Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LRIG2	9860	broad.mit.edu	37	1	113636139	113636139	+	Silent	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:113636139A>T	ENST00000361127.4	+	4	666	c.468A>T	c.(466-468)atA>atT	p.I156I		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	156						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CAAATATAATATCAGAAATCA	0.358000													7	31					0	0	0.000157383	0	0
CACNA1I	8911	broad.mit.edu	37	22	40066099	40066099	+	Silent	SNP	C	C	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:40066099C>A	ENST00000336649.4	+	28	4269	c.4269C>A	c.(4267-4269)atC>atA	p.I1423I	CACNA1I_ENST00000401624.1_Silent_p.I1417I|CACNA1I_ENST00000407673.1_Silent_p.I1382I|CACNA1I_ENST00000400164.3_Silent_p.I1382I|CACNA1I_ENST00000404898.1_Silent_p.I1382I|CACNA1I_ENST00000402142.3_Silent_p.I1417I			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1417					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCCTGCTCATCGTCAGCTTCT	0.582000													17	316					5.3912e-06	1.93782e-05	0.00074312	1	0
TRIO	7204	broad.mit.edu	37	5	14485286	14485286	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:14485286C>T	ENST00000344204.4	+	47	6790	c.6766C>T	c.(6766-6768)Cca>Tca	p.P2256S	TRIO_ENST00000537187.1_Missense_Mutation_p.P2256S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2256	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTCATCTAGTCCAAGTGTCCG	0.413000													6	216					0	0	0.00198382	0	0
FER1L5	90342	broad.mit.edu	37	2	97369275	97369275	+	RNA	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:97369275A>G	ENST00000457909.1	+	0	5210							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GGTGAAGATGAGCCTGGAGAT	0.572000													12	32					0	0	0.000978159	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093537	143093537	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:143093537G>A	ENST00000367603.2	-	5	3081	c.2339C>T	c.(2338-2340)gCc>gTc	p.A780V	HIVEP2_ENST00000012134.2_Missense_Mutation_p.A780V|HIVEP2_ENST00000367604.1_Missense_Mutation_p.A780V	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	780					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGAATCAATGGCTGAAGGTGA	0.512000													13	64					0	0	0.00185496	0	0
GPR39	2863	broad.mit.edu	37	2	133403103	133403103	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:133403103A>T	ENST00000329321.3	+	2	1755	c.1286A>T	c.(1285-1287)gAg>gTg	p.E429V	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	429						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGAGTCTCGAGTCACTAGAG	0.522000													15	62					0	0	0.00244969	0	0
KDELC2	143888	broad.mit.edu	37	11	108348424	108348424	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:108348424T>C	ENST00000434945.2	-	6	1442	c.1140A>G	c.(1138-1140)gaA>gaG	p.E380E	KDELC2_ENST00000532730.1_5'UTR|KDELC2_ENST00000323468.5_Silent_p.E436E			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	436						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TCTTCTTGGCTTCTTCATCAT	0.413000													17	71					0	0	0.000958276	0	0
ZBTB44	29068	broad.mit.edu	37	11	130131282	130131282	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:130131282C>A	ENST00000525842.1	-	2	854	c.487G>T	c.(487-489)Gtg>Ttg	p.V163L	ZBTB44_ENST00000357899.4_Missense_Mutation_p.V163L|ZBTB44_ENST00000530205.1_Missense_Mutation_p.V163L|ZBTB44_ENST00000397753.1_Missense_Mutation_p.V163L	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TCTGAGGACACGGGAGAAATG	0.453000													8	42					5.18039e-06	1.87516e-05	0.000157383	1	0
NBEA	26960	broad.mit.edu	37	13	35770345	35770345	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:35770345G>A	ENST00000540320.1	+	31	5806	c.5272G>A	c.(5272-5274)Gca>Aca	p.A1758T	NBEA_ENST00000400445.3_Missense_Mutation_p.A1758T|NBEA_ENST00000379939.2_Missense_Mutation_p.A1755T|NBEA_ENST00000310336.4_Missense_Mutation_p.A1758T			Q8NFP9	NBEA_HUMAN	neurobeachin	1758						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGTTGAAATAGCAGAATGTGG	0.428000													12	44					0	0	0.00136819	0	0
ANGPT1	284	broad.mit.edu	37	8	108264120	108264120	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:108264120C>T	ENST00000520734.1	-	8	1145	c.860G>A	c.(859-861)cGt>cAt	p.R287H	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.R286H			Q15389	ANGP1_HUMAN	angiopoietin 1	487	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.R487H(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AGTTGTGGAACGTAAGGAGTA	0.428000													7	147					0	0	0.000157383	0	0
PRPF40B	25766	broad.mit.edu	37	12	50036081	50036081	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:50036081C>T	ENST00000261897.1	+	19	2394	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	PRPF40B_ENST00000548825.2_Missense_Mutation_p.R650C|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000380281.1_Missense_Mutation_p.R628C			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	628					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CAGGATGCGGCGCAGGGAAGC	0.642000													8	84					0	0	0.000274275	0	0
SORBS1	10580	broad.mit.edu	37	10	97174256	97174256	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:97174256T>A	ENST00000371247.2	-	9	994	c.805A>T	c.(805-807)Agt>Tgt	p.S269C	SORBS1_ENST00000277982.5_Missense_Mutation_p.S269C|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.S269C|SORBS1_ENST00000371246.2_Missense_Mutation_p.S269C|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000353505.5_Missense_Mutation_p.S200C|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371245.3_Missense_Mutation_p.S200C|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.S260C|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.S269C|SORBS1_ENST00000393949.1_Missense_Mutation_p.S260C|SORBS1_ENST00000371249.2_Missense_Mutation_p.S237C			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	269					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTTACGGTACTCGAAACAGCT	0.602000													8	47					0	0	0.000274275	0	0
CAPN3	825	broad.mit.edu	37	15	42701996	42701996	+	Silent	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr15:42701996C>T	ENST00000397163.3	+	18	2223	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	CAPN3_ENST00000397200.4_Silent_p.I156I|CAPN3_ENST00000397204.4_Silent_p.I3I|CAPN3_ENST00000357568.3_Silent_p.I662I|CAPN3_ENST00000349748.3_Silent_p.I576I|CAPN3_ENST00000356316.3_Silent_p.I575I|CAPN3_ENST00000569136.1_Silent_p.I3I|CAPN3_ENST00000318023.7_Silent_p.I662I|CAPN3_ENST00000337571.4_Silent_p.I3I|CAPN3_ENST00000562199.1_3'UTR|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000561817.1_Silent_p.I3I	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	668	Domain IV.|EF-hand 1.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ACATGGAGATCTGTGCAGATG	0.542000													29	111					0	0	0.00209593	0	0
ITGA8	8516	broad.mit.edu	37	10	15647748	15647748	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:15647748G>T	ENST00000378076.3	-	19	2298	c.1945C>A	c.(1945-1947)Cct>Act	p.P649T		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	649					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTCAAGTCAGGAACACACAGA	0.388000													6	31					8.12818e-05	0.00028813	0.00198382	1	0
OR8H1	219469	broad.mit.edu	37	11	56057819	56057819	+	Silent	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:56057819A>G	ENST00000313022.2	-	1	747	c.720T>C	c.(718-720)tgT>tgC	p.C240C		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GATGAGAGGCACAAGTAGACA	0.383000													12	60					0	0	0.000978159	0	0
MC5R	4161	broad.mit.edu	37	18	13826399	13826399	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr18:13826399C>T	ENST00000324750.3	+	1	857	c.635C>T	c.(634-636)gCg>gTg	p.A212V		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	212					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TTCCTCCTGGCGCGGACTCAC	0.612000													23	315					0	0	0.00278032	0	0
SLC46A1	113235	broad.mit.edu	37	17	26731995	26731995	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr17:26731995G>A	ENST00000440501.1	-	2	815	c.720C>T	c.(718-720)acC>acT	p.T240T	SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Silent_p.T240T	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	240					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	TGAAGAGCCGGGTGGACTTTG	0.547000													6	125					0	0	0.00116845	0	0
CA6	765	broad.mit.edu	37	1	9009363	9009363	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:9009363G>A	ENST00000377443.2	+	2	125	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Missense_Mutation_p.A41T|CA6_ENST00000319474.2_Missense_Mutation_p.A41T	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	41					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GCACTACCCCGCCTGTGGGGG	0.597000													10	27					0	0	0.000978159	0	0
MOGS	7841	broad.mit.edu	37	2	74688529	74688529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:74688529C>T	ENST00000233616.4	-	4	2549	c.2387G>A	c.(2386-2388)tGg>tAg	p.W796*	MOGS_ENST00000452063.2_Nonsense_Mutation_p.W690*|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	796					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GTACTGGCGCCATACATTGCC	0.622000													10	80					0	0	0.000442599	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899866	112899866	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:112899866A>T	ENST00000374530.3	+	8	2222	c.2042A>T	c.(2041-2043)gAt>gTt	p.D681V	AKAP2_ENST00000374525.1_Missense_Mutation_p.D539V|AKAP2_ENST00000259318.7_Missense_Mutation_p.D450V|AKAP2_ENST00000555236.1_Missense_Mutation_p.D681V|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.D681V|AKAP2_ENST00000510514.5_Missense_Mutation_p.D681V|AKAP2_ENST00000434623.2_Missense_Mutation_p.D539V	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		450							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GTCAAGGATGATGACCATGGG	0.522000													84	87					0	0	0.000781405	0	0
COL2A1	1280	broad.mit.edu	37	12	48367278	48367278	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:48367278C>T	ENST00000380518.3	-	54	4540	c.4376G>A	c.(4375-4377)cGc>cAc	p.R1459H	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.R1390H	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1459	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GATGGGGAGGCGTGAGGTCTT	0.527000													24	56					0	0	0.00278032	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559121	129559121	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:129559121C>T	ENST00000422113.2	-	9	2925	c.2599G>A	c.(2599-2601)Ggc>Agc	p.G867S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.G405S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	867						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTTCCTGGCCTTTCTTCTTC	0.567000													6	55					0	0	0.00116845	0	0
LIMK1	3984	broad.mit.edu	37	7	73535347	73535347	+	Silent	SNP	C	C	T	rs55722104		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:73535347C>T	ENST00000418310.1	+	15	1941	c.1839C>T	c.(1837-1839)acC>acT	p.T613T	LIMK1_ENST00000336180.2_Silent_p.T583T|LIMK1_ENST00000538333.3_Silent_p.T549T			P53667	LIMK1_HUMAN	LIM domain kinase 1	583					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TCCCCATCACCGTGCGCTGTT	0.662000													41	189					0	0	0.000680045	0	0
CTNNA3	29119	broad.mit.edu	37	10	69407256	69407256	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:69407256G>A	ENST00000433211.1	-	2	190	c.16C>T	c.(16-18)Cca>Tca	p.P6S	CTNNA3_ENST00000545309.1_Missense_Mutation_p.P6S|CTNNA3_ENST00000373744.4_Missense_Mutation_p.P6S	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	6					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AATGTGATTGGTGTTTCAGCT	0.393000													13	105					0	0	0.00244969	0	0
KIAA1468	57614	broad.mit.edu	37	18	59928749	59928749	+	Silent	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr18:59928749A>G	ENST00000256858.6	+	16	2456	c.2208A>G	c.(2206-2208)ggA>ggG	p.G736G	KIAA1468_ENST00000398130.2_Silent_p.G736G			Q9P260	K1468_HUMAN	KIAA1468	736							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTCAGGAAGGAGAACATGGAC	0.393000													9	44					0	0	0.000442599	0	0
TCTE1	202500	broad.mit.edu	37	6	44247948	44247948	+	Silent	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:44247948A>T	ENST00000371505.4	-	5	1598	c.1476T>A	c.(1474-1476)acT>acA	p.T492T	TCTE1_ENST00000371504.1_Silent_p.T189T|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Silent_p.T189T	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	492										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCCATTGGCAGTTATGGTTG	0.577000													22	120					0	0	0.000878237	0	0
MAST3	23031	broad.mit.edu	37	19	18235532	18235532	+	Silent	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:18235532C>T	ENST00000262811.5	+	10	939	c.939C>T	c.(937-939)gaC>gaT	p.D313D		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	313							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TTAAGACTGACCTTCCACAGT	0.617000													4	35					0	0	0.00024832	0	0
PCNXL4	64430	broad.mit.edu	37	14	60582438	60582438	+	Splice_Site	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr14:60582438A>G	ENST00000406854.1	+	5	1913	c.1357_splice	c.e5-1	p.V453_splice	PCNXL4_ENST00000317623.4_Splice_Site_p.V219_splice|PCNXL4_ENST00000404681.2_Splice_Site_p.V453_splice|PCNXL4_ENST00000406949.1_Splice_Site_p.V219_splice					pecanex-like 4 (Drosophila)																		TTGTTTTAGTATCACCTTTTG	0.343000													9	14					0	0	0.000274275	0	0
DIAPH1	1729	broad.mit.edu	37	5	140957813	140957813	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:140957813T>A	ENST00000253811.6	-	11	1282	c.1142A>T	c.(1141-1143)gAt>gTt	p.D381V	DIAPH1_ENST00000518047.1_Missense_Mutation_p.D372V|DIAPH1_ENST00000520569.1_Missense_Mutation_p.D327V|DIAPH1_ENST00000398566.3_Missense_Mutation_p.D372V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.D372V|DIAPH1_ENST00000398557.4_Missense_Mutation_p.D381V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.D381V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.D372V			O60610	DIAP1_HUMAN	diaphanous-related formin 1	381	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAATGTCATCCAGCCGTCC	0.433000													17	67					0	0	0.000566183	0	0
NDST2	8509	broad.mit.edu	37	10	75567972	75567972	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:75567972C>T	ENST00000309979.6	-	3	731	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	NDST2_ENST00000299641.4_Intron			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	59	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CCAGCTGCCCCACCGCTGCTG	0.632000													3	16					0	0	6.4e-05	0	0
HPR	3250	broad.mit.edu	37	16	72110789	72110789	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr16:72110789T>C	ENST00000540303.2	+	5	888	c.856T>C	c.(856-858)Tct>Cct	p.S286P	HPR_ENST00000228226.8_Missense_Mutation_p.S323P|HPR_ENST00000356967.5_Missense_Mutation_p.S286P|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	286	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TGTCGGCATGTCTAAGTACCA	0.567000													7	87					0	0	0.000157383	0	0
RP1	6101	broad.mit.edu	37	8	55533931	55533931	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:55533931G>A	ENST00000220676.1	+	2	553	c.405G>A	c.(403-405)gcG>gcA	p.A135A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	135					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.A135A(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATTAGCGCGCACTCACCGC	0.692000													5	92					0	0	0.00116845	0	0
USP54	159195	broad.mit.edu	37	10	75289616	75289616	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:75289616A>G	ENST00000339859.4	-	14	1982	c.1882T>C	c.(1882-1884)Ttt>Ctt	p.F628L	USP54_ENST00000408019.1_Missense_Mutation_p.F628L|USP54_ENST00000428547.1_Missense_Mutation_p.F478L|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.F628L			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	628					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGTCCACCAAATTTAATGTCG	0.483000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	130					0	0	0.00116845	0	0
FRAS1	80144	broad.mit.edu	37	4	79460498	79460498	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:79460498T>A	ENST00000264895.6	+	73	11789	c.11349T>A	c.(11347-11349)ttT>ttA	p.F3783L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3778					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGTGCCTTTTGAGGCTCACT	0.418000													5	133					0	0	0.000602214	0	0
ZNF229	7772	broad.mit.edu	37	19	44933969	44933969	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:44933969G>A	ENST00000291187.4	-	6	1291	c.969C>T	c.(967-969)ggC>ggT	p.G323G	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.G329G|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TCTGTCTGACGCCCCGACCAC	0.507000													7	77					0	0	0.00198382	0	0
CYP2J2	1573	broad.mit.edu	37	1	60377930	60377930	+	Missense_Mutation	SNP	T	T	C	rs55753213		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:60377930T>C	ENST00000371204.3	-	3	470	c.427A>G	c.(427-429)Aca>Gca	p.T143A	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	143			T -> A (in allele CYP2J2*2; significantly reduced metabolism of both arachidonic acid and linoleic acid; dbSNP:rs55753213).		epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					CTTAGTGCTGTCAGAGTGAAC	0.433000													5	61					0	0	0.00198382	0	0
DDX55	57696	broad.mit.edu	37	12	124099831	124099831	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:124099831T>A	ENST00000238146.4	+	9	974	c.924T>A	c.(922-924)aaT>aaA	p.N308K	DDX55_ENST00000541259.1_3'UTR|DDX55_ENST00000538744.1_Missense_Mutation_p.N308K	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	308	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		ATAAACGCAATAAGATCTTCA	0.493000													9	48					0	0	0.000274275	0	0
CFAP54	144535	broad.mit.edu	37	12	97073479	97073479	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:97073479T>A	ENST00000524981.3	+	7	1018	c.1018T>A	c.(1018-1020)Tca>Aca	p.S340T				Q6ZTY8	CL063_HUMAN		314										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CCATAACAGATCAATCCGACA	0.443000													34	87					0	0	0.000953801	0	0
DPP8	54878	broad.mit.edu	37	15	65759441	65759441	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr15:65759441G>A	ENST00000341861.5	-	13	3285	c.1705C>T	c.(1705-1707)Cgt>Tgt	p.R569C	DPP8_ENST00000321147.6_Missense_Mutation_p.R569C|DPP8_ENST00000300141.6_Missense_Mutation_p.R553C|DPP8_ENST00000321118.7_Missense_Mutation_p.R569C|DPP8_ENST00000559233.1_Missense_Mutation_p.R569C|DPP8_ENST00000358939.4_Missense_Mutation_p.R553C|DPP8_ENST00000339244.5_Missense_Mutation_p.R396C	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	569					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAGTAGCCACGGTCAGTCAGC	0.413000													5	34					0	0	0.000602214	0	0
DCC	1630	broad.mit.edu	37	18	50278466	50278466	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr18:50278466A>C	ENST00000442544.2	+	2	750	c.134A>C	c.(133-135)gAa>gCa	p.E45A		NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	45	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTCCTCTCAGAACCTTCTGAT	0.483000													3	31					0	0	0.00024832	0	0
CDC45	8318	broad.mit.edu	37	22	19471460	19471460	+	Missense_Mutation	SNP	G	G	A	rs61752240	byFrequency	TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:19471460G>A	ENST00000407835.1	+	6	674	c.418G>A	c.(418-420)Gat>Aat	p.D140N	CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_Missense_Mutation_p.D140N|CDC45_ENST00000404724.3_Missense_Mutation_p.D94N|CDC45_ENST00000263201.1_Missense_Mutation_p.D140N			O75419	CDC45_HUMAN	cell division cycle 45	140					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TGAAGAGGAGGATGAAGAGCA	0.433000													7	83					0	0	0.000157383	0	0
KIF25	3834	broad.mit.edu	37	6	168430194	168430194	+	Translation_Start_Site	SNP	C	C	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:168430194C>A	ENST00000443060.2	+	0	320				KIF25_ENST00000515361.1_3'UTR|KIF25_ENST00000354419.2_De_novo_Start_OutOfFrame|KIF25_ENST00000351261.3_De_novo_Start_OutOfFrame			Q9UIL4	KIF25_HUMAN	kinesin family member 25						microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TCCCAGCTGACATGGACCTCA	0.502000													15	28					9.16793e-09	3.39016e-08	0.000566183	1	0
PTCH2	8643	broad.mit.edu	37	1	45293249	45293249	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:45293249C>G	ENST00000447098.2	-	15	2207	c.2196G>C	c.(2194-2196)agG>agC	p.R732S	PTCH2_ENST00000372192.3_Missense_Mutation_p.R732S	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	732					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGGAGAAGTACCTGAGCTGGG	0.637000									Basal Cell Nevus syndrome				9	63					0	0	0.000442599	0	0
TTLL8	164714	broad.mit.edu	37	22	50470327	50470327	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:50470327C>T	ENST00000266182.6	-	11	1494	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	TTLL8_ENST00000440475.1_Missense_Mutation_p.E479K					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TTGCGAGGCTCCACGTGGTCC	0.637000													6	40					0	0	0.00116845	0	0
MAP1B	4131	broad.mit.edu	37	5	71493969	71493969	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:71493969A>G	ENST00000296755.7	+	5	5085	c.4787A>G	c.(4786-4788)cAa>cGa	p.Q1596R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1596						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCTGTTGTGCAAACACCTACC	0.468000													15	94					0	0	0.000422831	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110455268	110455268	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:110455268T>C	ENST00000378402.5	+	36	4591	c.4487T>C	c.(4486-4488)aTt>aCt	p.I1496T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1496					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAGGAGTCATTAATGTTTTA	0.418000										HNSCC(38;0.096)			36	210					0	0	0.00111076	0	0
KDM5A	5927	broad.mit.edu	37	12	464365	464365	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:464365T>C	ENST00000399788.2	-	7	1191	c.829A>G	c.(829-831)Atg>Gtg	p.M277V	KDM5A_ENST00000382815.4_Missense_Mutation_p.M277V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	277					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTCATTTGCATGTTAAATGCG	0.368000			T	NUP98	AML								10	37					0	0	0.00185496	0	0
TEP1	7011	broad.mit.edu	37	14	20845894	20845894	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr14:20845894A>T	ENST00000262715.5	-	40	5780	c.5740T>A	c.(5740-5742)Tct>Act	p.S1914T	TEP1_ENST00000556935.1_Missense_Mutation_p.S1806T|TEP1_ENST00000545983.1_Missense_Mutation_p.S252T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1914					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGACCCAGAGACCCTGACCAC	0.587000													12	46					0	0	0.000978159	0	0
SLC19A2	10560	broad.mit.edu	37	1	169439294	169439294	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:169439294A>G	ENST00000236137.5	-	3	1174	c.938T>C	c.(937-939)gTg>gCg	p.V313A	SLC19A2_ENST00000367804.3_Missense_Mutation_p.V112A|SLC19A2_ENST00000367802.3_Missense_Mutation_p.V275A	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	313					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					TGTGTAGTTCACAACTTGAAA	0.498000													11	114					0	0	0.00136819	0	0
IFIT3	3437	broad.mit.edu	37	10	91098946	91098946	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:91098946T>C	ENST00000371818.4	+	2	714	c.534T>C	c.(532-534)atT>atC	p.I178I	LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Silent_p.I178I|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	178					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						GACTGGCAATTGCGATGTACC	0.458000													15	91					0	0	0.00074312	0	0
FRYL	285527	broad.mit.edu	37	4	48523117	48523117	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:48523117T>C	ENST00000358350.4	-	55	8241	c.7637A>G	c.(7636-7638)gAg>gGg	p.E2546G	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.E2546G|FRYL_ENST00000537810.1_Missense_Mutation_p.E2546G|FRYL_ENST00000264319.7_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2546					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGTTGGGGTCTCATCCCTGAT	0.502000													7	69					0	0	0.00198382	0	0
OR5M8	219484	broad.mit.edu	37	11	56258800	56258800	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:56258800A>T	ENST00000327216.2	-	1	71	c.47T>A	c.(46-48)cTg>cAg	p.L16Q		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCGACTGGTCAGTCCCAGGAG	0.448000													17	74					0	0	0.000422831	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287503	29287503	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:29287503G>A	ENST00000266943.6	-	3	743	c.374C>T	c.(373-375)gCc>gTc	p.A125V	SLC46A3_ENST00000380814.4_Missense_Mutation_p.A125V	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	125					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GAATGGAAAGGCAAAATAGCA	0.413000													6	22					0	0	0.00116845	0	0
FLG	2312	broad.mit.edu	37	1	152282261	152282261	+	Missense_Mutation	SNP	G	G	T	rs145738429		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:152282261G>T	ENST00000368799.1	-	3	5136	c.5101C>A	c.(5101-5103)Caa>Aaa	p.Q1701K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1701	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)			GATGAATCTTGTCTGCGCCCA	0.562000									Ichthyosis				16	439					6.31663e-08	2.3191e-07	0.000308642	1	0
SMC2	10592	broad.mit.edu	37	9	106891994	106891994	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:106891994T>C	ENST00000286398.7	+	21	3147	c.2859T>C	c.(2857-2859)agT>agC	p.S953S	SMC2_ENST00000374787.3_Silent_p.S953S|SMC2_ENST00000303219.8_Silent_p.S953S|SMC2_ENST00000374793.3_Silent_p.S953S	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	953					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AACCCAATAGTGCCTATGATT	0.378000													5	124					0	0	0.00116845	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474320	78474320	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr15:78474320G>A	ENST00000258873.4	-	8	1267	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D	ACSBG1_ENST00000541759.1_Silent_p.D112D|ACSBG1_ENST00000560817.1_Silent_p.D112D	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	354					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCTTCAGGGCGTCGGGTTCGG	0.607000													22	33					0	0	0.00278032	0	0
GNAT3	346562	broad.mit.edu	37	7	80091818	80091818	+	Splice_Site	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:80091818C>T	ENST00000398291.3	-	6	813	c.720_splice	c.e6+1	p.V240_splice	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	240					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTAGACTTACCACTTCTTCGT	0.398000													14	93					0	0	0.000308642	0	0
ZBTB3	79842	broad.mit.edu	37	11	62521078	62521078	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:62521078T>A	ENST00000394807.3	-	2	334	c.209A>T	c.(208-210)cAg>cTg	p.Q70L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AAGGAAACCCTGGGACCGCTG	0.592000													9	30					0	0	0.000274275	0	0
KRT1	3848	broad.mit.edu	37	12	53069124	53069124	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:53069124G>A	ENST00000252244.3	-	9	1846	c.1788C>T	c.(1786-1788)ggC>ggT	p.G596G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	596	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						cagagctgccgccgccgccgc	0.711000													9	37					0	0	0.000274275	0	0
ROBO1	6091	broad.mit.edu	37	3	78700882	78700882	+	Splice_Site	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:78700882C>T	ENST00000436010.2	-	17	3692	c.2695_splice	c.e17+1	p.V899_splice	ROBO1_ENST00000467549.1_Splice_Site_p.V902_splice|ROBO1_ENST00000495273.1_Splice_Site_p.V902_splice|ROBO1_ENST00000464233.1_Splice_Site_p.V938_splice			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	938					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AAGCTAATACCTTTTCTGATA	0.363000													9	25					0	0	0.000274275	0	0
RASGRP4	115727	broad.mit.edu	37	19	38912750	38912750	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:38912750G>A	ENST00000454404.2	-	2	280	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	RASGRP4_ENST00000587753.1_Missense_Mutation_p.R23W|RASGRP4_ENST00000426920.2_Missense_Mutation_p.R23W|RASGRP4_ENST00000587738.1_Missense_Mutation_p.R23W|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R23W|RASGRP4_ENST00000586305.1_Missense_Mutation_p.R23W|RASGRP4_ENST00000433821.2_Missense_Mutation_p.R23W	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	23					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGCGGGGCCGGCCTCGCCCT	0.627000													20	33					0	0	0.00188189	0	0
GPR133	283383	broad.mit.edu	37	12	131593399	131593399	+	Missense_Mutation	SNP	G	G	A	rs141128784		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:131593399G>A	ENST00000261654.5	+	18	2577	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	GPR133_ENST00000543617.1_Missense_Mutation_p.R192H|GPR133_ENST00000535015.1_Missense_Mutation_p.R705H|GPR133_ENST00000376682.4_Missense_Mutation_p.R359H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	673					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R673H(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGCAAGCACCGTTACTACTat	0.607000													15	68					0	0	0.00244969	0	0
FBN2	2201	broad.mit.edu	37	5	127800510	127800510	+	Missense_Mutation	SNP	G	G	A	rs146941428		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:127800510G>A	ENST00000508053.1	-	12	1707	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	FBN2_ENST00000508989.1_Missense_Mutation_p.R212W|FBN2_ENST00000262464.4_Missense_Mutation_p.R245W			P35556	FBN2_HUMAN	fibrillin 2	245	TB 1.				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.R245W(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)		CCCCACGCCCGTCCAATGGTG	0.607000													6	75					0	0	0.00198382	0	0
FAM118A	55007	broad.mit.edu	37	22	45728337	45728337	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:45728337C>G	ENST00000216214.3	+	7	1517	c.683C>G	c.(682-684)tCc>tGc	p.S228C	FAM118A_ENST00000405548.3_Missense_Mutation_p.S46C|FAM118A_ENST00000441876.2_Missense_Mutation_p.S228C	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	228						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGCACCAAGTCCTTTCTGTTT	0.463000													13	188					0	0	0.00185496	0	0
ROR2	4920	broad.mit.edu	37	9	94486931	94486931	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:94486931G>A	ENST00000375708.3	-	9	2043	c.1845C>T	c.(1843-1845)gaC>gaT	p.D615D	ROR2_ENST00000375715.1_Silent_p.D475D|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	615	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGTGGCCAGGTCCTTGTGAA	0.597000													16	105					0	0	0.000566183	0	0
GPR132	29933	broad.mit.edu	37	14	105517549	105517549	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr14:105517549C>T	ENST00000329797.3	-	4	1836	c.925G>A	c.(925-927)Gtg>Atg	p.V309M	GPR132_ENST00000392585.2_Missense_Mutation_p.V300M|GPR132_ENST00000539291.2_Missense_Mutation_p.V309M	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	309					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GTGGCCAGCACGTAGATAATG	0.577000													34	34					0	0	0.00283554	0	0
HAO1	54363	broad.mit.edu	37	20	7886819	7886819	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr20:7886819C>T	ENST00000378789.3	-	4	754	c.703G>A	c.(703-705)Gca>Aca	p.A235T		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	235	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATGCCCTTTGCAACAATTGGC	0.383000													26	73					0	0	0.000720815	0	0
POU4F2	5458	broad.mit.edu	37	4	147560466	147560466	+	Silent	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:147560466C>T	ENST00000281321.3	+	1	422	c.174C>T	c.(172-174)ggC>ggT	p.G58G	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	58	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					gtggcggcggcggcggcggcg	0.761000													6	8					0	0	0.00198382	0	0
EPHA5	2044	broad.mit.edu	37	4	66270095	66270095	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:66270095C>T	ENST00000273854.3	-	8	2387	c.1787G>A	c.(1786-1788)gGa>gAa	p.G596E	EPHA5_ENST00000354839.4_Missense_Mutation_p.G596E|EPHA5_ENST00000432638.2_Missense_Mutation_p.G433E|EPHA5_ENST00000511294.1_Missense_Mutation_p.G597E	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	596					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTCTTACCTTCCACTGAGGAG	0.483000										TSP Lung(17;0.13)			5	31					0	0	0.000602214	0	0
DNAH9	1770	broad.mit.edu	37	17	11607668	11607668	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr17:11607668A>G	ENST00000262442.3	+	25	5368	c.5300A>G	c.(5299-5301)cAg>cGg	p.Q1767R	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q1767R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1767	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGATTGGCCAGCTCTCCAAG	0.517000													4	68					0	0	0.00024832	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972688	92972688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:92972688G>A	ENST00000523629.1	-	12	2051	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.R496*|RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.R496*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.R533*|RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.R506*|RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.R496*|RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.R544*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.R506*	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	533					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R533R(1)|p.R544R(1)|p.R496R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCACAGTATCGGGCTGTGTTA	0.517000													30	48					0	0	0.001512	0	0
F2R	2149	broad.mit.edu	37	5	76028768	76028768	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:76028768A>G	ENST00000319211.4	+	2	983	c.718A>G	c.(718-720)Aag>Gag	p.K240E		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	240					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TCTGCTCCTCAAGGAGCAAAC	0.562000													3	101					0	0	6.4e-05	0	0
ZNF202	7753	broad.mit.edu	37	11	123597309	123597309	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:123597309T>A	ENST00000336139.4	-	8	1705	c.1343A>T	c.(1342-1344)aAg>aTg	p.K448M	ZNF202_ENST00000529691.1_Missense_Mutation_p.K448M|ZNF202_ENST00000530393.1_Missense_Mutation_p.K448M			O95125	ZN202_HUMAN	zinc finger protein 202	448					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CGCGTTCATCTTGTGAACCTT	0.468000													18	78					0	0	0.000566183	0	0
C6	729	broad.mit.edu	37	5	41159295	41159295	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:41159295T>C	ENST00000263413.3	-	12	2009	c.1745A>G	c.(1744-1746)aAg>aGg	p.K582R	C6_ENST00000337836.5_Missense_Mutation_p.K582R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	582	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCTCGATCTCTTATAAGTAGC	0.507000													85	71					0	0	0.000781405	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927421	92927421	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chrX:92927421G>T	ENST00000373079.3	-	1	1146	c.883C>A	c.(883-885)Ctt>Att	p.L295I	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	295					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GCTCTTTTAAGATCTACACTG	0.433000													32	19					7.16923e-06	2.55902e-05	0.0024448	1	0
OSBP	5007	broad.mit.edu	37	11	59361545	59361545	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:59361545G>T	ENST00000263847.1	-	8	1974	c.1495C>A	c.(1495-1497)Ctt>Att	p.L499I		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	499					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GTCTCCCCAAGCAGTGGGTTG	0.488000													4	28					0.000602214	0.00212012	0.000602214	1	0
NPY2R	4887	broad.mit.edu	37	4	156136041	156136041	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:156136041C>T	ENST00000329476.3	+	2	1439	c.950C>T	c.(949-951)tCc>tTc	p.S317F	NPY2R_ENST00000506608.1_Missense_Mutation_p.S317F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	317					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GCCATGTGCTCCACTTTTGCC	0.527000													34	57					0	0	0.00058488	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033317	95033317	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr14:95033317G>A	ENST00000557004.1	+	3	1081	c.660G>A	c.(658-660)gaG>gaA	p.E220E	SERPINA4_ENST00000555095.1_Silent_p.E220E|SERPINA4_ENST00000298841.5_Silent_p.E220E|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	220					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCCTGTGGGAGAAACCATTCA	0.517000													16	121					0	0	0.000566183	0	0
ZNF300	91975	broad.mit.edu	37	5	150275862	150275862	+	Silent	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:150275862A>G	ENST00000446148.2	-	7	1414	c.987T>C	c.(985-987)gtT>gtC	p.V329V	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Silent_p.V277V|ZNF300_ENST00000274599.5_Silent_p.V313V|ZNF300_ENST00000394226.2_Silent_p.V313V	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTGATGTACAACAAGATGAA	0.388000													12	102					0	0	0.00136819	0	0
CUX1	1523	broad.mit.edu	37	7	101844978	101844978	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:101844978G>A	ENST00000360264.3	+	18	2454	c.2434G>A	c.(2434-2436)Gat>Aat	p.D812N	CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.D745N|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.D643N|CUX1_ENST00000292535.7_Missense_Mutation_p.D801N|CUX1_ENST00000549414.2_Missense_Mutation_p.D779N|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.D699N	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	801					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						GGGAGCAGCCGATTGTGCACA	0.672000													19	23					0	0	0.00074312	0	0
HOMER1	9456	broad.mit.edu	37	5	78752757	78752757	+	Silent	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:78752757A>G	ENST00000334082.6	-	2	1532	c.90T>C	c.(88-90)caT>caC	p.H30H	HOMER1_ENST00000508576.1_Silent_p.H30H|HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000282260.6_Silent_p.H30H	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	30	WH1.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CAGTAACTGCATGCTTGCTGG	0.418000													11	128					0	0	0.00185496	0	0
IDUA	3425	broad.mit.edu	37	4	995285	995285	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:995285T>C	ENST00000453894.1	+	4	470	c.382T>C	c.(382-384)Tgg>Cgg	p.W128R	IDUA_ENST00000247933.4_Missense_Mutation_p.W175R|IDUA_ENST00000514224.1_Missense_Mutation_p.W43R			P35475	IDUA_HUMAN	iduronidase, alpha-L-	175					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TGTTTCCAAGTGGAACTTCGA	0.602000													20	80					0	0	0.00188189	0	0
OMD	4958	broad.mit.edu	37	9	95179448	95179448	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:95179448C>G	ENST00000375550.4	-	2	668	c.393G>C	c.(391-393)aaG>aaC	p.K131N	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	131					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						CATAATCAATCTTTTGAGATT	0.328000			T	USP6	aneurysmal bone cysts								6	109					0	0	0.000157383	0	0
TAOK3	51347	broad.mit.edu	37	12	118610455	118610455	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:118610455T>C	ENST00000392533.3	-	17	2196	c.1706A>G	c.(1705-1707)gAg>gGg	p.E569G	TAOK3_ENST00000537952.1_Missense_Mutation_p.E109G|TAOK3_ENST00000419821.2_Missense_Mutation_p.E569G	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	569					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTATGGTCCTCATTCATTTC	0.418000													3	138					0	0	6.4e-05	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208448	140208448	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:140208448G>A	ENST00000529310.1	+	1	886	c.772G>A	c.(772-774)Gga>Aga	p.G258R	PCDHA6_ENST00000527624.1_Missense_Mutation_p.G258R|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGACAACGGAACAACAGT	0.423000													11	54					0	0	0.000673444	0	0
SI	6476	broad.mit.edu	37	3	164758751	164758751	+	Silent	SNP	T	T	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:164758751T>G	ENST00000264382.3	-	18	2198	c.2136A>C	c.(2134-2136)acA>acC	p.T712T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	712	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCTTGCTACTGTTTCTCCAA	0.338000										HNSCC(35;0.089)			6	129					0	0	0.000157383	0	0
SLC19A3	80704	broad.mit.edu	37	2	228552279	228552279	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:228552279T>C	ENST00000258403.3	-	6	1396	c.1325A>G	c.(1324-1326)tAt>tGt	p.Y442C	SLC19A3_ENST00000541617.1_Missense_Mutation_p.Y438C|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	442					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ATAGCTCCCATAAACTAAAAA	0.348000													9	31					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179404536	179404536	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:179404536T>C	ENST00000589042.1	-	352	98480	c.98256A>G	c.(98254-98256)gcA>gcG	p.A32752A	TTN_ENST00000460472.2_Silent_p.A23687A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Silent_p.A31111A|TTN_ENST00000342175.6_Silent_p.A23879A|TTN_ENST00000359218.5_Silent_p.A23812A|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.A30184A|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31111	Ig-like 145.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGATGTTGCAATCATGG	0.443000													4	72					0	0	0.00024832	0	0
ATP5G2	517	broad.mit.edu	37	12	54063126	54063126	+	Splice_Site	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:54063126C>T	ENST00000338662.5	-	4	1371		c.e4-1		ATP5G2_ENST00000549164.1_Splice_Site|ATP5G2_ENST00000602871.1_Splice_Site|ATP5G2_ENST00000394349.3_Splice_Site	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)						ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TGCTGAGGCTCTGTGAAAAAG	0.473000													3	22					0	0	6.4e-05	0	0
C10orf120	399814	broad.mit.edu	37	10	124459210	124459210	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:124459210T>C	ENST00000329446.4	-	1	128	c.97A>G	c.(97-99)Ata>Gta	p.I33V		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	33										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTATTAAATATTCTAACTGGC	0.433000													15	58					0	0	0.000308642	0	0
FOXO1	2308	broad.mit.edu	37	13	41133857	41133857	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:41133857C>T	ENST00000379561.5	-	2	2155	c.1771G>A	c.(1771-1773)Ggc>Agc	p.G591S		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	591					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TGGAGAAGGCCCATTCTGCCA	0.547000													22	71					0	0	0.00188189	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151121855	151121855	+	Splice_Site	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:151121855G>A	ENST00000367328.1	+	7	942	c.629_splice	c.e7-1	p.R210_splice	PLEKHG1_ENST00000358517.2_Splice_Site_p.R210_splice	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	210	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTTCCTGCAGGTCCGTGGCTG	0.428000													6	55					0	0	0.00116845	0	0
TCTN1	79600	broad.mit.edu	37	12	111078916	111078916	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:111078916G>C	ENST00000551590.1	+	9	1222	c.1066G>C	c.(1066-1068)Gtc>Ctc	p.V356L	TCTN1_ENST00000397659.4_Missense_Mutation_p.V356L|TCTN1_ENST00000397655.3_Missense_Mutation_p.V342L|TCTN1_ENST00000377654.3_Missense_Mutation_p.V178L|HVCN1_ENST00000548312.1_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	356					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						CAGCGTAGTGGTCCCACTGCA	0.378000													16	56					0	0	0.000566183	0	0
CDC45	8318	broad.mit.edu	37	22	19467525	19467525	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr22:19467525G>A	ENST00000407835.1	+	2	290	c.34G>A	c.(34-36)Gag>Aag	p.E12K	CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_Missense_Mutation_p.E12K|CDC45_ENST00000404724.3_Missense_Mutation_p.E12K|CDC45_ENST00000263201.1_Missense_Mutation_p.E12K			O75419	CDC45_HUMAN	cell division cycle 45	12					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						AGAGTTCTACGAGGTGGTCCA	0.692000													6	149					0	0	0.000157383	0	0
KCTD3	51133	broad.mit.edu	37	1	215777531	215777531	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:215777531T>G	ENST00000259154.4	+	13	1490	c.1196T>G	c.(1195-1197)gTg>gGg	p.V399G		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	399						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GCAGTACGAGTGATTGTACAA	0.453000													5	68					0	0	0.000602214	0	0
ZNF227	7770	broad.mit.edu	37	19	44739552	44739552	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:44739552T>C	ENST00000313040.7	+	6	1174	c.969T>C	c.(967-969)tcT>tcC	p.S323S	ZNF227_ENST00000391961.2_Silent_p.S272S|ZNF227_ENST00000589005.1_Silent_p.S272S	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GAGAGAAGTCTTATAGATGCG	0.403000													7	72					0	0	0.000157383	0	0
PTPRO	5800	broad.mit.edu	37	12	15733638	15733638	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:15733638A>G	ENST00000281171.4	+	22	3335	c.3005A>G	c.(3004-3006)aAc>aGc	p.N1002S	PTPRO_ENST00000544244.1_Missense_Mutation_p.N163S|PTPRO_ENST00000542557.1_Missense_Mutation_p.N163S|PTPRO_ENST00000348962.2_Missense_Mutation_p.N974S|PTPRO_ENST00000442921.2_Missense_Mutation_p.N191S|PTPRO_ENST00000445537.2_Missense_Mutation_p.N191S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1002	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CAGGGATACAACTCACCCCAG	0.438000													10	30					0	0	0.000673444	0	0
GPR3	2827	broad.mit.edu	37	1	27721213	27721213	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:27721213T>C	ENST00000374024.3	+	2	1010	c.911T>C	c.(910-912)gTg>gCg	p.V304A		NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	304					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		AACCAGGATGTGCAGAAAGTG	0.547000													16	226					0	0	0.000422831	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361565	105361565	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:105361565A>T	ENST00000297581.2	+	2	834	c.785A>T	c.(784-786)cAg>cTg	p.Q262L	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.Q262L|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	262					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AGACATCAACAGAGGCCCTGT	0.468000													13	93					0	0	0.00136819	0	0
DNAH5	1767	broad.mit.edu	37	5	13841092	13841092	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:13841092G>A	ENST00000265104.4	-	34	5736	c.5632C>T	c.(5632-5634)Ctg>Ttg	p.L1878L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1878	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTGGAACTCAGATCCCTCGTG	0.398000									Kartagener syndrome				14	194					0	0	0.000422831	0	0
CYTH3	9265	broad.mit.edu	37	7	6213353	6213353	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr7:6213353T>C	ENST00000350796.3	-	6	516	c.380A>G	c.(379-381)aAt>aGt	p.N127S		NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	127	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AACTTTAATATTAAATTCATC	0.358000													21	30					0	0	0.00229938	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148679114	148679114	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:148679114T>A	ENST00000296721.4	+	2	157	c.59T>A	c.(58-60)cTc>cAc	p.L20H	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.L20H|AFAP1L1_ENST00000522492.1_3'UTR	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	20							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCAGCCTCCTGGACCAC	0.642000													8	35					0	0	0.000274275	0	0
PDCD1	5133	broad.mit.edu	37	2	242793393	242793393	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr2:242793393G>A	ENST00000334409.5	-	5	753	c.684C>T	c.(682-684)ttC>ttT	p.F228F		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	228					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		CTCGCCACTGGAAATCCAGCT	0.622000													11	40					0	0	0.00136819	0	0
RYR2	6262	broad.mit.edu	37	1	237993897	237993897	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:237993897A>G	ENST00000366574.2	+	103	15040	c.14723A>G	c.(14722-14724)cAc>cGc	p.H4908R	RYR2_ENST00000542537.1_Missense_Mutation_p.H4892R|RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.H4914R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4908					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGAAACCCACACTTTACAG	0.463000													13	134					0	0	0.00185496	0	0
PPFIA3	8541	broad.mit.edu	37	19	49643025	49643025	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:49643025G>C	ENST00000334186.4	+	17	2526	c.2177G>C	c.(2176-2178)aGa>aCa	p.R726T	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R726T	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	726						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CGTCTTGAGAGAATGACCCAG	0.652000													3	57					0	0	6.4e-05	0	0
ADCY8	114	broad.mit.edu	37	8	131880107	131880107	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:131880107A>G	ENST00000286355.5	-	9	4287	c.2195T>C	c.(2194-2196)tTg>tCg	p.L732S	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	732					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGAAGGAAGCAAACTTTGTAT	0.343000										HNSCC(32;0.087)			5	44					0	0	0.00116845	0	0
DIS3	22894	broad.mit.edu	37	13	73337680	73337680	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:73337680T>G	ENST00000377767.4	-	16	2136	c.2036A>C	c.(2035-2037)cAt>cCt	p.H679P	DIS3_ENST00000377780.4_Missense_Mutation_p.H649P|DIS3_ENST00000545453.1_Missense_Mutation_p.H517P	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	679					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AAATTCCTCATGAATTTTTTT	0.368000										Multiple Myeloma(4;0.011)			6	32					0	0	0.00198382	0	0
SCN11A	11280	broad.mit.edu	37	3	38936227	38936227	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:38936227T>C	ENST00000450244.1	-	15	2830	c.2632A>G	c.(2632-2634)Aaa>Gaa	p.K878E	SCN11A_ENST00000302328.3_Missense_Mutation_p.K878E|SCN11A_ENST00000444237.2_Missense_Mutation_p.K878E|SCN11A_ENST00000456224.3_Missense_Mutation_p.K878E			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	878					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGATGTCTTTGCTTTGTGCA	0.502000													14	83					0	0	0.00185496	0	0
IBTK	25998	broad.mit.edu	37	6	82950154	82950154	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:82950154T>C	ENST00000306270.7	-	2	599	c.50A>G	c.(49-51)cAt>cGt	p.H17R	IBTK_ENST00000510291.1_Missense_Mutation_p.H17R|IBTK_ENST00000503631.1_Missense_Mutation_p.H17R	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	17					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ATCCAAAGCATGCTTCAGGGA	0.408000													13	130					0	0	0.00244969	0	0
SAE1	10055	broad.mit.edu	37	19	47673077	47673077	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:47673077G>C	ENST00000413379.3	+	6	732	c.630G>C	c.(628-630)aaG>aaC	p.K210N	SAE1_ENST00000598840.1_Missense_Mutation_p.K129N|SAE1_ENST00000392776.3_Missense_Mutation_p.K210N|SAE1_ENST00000270225.7_Missense_Mutation_p.K210N|SAE1_ENST00000540850.1_Missense_Mutation_p.K36N	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	210					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTCCACAGAAGGTGGTCTTCT	0.463000													42	107					0	0	0.00222228	0	0
SPTA1	6708	broad.mit.edu	37	1	158639216	158639216	+	Silent	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:158639216T>C	ENST00000368148.3	-	14	1995	c.1815A>G	c.(1813-1815)gcA>gcG	p.A605A	SPTA1_ENST00000368147.3_Silent_p.A605A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	605					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			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)					CTTCATCATCTGCCAACTTTT	0.403000													16	269					0	0	0.000308642	0	0
SCAND3	114821	broad.mit.edu	37	6	28554347	28554347	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr6:28554347G>A	ENST00000452236.2	-	1	765	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	50					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGACGAGAGAGTTCCCTGGTA	0.507000													35	58					0	0	0.000692331	0	0
WDR70	55100	broad.mit.edu	37	5	37480070	37480070	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:37480070T>C	ENST00000265107.4	+	8	977	c.821T>C	c.(820-822)gTg>gCg	p.V274A	WDR70_ENST00000504564.1_Missense_Mutation_p.V274A|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	274										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGTATATTGTGGACATGGCC	0.338000													4	140					0	0	0.00024832	0	0
MEGF8	1954	broad.mit.edu	37	19	42873017	42873017	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:42873017G>A	ENST00000334370.4	+	36	6938	c.6303G>A	c.(6301-6303)ggG>ggA	p.G2101G	MEGF8_ENST00000251268.6_Silent_p.G2168G	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2168	PSI 6.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGCGTCCGGGGGCCTCCTGGG	0.647000													36	63					0	0	0.00128727	0	0
RYR2	6262	broad.mit.edu	37	1	237659885	237659885	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:237659885T>C	ENST00000366574.2	+	20	2353	c.2036T>C	c.(2035-2037)gTg>gCg	p.V679A	RYR2_ENST00000542537.1_Missense_Mutation_p.V663A|RYR2_ENST00000360064.6_Missense_Mutation_p.V677A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	679	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAATTGATGGTGGACCACACA	0.493000													4	79					0	0	0.00024832	0	0
SLC22A24	283238	broad.mit.edu	37	11	62911082	62911082	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:62911082T>C	ENST00000417740.1	-	1	611	c.170A>G	c.(169-171)gAc>gGc	p.D57G	SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Missense_Mutation_p.D57G	NM_001136506.2	NP_001129978.2			solute carrier family 22, member 24											kidney(1)|stomach(1)	2						AGACACAGTGTCATTGTCCAG	0.517000													5	21					0	0	0.00198382	0	0
C11orf1	64776	broad.mit.edu	37	11	111753218	111753218	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr11:111753218A>G	ENST00000260276.3	+	2	509	c.172A>G	c.(172-174)Acc>Gcc	p.T58A	C11orf1_ENST00000529270.1_Missense_Mutation_p.T98A|C11orf1_ENST00000528125.1_Missense_Mutation_p.T12A|C11orf1_ENST00000530214.1_Missense_Mutation_p.T58A	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	58						nucleus				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		ATGGCGATGCACCACTAATGA	0.468000													6	40					0	0	0.00198382	0	0
COLEC12	81035	broad.mit.edu	37	18	347016	347016	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr18:347016G>A	ENST00000400256.3	-	5	813	c.606C>T	c.(604-606)gtC>gtT	p.V202V		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	202					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGTTCATGATGACCACATTAT	0.507000													5	125					0	0	0.000602214	0	0
PLXDC2	84898	broad.mit.edu	37	10	20568717	20568717	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr10:20568717A>G	ENST00000377252.3	+	14	2400	c.1559A>G	c.(1558-1560)aAa>aGa	p.K520R	PLXDC2_ENST00000377242.3_Missense_Mutation_p.K471R|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	520						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GTTGGAGAGAAAGAAGGCTTT	0.423000													3	44					0	0	6.4e-05	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148800393	148800393	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:148800393G>A	ENST00000336498.3	+	9	1082	c.843G>A	c.(841-843)ccG>ccA	p.P281P		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	281	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GGCCTGCTCCGTTTGGTTCCA	0.388000													9	66					0	0	0.000274275	0	0
TPPP	11076	broad.mit.edu	37	5	665268	665268	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:665268G>A	ENST00000360578.5	-	4	730	c.609C>T	c.(607-609)tcC>tcT	p.S203S	CEP72_ENST00000514507.1_Intron	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	203					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		GCTTGTAGCCGGACACATAGC	0.657000													4	151					0	0	0.000602214	0	0
GPR124	25960	broad.mit.edu	37	8	37699033	37699033	+	Silent	SNP	C	C	T			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr8:37699033C>T	ENST00000315215.7	+	16	2889	c.2526C>T	c.(2524-2526)tcC>tcT	p.S842S	GPR124_ENST00000412232.2_Silent_p.S1059S			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	1059					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGCAGCCTCCGCCCTGGGCC	0.711000													5	28					0	0	0.000602214	0	0
DARC	2532	broad.mit.edu	37	1	159175972	159175972	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr1:159175972C>A	ENST00000537147.1	+	3	1586	c.743C>A	c.(742-744)gCc>gAc	p.A248D	DARC_ENST00000368121.2_Missense_Mutation_p.A250D|DARC_ENST00000368122.2_Missense_Mutation_p.A248D			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	248					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					ATCCTGTGGGCCTGGTTTATT	0.537000													16	134					2.23348e-06	8.14192e-06	0.000422831	1	0
C12orf36	283422	broad.mit.edu	37	12	13526327	13526327	+	Silent	SNP	C	C	T	rs146660868		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:13526327C>T	ENST00000318426.2	-	3	445	c.228G>A	c.(226-228)gcG>gcA	p.A76A	C12orf36_ENST00000527705.2_Silent_p.A76A					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		TGTCTACGAGCGCTCTGACTC	0.473000													12	51					0	0	0.000978159	0	0
ARPP21	10777	broad.mit.edu	37	3	35732405	35732405	+	Silent	SNP	T	T	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:35732405T>A	ENST00000187397.4	+	9	1050	c.594T>A	c.(592-594)ctT>ctA	p.L198L	ARPP21_ENST00000444190.1_Silent_p.L198L|ARPP21_ENST00000337271.5_Silent_p.L198L|ARPP21_ENST00000417925.1_Silent_p.L198L|ARPP21_ENST00000458225.1_Silent_p.L198L	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	198	R3H.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGAGGATGCTTGTCCATCGAG	0.383000													7	54					0	0	0.00198382	0	0
PTGER4	5734	broad.mit.edu	37	5	40681848	40681848	+	Silent	SNP	C	C	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr5:40681848C>G	ENST00000302472.3	+	2	1777	c.753C>G	c.(751-753)ctC>ctG	p.L251L		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	251					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGCCGCGCCTCAGCGACTTTC	0.721000													3	58					0	0	6.4e-05	0	0
ZNF671	79891	broad.mit.edu	37	19	58234695	58234695	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr19:58234695A>G	ENST00000317398.6	-	2	247	c.152T>C	c.(151-153)tTt>tCt	p.F51S	ZNF671_ENST00000596939.1_Intron|ZNF671_ENST00000335820.3_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000594803.1_5'UTR	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACATCCTCAAAGACCACACA	0.453000													33	128					0	0	0.0024448	0	0
ABI3BP	25890	broad.mit.edu	37	3	100489651	100489651	+	Silent	SNP	G	G	A			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:100489651G>A	ENST00000471714.1	-	61	4759	c.4650C>T	c.(4648-4650)acC>acT	p.T1550T	ABI3BP_ENST00000383691.4_Silent_p.T802T|ABI3BP_ENST00000284322.5_Silent_p.T848T			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	848						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACCCTTCCACGGTGACCACAG	0.537000													18	139					0	0	0.00074312	0	0
TIGIT	201633	broad.mit.edu	37	3	114014456	114014456	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr3:114014456delC	ENST00000481065.1	+	3	2942	c.327delC	c.(325-327)atfs	p.I109fs	TIGIT_ENST00000486257.1_Frame_Shift_Del_p.I42fs|TIGIT_ENST00000383671.3_Frame_Shift_Del_p.I42fs			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	42	Ig-like V-type.				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GCTCTATCATCTTACAATGTC	0.522													54	142	---	---	---	---					
SLC4A4	8671	broad.mit.edu	37	4	72215646	72215646	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr4:72215646delA	ENST00000340595.3	+	2	471	c.275delA	c.(274-276)gafs	p.E92fs	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Frame_Shift_Del_p.E136fs|SLC4A4_ENST00000425175.1_Frame_Shift_Del_p.E136fs|SLC4A4_ENST00000512686.1_Frame_Shift_Del_p.E92fs|SLC4A4_ENST00000351898.6_Frame_Shift_Del_p.E136fs	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	136						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AAGTTTGAAGAAAAAGTGGAA	0.438													7	96	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs148674204	byFrequency	TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)ggcfs	p.G1911fs	TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15.				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						GACTGATGCCCGGGGGGGTCGC	0.475													74	103	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49440414	49440415	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr12:49440414_49440415insG	ENST00000301067.7	-	15	4394_4395	c.4395_4396insC	c.(4393-4398)ccagggfs	p.G1466fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.K1193fs*25(1)									CAGCCGCCCTTGGGGACGGTGA	0.559													15	118	---	---	---	---					
KLF5	688	broad.mit.edu	37	13	73636125	73636137	+	Frame_Shift_Del	DEL	TTACCTTACAGTA	TTACCTTACAGTA	-	rs143426593		TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr13:73636125_73636137delTTACCTTACAGTA	ENST00000377687.4	+	2	924_936	c.388_400delTTACCTTACAGTA	c.(388-402)tcfs	p.LPYSI130fs	KLF5_ENST00000539231.1_Frame_Shift_Del_p.LPYSI39fs|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	130					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CACTGAAGGGTTACCTTACAGTATCAACATGAA	0.474													22	166	---	---	---	---					
UNC13C	440279	broad.mit.edu	37	15	54305623	54305623	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr15:54305623delG	ENST00000545554.1	+	1	523	c.523delG	c.(523-525)gcfs	p.G175fs	UNC13C_ENST00000260323.11_Frame_Shift_Del_p.G175fs|UNC13C_ENST00000537900.1_Frame_Shift_Del_p.G175fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	175					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TACTCTACATGGCTTAAAACT	0.473													26	87	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579579	7579579	+	Frame_Shift_Del	DEL	C	C	-	rs1800370	byFrequency	TCGA-CR-7389-01A-11D-2012-08	TCGA-CR-7389-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37149937-8131-4dbf-916b-d599d203eba7	16849673-1fb6-4726-84df-7804bdc10e3f	g.chr17:7579579delC	ENST00000420246.2	-	4	240	c.108delG	c.(106-108)ccfs	p.P36fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.P36fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P36fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P36fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P36fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P36fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	36	Interaction with HRMT1L2.|Transcription activation (acidic).		P -> L (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P36fs*4(3)|p.?(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTGCTTGGGACGGCAAGGGGG	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			76	131	---	---	---	---					
