	p.R368M	CMKLR1_ENST00000412676.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R366M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R366M	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	368					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.R366M(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GCCGGTCTCCCTCTCATTCAT	0.478													6	114	---	---	---	---
ATXN2	6311	broad.mit.edu	37	12	111893853	111893853	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:111893853G>T	ENST00000377617.3	-	23	3885	c.3724C>A	c.(3724-3726)Cac>Aac	p.H1242N	ATXN2_ENST00000535949.1_Missense_Mutation_p.H935N|ATXN2_ENST00000608853.1_Missense_Mutation_p.H1082N|ATXN2_ENST00000389153.4_Missense_Mutation_p.H979N|ATXN2_ENST00000542287.2_Missense_Mutation_p.H977N|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1242					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGGCCATGTGGGGTGGGTTG	0.512													7	232	---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116435003	116435003	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:116435003G>T	ENST00000281928.3	-	15	2808	c.2602C>A	c.(2602-2604)Cca>Aca	p.P868T		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	868					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAAGATGGTGGAGTGGGAAAC	0.398													6	91	---	---	---	---
UNC119B	84747	broad.mit.edu	37	12	121154520	121154520	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:121154520C>A	ENST00000344651.4	+	3	488	c.448C>A	c.(448-450)Cgc>Agc	p.R150S		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	150										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCATTTCTCCGCCTCCGGAC	0.537													6	198	---	---	---	---
TCTN2	79867	broad.mit.edu	37	12	124171483	124171483	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:124171483G>T	ENST00000303372.5	+	6	793	c.665G>T	c.(664-666)gGg>gTg	p.G222V	TCTN2_ENST00000426174.2_Missense_Mutation_p.G221V	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	222					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGCTCTGCTGGGACGACGACA	0.527													9	277	---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28610092	28610092	+	Silent	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:28610092C>T	ENST00000380982.4	-	11	1479	c.1398G>A	c.(1396-1398)aaG>aaA	p.K466K	FLT3_ENST00000537084.1_Silent_p.K466K|FLT3_ENST00000241453.7_Silent_p.K466K			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	466					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCTGAACACTTCTTCCAGG	0.423			"""Mis, O"""		"""AML, ALL"""								8	296	---	---	---	---
PAN3	255967	broad.mit.edu	37	13	28840863	28840863	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:28840863G>T	ENST00000399613.1	+	9	886	c.823G>T	c.(823-825)Gag>Tag	p.E275*	PAN3_ENST00000282391.5_Nonsense_Mutation_p.E163*|PAN3_ENST00000380958.3_Nonsense_Mutation_p.E475*			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	475	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGTTCCTACAGAGGTTGACAG	0.358													8	224	---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36396952	36396952	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:36396952C>A	ENST00000255448.4	-	11	1679	c.1468G>T	c.(1468-1470)Ggg>Tgg	p.G490W	DCLK1_ENST00000360631.3_Missense_Mutation_p.G490W|DCLK1_ENST00000379893.1_Missense_Mutation_p.G183W	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	490	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TACAGCATCCCACTGGCGTCT	0.493													8	125	---	---	---	---
UTP14C	9724	broad.mit.edu	37	13	52603844	52603844	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:52603844G>T	ENST00000521776.2	+	2	1637	c.904G>T	c.(904-906)Ggg>Tgg	p.G302W		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	302					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CCAAAACAGTGGGAAATGGGC	0.443													6	120	---	---	---	---
SUGT1	10910	broad.mit.edu	37	13	53227224	53227224	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:53227224C>A	ENST00000310528.8	+	2	137	c.82C>A	c.(82-84)Cag>Aag	p.Q28K	SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.Q28K			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)						mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		CGAGGACCCCCAGGCGGCGTT	0.582											OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	180	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76415828	76415828	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:76415828G>T	ENST00000357063.3	+	25	5156	c.3896G>T	c.(3895-3897)tGg>tTg	p.W1299L	LMO7_ENST00000465261.2_Missense_Mutation_p.W1014L|LMO7_ENST00000377534.3_Missense_Mutation_p.W1299L|LMO7_ENST00000341547.4_Missense_Mutation_p.W965L|LMO7_ENST00000321797.8_Missense_Mutation_p.W1014L|LMO7_ENST00000526202.1_Missense_Mutation_p.W891L			Q8WWI1	LMO7_HUMAN	LIM domain 7	1299						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTTGCCACCTGGGAAGCTACC	0.507													6	151	---	---	---	---
OR11H4	390442	broad.mit.edu	37	14	20711366	20711366	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:20711366C>A	ENST00000315409.2	+	1	469	c.416C>A	c.(415-417)cCa>cAa	p.P139Q		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATCTGCCACCCACTGCAGTAC	0.463													6	113	---	---	---	---
TTC5	91875	broad.mit.edu	37	14	20764556	20764556	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:20764556C>A	ENST00000258821.3	-	6	745	c.689G>T	c.(688-690)aGg>aTg	p.R230M		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	230					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TACCGTCGCCCTGTTCAGATG	0.423													8	250	---	---	---	---
OSGEP	55644	broad.mit.edu	37	14	20922784	20922784	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:20922784C>A	ENST00000206542.4	-	1	480	c.59G>T	c.(58-60)cGg>cTg	p.R20L	OSGEP_ENST00000556252.1_5'UTR	NM_017807.3	NP_060277.1	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	20					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		CTTGCCATCCCGCACCACGCC	0.632													5	127	---	---	---	---
RNASE2	6036	broad.mit.edu	37	14	21424072	21424072	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:21424072C>A	ENST00000304625.2	+	2	232	c.142C>A	c.(142-144)Cag>Aag	p.Q48K		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	48					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TATGACCTCCCAGCAATGCAC	0.443													6	65	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23872637	23872637	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:23872637C>A	ENST00000405093.3	-	10	888	c.818G>T	c.(817-819)cGg>cTg	p.R273L	MYH6_ENST00000356287.3_Missense_Mutation_p.R273L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	273	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GAAGATCACCCGGGACTTCTC	0.572													5	172	---	---	---	---
PSME2	5721	broad.mit.edu	37	14	24614267	24614267	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:24614267C>A	ENST00000216802.5	-	6	999	c.360G>T	c.(358-360)ctG>ctT	p.L120L	PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Splice_Site_p.L109L	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	120					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		CCAGGCTTACCAGAATGCATT	0.502													7	239	---	---	---	---
TGM1	7051	broad.mit.edu	37	14	24731088	24731088	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:24731088C>A	ENST00000206765.6	-	3	444	c.321G>T	c.(319-321)gaG>gaT	p.E107D	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	107					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTAGCATGCCCTCTGCAAGGA	0.577													5	81	---	---	---	---
NFATC4	4776	broad.mit.edu	37	14	24838791	24838791	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:24838791C>A	ENST00000413692.2	+	3	520	c.376C>A	c.(376-378)Cga>Aga	p.R126R	NFATC4_ENST00000555453.1_Silent_p.R51R|NFATC4_ENST00000424781.2_Silent_p.R76R|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553469.1_Silent_p.R95R|NFATC4_ENST00000553879.1_5'UTR|NFATC4_ENST00000554591.1_Silent_p.R126R|NFATC4_ENST00000556279.1_Silent_p.R95R|NFATC4_ENST00000539237.2_Silent_p.R95R|NFATC4_ENST00000554344.1_5'UTR|NFATC4_ENST00000556169.1_Silent_p.R51R|NFATC4_ENST00000553708.1_Silent_p.R63R|NFATC4_ENST00000554966.1_Silent_p.R76R|NFATC4_ENST00000555590.1_Silent_p.R76R|NFATC4_ENST00000554661.1_5'UTR|NFATC4_ENST00000557451.1_5'UTR|NFATC4_ENST00000554050.1_Silent_p.R63R|NFATC4_ENST00000250373.4_Silent_p.R63R|NFATC4_ENST00000422617.3_Silent_p.R51R	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	63	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGGTATTCCCCGACCTCCACC	0.677													5	178	---	---	---	---
EAPP	55837	broad.mit.edu	37	14	34985607	34985607	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:34985607G>T	ENST00000250454.3	-	6	848	c.767C>A	c.(766-768)cCa>cAa	p.P256Q		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	256					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		GCACATGACTGGGTGATAGAT	0.453													7	226	---	---	---	---
KLHDC1	122773	broad.mit.edu	37	14	50199529	50199529	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:50199529C>A	ENST00000359332.2	+	9	908	c.818C>A	c.(817-819)cCa>cAa	p.P273Q	KLHDC1_ENST00000554512.1_3'UTR	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	273						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GATAATATCCCATTAAGTAAG	0.313													4	40	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75230236	75230236	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:75230236C>A	ENST00000325680.7	+	1	168	c.44C>A	c.(43-45)cCg>cAg	p.P15Q	YLPM1_ENST00000552421.1_Missense_Mutation_p.P15Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.P15Q	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	15	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGCCACTATCCGCCGCCACCG	0.701													3	21	---	---	---	---
POMT2	29954	broad.mit.edu	37	14	77751965	77751965	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:77751965C>A	ENST00000261534.4	-	13	1545	c.1343G>T	c.(1342-1344)gGg>gTg	p.G448V		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	448	MIR 2.				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	p.G448V(1)		breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		ATTTGAGTCCCCTGTTCCATT	0.438													11	659	---	---	---	---
GTF2A1	2957	broad.mit.edu	37	14	81658967	81658967	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:81658967C>A	ENST00000553612.1	-	7	1232	c.829G>T	c.(829-831)Ggg>Tgg	p.G277W	GTF2A1_ENST00000434192.2_Missense_Mutation_p.G238W	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	277					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		GATGTATCCCCAGTTCCATCA	0.483													8	130	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105419316	105419316	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:105419316C>A	ENST00000333244.5	-	7	2591	c.2472G>T	c.(2470-2472)aaG>aaT	p.K824N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	824						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGTCACCTCCTTGTCGGCCA	0.592													9	377	---	---	---	---
IGHG2	3501	broad.mit.edu	37	14	106109863	106109863	+	RNA	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:106109863C>A	ENST00000390545.2	-	0	658																											CGGGGCTGCCCTGTAGGGACA	0.652													8	339	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25438468	25438468	+	RNA	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:25438468G>T	ENST00000424208.1	+	0	1327				SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000363358.1_RNA	NR_003305.1																						GCCCTGAGTTGGGTCGATGAT	0.527													7	285	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28473497	28473497	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:28473497C>A	ENST00000261609.7	-	35	5439	c.5331G>T	c.(5329-5331)ctG>ctT	p.L1777L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1777					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGATGGTCCCCAGGCTCGGTC	0.567													5	56	---	---	---	---
MAPKBP1	23005	broad.mit.edu	37	15	42107849	42107849	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:42107849G>T	ENST00000457542.2	+	12	1631	c.1345G>T	c.(1345-1347)Ggg>Tgg	p.G449W	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G332W|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G455W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G449W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G288W	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	455										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTATGTGGATGGGAACACCCA	0.557													4	27	---	---	---	---
GANC	2595	broad.mit.edu	37	15	42641676	42641676	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:42641676C>A	ENST00000318010.8	+	22	2754	c.2514C>A	c.(2512-2514)tcC>tcA	p.S838S	CAPN3_ENST00000356316.3_5'UTR|RP11-164J13.1_ENST00000495723.1_RNA	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	838					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		CATTCTGTTCCAGTGTTCTGA	0.393													5	119	---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43328436	43328436	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:43328436C>A	ENST00000290650.4	-	19	2208	c.2130G>T	c.(2128-2130)ctG>ctT	p.L710L	UBR1_ENST00000382177.2_Silent_p.L710L	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	710					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TCTGAAGTACCAGTAACAAGA	0.338													7	300	---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43712632	43712632	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:43712632C>A	ENST00000263801.3	-	21	4789	c.4537G>T	c.(4537-4539)Ggg>Tgg	p.G1513W	TP53BP1_ENST00000382039.3_Missense_Mutation_p.G1468W|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1518W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1518W	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1513	Interaction with dimethylated histone H4.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTATACTTCCCAGCTCCGACA	0.483								Other conserved DNA damage response genes					7	341	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48717950	48717950	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:48717950C>A	ENST00000316623.5	-	59	7771	c.7316G>T	c.(7315-7317)gGg>gTg	p.G2439V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2439	EGF-like 41; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGGAAGTCCCAGTTATATC	0.363													6	74	---	---	---	---
OAZ2	4947	broad.mit.edu	37	15	64982648	64982648	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:64982648C>A	ENST00000326005.6	-	4	510	c.278G>T	c.(277-279)tGg>tTg	p.W93L	OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560258.2_Missense_Mutation_p.W93L|OAZ2_ENST00000560837.1_5'UTR			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	93					polyamine metabolic process|regulation of cellular amino acid metabolic process	cytosol|nucleus	ornithine decarboxylase inhibitor activity|protein binding									L-Ornithine(DB00129)	GACTGCATCCCAAGAAGAGAC	0.517													7	196	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65917307	65917307	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:65917307G>T	ENST00000261892.6	+	2	1176	c.889G>T	c.(889-891)Ggg>Tgg	p.G297W	SLC24A1_ENST00000339868.6_Missense_Mutation_p.G297W|SLC24A1_ENST00000537259.1_Missense_Mutation_p.G297W|SLC24A1_ENST00000399033.4_Missense_Mutation_p.G297W|SLC24A1_ENST00000546330.1_Missense_Mutation_p.G297W|SLC24A1_ENST00000544319.2_Missense_Mutation_p.G297W	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	297					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCATCCCTGGGGGTTAGTGGG	0.537													6	122	---	---	---	---
FEM1B	10116	broad.mit.edu	37	15	68582486	68582486	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:68582486C>A	ENST00000306917.4	+	2	1405	c.790C>A	c.(790-792)Cgt>Agt	p.R264S		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	264					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGCAAATGACCGTGAGAACTA	0.418													7	177	---	---	---	---
PARP6	56965	broad.mit.edu	37	15	72552964	72552964	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:72552964C>A	ENST00000569795.1	-	10	1298	c.611G>T	c.(610-612)cGg>cTg	p.R204L	PARP6_ENST00000287196.9_Missense_Mutation_p.R204L|PARP6_ENST00000260376.7_Missense_Mutation_p.R204L|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	204							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GCGCCCAACCCGAAGCTCTGG	0.532													8	557	---	---	---	---
BBS4	585	broad.mit.edu	37	15	73028174	73028174	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:73028174C>A	ENST00000268057.4	+	14	1156	c.1115C>A	c.(1114-1116)cCt>cAt	p.P372H	BBS4_ENST00000395205.2_Missense_Mutation_p.P380H|BBS4_ENST00000539603.1_Missense_Mutation_p.P360H|BBS4_ENST00000542334.1_Missense_Mutation_p.P200H	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	372	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						AGGTGTAACCCTTTAGTAAAC	0.463									Bardet-Biedl syndrome				7	232	---	---	---	---
ARNT2	9915	broad.mit.edu	37	15	80866543	80866543	+	Silent	SNP	A	A	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:80866543A>T	ENST00000533983.1	+	14	1677	c.1338A>T	c.(1336-1338)tcA>tcT	p.S446S	ARNT2_ENST00000527771.1_Silent_p.S446S|ARNT2_ENST00000303329.4_Silent_p.S457S			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	457					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATGGATTGTCATCGTATGACT	0.483													29	58	---	---	---	---
TMC3	342125	broad.mit.edu	37	15	81625417	81625417	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:81625417G>T	ENST00000558726.1	-	22	2784	c.2649C>A	c.(2647-2649)ccC>ccA	p.P883P	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Silent_p.P882P			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	882						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGGGGGCGTGGGGCCTGGGAC	0.468													6	121	---	---	---	---
C15orf40	123207	broad.mit.edu	37	15	83674445	83674445	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:83674445C>A	ENST00000304177.5	-	4	400		c.e4-1		RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000451195.3_Intron|C15orf40_ENST00000513601.2_Splice_Site|C15orf40_ENST00000538348.2_Intron|C15orf40_ENST00000565712.1_Splice_Site	NM_001160114.1|NM_144597.2	NP_001153586.1|NP_653198.2	Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40											large_intestine(3)|lung(2)|skin(1)	6						ATTTACCACCCTGGACCAAAA	0.393													8	462	---	---	---	---
ITFG3	83986	broad.mit.edu	37	16	304439	304439	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:304439C>A	ENST00000399932.3	+	3	478	c.27C>A	c.(25-27)gcC>gcA	p.A9A	ITFG3_ENST00000442458.2_Silent_p.A9A|ITFG3_ENST00000301679.2_Silent_p.A9A|ITFG3_ENST00000450082.2_Silent_p.A9A|ITFG3_ENST00000301678.3_Silent_p.A9A|ITFG3_ENST00000600536.1_Silent_p.A9A	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	9						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				ACTTAGAGGCCGAAATCCACC	0.493											OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	233	---	---	---	---
METRN	79006	broad.mit.edu	37	16	767145	767145	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:767145C>A	ENST00000568223.2	+	4	815	c.640C>A	c.(640-642)Cgt>Agt	p.R214S	METRN_ENST00000568415.1_Missense_Mutation_p.R81S	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	214										skin(1)	1		Hepatocellular(780;0.00335)				GGTGGCCGCCCGTGTCCTCCG	0.662													3	12	---	---	---	---
IFT140	9742	broad.mit.edu	37	16	1570280	1570280	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:1570280C>A	ENST00000426508.2	-	28	4088	c.3725G>T	c.(3724-3726)aGg>aTg	p.R1242M	IFT140_ENST00000361339.5_Missense_Mutation_p.R436M	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1242										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTCCTTCTGCCTGGACACGCT	0.567													6	153	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2813480	2813480	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:2813480C>A	ENST00000301740.8	+	11	3500	c.2951C>A	c.(2950-2952)cCg>cAg	p.P984Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	984	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCTGAAACACCGCCAAGACAA	0.488													5	201	---	---	---	---
SEPT12	124404	broad.mit.edu	37	16	4829717	4829717	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:4829717C>A	ENST00000268231.8	-	8	1060	c.797G>T	c.(796-798)cGg>cTg	p.R266L	SEPT12_ENST00000396693.5_Missense_Mutation_p.R220L	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	266					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	p.R266Q(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CTTGGTCTTCCGGCCCAGGAC	0.602													5	135	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18823153	18823153	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:18823153C>A	ENST00000446231.2	-	62	11250	c.10838G>T	c.(10837-10839)tGg>tTg	p.W3613L	SMG1_ENST00000389467.3_Missense_Mutation_p.W3614L|RP11-1035H13.2_ENST00000569096.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3613					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CACTCTCTTCCACACACTCAC	0.418													9	499	---	---	---	---
TMC7	79905	broad.mit.edu	37	16	19063038	19063038	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:19063038C>A	ENST00000421369.3	+	13	1999	c.1441C>A	c.(1441-1443)Ccc>Acc	p.P481T	TMC7_ENST00000304381.5_Missense_Mutation_p.P591T|TMC7_ENST00000569532.1_Missense_Mutation_p.P591T	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	591						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CAGACCCTCCCCCAGGCCGTT	0.413													7	142	---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27474868	27474868	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:27474868C>A	ENST00000356183.4	-	35	5933	c.5918G>T	c.(5917-5919)cGg>cTg	p.R1973L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1948L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1973						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCACCTTTCCCGTGCTGCCTG	0.582													6	189	---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28847439	28847439	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:28847439C>A	ENST00000336783.4	+	22	3248	c.3081C>A	c.(3079-3081)ccC>ccA	p.P1027P	ATXN2L_ENST00000570200.1_Silent_p.P1027P|ATXN2L_ENST00000382686.4_Silent_p.P1027P|ATXN2L_ENST00000340394.8_Silent_p.P1027P|ATXN2L_ENST00000325215.6_Silent_p.P1027P|ATXN2L_ENST00000564304.1_Silent_p.P1033P|ATXN2L_ENST00000395547.2_Silent_p.P1027P|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1027						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCGGACACCCCCAAGGTGAGC	0.632													6	117	---	---	---	---
SPN	6693	broad.mit.edu	37	16	29675312	29675312	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:29675312C>A	ENST00000360121.3	+	2	355	c.263C>A	c.(262-264)cCt>cAt	p.P88H	SPN_ENST00000395389.2_Missense_Mutation_p.P88H	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	88					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						ACTGGTTCCCCTTTACCTGAG	0.542													6	135	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30735154	30735154	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:30735154C>A	ENST00000262518.4	+	25	4794	c.4409C>A	c.(4408-4410)cCa>cAa	p.P1470Q	SRCAP_ENST00000344771.4_Missense_Mutation_p.P1312Q|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1408Q	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1470	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTTCGGGCCCAGCTCTGTTG	0.612													6	170	---	---	---	---
VKORC1	79001	broad.mit.edu	37	16	31105608	31105608	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:31105608C>A	ENST00000394971.3	-	1	262	c.215G>T	c.(214-216)cGg>cTg	p.R72L	VKORC1_ENST00000300851.6_Intron|VKORC1_ENST00000319788.7_Intron|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000394975.2_Intron|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000354895.4_Intron			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CCTGCCTCCCCGCCTTTCCTG	0.617													9	245	---	---	---	---
NETO2	81831	broad.mit.edu	37	16	47165907	47165907	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:47165907C>A	ENST00000562435.1	-	2	448	c.64G>T	c.(64-66)Ggg>Tgg	p.G22W	NETO2_ENST00000303155.5_Missense_Mutation_p.G22W	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	22						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				ACGGCAATCCCTTCCACTACC	0.338										HNSCC(25;0.065)			8	288	---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55525775	55525775	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:55525775C>A	ENST00000219070.4	+	8	1752	c.1243C>A	c.(1243-1245)Caa>Aaa	p.Q415K	MMP2_ENST00000437642.2_Missense_Mutation_p.Q365K|MMP2_ENST00000570308.1_Missense_Mutation_p.Q339K|MMP2_ENST00000543485.1_Missense_Mutation_p.Q339K	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	415	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GGAGCACTCCCAAGACCCTGG	0.582													5	90	---	---	---	---
CES1	1066	broad.mit.edu	37	16	55844530	55844530	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:55844530C>A	ENST00000422046.2	-	11	1492	c.1211G>T	c.(1210-1212)gGa>gTa	p.G404V	CES1_ENST00000361503.4_Missense_Mutation_p.G405V|CES1_ENST00000360526.3_Missense_Mutation_p.G406V			P23141	EST1_HUMAN	carboxylesterase 1	405					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GTCTGTTCCTCCTAAGTATTT	0.483													7	171	---	---	---	---
AMFR	267	broad.mit.edu	37	16	56423201	56423201	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:56423201C>A	ENST00000290649.5	-	9	1382	c.1172G>T	c.(1171-1173)aGg>aTg	p.R391M		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	391					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						ATGTTCTTCCCTGACACGATT	0.458													6	111	---	---	---	---
CCDC135	84229	broad.mit.edu	37	16	57752294	57752294	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:57752294G>T	ENST00000360716.3	+	9	1334	c.1113G>T	c.(1111-1113)tgG>tgT	p.W371C	CCDC135_ENST00000394337.4_Missense_Mutation_p.W371C|CCDC135_ENST00000336825.8_Missense_Mutation_p.W306C			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	371						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGTGAGATGGGAGTACATGC	0.527													8	172	---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66426285	66426285	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:66426285G>T	ENST00000563425.2	+	6	1329	c.1216G>T	c.(1216-1218)Ggg>Tgg	p.G406W	CDH5_ENST00000341529.3_Splice_Site_p.G406*			P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	406	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GCATAGCATTGGGTAAGGGGG	0.557													6	120	---	---	---	---
TPPP3	51673	broad.mit.edu	37	16	67424507	67424507	+	Nonsense_Mutation	SNP	C	C	A	rs11552321		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:67424507C>A	ENST00000564104.1	-	2	1058	c.217G>T	c.(217-219)Gag>Tag	p.E73*	TPPP3_ENST00000562206.1_Nonsense_Mutation_p.E73*|TPPP3_ENST00000290942.5_Nonsense_Mutation_p.E73*|TPPP3_ENST00000393957.2_Nonsense_Mutation_p.E73*			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	73					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TTGAACTCCTCATAGTTGATG	0.552													7	230	---	---	---	---
SLC12A4	6560	broad.mit.edu	37	16	67980429	67980429	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:67980429C>A	ENST00000422611.2	-	17	2394	c.2355G>T	c.(2353-2355)ctG>ctT	p.L785L	SLC12A4_ENST00000316341.3_Silent_p.L783L|SLC12A4_ENST00000572037.1_Silent_p.L735L|SLC12A4_ENST00000541864.2_Silent_p.L752L|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000576616.1_Silent_p.L783L|SLC12A4_ENST00000537830.2_Silent_p.L777L	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	783					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCATGCCTCCCAGGCCACAGG	0.627													5	93	---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68713813	68713813	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:68713813T>C	ENST00000264012.4	+	7	1347	c.803T>C	c.(802-804)cTc>cCc	p.L268P	CDH3_ENST00000581171.1_Missense_Mutation_p.L213P|CDH3_ENST00000429102.2_Missense_Mutation_p.L268P	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	268	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCACACGACCTCATGTTCACC	0.552													4	98	---	---	---	---
AARS	16	broad.mit.edu	37	16	70303597	70303597	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:70303597G>T	ENST00000261772.8	-	7	1029	c.886C>A	c.(886-888)Cgg>Agg	p.R296R		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	296					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GCCAGCACCCGGTAGGCCATG	0.587													6	213	---	---	---	---
WWOX	51741	broad.mit.edu	37	16	78466600	78466600	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:78466600G>T	ENST00000566780.1	+	8	1373	c.1007G>T	c.(1006-1008)tGg>tTg	p.W336L	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.W336L|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	336	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CGCAGCTGGTGGGTGTACACA	0.552													8	273	---	---	---	---
KLHDC4	54758	broad.mit.edu	37	16	87782413	87782413	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:87782413C>A	ENST00000270583.5	-	5	430	c.372G>T	c.(370-372)gcG>gcT	p.A124A	KLHDC4_ENST00000347925.5_Silent_p.A124A|KLHDC4_ENST00000353170.5_Silent_p.A67A	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	124										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GCACTACCACCGCCTGTGAAA	0.577													6	169	---	---	---	---
SLC7A5	8140	broad.mit.edu	37	16	87874706	87874706	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:87874706C>A	ENST00000261622.4	-	3	785	c.720G>T	c.(718-720)gtG>gtT	p.V240V	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	240					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		CAATGTTCCCCACATCCAGTT	0.517													6	90	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89348394	89348394	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:89348394C>A	ENST00000301030.4	-	9	5016	c.4556G>T	c.(4555-4557)aGg>aTg	p.R1519M	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1519M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1519	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCCCTCGTCCCTGGACTTGTC	0.612													6	91	---	---	---	---
FANCA	2175	broad.mit.edu	37	16	89806480	89806480	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:89806480G>T	ENST00000389301.3	-	39	3886	c.3856C>A	c.(3856-3858)Cac>Aac	p.H1286N	FANCA_ENST00000568369.1_Missense_Mutation_p.H1286N|ZNF276_ENST00000289816.5_3'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1286					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCACAAACGTGGAAAGCCTTT	0.542			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	297	---	---	---	---
GEMIN4	50628	broad.mit.edu	37	17	649429	649429	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:649429G>T	ENST00000576778.1	-	1	3162	c.1821C>A	c.(1819-1821)ccC>ccA	p.P607P	GEMIN4_ENST00000319004.5_Silent_p.P618P			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	618					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TTTCTTCCTTGGGTGTAGAGA	0.507													8	161	---	---	---	---
TUSC5	286753	broad.mit.edu	37	17	1198824	1198824	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:1198824C>A	ENST00000333813.3	+	2	766	c.427C>A	c.(427-429)Cgg>Agg	p.R143R		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	143					response to biotic stimulus	integral to membrane		p.R143W(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGACGGCGCCCGGAGGCTGGG	0.622													6	172	---	---	---	---
METTL16	79066	broad.mit.edu	37	17	2323643	2323643	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:2323643C>A	ENST00000263092.6	-	10	1437	c.1310G>T	c.(1309-1311)cGg>cTg	p.R437L	METTL16_ENST00000538844.1_Missense_Mutation_p.R219L|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16								methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CTCGCCTTCCCGCAGAGCAGG	0.647													6	175	---	---	---	---
OR1A1	8383	broad.mit.edu	37	17	3119035	3119035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:3119035G>T	ENST00000304094.1	+	1	121	c.121G>T	c.(121-123)Gga>Tga	p.G41*		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CACATTGATTGGAAACCTGCT	0.458													7	253	---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4713047	4713047	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:4713047C>A	ENST00000263088.6	+	8	807	c.676C>A	c.(676-678)Cga>Aga	p.R226R	PLD2_ENST00000572940.1_Silent_p.R226R	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	226	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CTGCTGTGGCCGAGACCAAGT	0.597													5	157	---	---	---	---
SAT2	112483	broad.mit.edu	37	17	7530473	7530473	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:7530473C>A	ENST00000269298.5	-	3	409	c.190G>T	c.(190-192)Ggg>Tgg	p.G64W	SAT2_ENST00000380466.2_5'UTR|SAT2_ENST00000573566.1_Missense_Mutation_p.G64W|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576728.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	64	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	AGTAGCTTCCCGGGCGCTGGA	0.547													5	94	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7696466	7696466	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:7696466C>A	ENST00000572933.1	+	48	8972	c.7512C>A	c.(7510-7512)ctC>ctA	p.L2504L	DNAH2_ENST00000389173.2_Silent_p.L2504L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2504	AAA 3 (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)				TGATCCGCCTCTGGATTGACT	0.517													5	88	---	---	---	---
GLP2R	9340	broad.mit.edu	37	17	9757884	9757884	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:9757884C>A	ENST00000262441.5	+	5	1090	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	GLP2R_ENST00000574745.1_Missense_Mutation_p.L13I	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	193					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCTTATCTCCCTCTTCCTGGC	0.512													8	345	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10295964	10295964	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:10295964C>A	ENST00000403437.2	-	38	5558		c.e38-1		RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal						muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTCACGTACCTGCAGCCAAG	0.478									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	168	---	---	---	---
SMCR8	140775	broad.mit.edu	37	17	18219210	18219210	+	Missense_Mutation	SNP	C	C	A	rs147939354	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:18219210C>A	ENST00000406438.3	+	1	587	c.107C>A	c.(106-108)cCc>cAc	p.P36H		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	36										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CCGCTCTTCCCCTTCGCCAGT	0.567													6	79	---	---	---	---
SPAG5	10615	broad.mit.edu	37	17	26910636	26910636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:26910636G>A	ENST00000321765.5	-	15	2910	c.2578C>T	c.(2578-2580)Cag>Tag	p.Q860*		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	860					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTTGCTCCTGGTTATCTGCT	0.468													4	107	---	---	---	---
TLCD1	116238	broad.mit.edu	37	17	27051565	27051565	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:27051565G>T	ENST00000292090.3	-	4	817	c.707C>A	c.(706-708)cCc>cAc	p.P236H	TLCD1_ENST00000394933.3_Missense_Mutation_p.P189H	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	236						integral to membrane				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					TTGCTTCTTGGGGACATGCTC	0.527													7	184	---	---	---	---
MRM1	79922	broad.mit.edu	37	17	34958334	34958334	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:34958334G>T	ENST00000250156.7	+	1	334	c.95G>T	c.(94-96)gGg>gTg	p.G32V		NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	32					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CGGCCTGGTGGGGAGGAGCTA	0.677													6	106	---	---	---	---
MRM1	79922	broad.mit.edu	37	17	34964758	34964758	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:34964758C>A	ENST00000250156.7	+	5	1208	c.969C>A	c.(967-969)ccC>ccA	p.P323P	MRM1_ENST00000585770.1_Silent_p.P128P	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	323					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCCAAGACCCCCAAGAACCCT	0.567													7	157	---	---	---	---
MLLT6	4302	broad.mit.edu	37	17	36865473	36865473	+	Silent	SNP	G	G	T	rs144559323		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:36865473G>T	ENST00000325718.7	+	5	493	c.402G>T	c.(400-402)tcG>tcT	p.S134S	MLLT6_ENST00000378137.5_Silent_p.S134S	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	134					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	p.S134S(1)		breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGGCGGCCTCGGGAGCCTGCA	0.642			T	MLL	AL								8	278	---	---	---	---
KRT13	3860	broad.mit.edu	37	17	39659272	39659272	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:39659272G>T	ENST00000246635.3	-	4	860	c.814C>A	c.(814-816)Cgc>Agc	p.R272S	KRT13_ENST00000336861.3_Missense_Mutation_p.R272S|KRT13_ENST00000587544.1_Missense_Mutation_p.R272S	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	272	Linker 12.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R272S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCCAGCACGCGGGTCAGGTCA	0.602													6	329	---	---	---	---
STAT3	6774	broad.mit.edu	37	17	40481454	40481454	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:40481454C>A	ENST00000264657.5	-	14	1567	c.1255G>T	c.(1255-1257)Ggg>Tgg	p.G419W	STAT3_ENST00000404395.3_Missense_Mutation_p.G419W|STAT3_ENST00000588969.1_Missense_Mutation_p.G419W|STAT3_ENST00000585517.1_Missense_Mutation_p.G419W|STAT3_ENST00000389272.3_Missense_Mutation_p.G321W	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	419					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCCCCATTCCCACATCTCTGC	0.522									Hyperimmunoglobulin E Recurrent Infection Syndrome				8	325	---	---	---	---
TUBG1	7283	broad.mit.edu	37	17	40764504	40764504	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:40764504C>A	ENST00000251413.3	+	5	521	c.459C>A	c.(457-459)ctC>ctA	p.L153L		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	153					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GTTCCTACCTCTTAGAACGGC	0.517													6	160	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41246133	41246133	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:41246133G>T	ENST00000309486.4	-	9	1554	c.527C>A	c.(526-528)cCc>cAc	p.P176H	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.P472H|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.P472H|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.P472H|BRCA1_ENST00000357654.3_Missense_Mutation_p.P472H|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.P425H|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591849.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	472					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTTAAGTTGGGGAGGCTTGC	0.358			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			7	149	---	---	---	---
PPP1R9B	84687	broad.mit.edu	37	17	48216821	48216821	+	Silent	SNP	G	G	T	rs72840637	by1000genomes	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:48216821G>T	ENST00000316878.6	-	8	1988	c.1986C>A	c.(1984-1986)ccC>ccA	p.P662P	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	662	Interacts with TGN38 (By similarity).				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	p.P661P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CCAGCTTCTCGGGCTCCATGT	0.632													6	216	---	---	---	---
PPP1R9B	84687	broad.mit.edu	37	17	48221049	48221049	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:48221049C>A	ENST00000316878.6	-	5	1535	c.1533G>T	c.(1531-1533)atG>atT	p.M511I	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	511	Interacts with RGS2 (By similarity).|PDZ.				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CCCCGGCGCCCATGCCGATGA	0.632													7	113	---	---	---	---
C17orf47	284083	broad.mit.edu	37	17	56619235	56619235	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:56619235C>A	ENST00000321691.3	-	2	1835	c.1654G>T	c.(1654-1656)Ggg>Tgg	p.G552W	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	552										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGTCCTCCCATCCCCCAAG	0.488													6	158	---	---	---	---
CA4	762	broad.mit.edu	37	17	58236707	58236707	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:58236707G>T	ENST00000300900.4	+	8	960	c.861G>T	c.(859-861)ccG>ccT	p.P287P		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	287					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CCGGGGCCCCGGGTCGGCCGC	0.662													4	11	---	---	---	---
USP32	84669	broad.mit.edu	37	17	58422902	58422902	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:58422902C>A	ENST00000300896.4	-	2	320	c.126G>T	c.(124-126)atG>atT	p.M42I	USP32_ENST00000393003.3_Missense_Mutation_p.M42I	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	42					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AGTGCTGGCCCATGTAATATG	0.438													5	78	---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74003831	74003831	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:74003831C>A	ENST00000301607.3	-	22	5708	c.5455G>T	c.(5455-5457)Ggg>Tgg	p.G1819W	EVPL_ENST00000586740.1_Missense_Mutation_p.G1841W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1819	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCACCGAGCCCGAGAGAGAAG	0.597													5	166	---	---	---	---
ST6GALNAC1	55808	broad.mit.edu	37	17	74622831	74622831	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:74622831C>A	ENST00000156626.7	-	5	1412	c.1213G>T	c.(1213-1215)Ggg>Tgg	p.G405W		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	405					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GTCCGAGTCCCCACATCCTGT	0.522													8	291	---	---	---	---
CBX4	8535	broad.mit.edu	37	17	77808663	77808663	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:77808663C>A	ENST00000269397.4	-	5	955	c.778G>T	c.(778-780)Gga>Tga	p.G260*		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	260	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACGATGCGTCCGTTCTTGTTC	0.592											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	340	---	---	---	---
SLC25A10	1468	broad.mit.edu	37	17	79682751	79682751	+	Silent	SNP	C	C	A	rs141437548		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:79682751C>A	ENST00000331531.5	+	4	477	c.357C>A	c.(355-357)ccC>ccA	p.P119P	SLC25A10_ENST00000541223.1_Silent_p.P274P|SLC25A10_ENST00000571730.1_Silent_p.P274P|SLC25A10_ENST00000350690.5_Silent_p.P119P|SLC25A10_ENST00000545862.1_Silent_p.P76P	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	119					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGGGGACGCCCGCAGACTTGG	0.657													6	139	---	---	---	---
HEXDC	284004	broad.mit.edu	37	17	80399061	80399061	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:80399061C>A	ENST00000337014.6	+	10	1645	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	HEXDC_ENST00000327949.9_Missense_Mutation_p.P361H|HEXDC_ENST00000577944.1_Silent_p.P363P	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	0					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGCTCCTTCCCTGGCAGCAAC	0.657													6	126	---	---	---	---
PPP4R1	9989	broad.mit.edu	37	18	9570166	9570166	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:9570166G>T	ENST00000400556.3	-	11	1635	c.1562C>A	c.(1561-1563)cCa>cAa	p.P521Q	PPP4R1_ENST00000400555.3_Missense_Mutation_p.P504Q	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	521					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TTTAACATCTGGATCATCAAT	0.353													5	100	---	---	---	---
ESCO1	114799	broad.mit.edu	37	18	19154035	19154035	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:19154035G>T	ENST00000269214.5	-	4	1707	c.770C>A	c.(769-771)cCg>cAg	p.P257Q		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	257					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	p.P257Q(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ATTCTTTTTCGGGACCACTGA	0.413													7	327	---	---	---	---
GATA6	2627	broad.mit.edu	37	18	19780663	19780663	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:19780663C>A	ENST00000269216.3	+	7	1942	c.1665C>A	c.(1663-1665)ccC>ccA	p.P555P	RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Silent_p.P555P	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	555					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCACCAATCCCGAGAACAGCG	0.607													5	134	---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28993143	28993143	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:28993143G>T	ENST00000359747.4	+	15	2794	c.2765G>T	c.(2764-2766)gGg>gTg	p.G922V	DSG4_ENST00000308128.4_Missense_Mutation_p.G903V|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	903					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTGGTCCATGGGGATATTATT	0.423													6	138	---	---	---	---
ST8SIA5	29906	broad.mit.edu	37	18	44260212	44260212	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:44260212C>A	ENST00000315087.7	-	7	1584	c.924G>T	c.(922-924)gcG>gcT	p.A308A	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.A277A|ST8SIA5_ENST00000538168.1_Silent_p.A344A	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	308					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						GCTCCAGCGCCGCAGTGACCA	0.607													4	100	---	---	---	---
ST8SIA5	29906	broad.mit.edu	37	18	44284609	44284609	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:44284609C>A	ENST00000315087.7	-	2	810	c.150G>T	c.(148-150)gaG>gaT	p.E50D	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Intron|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E86D	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	50					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						CAAAAGGCCCCTCATAAAATT	0.512													6	128	---	---	---	---
CXXC1	30827	broad.mit.edu	37	18	47812543	47812543	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:47812543C>A	ENST00000285106.6	-	4	1022	c.308G>T	c.(307-309)cGg>cTg	p.R103L	CXXC1_ENST00000412036.2_Missense_Mutation_p.R103L|CXXC1_ENST00000589940.1_Missense_Mutation_p.R103L	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	103					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	p.R103L(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACCCTCATCCCGGGGCTCACT	0.642													6	166	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65179270	65179270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:65179270G>T	ENST00000310045.7	-	2	4079	c.2606C>A	c.(2605-2607)tCa>tAa	p.S869*	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	859						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ACCAGGAAGTGAGGTAATGAC	0.428													7	356	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74637406	74637406	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:74637406C>A	ENST00000253159.8	+	22	4115	c.3917C>A	c.(3916-3918)cCa>cAa	p.P1306Q	ZNF236_ENST00000320610.9_Missense_Mutation_p.P1308Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1306					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCTACTGACCCAAACGTGTTT	0.488													5	105	---	---	---	---
AES	166	broad.mit.edu	37	19	3055700	3055700	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:3055700C>A	ENST00000221561.8	-	5	639	c.460G>T	c.(460-462)Ggg>Tgg	p.G154W	AES_ENST00000327141.4_Missense_Mutation_p.G87W|AES_ENST00000592330.1_Intron|AES_ENST00000586839.1_Missense_Mutation_p.G31W	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	87	Gly/Pro-rich (GP domain).				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAAATCCCGTTCAGCCTT	0.652													4	79	---	---	---	---
MYO1F	4542	broad.mit.edu	37	19	8595449	8595449	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:8595449G>T	ENST00000338257.8	-	20	2319	c.2052C>A	c.(2050-2052)ctC>ctA	p.L684L		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	684						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCTCCTCCAGGAGGAAAAGCT	0.652													6	104	---	---	---	---
CCDC151	115948	broad.mit.edu	37	19	11531589	11531589	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:11531589C>A	ENST00000356392.4	-	13	1789	c.1702G>T	c.(1702-1704)Gag>Tag	p.E568*	CCDC151_ENST00000545100.1_Nonsense_Mutation_p.E514*|CCDC151_ENST00000591179.1_Nonsense_Mutation_p.E508*|CCDC151_ENST00000586836.1_Nonsense_Mutation_p.E377*	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	568										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GTCACTACCTCGTTGTCCTCC	0.577													4	96	---	---	---	---
SYDE1	85360	broad.mit.edu	37	19	15224692	15224692	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:15224692C>A	ENST00000600252.1	+	5	2739	c.1097C>A	c.(1096-1098)cCg>cAg	p.P366Q	SYDE1_ENST00000600440.1_Missense_Mutation_p.P642Q|SYDE1_ENST00000342784.2_Missense_Mutation_p.P709Q			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	709					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CCCTTCAACCCGCACCTGAAT	0.607													7	201	---	---	---	---
CYP4F12	66002	broad.mit.edu	37	19	15794491	15794491	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:15794491C>A	ENST00000550308.1	+	7	1216	c.836C>A	c.(835-837)cCc>cAc	p.P279H	CYP4F12_ENST00000324632.10_Missense_Mutation_p.P279H	NM_023944.3	NP_076433			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)					CGCACCCTCCCCACTCAGGGT	0.532													7	141	---	---	---	---
KLHL26	55295	broad.mit.edu	37	19	18780060	18780060	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:18780060C>A	ENST00000599006.1	+	4	441	c.414C>A	c.(412-414)ccC>ccA	p.P138P	KLHL26_ENST00000300976.4_3'UTR			Q53HC5	KLH26_HUMAN	kelch-like family member 26	0										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGGTAGCCCCCAAGACCCCCG	0.701													5	70	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19339217	19339217	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:19339217C>A	ENST00000252575.6	+	8	2887	c.2788C>A	c.(2788-2790)Cct>Act	p.P930T	NCAN_ENST00000538881.1_Missense_Mutation_p.P381T	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGCTGTTCCTCCTGGGACACC	0.637													7	146	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039790	31039790	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:31039790G>T	ENST00000355537.3	+	4	3411	c.3264G>T	c.(3262-3264)ctG>ctT	p.L1088L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1088					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)					AGGAGACTCTGGGAGAGCAGA	0.517													5	67	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769360	31769360	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:31769360G>T	ENST00000240587.4	-	2	1666	c.1339C>A	c.(1339-1341)Ctg>Atg	p.L447M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	447					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)					GTGGCTGCCAGGGGCACGGAC	0.557													6	123	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34857283	34857283	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:34857283G>T	ENST00000415930.3	+	3	443	c.273G>T	c.(271-273)ctG>ctT	p.L91L	GPI_ENST00000356487.5_Silent_p.L52L|GPI_ENST00000586425.1_Silent_p.L52L	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	52					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGCATATCCTGGTGGATTACT	0.552													7	160	---	---	---	---
GAPDHS	26330	broad.mit.edu	37	19	36027833	36027833	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:36027833C>A	ENST00000222286.4	+	2	302	c.186C>A	c.(184-186)ccC>ccA	p.P62P		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	62					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CTCCTCACCCCGCTACTCCTC	0.592													5	99	---	---	---	---
CLIP3	25999	broad.mit.edu	37	19	36508789	36508789	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:36508789C>A	ENST00000360535.4	-	10	1515	c.1288G>T	c.(1288-1290)Ggg>Tgg	p.G430W	CLIP3_ENST00000593074.1_Missense_Mutation_p.G430W|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	430					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGCACGATCCCCTGCTTCTGG	0.632													6	106	---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36594583	36594583	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:36594583C>A	ENST00000401500.2	+	30	3888	c.3853C>A	c.(3853-3855)Ctg>Atg	p.L1285M	WDR62_ENST00000270301.7_Missense_Mutation_p.L1280M	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1280					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGAGCCTGCCCTGCGTTCCTG	0.662													6	100	---	---	---	---
ZNF585A	199704	broad.mit.edu	37	19	37646805	37646805	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:37646805C>A	ENST00000356958.4	-	4	512	c.254G>T	c.(253-255)tGg>tTg	p.W85L	ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000392157.2_Missense_Mutation_p.W30L|ZNF585A_ENST00000292841.5_Missense_Mutation_p.W30L|ZNF585A_ENST00000355533.2_Missense_Mutation_p.W30L			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	85	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGCAGTGCCCATGGTTCCTT	0.512													5	87	---	---	---	---
ZNF585B	92285	broad.mit.edu	37	19	37677025	37677025	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:37677025C>A	ENST00000532828.2	-	5	1665	c.1414G>T	c.(1414-1416)Ggg>Tgg	p.G472W	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.G60W|ZNF585B_ENST00000531805.1_Missense_Mutation_p.G417W|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGCCTTCCCACATTTATTG	0.393													7	135	---	---	---	---
ZNF607	84775	broad.mit.edu	37	19	38190150	38190150	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:38190150G>T	ENST00000355202.4	-	5	1477	c.882C>A	c.(880-882)tcC>tcA	p.S294S	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.S293S	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCACAAGGTGGGAAAACTGAC	0.428													6	91	---	---	---	---
SNRPA	6626	broad.mit.edu	37	19	41257332	41257332	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:41257332C>A	ENST00000243563.3	+	1	569	c.19C>A	c.(19-21)Cgc>Agc	p.R7S	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	7						nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCCCGAGACCCGCCCTAACCA	0.493													6	208	---	---	---	---
DMRTC2	63946	broad.mit.edu	37	19	42353218	42353218	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:42353218C>A	ENST00000269945.3	+	6	700	c.649C>A	c.(649-651)Ctc>Atc	p.L217I	DMRTC2_ENST00000596827.1_Missense_Mutation_p.L217I	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	217	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TGGCACCTCCCTCCAGCTGCC	0.557													7	163	---	---	---	---
PSG1	5669	broad.mit.edu	37	19	43382176	43382176	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:43382176G>T	ENST00000244296.2	-	2	456	c.319C>A	c.(319-321)Ctg>Atg	p.L107M	PSG1_ENST00000436291.2_Missense_Mutation_p.L107M|PSG1_ENST00000595124.1_Missense_Mutation_p.L107M|PSG1_ENST00000403380.3_Missense_Mutation_p.L107M|PSG1_ENST00000312439.6_Missense_Mutation_p.L107M|PSG1_ENST00000595356.1_Missense_Mutation_p.L107M|PSG1_ENST00000601073.1_5'UTR	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGGATCAGCAGGGATGCATTG	0.448													10	478	---	---	---	---
XRCC1	7515	broad.mit.edu	37	19	44050812	44050812	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:44050812G>T	ENST00000262887.5	-	12	1908	c.1361C>A	c.(1360-1362)cCt>cAt	p.P454H	XRCC1_ENST00000543982.1_Missense_Mutation_p.P423H			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	454					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GGTCTCTTCAGGGGTTGGGGG	0.612								Other BER factors					7	199	---	---	---	---
CEACAM20	125931	broad.mit.edu	37	19	45029262	45029262	+	RNA	SNP	A	A	G			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:45029262A>G	ENST00000454753.1	-	0	346							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGGACTCCATACGGTACAAAG	0.587													35	85	---	---	---	---
BCL3	602	broad.mit.edu	37	19	45262794	45262794	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:45262794C>A	ENST00000164227.5	+	9	1531	c.1287C>A	c.(1285-1287)ccC>ccA	p.P429P		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	429	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	p.P421P(2)		kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CATCTCCACCCGCCTTCCTGC	0.682			T	IGH@	CLL								5	192	---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45389443	45389443	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:45389443C>A	ENST00000252483.5	+	8	1314	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	438					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCAAGACCCCCTACTTTGATG	0.647													5	68	---	---	---	---
HSD17B14	51171	broad.mit.edu	37	19	49339660	49339660	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:49339660C>A	ENST00000263278.4	-	1	275	c.9G>T	c.(7-9)acG>acT	p.T3T	HSD17B14_ENST00000599157.1_Silent_p.T3T	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	3					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		AGCGCGTTCCCGTAGCCATCC	0.647											OREG0025610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	68	---	---	---	---
ZNF473	25888	broad.mit.edu	37	19	50549573	50549573	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:50549573G>T	ENST00000595661.1	+	6	2368	c.1873G>T	c.(1873-1875)Ggg>Tgg	p.G625W	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.G613W|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.G625W|ZNF473_ENST00000270617.3_Missense_Mutation_p.G625W			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	625					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GGGTGAGCAAGGGAAAGCCAT	0.478													5	69	---	---	---	---
ZNF578	147660	broad.mit.edu	37	19	53008033	53008033	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:53008033G>T	ENST00000421239.2	+	5	433	c.189G>T	c.(187-189)gtG>gtT	p.V63V		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGGAGGCTGTGGGTGAGGAAA	0.483													7	185	---	---	---	---
ZNF468	90333	broad.mit.edu	37	19	53345186	53345186	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:53345186C>A	ENST00000595646.1	-	4	481	c.361G>T	c.(361-363)Ggt>Tgt	p.G121C	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.G68C|ZNF468_ENST00000396409.4_Missense_Mutation_p.G68C|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CCTGTACTACCAGCCAACTCT	0.428													6	225	---	---	---	---
LILRA6	79168	broad.mit.edu	37	19	54744952	54744952	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:54744952G>T	ENST00000440558.2	-	5	758	c.710C>A	c.(709-711)cCt>cAt	p.P237H	LILRA6_ENST00000396365.2_Missense_Mutation_p.P237H|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.P237H|LILRA6_ENST00000245621.5_Missense_Mutation_p.P237H					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											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)		GCTCTGCCCAGGGGCCAGGAC	0.637													6	79	---	---	---	---
DNAAF3	352909	broad.mit.edu	37	19	55677910	55677910	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:55677910C>A	ENST00000527223.2	-	1	108	c.107G>T	c.(106-108)cGg>cTg	p.R36L	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.R36L|DNAAF3_ENST00000524407.2_5'UTR	NM_001256714.1	NP_001243643	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	0																	CCAAATATCCCGGGACGCCCC	0.622											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	201	---	---	---	---
ZNF132	7691	broad.mit.edu	37	19	58948496	58948496	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:58948496C>A	ENST00000254166.3	-	2	550	c.150G>T	c.(148-150)gaG>gaT	p.E50D		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	50	KRAB.					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)		GCTCCCACTCCTCTTGGGAGA	0.512													5	54	---	---	---	---
CSNK2A1	1457	broad.mit.edu	37	20	476423	476423	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:476423C>A	ENST00000217244.3	-	8	825	c.450G>T	c.(448-450)atG>atT	p.M150I	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.M150I|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.M150I|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.M14I	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	150	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	p.M150I(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GCATAATTCCCATGCTGTGAC	0.408													7	87	---	---	---	---
ATRN	8455	broad.mit.edu	37	20	3564686	3564686	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:3564686C>A	ENST00000262919.5	+	17	2974	c.2906C>A	c.(2905-2907)cCt>cAt	p.P969H	ATRN_ENST00000446916.2_Missense_Mutation_p.P969H	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	969	PSI 3.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCTCCTTCCCTTTTGGCCAG	0.537													8	316	---	---	---	---
FLRT3	23767	broad.mit.edu	37	20	14306228	14306228	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:14306228G>T	ENST00000378053.3	-	2	2181	c.1925C>A	c.(1924-1926)cCa>cAa	p.P642Q	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.P642Q	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	642					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ATCTGAGTCTGGAATACCACT	0.413													6	155	---	---	---	---
ACSS1	84532	broad.mit.edu	37	20	24993555	24993555	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:24993555C>A	ENST00000537502.1	-	9	2882	c.1351G>T	c.(1351-1353)Ggg>Tgg	p.G451W	ACSS1_ENST00000542618.1_Missense_Mutation_p.G413W|ACSS1_ENST00000432802.2_Missense_Mutation_p.G534W|ACSS1_ENST00000323482.4_Missense_Mutation_p.G534W			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	534					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGGTAAGCCCCGTCTCCAGTG	0.567													5	95	---	---	---	---
FOXS1	2307	broad.mit.edu	37	20	30432472	30432472	+	Missense_Mutation	SNP	G	G	A	rs2296917		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:30432472G>A	ENST00000375978.3	-	1	948	c.874C>T	c.(874-876)Cca>Tca	p.P292S		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	292			P -> A (in dbSNP:rs2296917).		anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA 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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TGGTCAGTTGGCAGGGGCAGT	0.687													5	40	---	---	---	---
SUN5	140732	broad.mit.edu	37	20	31571702	31571702	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:31571702C>A	ENST00000356173.3	-	13	1130	c.1038G>T	c.(1036-1038)tgG>tgT	p.W346C	SUN5_ENST00000375523.3_Missense_Mutation_p.W321C	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	346	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CTGGGTTCCCCCAGTTGCTTG	0.597													6	119	---	---	---	---
RBM39	9584	broad.mit.edu	37	20	34312596	34312596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:34312596C>A	ENST00000361162.6	-	8	967	c.583G>T	c.(583-585)Gga>Tga	p.G195*	RBM39_ENST00000407261.4_Nonsense_Mutation_p.G38*|RBM39_ENST00000528062.3_Nonsense_Mutation_p.G173*|RBM39_ENST00000253363.6_Nonsense_Mutation_p.G195*	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	195	RRM 1.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TAAGCAATTCCTTTGGAACGT	0.418													7	85	---	---	---	---
TTI1	9675	broad.mit.edu	37	20	36640476	36640476	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:36640476C>A	ENST00000373448.2	-	3	1981	c.1743G>T	c.(1741-1743)atG>atT	p.M581I	TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000449821.1_Missense_Mutation_p.M581I|TTI1_ENST00000373447.3_Missense_Mutation_p.M581I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	581							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GCTCCTCTCCCATTTCCTCAG	0.448													7	223	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37194025	37194025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:37194025G>T	ENST00000262879.6	+	25	4005	c.3721G>T	c.(3721-3723)Gga>Tga	p.G1241*	RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.G1020*|RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.G1238*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.G1241*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1241	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGAAGATATTGGAGCTAGCAT	0.383													6	174	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40052148	40052148	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:40052148G>T	ENST00000373233.3	-	30	4716	c.4539C>A	c.(4537-4539)ccC>ccA	p.P1513P		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1513					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTTTCCATGTGGGTAGACGAC	0.408													10	513	---	---	---	---
PIGT	51604	broad.mit.edu	37	20	44054219	44054219	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:44054219C>A	ENST00000279036.6	+	12	1570	c.1490C>A	c.(1489-1491)cCa>cAa	p.P497Q	PIGT_ENST00000372689.5_Missense_Mutation_p.P430Q|PIGT_ENST00000543458.2_Missense_Mutation_p.P441Q|PIGT_ENST00000535404.1_Missense_Mutation_p.P342Q|PIGT_ENST00000341555.5_Missense_Mutation_p.P303Q|PIGT_ENST00000545755.1_Missense_Mutation_p.P235Q|PIGT_ENST00000279035.9_Missense_Mutation_p.P395Q	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	497					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCCAGGTTCCCAGTCTCTGAT	0.587													4	34	---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45130191	45130191	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:45130191C>A	ENST00000457685.2	-	6	2996	c.1673G>T	c.(1672-1674)gGg>gTg	p.G558V	ZNF334_ENST00000347606.4_Missense_Mutation_p.G596V|ZNF334_ENST00000593880.1_Missense_Mutation_p.G619V			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGGTTTCTCCCCAGTGTGAGT	0.428													7	124	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47317359	47317359	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:47317359C>A	ENST00000396220.1	-	7	871	c.849G>T	c.(847-849)gcG>gcT	p.A283A	PREX1_ENST00000371941.3_Silent_p.A283A			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	283	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	p.A283A(2)		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)			GGATGTTGCCCGCAGAGATCT	0.547													6	230	---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52644936	52644936	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:52644936C>A	ENST00000395961.3	-	4	884	c.718G>T	c.(718-720)Ggg>Tgg	p.G240W	BCAS1_ENST00000371440.3_Missense_Mutation_p.G240W|BCAS1_ENST00000371435.2_Missense_Mutation_p.G240W|BCAS1_ENST00000411563.1_Missense_Mutation_p.G143W	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	240						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTTACCTTCCCTGCAGGGACA	0.557													7	198	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61513251	61513251	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:61513251C>A	ENST00000266070.4	-	16	4382	c.4057G>T	c.(4057-4059)Ggg>Tgg	p.G1353W	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1353W	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1353					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)					GCCGGCACCCCGTCCTCTGCT	0.577													5	163	---	---	---	---
MYT1	4661	broad.mit.edu	37	20	62854504	62854504	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:62854504G>T	ENST00000536311.1	+	15	2882	c.2518G>T	c.(2518-2520)Ggg>Tgg	p.G840W	MYT1_ENST00000360149.4_Missense_Mutation_p.G515W|MYT1_ENST00000328439.1_Missense_Mutation_p.G813W			Q01538	MYT1_HUMAN	myelin transcription factor 1	813					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCACATCACCGGGAACTACGC	0.637													5	192	---	---	---	---
LTN1	26046	broad.mit.edu	37	21	30304866	30304866	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr21:30304866C>A	ENST00000389194.2	-	28	5139	c.5134G>T	c.(5134-5136)Ggg>Tgg	p.G1712W	LTN1_ENST00000361371.5_Missense_Mutation_p.G1666W	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1666							ligase activity|zinc ion binding	p.G1666W(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ACTCTTTTCCCACTTTCTACT	0.403													7	264	---	---	---	---
PAXBP1	94104	broad.mit.edu	37	21	34117169	34117169	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr21:34117169C>A	ENST00000331923.4	-	13	2313	c.2124G>T	c.(2122-2124)gtG>gtT	p.V708V	PAXBP1_ENST00000290178.4_Silent_p.V708V	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1									p.V708V(1)									GTGTAATTCCCACCATTCTTG	0.318													6	177	---	---	---	---
PRDM15	63977	broad.mit.edu	37	21	43223036	43223036	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr21:43223036C>A	ENST00000422911.1	-	24	3051	c.2950G>T	c.(2950-2952)Ggg>Tgg	p.G984W	PRDM15_ENST00000538201.1_Missense_Mutation_p.G947W|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.G964W|PRDM15_ENST00000447207.2_Missense_Mutation_p.G927W|PRDM15_ENST00000269844.3_Missense_Mutation_p.G1293W	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	1293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCAGCTTTCCCGTGCTTCCCT	0.577													6	298	---	---	---	---
SLC19A1	6573	broad.mit.edu	37	21	46951361	46951361	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr21:46951361G>T	ENST00000311124.4	-	3	1043	c.891C>A	c.(889-891)ccC>ccA	p.P297P	SLC19A1_ENST00000567670.1_Silent_p.P297P|SLC19A1_ENST00000380010.4_Silent_p.P297P|SLC19A1_ENST00000485649.2_Silent_p.P257P	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	297					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		TGTTGGTGGTGGGGTCCACCT	0.657													5	95	---	---	---	---
POTEH	23784	broad.mit.edu	37	22	16287667	16287667	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:16287667C>A	ENST00000343518.6	-	1	270	c.219G>T	c.(217-219)agG>agT	p.R73S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	73								p.R73R(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCCGCTCCCCCTGCACCAGG	0.577													8	329	---	---	---	---
CECR1	51816	broad.mit.edu	37	22	17688080	17688080	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:17688080C>A	ENST00000399839.1	-	3	693	c.423G>T	c.(421-423)agG>agT	p.R141S	CECR1_ENST00000449907.2_Missense_Mutation_p.R99S|CECR1_ENST00000399837.2_Missense_Mutation_p.R141S|CECR1_ENST00000262607.3_Missense_Mutation_p.R141S	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	141	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GCATGATCCCCCTTGGGGTGA	0.537													6	130	---	---	---	---
CLTCL1	8218	broad.mit.edu	37	22	19198013	19198013	+	Silent	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:19198013T>C	ENST00000263200.10	-	20	3144	c.3072A>G	c.(3070-3072)ctA>ctG	p.L1024L	CLTCL1_ENST00000427926.1_Silent_p.L1024L|CLTCL1_ENST00000353891.5_Silent_p.L1024L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1024	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACAGATTCTGTAGATTCCTGA	0.552			T	?	ALCL								3	47	---	---	---	---
YPEL1	29799	broad.mit.edu	37	22	22065049	22065049	+	Translation_Start_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:22065049C>A	ENST00000339468.3	-	0	368				YPEL1_ENST00000403503.1_De_novo_Start_OutOfFrame	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)							nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					CTGGGCACTCCTCACTCAGCT	0.532													6	149	---	---	---	---
RAB36	9609	broad.mit.edu	37	22	23500217	23500217	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:23500217C>A	ENST00000263116.2	+	7	671	c.631C>A	c.(631-633)Ctg>Atg	p.L211M	RAB36_ENST00000341989.4_Missense_Mutation_p.L189M	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	211					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		CGTGCAGACCCTGGAGCATAC	0.627													7	192	---	---	---	---
BCR	613	broad.mit.edu	37	22	23524102	23524102	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:23524102C>A	ENST00000305877.8	+	1	1706	c.955C>A	c.(955-957)Cgg>Agg	p.R319R	BCR_ENST00000359540.3_Silent_p.R319R|BCR_ENST00000398512.5_Silent_p.R319R	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	319	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CTACTCCCCCCGGAGTTTTGA	0.652			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								3	21	---	---	---	---
FAM211B	388886	broad.mit.edu	37	22	24982284	24982284	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:24982284C>T	ENST00000318753.8	-	4	541	c.518G>A	c.(517-519)cGc>cAc	p.R173H	GGT1_ENST00000248923.4_Intron	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	173																	GCTCAGGTAGCGTGTGATGTG	0.627													81	130	---	---	---	---
TMEM211	255349	broad.mit.edu	37	22	25331314	25331314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:25331314C>A	ENST00000407886.1	-	4	628	c.376G>T	c.(376-378)Gaa>Taa	p.E126*	TMEM211_ENST00000423535.1_Nonsense_Mutation_p.E197*|TMEM211_ENST00000382744.1_Nonsense_Mutation_p.E126*			Q6ICI0	TM211_HUMAN	transmembrane protein 211	197						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGTTCATTTCTGGCACAAAG	0.493													42	80	---	---	---	---
ASCC2	84164	broad.mit.edu	37	22	30200815	30200815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:30200815C>A	ENST00000397771.2	-	14	1342	c.1165G>T	c.(1165-1167)Gag>Tag	p.E389*	ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E389*|ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E313*			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GTCCGCGTCTCGTCCCTGTGA	0.547													6	232	---	---	---	---
MORC2	22880	broad.mit.edu	37	22	31328983	31328983	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:31328983C>A	ENST00000397641.3	-	22	2823	c.2415G>T	c.(2413-2415)agG>agT	p.R805S	MORC2_ENST00000215862.4_Missense_Mutation_p.R743S			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGTACCACTCCCTGTTCACAC	0.577													9	317	---	---	---	---
IL3RA	3563	broad.mit.edu	37	X	1464312	1464312	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:1464312C>A	ENST00000331035.4	+	3	517	c.168C>A	c.(166-168)gcC>gcA	p.A56A	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	56						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		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)			Sargramostim(DB00020)	TTAAAGACGCCGACTATTCTA	0.348													5	225	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5811275	5811275	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:5811275G>T	ENST00000381095.3	-	6	2661	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	NLGN4X_ENST00000275857.6_Silent_p.T678T|NLGN4X_ENST00000381093.2_Silent_p.T698T|NLGN4X_ENST00000381092.1_Silent_p.T678T|NLGN4X_ENST00000538097.1_Silent_p.T678T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	678					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.T678T(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGACGGCAATGGTGACACTTA	0.512													5	77	---	---	---	---
KAL1	3730	broad.mit.edu	37	X	8502428	8502428	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:8502428G>T	ENST00000262648.3	-	13	2065	c.1916C>A	c.(1915-1917)cCa>cAa	p.P639Q		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	639	Fibronectin type-III 4.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CTCCCCTCCTGGGGTCAGCAC	0.562													4	20	---	---	---	---
GRIPAP1	56850	broad.mit.edu	37	X	48847438	48847438	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:48847438G>T	ENST00000376423.4	-	6	415	c.383C>A	c.(382-384)cCc>cAc	p.P128H	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.P136H|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.P181H|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.P181H			Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	181						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CAGGACGGTGGGGGCCGGGCC	0.607													5	47	---	---	---	---
SYP	6855	broad.mit.edu	37	X	49050744	49050744	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:49050744G>T	ENST00000263233.4	-	4	374	c.302C>A	c.(301-303)tCc>tAc	p.S101Y	SYP_ENST00000538567.1_5'UTR|SYP_ENST00000479808.1_Missense_Mutation_p.S101Y	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	101	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GGCTGACGAGGAGTAGTCCCC	0.572													4	31	---	---	---	---
SLC6A14	11254	broad.mit.edu	37	X	115572207	115572207	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:115572207G>T	ENST00000371900.4	+	3	376	c.288G>T	c.(286-288)ctG>ctT	p.L96L		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	96					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	AGTGTTCACTGGGACAATTTG	0.388													6	168	---	---	---	---
DUSP9	1852	broad.mit.edu	37	X	152915608	152915608	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:152915608G>T	ENST00000342782.3	+	4	1268	c.1003G>T	c.(1003-1005)Ggg>Tgg	p.G335W	DUSP9_ENST00000370167.4_Missense_Mutation_p.G335W			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	335	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACTTCATGGGGCAGTTGCT	0.602													6	122	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65273529	65273531	+	RNA	DEL	TTG	TTG	-			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:65273529_65273531delTTG	ENST00000534336.1	+	0	8297_8299					NR_002819.2																						ACAACACGTATTGTTTTCTCAGG	0.414													21	66	---	---	---	---
MIB1	57534	broad.mit.edu	37	18	19395662	19395663	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:19395662_19395663insT	ENST00000261537.6	+	11	1829_1830	c.1565_1566insT	c.(1564-1569)gatttgfs	p.L523fs	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	523					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGTAGTGCTGATTTGAATGCTC	0.411													21	61	---	---	---	---
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								20	53	---	---	---	---
