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
TRIM42	287015	broad.mit.edu	37	3	140406816	140406816	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:140406816A>T	ENST00000286349.3	+	3	1483	c.1292A>T	c.(1291-1293)aAg>aTg	p.K431M		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	431						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCTACTCCAAGGAAGCCCTG	0.502000													7	75					0	0	0.278610	0	0
EIF3B	8662	broad.mit.edu	37	7	2415133	2415133	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:2415133G>A	ENST00000360876.4	+	14	2055	c.1999G>A	c.(1999-2001)Gtc>Atc	p.V667I	EIF3B_ENST00000397011.2_Missense_Mutation_p.V667I	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	667					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GCGCTACGTCGTCACCTCTGT	0.562000													24	84					0	0	0.639603	0	0
MICU3	286097	broad.mit.edu	37	8	16956031	16956031	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:16956031C>T	ENST00000318063.5	+	9	995	c.953C>T	c.(952-954)aCa>aTa	p.T318I		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		AGACGTAACACAAGCCAAGCA	0.383000													53	140					0	0	0.870114	0	0
MED12L	116931	broad.mit.edu	37	3	151105633	151105633	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:151105633G>A	ENST00000474524.1	+	35	5057	c.5019G>A	c.(5017-5019)ccG>ccA	p.P1673P	MED12L_ENST00000273432.4_Silent_p.P1533P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1673					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.P1673L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGTGTCCCCGTGGGACTTGT	0.532000													15	119					0	0	0.500413	0	0
SLC9B2	133308	broad.mit.edu	37	4	103949935	103949935	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:103949935G>C	ENST00000394785.3	-	11	1992	c.1361C>G	c.(1360-1362)tCt>tGt	p.S454C	SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000362026.3_Missense_Mutation_p.S454C|SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000503230.1_Missense_Mutation_p.S397C	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	454					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										CCATGCAAAAGAAATAAATAT	0.363000													9	75					0	0	0.335167	0	0
ITGB5	3693	broad.mit.edu	37	3	124515329	124515329	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:124515329G>A	ENST00000296181.4	-	10	1895	c.1599C>T	c.(1597-1599)tgC>tgT	p.C533C	ITGB5_ENST00000488466.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	533	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CGAAGCAGGAGCACTGGTTGC	0.597000													36	133					0	0	0.804634	0	0
XKR4	114786	broad.mit.edu	37	8	56015674	56015674	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:56015674C>A	ENST00000327381.5	+	1	726	c.626C>A	c.(625-627)cCt>cAt	p.P209H		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	209						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GAGGCTCGTCCTTCCACGCCG	0.692000													22	38					2.89027e-11	3.14887e-11	0.624587	1	0
BIN1	274	broad.mit.edu	37	2	127821184	127821184	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:127821184G>A	ENST00000316724.5	-	9	1148	c.737C>T	c.(736-738)gCg>gTg	p.A246V	BIN1_ENST00000393041.3_Missense_Mutation_p.A215V|BIN1_ENST00000393040.3_Missense_Mutation_p.A215V|BIN1_ENST00000376113.2_Missense_Mutation_p.A215V|BIN1_ENST00000259238.4_Missense_Mutation_p.A215V|BIN1_ENST00000357970.3_Missense_Mutation_p.A246V|BIN1_ENST00000352848.3_Missense_Mutation_p.A215V|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000351659.3_Missense_Mutation_p.A246V|BIN1_ENST00000348750.4_Missense_Mutation_p.A215V|BIN1_ENST00000346226.3_Missense_Mutation_p.A215V|BIN1_ENST00000409400.1_Missense_Mutation_p.A215V	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	246	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTCCAGGCCCGCGATGCTCTG	0.602000													9	28					0	0	0.307466	0	0
FAM135B	51059	broad.mit.edu	37	8	139180196	139180196	+	Silent	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:139180196G>T	ENST00000395297.1	-	12	1370	c.1200C>A	c.(1198-1200)ggC>ggA	p.G400G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	400										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTTCCAATCGCCGTCGATGT	0.552000										HNSCC(54;0.14)			60	159					5.10652e-33	6.04029e-33	0.870114	1	0
PCDHAC1	56135	broad.mit.edu	37	5	140308890	140308890	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:140308890C>A	ENST00000253807.2	+	1	2413	c.2413C>A	c.(2413-2415)Cac>Aac	p.H805N	PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.H805N|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAGGGGATCACGCTAATGT	0.453000													22	162					2.44723e-14	2.78339e-14	0.681144	1	0
CD34	947	broad.mit.edu	37	1	208084367	208084367	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:208084367A>G	ENST00000356522.4	-	1	380	c.59T>C	c.(58-60)cTt>cCt	p.L20P	CD34_ENST00000537704.1_5'UTR|CD34_ENST00000310833.7_Missense_Mutation_p.L20P	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	20					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CAGCAAGCAAAGCGCGGTCCA	0.711000													4	11					0	0	0.150653	0	0
CUL9	23113	broad.mit.edu	37	6	43155036	43155036	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:43155036C>T	ENST00000252050.4	+	6	1524	c.1440C>T	c.(1438-1440)taC>taT	p.Y480Y	CUL9_ENST00000372647.2_Silent_p.Y480Y|CUL9_ENST00000354495.3_Intron	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	480					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTTTGCCGTACCTCCAGCCCG	0.542000													43	219					0	0	0.847076	0	0
EPS15	2060	broad.mit.edu	37	1	51822456	51822456	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:51822456C>G	ENST00000371733.3	-	25	2703	c.2607G>C	c.(2605-2607)caG>caC	p.Q869H	EPS15_ENST00000371730.2_Missense_Mutation_p.Q735H|EPS15_ENST00000396122.4_Missense_Mutation_p.Q546H	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	869					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GGGCAAGCCTCTGCTCTTCCT	0.413000			T	MLL	ALL								32	87					0	0	0.796494	0	0
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr18:14513734C>T	ENST00000358970.5	-	10	1459	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	487								p.G487E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323000													5	109					0	0	0.307466	0	0
FAM179A	165186	broad.mit.edu	37	2	29249763	29249763	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:29249763C>G	ENST00000379558.4	+	14	2249	c.1898C>G	c.(1897-1899)tCa>tGa	p.S633*	FAM179A_ENST00000403861.2_Nonsense_Mutation_p.S578*|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	633							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGCACCTCTCAGCTGTGCTG	0.597000													4	10					0	0	0.217242	0	0
EFS	10278	broad.mit.edu	37	14	23826643	23826643	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr14:23826643C>T	ENST00000216733.3	-	6	2085	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q	EFS_ENST00000351354.3_Missense_Mutation_p.R400Q|EFS_ENST00000429593.2_Missense_Mutation_p.R324Q	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	493					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCTGCCAGCCGGCCCAGGGT	0.657000													19	42					0	0	0.575678	0	0
AJAP1	55966	broad.mit.edu	37	1	4832510	4832510	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:4832510C>T	ENST00000378191.4	+	4	1469	c.1088C>T	c.(1087-1089)gCa>gTa	p.A363V	AJAP1_ENST00000378190.3_Missense_Mutation_p.A363V	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	363	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TGCGTCAGGGCATCTGTGCCC	0.587000													7	52					0	0	0.248553	0	0
ZIC4	84107	broad.mit.edu	37	3	147108849	147108849	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:147108849C>T	ENST00000383075.3	-	4	1385	c.873G>A	c.(871-873)tcG>tcA	p.S291S	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Silent_p.S329S|ZIC4_ENST00000491672.1_Silent_p.S85S|ZIC4_ENST00000525172.2_Silent_p.S341S|ZIC4_ENST00000484399.1_Silent_p.S291S|ZIC4_ENST00000473123.1_Silent_p.S291S	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	291						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGGGCGGCGGCGAGCGCCCGT	0.672000													14	55					0	0	0.557998	0	0
TUFM	7284	broad.mit.edu	37	16	28856350	28856350	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr16:28856350G>A	ENST00000313511.3	-	4	579	c.441C>T	c.(439-441)ctC>ctT	p.L147L		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	144						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.L147L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						TGCAGCCGTCGAGGGGTGCAG	0.542000													18	85					0	0	0.557998	0	0
ZNF672	79894	broad.mit.edu	37	1	249142664	249142664	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:249142664C>T	ENST00000306562.3	+	4	1937	c.1191C>T	c.(1189-1191)tgC>tgT	p.C397C		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAGCGGAGTGCGCAGAGTGCG	0.677000													3	14					0	0	0.150653	0	0
CCDC102B	79839	broad.mit.edu	37	18	66541993	66541993	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr18:66541993G>A	ENST00000360242.5	+	5	1141	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D342N|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D342N|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D342N	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	342										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAACAGCAAAGACAGAGTGAT	0.333000													9	87					0	0	0.361761	0	0
HNRNPL	3191	broad.mit.edu	37	19	39340525	39340525	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:39340525G>C	ENST00000221419.5	-	1	448	c.82C>G	c.(82-84)Cgg>Ggg	p.R28G	HNRNPL_ENST00000600873.1_Intron	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	28					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GCTCCCGACCGCCTCCGCTGC	0.771000													3	1					0	0	0.115264	0	0
NOTCH1	4851	broad.mit.edu	37	9	139402755	139402755	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr9:139402755C>T	ENST00000277541.6	-	20	3329	c.3254G>A	c.(3253-3255)tGc>tAc	p.C1085Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1085	EGF-like 28.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCGCTGGGGCACTCGCAGCG	0.647000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			33	58					0	0	0.779181	0	0
TTN	7273	broad.mit.edu	37	2	179442069	179442069	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:179442069G>A	ENST00000589042.1	-	324	69217	c.68993C>T	c.(68992-68994)tCa>tTa	p.S22998L	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S14058L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S13933L|TTN_ENST00000342992.6_Missense_Mutation_p.S20430L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S21357L|TTN_ENST00000342175.6_Missense_Mutation_p.S14125L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21357	Fibronectin type-III 67.						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)			TGTTGGGGTTGAAGTTATCTG	0.423000													5	76					0	0	0.217242	0	0
SRSF4	6429	broad.mit.edu	37	1	29475408	29475408	+	Silent	SNP	C	C	T	rs145832785		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:29475408C>T	ENST00000373795.4	-	6	1233	c.999G>A	c.(997-999)cgG>cgA	p.R333R	SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	333	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						tgctcctgctccggctccgac	0.647000													3	41					0	0	0.150653	0	0
DMD	1756	broad.mit.edu	37	X	32482777	32482777	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chrX:32482777C>T	ENST00000357033.4	-	24	3408	c.3202G>A	c.(3202-3204)Gat>Aat	p.D1068N	DMD_ENST00000378677.2_Missense_Mutation_p.D1064N	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1068					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGAAAAACATCAACTTCAGCC	0.388000													12	84					0	0	0.500413	0	0
GABRB2	2561	broad.mit.edu	37	5	160973412	160973412	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:160973412C>A	ENST00000274547.2	-	3	302	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	GABRB2_ENST00000353437.6_Missense_Mutation_p.D29Y|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000520240.1_Missense_Mutation_p.D29Y|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000393959.1_Missense_Mutation_p.D29Y	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	29					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTACTAGGGTCATTGACACTA	0.443000													14	48					2.32078e-09	2.48913e-09	0.479597	1	0
ISYNA1	51477	broad.mit.edu	37	19	18546863	18546863	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:18546863G>T	ENST00000545187.1	-	4	790	c.504C>A	c.(502-504)ttC>ttA	p.F168L	ISYNA1_ENST00000457269.3_Missense_Mutation_p.F264L|ISYNA1_ENST00000317018.6_Missense_Mutation_p.F116L|ISYNA1_ENST00000338128.7_Missense_Mutation_p.F318L|ISYNA1_ENST00000578963.1_Missense_Mutation_p.F190L			Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	318					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						AGCCAATGAGGAAGTCCACAA	0.652000													12	35					7.03913e-09	7.4723e-09	0.411799	1	0
FGD4	121512	broad.mit.edu	37	12	32729207	32729207	+	Silent	SNP	A	A	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:32729207A>G	ENST00000534526.2	+	3	592	c.327A>G	c.(325-327)ccA>ccG	p.P109P	FGD4_ENST00000427716.2_5'UTR|FGD4_ENST00000525053.1_Silent_p.P84P|FGD4_ENST00000531134.1_Silent_p.P57P|FGD4_ENST00000546442.1_Intron|FGD4_ENST00000472289.1_5'UTR|FGD4_ENST00000473513.1_3'UTR|FGD4_ENST00000266482.3_5'UTR			Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	66	Actin filament-binding (By similarity).				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CAGTGCCTCCAAAGCCATTAC	0.368000													4	20					0	0	0.150653	0	0
VANGL2	57216	broad.mit.edu	37	1	160394043	160394043	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:160394043A>T	ENST00000368061.2	+	7	1749	c.1275A>T	c.(1273-1275)gaA>gaT	p.E425D		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	425					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCACCTTGAATTCTGCATCA	0.567000													17	42					0	0	0.557998	0	0
FRMD6	122786	broad.mit.edu	37	14	52194513	52194513	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr14:52194513C>T	ENST00000395718.2	+	14	1896	c.1611C>T	c.(1609-1611)ctC>ctT	p.L537L	FRMD6_ENST00000356218.4_Silent_p.L537L|FRMD6_ENST00000553556.1_Silent_p.L187L|FRMD6_ENST00000344768.5_Silent_p.L545L|FRMD6_ENST00000554167.1_Silent_p.L468L	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	545						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GCTTGAGCCTCGATGACATCA	0.453000													10	148					0	0	0.335167	0	0
ZNF319	57567	broad.mit.edu	37	16	58030907	58030907	+	Silent	SNP	G	G	A	rs150126886		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr16:58030907G>A	ENST00000299237.2	-	2	1885	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CGGCCGCGCCGGGCAGGCACT	0.662000													7	55					0	0	0.278610	0	0
LOC647323	647323	broad.mit.edu	37	3	193711321	193711321	+	RNA	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:193711321C>T	ENST00000397645.2	-	0	75				RP11-699L21.2_ENST00000426616.1_lincRNA	NR_033944.1																						TGCTGAGAGACGTCTGCCATG	0.493000													5	42					0	0	0.184627	0	0
COL4A3	1285	broad.mit.edu	37	2	228153932	228153932	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:228153932T>A	ENST00000396578.3	+	35	3110	c.2948T>A	c.(2947-2949)cTc>cAc	p.L983H	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	983	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTAAAGGGCCTCAAAGGACTA	0.413000													3	36					0	0	0.115264	0	0
CACNA1C	775	broad.mit.edu	37	12	2659197	2659197	+	Silent	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:2659197G>T	ENST00000399655.1	+	10	1744	c.1479G>T	c.(1477-1479)ctG>ctT	p.L493L	CACNA1C_ENST00000399606.1_Silent_p.L493L|CACNA1C_ENST00000399634.1_Silent_p.L493L|CACNA1C_ENST00000344100.3_Silent_p.L493L|CACNA1C_ENST00000480911.1_Silent_p.L493L|CACNA1C_ENST00000399603.1_Silent_p.L493L|CACNA1C_ENST00000399638.1_Silent_p.L493L|CACNA1C_ENST00000327702.7_Silent_p.L493L|CACNA1C_ENST00000399641.1_Silent_p.L493L|CACNA1C_ENST00000399637.1_Silent_p.L493L|CACNA1C_ENST00000335762.5_Silent_p.L518L|CACNA1C_ENST00000399629.1_Silent_p.L493L|CACNA1C_ENST00000399601.1_Silent_p.L493L|CACNA1C_ENST00000399649.1_Silent_p.L493L|CACNA1C_ENST00000399591.1_Silent_p.L493L|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399621.1_Silent_p.L493L|CACNA1C_ENST00000347598.4_Silent_p.L493L|CACNA1C_ENST00000402845.3_Silent_p.L493L|CACNA1C_ENST00000399617.1_Silent_p.L493L|CACNA1C_ENST00000399597.1_Silent_p.L493L|CACNA1C_ENST00000406454.3_Silent_p.L493L|CACNA1C_ENST00000399644.1_Silent_p.L493L|CACNA1C_ENST00000399595.1_Silent_p.L493L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	493					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGGCCAGGCTGGCGTGAGTAG	0.592000													9	10					4.68919e-08	4.95236e-08	0.361761	1	0
PCDH17	27253	broad.mit.edu	37	13	58207106	58207106	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr13:58207106G>A	ENST00000377918.3	+	1	452	c.426G>A	c.(424-426)tcG>tcA	p.S142S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	142	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S142S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGGACATCTCGGAGAACGCTG	0.617000													21	24					0	0	0.681144	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	85					0	0	0.184627	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20127356	20127356	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:20127356C>T	ENST00000334554.7	+	4	639	c.498C>T	c.(496-498)ttC>ttT	p.F166F	ZDHHC8_ENST00000405930.3_Silent_p.F166F|ZDHHC8_ENST00000320602.7_Intron|ZDHHC8_ENST00000468112.1_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	166						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	p.F166L(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TCGTGGCCTTCGGCCTGGTCT	0.602000													10	67					0	0	0.335167	0	0
ANKRD26	22852	broad.mit.edu	37	10	27324102	27324102	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr10:27324102C>T	ENST00000376087.4	-	24	3442	c.3277G>A	c.(3277-3279)Ggt>Agt	p.G1093S	ANKRD26_ENST00000376070.3_Missense_Mutation_p.G650S|ANKRD26_ENST00000436985.2_Missense_Mutation_p.G1109S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1092						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CGTTCTAAACCCAAAGTCTTT	0.348000													17	226					0	0	0.520397	0	0
PIAS3	10401	broad.mit.edu	37	1	145581474	145581474	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:145581474C>G	ENST00000393045.2	+	9	1145	c.1055C>G	c.(1054-1056)gCc>gGc	p.A352G	PIAS3_ENST00000369298.1_Missense_Mutation_p.A317G	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	352					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCGATGCTGCCCTTTATCTA	0.517000													23	141					0	0	0.624587	0	0
PSMD2	5708	broad.mit.edu	37	3	184018206	184018206	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:184018206G>C	ENST00000310118.4	+	3	889	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	PSMD2_ENST00000459910.1_3'UTR|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	111					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GGAAATCTATGAGAACATGGC	0.458000													12	117					0	0	0.387290	0	0
PADI3	51702	broad.mit.edu	37	1	17603133	17603133	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:17603133G>T	ENST00000375460.3	+	12	1467	c.1427G>T	c.(1426-1428)aGc>aTc	p.S476I		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	476					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GAGTTTCTGAGCTTTGTCCCT	0.607000													11	124					2.80697e-09	2.99507e-09	0.387290	1	0
SEPT2	4735	broad.mit.edu	37	2	242277151	242277151	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:242277151C>T	ENST00000391973.2	+	7	1068	c.540C>T	c.(538-540)gtC>gtT	p.V180V	SEPT2_ENST00000360051.3_Silent_p.V180V|SEPT2_ENST00000407971.1_Silent_p.V140V|SEPT2_ENST00000402092.2_Silent_p.V180V|SEPT2_ENST00000401990.1_Silent_p.V190V|SEPT2_ENST00000391971.2_Silent_p.V180V	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	180					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TTGTGCCTGTCATTGCAAAAG	0.463000													25	120					0	0	0.667858	0	0
ANKRD17	26057	broad.mit.edu	37	4	73963824	73963824	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:73963824C>G	ENST00000358602.4	-	26	5103	c.4987G>C	c.(4987-4989)Gag>Cag	p.E1663Q	ANKRD17_ENST00000509867.2_Missense_Mutation_p.E1550Q|ANKRD17_ENST00000330838.6_Missense_Mutation_p.E1412Q	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1663	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATTTTCTCTCTTCCTTTGGA	0.363000													16	182					0	0	0.539581	0	0
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)		ATGGCGCGGACGCGGGTGCCG	0.617000		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)			22	63					2.70639e-06	2.81519e-06	0.624587	1	0
TFE3	7030	broad.mit.edu	37	X	48888088	48888088	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chrX:48888088G>A	ENST00000315869.7	-	10	1568	c.1309C>T	c.(1309-1311)Cat>Tat	p.H437Y	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	437					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGCAGGCCATGGATCTGGGCC	0.547000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								10	32					0	0	0.335167	0	0
N4BP2	55728	broad.mit.edu	37	4	40123657	40123657	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:40123657T>C	ENST00000261435.6	+	9	4342	c.3926T>C	c.(3925-3927)cTt>cCt	p.L1309P		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1309						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ACTGATTCTCTTGAAATAAAG	0.259000													3	34					0	0	0.115264	0	0
FCGBP	8857	broad.mit.edu	37	19	40357679	40357679	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:40357679C>G	ENST00000221347.6	-	34	15641	c.15634G>C	c.(15634-15636)Ggc>Cgc	p.G5212R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5212	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTGGGCAGCCAGCTGCCTGG	0.622000													19	72					0	0	0.575678	0	0
PER1	5187	broad.mit.edu	37	17	8049769	8049769	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:8049769G>A	ENST00000317276.4	-	16	2196	c.1959C>T	c.(1957-1959)tcC>tcT	p.S653S	PER1_ENST00000581082.1_Silent_p.S633S|PER1_ENST00000578089.1_5'UTR|PER1_ENST00000354903.5_Silent_p.S637S	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	653	CSNK1E binding domain (By similarity).|Poly-Ser.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGAGGAGGAGGAGGCACATT	0.587000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					41	126					0	0	0.812448	0	0
ITGA3	3675	broad.mit.edu	37	17	48166566	48166566	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:48166566G>A	ENST00000007722.7	+	25	3138	c.3138G>A	c.(3136-3138)ggG>ggA	p.G1046G	ITGA3_ENST00000320031.8_3'UTR			P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	0					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CACCTCCAGGGAGCACCCTGC	0.602000													50	190					0	0	0.870114	0	0
ZNF547	284306	broad.mit.edu	37	19	57889289	57889289	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:57889289G>C	ENST00000282282.3	+	4	1095	c.945G>C	c.(943-945)caG>caC	p.Q315H	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTAGACATCAGAGAGTTCACA	0.413000													17	142					0	0	0.520397	0	0
NCK2	8440	broad.mit.edu	37	2	106497993	106497993	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:106497993G>A	ENST00000233154.4	+	4	878	c.436G>A	c.(436-438)Gac>Aac	p.D146N	NCK2_ENST00000393349.2_Missense_Mutation_p.D146N|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	146	SH3 2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GAAGTGCAGCGACGGTTGGTG	0.637000													23	40					0	0	0.654019	0	0
ZFP82	284406	broad.mit.edu	37	19	36883703	36883703	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:36883703C>T	ENST00000392161.3	-	5	1781	c.1539G>A	c.(1537-1539)aaG>aaA	p.K513K	ZFP82_ENST00000392171.1_Silent_p.K513K	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCCTAAAGGCCTTCTTACATT	0.338000													19	79					0	0	0.575678	0	0
NPTX2	4885	broad.mit.edu	37	7	98248963	98248963	+	Silent	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:98248963C>G	ENST00000265634.3	+	2	600	c.435C>G	c.(433-435)ctC>ctG	p.L145L		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	145					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGCACCAGCTCAGAGCAAACG	0.607000													57	135					0	0	0.870114	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806283	97806283	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:97806283C>T	ENST00000358642.2	+	1	267	c.267C>T	c.(265-267)gaC>gaT	p.D89D		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATTTCTTAGACAAGACTGCAA	0.428000													58	354					0	0	0.870114	0	0
SRPR	6734	broad.mit.edu	37	11	126137475	126137475	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:126137475C>G	ENST00000332118.6	-	3	488	c.334G>C	c.(334-336)Gat>Cat	p.D112H	SRPR_ENST00000532259.1_Missense_Mutation_p.D84H|SRPR_ENST00000530680.1_5'UTR	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	112					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTTTGGAAATCAAAAGTGCCA	0.418000													10	106					0	0	0.335167	0	0
HKR1	284459	broad.mit.edu	37	19	37853704	37853704	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:37853704G>A	ENST00000591471.1	+	9	1829	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	HKR1_ENST00000541583.2_Missense_Mutation_p.R275Q|HKR1_ENST00000589392.1_Missense_Mutation_p.R318Q|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Missense_Mutation_p.R63Q|HKR1_ENST00000392153.3_Missense_Mutation_p.R317Q|HKR1_ENST00000324411.4_Missense_Mutation_p.R336Q			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	336	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATTGTGGACGAGGCTTTACT	0.507000													14	118					0	0	0.435327	0	0
ZNF708	7562	broad.mit.edu	37	19	21476477	21476477	+	Missense_Mutation	SNP	T	T	C	rs149009596		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:21476477T>C	ENST00000356929.3	-	4	1488	c.1291A>G	c.(1291-1293)Ata>Gta	p.I431V		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ATTGAGAATATACTAAAGGCT	0.328000													20	70					0	0	0.592651	0	0
ERBB4	2066	broad.mit.edu	37	2	212589879	212589879	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:212589879G>A	ENST00000342788.4	-	6	973	c.663C>T	c.(661-663)tgC>tgT	p.C221C	ERBB4_ENST00000402597.1_Silent_p.C221C|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Silent_p.C221C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	221	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AAGGTCCGTAGCATCTGCCGT	0.498000										TSP Lung(8;0.080)			30	114					0	0	0.760397	0	0
AKAP6	9472	broad.mit.edu	37	14	33147632	33147632	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr14:33147632A>T	ENST00000280979.4	+	8	3016	c.2846A>T	c.(2845-2847)gAt>gTt	p.D949V	AKAP6_ENST00000557354.1_Missense_Mutation_p.D949V|AKAP6_ENST00000557272.1_Missense_Mutation_p.D949V	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	949					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAGTTTGCTGATATGTCAAAA	0.413000													36	105					0	0	0.812448	0	0
CALCA	796	broad.mit.edu	37	11	14990471	14990471	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:14990471G>A	ENST00000331587.4	-	4	418	c.300C>T	c.(298-300)ttC>ttT	p.F100F	CALCA_ENST00000396372.2_Silent_p.F100F|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000361010.3_Intron|CALCA_ENST00000486207.1_Intron|CALCA_ENST00000359642.3_Silent_p.F100F	NM_001741.2	NP_001732.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	98					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	GAAACTTGTTGAAGTCCTGCG	0.522000													28	136					0	0	0.729181	0	0
ASPM	259266	broad.mit.edu	37	1	197074167	197074167	+	Missense_Mutation	SNP	C	C	T	rs143092798		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:197074167C>T	ENST00000367409.4	-	18	4470	c.4214G>A	c.(4213-4215)cGt>cAt	p.R1405H	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1405	IQ 2.				mitosis	cytoplasm|nucleus	calmodulin binding	p.R1405L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAAATAAGCACGCCAATGCCT	0.313000													25	116					0	0	0.667858	0	0
GCC2	9648	broad.mit.edu	37	2	109085540	109085540	+	Splice_Site	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:109085540G>C	ENST00000309863.6	+	5	1035	c.321_splice	c.e5+1	p.E107_splice		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	107					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAGAGGTTGAGGTAAGTCAAT	0.303000													19	97					0	0	0.557998	0	0
CRYBA4	1413	broad.mit.edu	37	22	27024279	27024279	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:27024279T>A	ENST00000354760.3	+	5	363	c.328T>A	c.(328-330)Ttc>Atc	p.F110I	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	110	Beta/gamma crystallin 'Greek key' 3.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GCTGACAATCTTCGAGCAAGA	0.562000													4	85					0	0	0.150653	0	0
ARNT	405	broad.mit.edu	37	1	150784502	150784502	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:150784502C>T	ENST00000358595.5	-	22	2565	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	ARNT_ENST00000515192.1_Missense_Mutation_p.E775K|ARNT_ENST00000505755.1_Missense_Mutation_p.E774K|ARNT_ENST00000354396.2_Missense_Mutation_p.E787K	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	789					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TAGTTCTATTCTGAAAAGGGG	0.393000			T	ETV6	AML								16	84					0	0	0.520397	0	0
CUL9	23113	broad.mit.edu	37	6	43155037	43155037	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:43155037C>T	ENST00000252050.4	+	6	1525	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	CUL9_ENST00000372647.2_Missense_Mutation_p.L481F|CUL9_ENST00000354495.3_Intron	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	481					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTTGCCGTACCTCCAGCCCGA	0.537000													44	219					0	0	0.859065	0	0
SPIDR	23514	broad.mit.edu	37	8	48309175	48309175	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:48309175G>C	ENST00000297423.4	+	6	1149	c.765G>C	c.(763-765)aaG>aaC	p.K255N	SPIDR_ENST00000518074.1_Missense_Mutation_p.K195N|SPIDR_ENST00000541342.1_Missense_Mutation_p.K185N|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		CAGCAAAGAAGAAGCTTTTAA	0.313000													88	174					0	0	0.870114	0	0
DDX19A	55308	broad.mit.edu	37	16	70398481	70398481	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr16:70398481C>A	ENST00000302243.7	+	6	585	c.422C>A	c.(421-423)aCt>aAt	p.T141N	RP11-529K1.3_ENST00000567706.1_Intron|DDX19A_ENST00000417604.2_Missense_Mutation_p.T110N|DDX19A_ENST00000443119.2_Missense_Mutation_p.T51N	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				CAGTCTGGCACTGGTAAAACA	0.498000													3	81					0.00909568	0.00922944	0.150653	1	0
SEMA5A	9037	broad.mit.edu	37	5	9108255	9108255	+	Silent	SNP	A	A	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:9108255A>G	ENST00000382496.5	-	16	2735	c.2070T>C	c.(2068-2070)aaT>aaC	p.N690N		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	690	TSP type-1 3.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TACTCACCACATTGCAGCCTG	0.542000													13	52					0	0	0.411799	0	0
PEX11A	8800	broad.mit.edu	37	15	90229778	90229778	+	Splice_Site	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:90229778C>G	ENST00000300056.3	-	2	206		c.e2-1		PEX11A_ENST00000561224.1_Splice_Site|PEX11A_ENST00000561257.1_Splice_Site|PEX11A_ENST00000559170.1_Intron|PEX11A_ENST00000557982.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha						cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGAGTGGCTCTGAAATGGAA	0.378000													15	169					0	0	0.479597	0	0
FAM124B	79843	broad.mit.edu	37	2	225266461	225266461	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:225266461C>T	ENST00000389874.3	-	1	250	c.25G>A	c.(25-27)Gcc>Acc	p.A9T	FAM124B_ENST00000409685.3_Missense_Mutation_p.A9T|FAM124B_ENST00000243806.2_Missense_Mutation_p.A9T	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	9							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		ACAGTCATGGCCAGAGGCCCC	0.542000													17	63					0	0	0.557998	0	0
GIPR	2696	broad.mit.edu	37	19	46185005	46185005	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:46185005C>G	ENST00000590918.1	+	14	1312	c.1213C>G	c.(1213-1215)Cgt>Ggt	p.R405G	GIPR_ENST00000263281.3_3'UTR|GIPR_ENST00000304207.8_Missense_Mutation_p.R369G	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	405					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GGAGATCCGCCGTGGCTGGCA	0.776000													7	7					0	0	0.278610	0	0
ELFN2	114794	broad.mit.edu	37	22	37770534	37770534	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:37770534C>T	ENST00000402918.1	-	3	1826	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	ELFN2_ENST00000349653.3_Silent_p.T347T|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	347	Fibronectin type-III.					cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GTTTGTCCAGCGTCACGATCT	0.572000													53	141					0	0	0.870114	0	0
ZYG11B	79699	broad.mit.edu	37	1	53222179	53222179	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:53222179C>T	ENST00000294353.6	+	2	225	c.80C>T	c.(79-81)aCt>aTt	p.T27I	ZYG11B_ENST00000545132.1_Missense_Mutation_p.T27I|ZYG11B_ENST00000443756.2_Missense_Mutation_p.T27I	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	27							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AATTTCTTGACTACTCACCTT	0.453000													17	152					0	0	0.557998	0	0
ZNF544	27300	broad.mit.edu	37	19	58772562	58772562	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:58772562A>G	ENST00000269829.4	+	7	1064	c.590A>G	c.(589-591)aAt>aGt	p.N197S	ZNF544_ENST00000599227.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596652.1_Missense_Mutation_p.N197S|ZNF544_ENST00000600044.1_Missense_Mutation_p.N169S|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.N169S|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600220.1_Missense_Mutation_p.N169S|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.N55S|ZNF544_ENST00000596929.1_Intron	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TTGAAACAAAATTCAGCTTTC	0.383000													17	88					0	0	0.520397	0	0
PHLPP2	23035	broad.mit.edu	37	16	71710374	71710374	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr16:71710374G>A	ENST00000393524.2	-	8	2180	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	PHLPP2_ENST00000360429.3_Missense_Mutation_p.R483W|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R483W|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R483W|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R518W			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	483						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TAGAGGGTCCGAAGGGAAAAG	0.502000													7	51					0	0	0.307466	0	0
ROCK1	6093	broad.mit.edu	37	18	18534783	18534783	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr18:18534783G>T	ENST00000399799.1	-	31	4754	c.3814C>A	c.(3814-3816)Cac>Aac	p.H1272N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1272	Auto-inhibitory.|PH.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTATCTAAGTGATCTCTGTGG	0.393000													11	195					1.15088e-07	1.2093e-07	0.500413	1	0
NLRP3	114548	broad.mit.edu	37	1	247608112	247608112	+	Silent	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:247608112G>C	ENST00000366497.2	+	8	3609	c.2829G>C	c.(2827-2829)ctG>ctC	p.L943L	NLRP3_ENST00000336119.3_Silent_p.L1000L|NLRP3_ENST00000391828.3_Silent_p.L1000L|NLRP3_ENST00000391827.2_Silent_p.L943L|NLRP3_ENST00000366496.2_Silent_p.L943L|NLRP3_ENST00000348069.2_Silent_p.L886L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	1000					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCTGCCTCCTGCAGAACCTGG	0.562000													12	65					0	0	0.387290	0	0
NLRC5	84166	broad.mit.edu	37	16	57088721	57088721	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr16:57088721C>T	ENST00000436936.1	+	25	3790	c.3565C>T	c.(3565-3567)Ctg>Ttg	p.L1189L	NLRC5_ENST00000262510.6_Silent_p.L1189L|NLRC5_ENST00000308149.7_Silent_p.L1189L|NLRC5_ENST00000539144.1_Silent_p.L1189L|RP11-322D14.2_ENST00000562970.1_RNA			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1189					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CACCTTAAGCCTGTGTCCACG	0.577000													99	297					0	0	0.870114	0	0
GRIA2	2891	broad.mit.edu	37	4	158284089	158284089	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:158284089G>T	ENST00000296526.7	+	15	2870	c.2545G>T	c.(2545-2547)Gca>Tca	p.A849S	GRIA2_ENST00000449365.1_Missense_Mutation_p.A802S|GRIA2_ENST00000393815.2_Missense_Mutation_p.A802S|GRIA2_ENST00000264426.9_Missense_Mutation_p.A849S|GRIA2_ENST00000507898.1_Missense_Mutation_p.A802S	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	849					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AATGAAGGTGGCAAAGAATGC	0.433000													24	102					2.89027e-11	3.14887e-11	0.624587	1	0
GJA10	84694	broad.mit.edu	37	6	90605064	90605064	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:90605064C>G	ENST00000369352.1	+	1	877	c.877C>G	c.(877-879)Cga>Gga	p.R293G		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	293					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCAAGTCATTCGAGTTAATGT	0.433000													10	77					0	0	0.387290	0	0
MAGI2	9863	broad.mit.edu	37	7	78130931	78130931	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:78130931T>A	ENST00000354212.4	-	5	1181	c.928A>T	c.(928-930)Atg>Ttg	p.M310L	MAGI2_ENST00000535697.1_Missense_Mutation_p.M147L|MAGI2_ENST00000419488.1_Missense_Mutation_p.M310L|MAGI2_ENST00000536571.1_Missense_Mutation_p.M142L|MAGI2_ENST00000522391.1_Missense_Mutation_p.M310L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	310	Interaction with DDN.|WW 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTATAGGCCATTTCCCAGTTA	0.448000													23	179					0	0	0.639603	0	0
NXPE1	120400	broad.mit.edu	37	11	114392969	114392969	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:114392969G>A	ENST00000536271.1	-	4	1756	c.513C>T	c.(511-513)atC>atT	p.I171I	NXPE1_ENST00000251921.2_Silent_p.I313I|NXPE1_ENST00000424269.1_Silent_p.I455I					neurexophilin and PC-esterase domain family, member 1																		TTTGAACACCGATGGCCCTGC	0.433000													10	89					0	0	0.361761	0	0
GPAT2	150763	broad.mit.edu	37	2	96690176	96690176	+	Splice_Site	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:96690176G>A	ENST00000434632.1	-	16	2127	c.1669_splice	c.e16+1	p.G556_splice	GPAT2_ENST00000359548.4_Splice_Site_p.G556_splice|GPAT2_ENST00000377137.3_Splice_Site_p.G556_splice|GPAT2_ENST00000453542.1_Splice_Site_p.G485_splice			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	556					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						AAGACTCACCGCCCACAGCCT	0.632000													9	61					0	0	0.307466	0	0
FAM211A	388341	broad.mit.edu	37	17	16347302	16347302	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:16347302G>T	ENST00000409083.3	-	3	681	c.519C>A	c.(517-519)caC>caA	p.H173Q	C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|FAM211A_ENST00000470794.1_Missense_Mutation_p.T212K|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA	NM_207387.3	NP_997270.2	Q8NAA5	CQ076_HUMAN	family with sequence similarity 211, member A	319										lung(1)	1						CGTGAGGCCTGTGAAGCCCAG	0.657000													18	55					5.01169e-05	5.1871e-05	0.520397	1	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305733	39305733	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:39305733C>A	ENST00000343246.4	-	1	321	c.287G>T	c.(286-288)tGc>tTc	p.C96F		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	101	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gctggggcagcagcaggtggt	0.662000													14	39					2.35188e-11	2.58957e-11	0.539581	1	0
HDX	139324	broad.mit.edu	37	X	83723928	83723928	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chrX:83723928A>G	ENST00000297977.5	-	3	914	c.803T>C	c.(802-804)tTg>tCg	p.L268S	HDX_ENST00000506585.2_Missense_Mutation_p.L210S|HDX_ENST00000373177.2_Missense_Mutation_p.L268S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GCTAACTGCCAATGAAAACAC	0.453000													51	74					0	0	0.870114	0	0
SMG6	23293	broad.mit.edu	37	17	2203496	2203496	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:2203496C>T	ENST00000544865.1	-	2	968	c.458G>A	c.(457-459)gGa>gAa	p.G153E	SMG6_ENST00000263073.5_Missense_Mutation_p.G184E			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	184	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CGCAACATTTCCCCTACACTC	0.502000													131	582					0	0	0.870114	0	0
TENM4	26011	broad.mit.edu	37	11	78443447	78443447	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:78443447G>A	ENST00000278550.7	-	21	3514	c.3052C>T	c.(3052-3054)Cgc>Tgc	p.R1018C		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GGGTTGGGGCGGGCAAAATTG	0.552000													15	35					0	0	0.500413	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41623203	41623203	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:41623203C>T	ENST00000216237.5	+	14	1856	c.1698C>T	c.(1696-1698)ctC>ctT	p.L566L		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	566					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCGGCTCCTCAGCATCCACT	0.627000													3	28					0	0	0.184627	0	0
OR1G1	8390	broad.mit.edu	37	17	3030782	3030782	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:3030782C>T	ENST00000328890.2	-	1	93	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TTCTGCTCCTCCAGCTGCTCA	0.493000													12	112					0	0	0.387290	0	0
RBCK1	10616	broad.mit.edu	37	20	398254	398254	+	Silent	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr20:398254C>G	ENST00000356286.5	+	3	957	c.252C>G	c.(250-252)ctC>ctG	p.L84L	RBCK1_ENST00000382181.2_5'UTR|RBCK1_ENST00000353660.3_Silent_p.L42L	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	84	Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TGGCGTCTCTCAAGGACATGG	0.602000													4	73					0	0	0.184627	0	0
ZNF264	9422	broad.mit.edu	37	19	57724189	57724189	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:57724189C>A	ENST00000263095.6	+	4	2138	c.1724C>A	c.(1723-1725)cCt>cAt	p.P575H	ZNF264_ENST00000536056.1_Missense_Mutation_p.P575H	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GTGGGAAGACCTTTTACAAGT	0.443000													32	129					1.62565e-12	1.81897e-12	0.760397	1	0
COL4A3	1285	broad.mit.edu	37	2	228153933	228153933	+	Silent	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:228153933C>G	ENST00000396578.3	+	35	3111	c.2949C>G	c.(2947-2949)ctC>ctG	p.L983L	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	983	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TAAAGGGCCTCAAAGGACTAC	0.418000													3	37					0	0	0.115264	0	0
FAT3	120114	broad.mit.edu	37	11	92523277	92523277	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:92523277G>C	ENST00000298047.6	+	7	4521	c.4504G>C	c.(4504-4506)Gac>Cac	p.D1502H	FAT3_ENST00000409404.2_Missense_Mutation_p.D1502H|FAT3_ENST00000525166.1_Missense_Mutation_p.D1352H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1502	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAGCAGCATCGACTCCATCAG	0.507000										TCGA Ovarian(4;0.039)			20	182					0	0	0.639603	0	0
SVIL	6840	broad.mit.edu	37	10	29776096	29776096	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr10:29776096G>A	ENST00000375398.2	-	26	4930	c.4481C>T	c.(4480-4482)gCg>gTg	p.A1494V	SVIL_ENST00000535393.1_Missense_Mutation_p.A408V|SVIL_ENST00000375400.3_Missense_Mutation_p.A1068V|SVIL_ENST00000355867.4_Missense_Mutation_p.A1494V|SVIL_ENST00000538146.1_Missense_Mutation_p.A286V|PTCHD3P1_ENST00000413405.1_RNA			O95425	SVIL_HUMAN	supervillin	1494	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACCAACCTTCGCCTTTTCTAT	0.502000													6	29					0	0	0.217242	0	0
IQSEC3	440073	broad.mit.edu	37	12	247993	247993	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:247993C>T	ENST00000538872.1	+	4	1582	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V	IQSEC3_ENST00000382841.2_Silent_p.V185V|IQSEC3_ENST00000326261.4_Silent_p.V488V|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	488					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TCCGGGACGTCACGGTGCAGA	0.726000													5	19					0	0	0.217242	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335957	42335957	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:42335957C>G	ENST00000262418.6	-	10	1066	c.911G>C	c.(910-912)cGa>cCa	p.R304P	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	304					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGCTCCCCTCGGCTCTGAGC	0.647000													5	27					0	0	0.184627	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642000		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)			21	53					0	0	0.639603	0	0
XKR4	114786	broad.mit.edu	37	8	56015448	56015448	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:56015448G>A	ENST00000327381.5	+	1	500	c.400G>A	c.(400-402)Gtg>Atg	p.V134M		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	134						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTGGCTCGCCGTGGACTACTA	0.662000													7	118					0	0	0.278610	0	0
WRAP53	55135	broad.mit.edu	37	17	7604804	7604804	+	Silent	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:7604804G>T	ENST00000316024.5	+	5	3107	c.759G>T	c.(757-759)ccG>ccT	p.P253P	WRAP53_ENST00000457584.2_Silent_p.P253P|WRAP53_ENST00000431639.2_Silent_p.P253P|WRAP53_ENST00000534050.1_Silent_p.P220P|WRAP53_ENST00000396463.2_Silent_p.P253P			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	253					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GGGAGAACCCGATTCATATCT	0.607000													40	119					3.4345e-17	3.94967e-17	0.859065	1	0
RNF213	57674	broad.mit.edu	37	17	78321813	78321813	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr17:78321813C>T	ENST00000582970.1	+	29	9821	c.9678C>T	c.(9676-9678)tgC>tgT	p.C3226C	RNF213_ENST00000336301.6_Silent_p.C1299C|RNF213_ENST00000508628.2_Silent_p.C3275C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGGACGCCTGCGCGTCTGTGG	0.562000													6	30					0	0	0.248553	0	0
PKNOX2	63876	broad.mit.edu	37	11	125301235	125301235	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:125301235C>T	ENST00000298282.9	+	13	1637	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Nonsense_Mutation_p.Q392*	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	456						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CGACGAGCTGCAGACGACAAA	0.577000													4	41					0	0	0.150653	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182127	57182127	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:57182127C>T	ENST00000504228.1	+	6	2564	c.2459C>T	c.(2458-2460)tCg>tTg	p.S820L	KIAA1211_ENST00000264229.6_Missense_Mutation_p.S820L|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S813L			Q6ZU35	K1211_HUMAN	KIAA1211	820										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ACGACCTCGTCGGACAGCGAG	0.532000													20	98					0	0	0.592651	0	0
FFAR4	338557	broad.mit.edu	37	10	95326706	95326706	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr10:95326706C>A	ENST00000371483.4	+	1	285	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	FFAR4_ENST00000371481.4_Missense_Mutation_p.L77M|FFAR4_ENST00000604414.1_Missense_Mutation_p.L77M	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		GACTGCCTGCCTGGTACTCAA	0.677000													3	43					0.004672	0.00478764	0.115264	1	0
CASP8AP2	9994	broad.mit.edu	37	6	90572083	90572083	+	RNA	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:90572083G>A	ENST00000551025.1	+	0	2092							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TACATCTGTTGAGAAACACTG	0.388000													31	231					0	0	0.750413	0	0
MRPL49	740	broad.mit.edu	37	11	64893285	64893285	+	Silent	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:64893285C>A	ENST00000279242.2	+	4	461	c.442C>A	c.(442-444)Cgg>Agg	p.R148R	MRPL49_ENST00000531705.1_Intron|MRPL49_ENST00000524482.1_3'UTR|MRPL49_ENST00000534078.1_3'UTR	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	148					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|ovary(1)	2						AGGTACCCTACGGATCAAGGG	0.567000													37	140					3.33393e-15	3.81284e-15	0.804634	1	0
SLC9B2	133308	broad.mit.edu	37	4	103949913	103949913	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:103949913G>A	ENST00000394785.3	-	11	2014	c.1383C>T	c.(1381-1383)gcC>gcT	p.A461A	SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000362026.3_Silent_p.A461A|SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000503230.1_Silent_p.A404A	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	461					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										CCTGAACTGTGGCCTTTGGAA	0.338000													10	66					0	0	0.361761	0	0
DNMT3A	1788	broad.mit.edu	37	2	25468890	25468890	+	Splice_Site	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:25468890C>G	ENST00000264709.3	-	12	1810	c.1474_splice	c.e12+1	p.E491_splice	DNMT3A_ENST00000321117.5_Splice_Site_p.E491_splice|DNMT3A_ENST00000380746.4_Splice_Site_p.E302_splice|DNMT3A_ENST00000402667.1_Splice_Site_p.E268_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	491	ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAACTTACCCTCAATGTTCC	0.607000			"""Mis, F, N, S"""		AML								11	79					0	0	0.361761	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169663737	169663737	+	RNA	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:169663737C>A	ENST00000483289.2	-	0	3557				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						ACTTGCTCCTCGTGGAAAACA	0.468000													38	138					1.47244e-24	1.72201e-24	0.819951	1	0
PRAMEF12	390999	broad.mit.edu	37	1	12835290	12835290	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:12835290C>T	ENST00000357726.4	+	1	307	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	94										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGAAGGTTCGCCCCAGGTG	0.592000													34	94					0	0	0.804634	0	0
REG1P	5969	broad.mit.edu	37	2	79364340	79364340	+	RNA	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:79364340C>T	ENST00000444841.1	-	0	285																											ACACTGCTCTCCTCACTCACA	0.547000													4	25					0	0	0.150653	0	0
ITGA2	3673	broad.mit.edu	37	5	52347333	52347333	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:52347333G>A	ENST00000296585.5	+	7	866	c.723G>A	c.(721-723)caG>caA	p.Q241Q		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	241	VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CAACATCCCAGACATCCCAAT	0.373000													43	80					0	0	0.859065	0	0
SLC2A3	6515	broad.mit.edu	37	12	8075605	8075605	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:8075605T>A	ENST00000075120.7	-	9	1324	c.1084A>T	c.(1084-1086)Atg>Ttg	p.M362L		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	362					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		ACAAAGCTCATCCCATTATAG	0.423000													8	40					0	0	0.278610	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844790	18844790	+	RNA	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:18844790C>T	ENST00000412938.1	+	0	3040																											GTGGAGGAGACGTCTCCCATG	0.577000													3	6					0	0	0.150653	0	0
RBPJ	3516	broad.mit.edu	37	4	26422343	26422343	+	Silent	SNP	T	T	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:26422343T>C	ENST00000342320.4	+	5	665	c.489T>C	c.(487-489)gcT>gcC	p.A163A	RBPJ_ENST00000355476.3_Silent_p.A163A|RBPJ_ENST00000342295.1_Silent_p.A177A|RBPJ_ENST00000507561.1_Silent_p.A142A|RBPJ_ENST00000348160.4_Silent_p.A164A|RBPJ_ENST00000345843.3_Silent_p.A162A|RBPJ_ENST00000504907.1_Silent_p.A163A|RBPJ_ENST00000361572.6_Silent_p.A177A			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	177					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TGAAAAATGCTGACTGTATGT	0.353000													43	31					0	0	0.864702	0	0
BRINP3	339479	broad.mit.edu	37	1	190068182	190068182	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:190068182T>A	ENST00000367462.3	-	8	1498	c.1267A>T	c.(1267-1269)Acg>Tcg	p.T423S	FAM5C_ENST00000534846.1_Missense_Mutation_p.T321S|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		423						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CACGAGTGCGTCTCTTCTGAA	0.542000													11	34					0	0	0.361761	0	0
GHRHR	2692	broad.mit.edu	37	7	31008504	31008504	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:31008504A>G	ENST00000326139.2	+	2	159	c.113A>G	c.(112-114)gAg>gGg	p.E38G		NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	38					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	AGAGAGGATGAGAGTGCCTGT	0.537000													11	51					0	0	0.387290	0	0
CNTN5	53942	broad.mit.edu	37	11	99690441	99690441	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:99690441G>A	ENST00000524871.1	+	4	512	c.222G>A	c.(220-222)caG>caA	p.Q74Q	CNTN5_ENST00000279463.3_Silent_p.Q74Q|CNTN5_ENST00000527185.1_Silent_p.Q74Q|CNTN5_ENST00000528682.1_Silent_p.Q74Q|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	74					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGGCAGCTCAGAATTATTATT	0.443000													3	28					0	0	0.115264	0	0
NTRK2	4915	broad.mit.edu	37	9	87339210	87339210	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr9:87339210C>G	ENST00000304053.6	+	8	1275	c.792C>G	c.(790-792)atC>atG	p.I264M	NTRK2_ENST00000376214.1_Missense_Mutation_p.I264M|NTRK2_ENST00000359847.3_Missense_Mutation_p.I264M|NTRK2_ENST00000277120.3_Missense_Mutation_p.I264M|NTRK2_ENST00000323115.4_Missense_Mutation_p.I264M|NTRK2_ENST00000376213.1_Missense_Mutation_p.I264M|NTRK2_ENST00000395882.1_Missense_Mutation_p.I264M|NTRK2_ENST00000376208.1_Missense_Mutation_p.I264M|NTRK2_ENST00000395866.2_Missense_Mutation_p.I108M	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	264	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GGAAGCAGATCTCTTGTGTGG	0.393000										TSP Lung(25;0.17)			12	249					0	0	0.387290	0	0
PIK3R1	5295	broad.mit.edu	37	5	67591278	67591278	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:67591278G>C	ENST00000521381.1	+	14	2392	c.1776G>C	c.(1774-1776)aaG>aaC	p.K592N	PIK3R1_ENST00000320694.8_Missense_Mutation_p.K292N|PIK3R1_ENST00000523872.1_Missense_Mutation_p.K229N|PIK3R1_ENST00000336483.5_Missense_Mutation_p.K322N|PIK3R1_ENST00000396611.1_Missense_Mutation_p.K592N|PIK3R1_ENST00000274335.5_Missense_Mutation_p.K592N|PIK3R1_ENST00000521657.1_Missense_Mutation_p.K592N	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	592					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTCGGCAAAAGAAGTTGAACG	0.363000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			5	73					0	0	0.335167	0	0
OR13G1	441933	broad.mit.edu	37	1	247836069	247836069	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:247836069G>C	ENST00000359688.2	-	1	296	c.275C>G	c.(274-276)gCa>gGa	p.A92G	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATGCAGCCTGCATATGAAAT	0.483000													6	56					0	0	0.248553	0	0
FAT4	79633	broad.mit.edu	37	4	126336921	126336921	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr4:126336921T>C	ENST00000394329.3	+	5	6816	c.6803T>C	c.(6802-6804)gTc>gCc	p.V2268A	FAT4_ENST00000335110.5_Missense_Mutation_p.V566A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2268	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTGTAAATGTCCCTGAGAAT	0.368000													10	81					0	0	0.387290	0	0
UACA	55075	broad.mit.edu	37	15	70960340	70960340	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:70960340G>C	ENST00000322954.6	-	16	2868	c.2683C>G	c.(2683-2685)Cag>Gag	p.Q895E	UACA_ENST00000539319.1_Missense_Mutation_p.Q786E|UACA_ENST00000379983.2_Missense_Mutation_p.Q882E|UACA_ENST00000560441.1_Missense_Mutation_p.Q880E	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	895						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACAAATTCCTGATTTATATCT	0.308000													11	33					0	0	0.361761	0	0
GSDMC	56169	broad.mit.edu	37	8	130789715	130789715	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:130789715C>T	ENST00000276708.4	-	2	1000	c.119G>A	c.(118-120)cGa>cAa	p.R40Q		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	40						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTTCTTCTTTCGTAATATAAC	0.398000													30	174					0	0	0.740014	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111745497	111745497	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr9:111745497C>T	ENST00000374595.4	-	6	907	c.828G>A	c.(826-828)gtG>gtA	p.V276V	CTNNAL1_ENST00000325580.6_Silent_p.V276V|CTNNAL1_ENST00000325551.4_Silent_p.V276V			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	276					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TACAGTCAGTCACAATTTCAA	0.353000													6	64					0	0	0.278610	0	0
HMCES	56941	broad.mit.edu	37	3	129020915	129020915	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:129020915C>G	ENST00000383463.4	+	6	847	c.758C>G	c.(757-759)tCt>tGt	p.S253C	C3orf37_ENST00000502878.2_Missense_Mutation_p.S253C|C3orf37_ENST00000417226.2_Missense_Mutation_p.S211C|C3orf37_ENST00000389735.3_Missense_Mutation_p.S253C	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN		253										breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						CATGCAGTCTCTTCTGTGGTG	0.483000													15	205					0	0	0.479597	0	0
HELB	92797	broad.mit.edu	37	12	66696408	66696408	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:66696408C>T	ENST00000247815.4	+	1	84	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	9					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TCCGTACCTGCGCCAACTTCA	0.552000													18	89					0	0	0.575678	0	0
CDH10	1008	broad.mit.edu	37	5	24593422	24593422	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:24593422G>C	ENST00000264463.4	-	2	685	c.178C>G	c.(178-180)Caa>Gaa	p.Q60E	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	60	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q60*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAGAAAAATTGATTCCACATC	0.383000										HNSCC(23;0.051)			6	236					0	0	0.248553	0	0
PIF1	80119	broad.mit.edu	37	15	65114583	65114583	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:65114583C>T	ENST00000268043.4	-	4	793	c.699G>A	c.(697-699)ggG>ggA	p.G233G	PIF1_ENST00000333425.6_Silent_p.G233G|PIF1_ENST00000559239.1_Silent_p.G233G			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	233	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						GATATGACTTCCCTGTTCCTG	0.617000													38	72					0	0	0.819951	0	0
KDM1B	221656	broad.mit.edu	37	6	18207751	18207751	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:18207751C>T	ENST00000388870.2	+	16	2023	c.1782C>T	c.(1780-1782)ctC>ctT	p.L594L	KDM1B_ENST00000297792.5_Silent_p.L362L|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Silent_p.L362L			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	594					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ACATTCAACTCAAATCTCCAG	0.517000													29	70					0	0	0.740014	0	0
SP5	389058	broad.mit.edu	37	2	171573747	171573747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:171573747C>T	ENST00000375281.3	+	2	1192	c.1030C>T	c.(1030-1032)Cag>Tag	p.Q344*		NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						GGACGAGCTGCAGCGGCACCT	0.667000													6	22					0	0	0.217242	0	0
IL1RAP	3556	broad.mit.edu	37	3	190362143	190362143	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:190362143C>T	ENST00000412504.2	+	9	1410	c.1158C>T	c.(1156-1158)gtC>gtT	p.V386V	IL1RAP_ENST00000447382.1_Silent_p.V386V|IL1RAP_ENST00000443369.2_Silent_p.V386V|IL1RAP_ENST00000439062.1_Silent_p.V386V|IL1RAP_ENST00000072516.3_Silent_p.V386V|IL1RAP_ENST00000317757.3_Silent_p.V386V			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	386					inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TAGAGATGGTCCTATTTTACC	0.398000													17	87					0	0	0.557998	0	0
XIRP1	165904	broad.mit.edu	37	3	39227663	39227663	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:39227663C>A	ENST00000340369.3	-	2	3502	c.3274G>T	c.(3274-3276)Ggt>Tgt	p.G1092C	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G1092C	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1092							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTCCGAAGACCGTCCTGGATG	0.602000													15	86					1.02788e-11	1.14393e-11	0.520397	1	0
STAC3	246329	broad.mit.edu	37	12	57640593	57640593	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:57640593C>G	ENST00000332782.2	-	6	798	c.597G>C	c.(595-597)aaG>aaC	p.K199N	STAC3_ENST00000546246.2_Missense_Mutation_p.K13N|STAC3_ENST00000554578.1_Missense_Mutation_p.K160N	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	199					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						TCACATTTTTCTTATCTGCCT	0.498000													23	325					0	0	0.608945	0	0
AMMECR1L	83607	broad.mit.edu	37	2	128631411	128631411	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:128631411T>C	ENST00000272647.5	-	3	658	c.398A>G	c.(397-399)aAt>aGt	p.N133S	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.N133S	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	133	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CTAGGGGTCATTGGTGAATCT	0.507000													21	264					0	0	0.654019	0	0
KIAA1199	57214	broad.mit.edu	37	15	81224351	81224351	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:81224351G>A	ENST00000394685.3	+	22	3183	c.2764G>A	c.(2764-2766)Gtg>Atg	p.V922M	KIAA1199_ENST00000356249.5_Missense_Mutation_p.V922M|KIAA1199_ENST00000220244.3_Missense_Mutation_p.V922M|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	922										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCATAACAACGTGACCGGCAT	0.602000													52	217					0	0	0.870114	0	0
UNC5D	137970	broad.mit.edu	37	8	35608198	35608198	+	Silent	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:35608198C>A	ENST00000287272.2	+	12	1847	c.1827C>A	c.(1825-1827)ctC>ctA	p.L609L	UNC5D_ENST00000453357.2_Silent_p.L673L|UNC5D_ENST00000420357.1_Silent_p.L611L|UNC5D_ENST00000449677.1_Silent_p.L254L|UNC5D_ENST00000404895.2_Silent_p.L678L|UNC5D_ENST00000416672.1_Silent_p.L683L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	678	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCTATGCGCTCACTGGAGAGC	0.498000													45	284					1.97e-11	2.1807e-11	0.853193	1	0
WNK1	65125	broad.mit.edu	37	12	977906	977906	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:977906C>G	ENST00000537687.1	+	9	3657	c.3014C>G	c.(3013-3015)cCt>cGt	p.P1005R	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.P1090R|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.P304R	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAAGAACTGCCTCCTCAATCA	0.473000													7	133					0	0	0.248553	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564499	66564499	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr18:66564499G>T	ENST00000360242.5	+	6	1214	c.1097G>T	c.(1096-1098)aGg>aTg	p.R366M	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.R366M|CCDC102B_ENST00000358653.5_Missense_Mutation_p.R366M|CCDC102B_ENST00000584156.1_Missense_Mutation_p.R366M	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	366										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGGGACAAGAGGGAAATACTT	0.403000													24	105					1.66031e-10	1.79939e-10	0.667858	1	0
RNF168	165918	broad.mit.edu	37	3	196198801	196198801	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr3:196198801C>T	ENST00000318037.3	-	6	2199	c.1605G>A	c.(1603-1605)aaG>aaA	p.K535K		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	535					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		AATTTGGCATCTTTCTTCTAT	0.398000													11	450					0	0	0.387290	0	0
NBEA	26960	broad.mit.edu	37	13	36129126	36129126	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr13:36129126G>A	ENST00000540320.1	+	44	7343	c.6809G>A	c.(6808-6810)aGg>aAg	p.R2270K	NBEA_ENST00000537702.1_Missense_Mutation_p.R63K|NBEA_ENST00000400445.3_Missense_Mutation_p.R2270K|NBEA_ENST00000379939.2_Missense_Mutation_p.R2267K|NBEA_ENST00000310336.4_Missense_Mutation_p.R2270K			Q8NFP9	NBEA_HUMAN	neurobeachin	2270						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)		ATTGCTAGGAGGATATCATTG	0.318000													6	45					0	0	0.217242	0	0
PIK3R1	5295	broad.mit.edu	37	5	67591279	67591279	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:67591279A>T	ENST00000521381.1	+	14	2393	c.1777A>T	c.(1777-1779)Aag>Tag	p.K593*	PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.K293*|PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.K230*|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.K323*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.K593*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.K593*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.K593*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	593					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TCGGCAAAAGAAGTTGAACGA	0.363000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			5	73					0	0	0.335167	0	0
TMEM206	55248	broad.mit.edu	37	1	212560368	212560368	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:212560368G>A	ENST00000261455.4	-	3	345	c.208C>T	c.(208-210)Ctc>Ttc	p.L70F	TMEM206_ENST00000471937.1_5'UTR|TMEM206_ENST00000535273.1_Missense_Mutation_p.L131F	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	70						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		ATGAAGATGAGTAGGACCGAG	0.542000													22	93					0	0	0.750413	0	0
TRIM21	6737	broad.mit.edu	37	11	4409647	4409647	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:4409647C>T	ENST00000254436.7	-	4	730	c.618G>A	c.(616-618)gaG>gaA	p.E206E	TRIM21_ENST00000543625.1_Silent_p.E206E	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	206					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TTCTCAGCTGCTCCCTCTCAT	0.542000													86	204					0	0	0.870114	0	0
HELB	92797	broad.mit.edu	37	12	66696407	66696407	+	Silent	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:66696407G>T	ENST00000247815.4	+	1	83	c.24G>T	c.(22-24)ctG>ctT	p.L8L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	8					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTCCGTACCTGCGCCAACTTC	0.552000													17	91					1.33834e-09	1.44289e-09	0.557998	1	0
SAMD9	54809	broad.mit.edu	37	7	92733477	92733477	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:92733477T>A	ENST00000379958.2	-	3	2203	c.1934A>T	c.(1933-1935)gAa>gTa	p.E645V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	645						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GATATCTTCTTCCTTTTTCAG	0.353000													23	192					0	0	0.624587	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999255	72999255	+	Silent	SNP	G	G	A	rs145239521		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr18:72999255G>A	ENST00000322038.5	+	2	2342	c.1758G>A	c.(1756-1758)ccG>ccA	p.P586P	TSHZ1_ENST00000580243.1_Silent_p.P631P	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	631						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGCCCCCACCGCACAAGAGCA	0.632000													3	60					0	0	0.115264	0	0
FAT3	120114	broad.mit.edu	37	11	92534060	92534060	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:92534060C>T	ENST00000298047.6	+	9	7898	c.7881C>T	c.(7879-7881)ccC>ccT	p.P2627P	FAT3_ENST00000409404.2_Silent_p.P2627P|FAT3_ENST00000525166.1_Silent_p.P2477P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2627	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCATAGATCCCGATGATGGAG	0.498000										TCGA Ovarian(4;0.039)			9	20					0	0	0.361761	0	0
SKIV2L	6499	broad.mit.edu	37	6	31931233	31931233	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:31931233C>T	ENST00000375394.2	+	14	1560	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R290C	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	483						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CACTGTAACCCGCCCCGTGCC	0.562000													21	89					0	0	0.608945	0	0
SPDL1	54908	broad.mit.edu	37	5	169031117	169031117	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:169031117C>G	ENST00000265295.4	+	12	2003	c.1724C>G	c.(1723-1725)tCa>tGa	p.S575*		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		AAAGAAACTTCAAGCAAATTG	0.363000													32	81					0	0	0.729181	0	0
CTSH	1512	broad.mit.edu	37	15	79231500	79231500	+	Silent	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:79231500G>A	ENST00000220166.5	-	2	214	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	35					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TCCATGACTTGAAGTGAAACT	0.368000													9	60					0	0	0.335167	0	0
IL36G	56300	broad.mit.edu	37	2	113737637	113737637	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:113737637G>C	ENST00000259205.4	+	4	281	c.212G>C	c.(211-213)aGa>aCa	p.R71T	IL36G_ENST00000376489.2_Missense_Mutation_p.R36T	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	71					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GAGCAAGGCAGAGGGGATCCC	0.423000													13	93					0	0	0.457914	0	0
MMRN2	79812	broad.mit.edu	37	10	88696664	88696664	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr10:88696664G>A	ENST00000372027.4	-	7	2759	c.2686C>T	c.(2686-2688)Cca>Tca	p.P896S		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	896	C1q.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GTACAGACTGGAGTCCGATGG	0.597000													29	275					0	0	0.740014	0	0
CCDC70	83446	broad.mit.edu	37	13	52439668	52439668	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr13:52439668C>T	ENST00000242819.4	+	2	450	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	52						extracellular region|plasma membrane		p.R52C(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AAAGGCTTTTCGCGAAGAGAT	0.517000													26	173					0	0	0.654019	0	0
TTN	7273	broad.mit.edu	37	2	179411014	179411014	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:179411014C>G	ENST00000589042.1	-	342	95268	c.95044G>C	c.(95044-95046)Gac>Cac	p.D31682H	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22742H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D22617H|TTN_ENST00000342992.6_Missense_Mutation_p.D29114H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D30041H|TTN_ENST00000342175.6_Missense_Mutation_p.D22809H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30041	Fibronectin type-III 130.						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)			TTTCCACTGTCACTTCTGTCA	0.448000													62	234					0	0	0.870114	0	0
ZBTB32	27033	broad.mit.edu	37	19	36207617	36207617	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:36207617C>T	ENST00000392197.2	+	7	1745	c.1427C>T	c.(1426-1428)tCg>tTg	p.S476L	ZBTB32_ENST00000262630.3_Missense_Mutation_p.S476L			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	476					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTCGGCCCTCGACCTCTCCC	0.632000											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	158					0	0	0.624587	0	0
SMARCB1	6598	broad.mit.edu	37	22	24135759	24135759	+	Silent	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:24135759G>T	ENST00000344921.6	+	3	426	c.219G>T	c.(217-219)acG>acT	p.T73T	SMARCB1_ENST00000263121.7_Silent_p.T82T|SMARCB1_ENST00000407422.3_Silent_p.T73T|SMARCB1_ENST00000407082.3_Silent_p.T82T			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	82					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				ACGGATACACGACTCTAGCCA	0.532000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							53	179					1.46156e-29	1.71899e-29	0.870114	1	0
OR2A7	401427	broad.mit.edu	37	7	143956646	143956646	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:143956646G>A	ENST00000493325.1	-	1	169	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					AGCCCAAAGAGGAGCATCTGA	0.527000													10	73					0	0	0.457914	0	0
BIRC6	57448	broad.mit.edu	37	2	32664671	32664671	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:32664671G>T	ENST00000421745.2	+	16	3861	c.3727G>T	c.(3727-3729)Gta>Tta	p.V1243L		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1243					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TATGCGTCCTGTAGTAAGGCT	0.413000													3	65					0.00909568	0.00922944	0.150653	1	0
ZFP91	80829	broad.mit.edu	37	11	58379154	58379154	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:58379154A>T	ENST00000316059.6	+	6	971	c.800A>T	c.(799-801)gAg>gTg	p.E267V	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E267V	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	267	Glu-rich.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				gtggaagtagaggtggaggtg	0.383000													5	35					0	0	0.184627	0	0
CYP26B1	56603	broad.mit.edu	37	2	72361996	72361996	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:72361996C>T	ENST00000001146.2	-	4	958	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	CYP26B1_ENST00000546307.1_Missense_Mutation_p.R177Q|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R61Q	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	252					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAGCTTCTCCCGGATGGCCTT	0.602000													18	70					0	0	0.592651	0	0
MARCH6	10299	broad.mit.edu	37	5	10414543	10414543	+	Splice_Site	SNP	A	A	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr5:10414543A>T	ENST00000274140.5	+	20	2028		c.e20-1		MARCH6_ENST00000503788.1_Splice_Site|MARCH6_ENST00000449913.2_Splice_Site|MARCH6_ENST00000510792.1_Splice_Site	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase						protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTTACTTTGCAGATATTTCTG	0.348000													64	112					0	0	0.870114	0	0
PAXBP1	94104	broad.mit.edu	37	21	34123488	34123488	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr21:34123488C>A	ENST00000331923.4	-	9	1738	c.1549G>T	c.(1549-1551)Gat>Tat	p.D517Y	PAXBP1_ENST00000290178.4_Missense_Mutation_p.D517Y	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		AGTGCCCGATCGCGTCCAAAG	0.463000													35	113					3.76114e-14	4.2544e-14	0.796494	1	0
SLC43A1	8501	broad.mit.edu	37	11	57261527	57261527	+	Silent	SNP	G	G	A	rs146290858	byFrequency	TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:57261527G>A	ENST00000278426.3	-	8	1165	c.810C>T	c.(808-810)gaC>gaT	p.D270D	SLC43A1_ENST00000528450.1_Silent_p.D270D|SLC43A1_ENST00000533515.1_5'UTR	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	270					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CATCCGAACCGTCCTCCAGGC	0.612000											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	58					0	0	0.217242	0	0
BEND2	139105	broad.mit.edu	37	X	18234753	18234753	+	Silent	SNP	T	T	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chrX:18234753T>A	ENST00000380033.4	-	2	258	c.126A>T	c.(124-126)atA>atT	p.I42I	BEND2_ENST00000380030.3_Silent_p.I42I	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	42										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AATCATCTGCTATGTCATTAG	0.418000													26	33					0	0	0.717897	0	0
NEK5	341676	broad.mit.edu	37	13	52660423	52660423	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr13:52660423C>G	ENST00000355568.4	-	16	1608	c.1469G>C	c.(1468-1470)aGa>aCa	p.R490T		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	490							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTCTGGTTCTCTCCCCATCTT	0.363000													17	215					0	0	0.539581	0	0
ODF2L	57489	broad.mit.edu	37	1	86852648	86852648	+	Translation_Start_Site	SNP	T	T	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:86852648T>C	ENST00000394731.1	-	0	409				ODF2L_ENST00000317336.7_Missense_Mutation_p.I21M|ODF2L_ENST00000359242.3_Missense_Mutation_p.I21M|ODF2L_ENST00000486215.1_Missense_Mutation_p.I21M|ODF2L_ENST00000294678.2_Missense_Mutation_p.I21M|ODF2L_ENST00000370567.1_Missense_Mutation_p.I21M|ODF2L_ENST00000370566.3_Missense_Mutation_p.I21M|ODF2L_ENST00000478286.2_Missense_Mutation_p.I21M			Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like							centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CTTTCTCTGATATAGTTTTAA	0.378000													22	131					0	0	0.608945	0	0
DMPK	1760	broad.mit.edu	37	19	46281829	46281829	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr19:46281829G>A	ENST00000600757.1	-	4	1220	c.533C>T	c.(532-534)cCg>cTg	p.P178L	DMPK_ENST00000354227.5_Missense_Mutation_p.P168L|DMPK_ENST00000291270.4_Missense_Mutation_p.P168L|DMPK_ENST00000447742.2_Missense_Mutation_p.P168L|DMPK_ENST00000343373.4_Missense_Mutation_p.P178L|DMPK_ENST00000458663.2_Missense_Mutation_p.P168L			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	178	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CATCTCGGCCGGAATCCGCTC	0.612000													3	66					0	0	0.150653	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21928278	21928278	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr1:21928278C>T	ENST00000542643.2	-	22	1931	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	RAP1GAP_ENST00000374761.2_Silent_p.P548P|RAP1GAP_ENST00000374763.2_Silent_p.P602P|RAP1GAP_ENST00000374765.4_Silent_p.P517P|RAP1GAP_ENST00000290101.4_Silent_p.P581P	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	517					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TCTGACCAGCCGGAGGGCTCT	0.667000													26	41					0	0	0.654019	0	0
B3GALT4	8705	broad.mit.edu	37	6	33245570	33245570	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:33245570G>T	ENST00000451237.1	+	1	654	c.374G>T	c.(373-375)gGg>gTg	p.G125V		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	125					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGTTCCCAGGGGAGTGACCTG	0.672000													44	207					5.20006e-24	6.04726e-24	0.859065	1	0
SEMA7A	8482	broad.mit.edu	37	15	74707066	74707066	+	Silent	SNP	C	C	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr15:74707066C>T	ENST00000261918.4	-	10	1664	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P	SEMA7A_ENST00000542748.1_Silent_p.P207P|SEMA7A_ENST00000543145.2_Silent_p.P358P	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	372	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CTGTGGGTATCGGCTGCTGGT	0.652000													42	117					0	0	0.870114	0	0
SENP1	29843	broad.mit.edu	37	12	48457609	48457609	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:48457609T>A	ENST00000004980.5	-	13	1769	c.1291A>T	c.(1291-1293)Ata>Tta	p.I431L	SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Missense_Mutation_p.I431L|SENP1_ENST00000549595.1_Missense_Mutation_p.I431L|SENP1_ENST00000551330.1_Missense_Mutation_p.I431L|SENP1_ENST00000448372.1_Missense_Mutation_p.I431L			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	431					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				ACATTCTTTATTTCTTTCTCC	0.383000													10	22					0	0	0.335167	0	0
LTN1	26046	broad.mit.edu	37	21	30339459	30339459	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr21:30339459G>T	ENST00000361371.4	-	10	1504	c.1354C>A	c.(1354-1356)Caa>Aaa	p.Q452K	LTN1_ENST00000389195.2_Missense_Mutation_p.Q498K|LTN1_ENST00000389194.2_Missense_Mutation_p.Q498K	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	452							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGCCCATGTTGCAATCCTGGG	0.388000													23	93					2.32416e-17	2.68771e-17	0.624587	1	0
LRP1B	53353	broad.mit.edu	37	2	141533692	141533692	+	Silent	SNP	T	T	C			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:141533692T>C	ENST00000389484.3	-	33	6446	c.5475A>G	c.(5473-5475)aaA>aaG	p.K1825K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1825					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATCATAGACTTTCATATGAA	0.418000										TSP Lung(27;0.18)			42	108					0	0	0.870114	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125284919	125284921	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:125284919_125284921delGCT	ENST00000431078.1	+	10	1896_1898	c.1532_1534delGCT	c.(1531-1536)ggc>g	p.GC511del		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	511	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G511V(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCTTTCCAAGGCTGCATGAGGCT	0.433													12	101	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179600777	179600778	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:179600777_179600778delGA	ENST00000589042.1	-	50	14619_14620	c.14395_14396delTC	c.(14395-14397)cfs	p.S4799fs	TTN_ENST00000591111.1_Frame_Shift_Del_p.S4482fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.S3555fs|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4482	Ig-like 28.						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)			CTTAGGTCTGGAGAGAAAGGTT	0.431													29	92	---	---	---	---					
SATB2	23314	broad.mit.edu	37	2	200213543	200213544	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr2:200213543_200213544insT	ENST00000443023.1	-	6	2341_2342	c.876_877insA	c.(874-879)ccagccfs	p.A293fs	SATB2_ENST00000417098.1_Frame_Shift_Ins_p.A352fs|SATB2_ENST00000457245.1_Frame_Shift_Ins_p.A352fs|SATB2_ENST00000428695.1_Frame_Shift_Ins_p.A234fs|SATB2_ENST00000260926.5_Frame_Shift_Ins_p.A352fs			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	352						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGGTTGGCTCTGGCTTAACTG	0.540													59	181	---	---	---	---					
SENP6	26054	broad.mit.edu	37	6	76412714	76412714	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:76412714delC	ENST00000370014.3	+	19	3261	c.2642delC	c.(2641-2643)tcfs	p.S881fs	SENP6_ENST00000447266.2_Frame_Shift_Del_p.S881fs|SENP6_ENST00000370010.2_Frame_Shift_Del_p.S874fs|SENP6_ENST00000541192.1_Intron	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	881	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GAATCTACATCCCAGAAAGTT	0.328													60	282	---	---	---	---					
LOC105378057	105378057	broad.mit.edu	37	6	151546236	151546238	+	RNA	DEL	TCC	TCC	-	rs66777178	by1000genomes	TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr6:151546236_151546238delTCC	ENST00000415477.1	-	0	66																											ctttctttcttcctttcttcctt	0.404													2	4	---	---	---	---					
AOC1	26	broad.mit.edu	37	7	150553769	150553780	+	In_Frame_Del	DEL	CTCATCGAGATG	CTCATCGAGATG	-			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr7:150553769_150553780delCTCATCGAGATG	ENST00000493429.1	+	4	795_806	c.211_222delCTCATCGAGATG	c.(211-222)del	p.LIEM71del	AOC1_ENST00000416793.2_In_Frame_Del_p.LIEM71del|AOC1_ENST00000467291.1_In_Frame_Del_p.LIEM71del|AOC1_ENST00000360937.4_In_Frame_Del_p.LIEM71del					amine oxidase, copper containing 1																		CACCGTGTTTCTCATCGAGATGCTGCTGCCCA	0.557													14	161	---	---	---	---					
PIWIL2	55124	broad.mit.edu	37	8	22172591	22172591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr8:22172591delC	ENST00000356766.6	+	18	2289	c.2141delC	c.(2140-2142)gcfs	p.A714fs	PIWIL2_ENST00000454009.2_Frame_Shift_Del_p.A714fs|PIWIL2_ENST00000521356.1_Frame_Shift_Del_p.A714fs	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	714	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	p.A714V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CGGAGTGTGGCCCAGAAGATT	0.483													29	89	---	---	---	---					
GPR158	57512	broad.mit.edu	37	10	25464475	25464476	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr10:25464475_25464476insA	ENST00000376351.3	+	1	485_486	c.126_127insA	c.(124-129)ggagccfs	p.A43fs	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	43						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCCCGAAGGGGAAGCCGCACGC	0.688													7	49	---	---	---	---					
SLC16A9	220963	broad.mit.edu	37	10	61413786	61413788	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr10:61413786_61413788delCTT	ENST00000395348.3	-	5	1632_1634	c.996_998delAAG	c.(994-999)agt>ag	p.RS332del	SLC16A9_ENST00000395347.1_In_Frame_Del_p.RS332del	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	332					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CACGTTTGAACTTCTTGCTACAT	0.365													11	99	---	---	---	---					
TCP11L1	55346	broad.mit.edu	37	11	33079527	33079527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr11:33079527delG	ENST00000334274.4	+	5	880	c.480delG	c.(478-480)ttfs	p.L160fs	TCP11L1_ENST00000530171.1_3'UTR|TCP11L1_ENST00000531632.2_Frame_Shift_Del_p.L160fs|TCP11L1_ENST00000432887.1_Frame_Shift_Del_p.L160fs	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	160										kidney(1)|liver(2)|lung(2)|skin(1)	6						CAGAAGTCTTGGATCTGGATC	0.433													12	68	---	---	---	---					
OR6C65	403282	broad.mit.edu	37	12	55794772	55794773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:55794772_55794773insT	ENST00000379665.2	+	1	559_560	c.460_461insT	c.(460-462)tttfs	p.F154fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTTTCTCATTATTTTTCCCCCC	0.436													16	310	---	---	---	---					
RP11-13A1.3	0	broad.mit.edu	37	12	89539187	89539190	+	RNA	DEL	GGAA	GGAA	-	rs71677679		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr12:89539187_89539190delGGAA	ENST00000549278.1	-	0	144																											ATGAaaggagggaaggaaggaagg	0.377													2	4	---	---	---	---					
TRAV19	28664	broad.mit.edu	37	14	22476138	22476141	+	RNA	DEL	AGGT	AGGT	-	rs34929909		TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr14:22476138_22476141delAGGT	ENST00000390447.3	+	0	185_188																											ATGGCTCAGAAGGTAACTCAAGCG	0.412													4	8	---	---	---	---					
FHOD3	80206	broad.mit.edu	37	18	34340605	34340606	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr18:34340605_34340606insA	ENST00000257209.4	+	23	4057_4058	c.3935_3936insA	c.(3934-3936)cagfs	p.Q1312fs	FHOD3_ENST00000445677.1_Frame_Shift_Ins_p.Q1274fs|FHOD3_ENST00000590592.1_Frame_Shift_Ins_p.Q1495fs|FHOD3_ENST00000592128.1_Frame_Shift_Ins_p.Q291fs|FHOD3_ENST00000591635.1_Frame_Shift_Ins_p.Q508fs|FHOD3_ENST00000359247.4_Frame_Shift_Ins_p.Q1295fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1295					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCGGCGCCCCCAAGCCAGCCGC	0.594													7	149	---	---	---	---					
PRDM15	63977	broad.mit.edu	37	21	43221744	43221745	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr21:43221744_43221745insA	ENST00000422911.1	-	25	3353_3354	c.3252_3253insT	c.(3250-3255)ctccacfs	p.H1085fs	PRDM15_ENST00000398548.1_Frame_Shift_Ins_p.H1065fs|PRDM15_ENST00000538201.1_Frame_Shift_Ins_p.H1048fs|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000269844.3_Frame_Shift_Ins_p.H1394fs|PRDM15_ENST00000447207.2_Frame_Shift_Ins_p.H1028fs			P57071	PRD15_HUMAN	PR domain containing 15	1394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TCAGGGGTGGTAAGGTGCCCCA	0.579													15	38	---	---	---	---					
APOL4	80832	broad.mit.edu	37	22	36595382	36595392	+	Frame_Shift_Del	DEL	ACTGTCCAGCC	ACTGTCCAGCC	-			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chr22:36595382_36595392delACTGTCCAGCC	ENST00000405511.1	-	4	488_498	c.66_76delGGCTGGACAGT	c.(64-78)gttcfs	p.VAGQF22fs	APOL4_ENST00000429038.2_Frame_Shift_Del_p.VAGQF22fs|APOL4_ENST00000352371.1_Frame_Shift_Del_p.VAGQF25fs|APOL4_ENST00000332987.1_Frame_Shift_Del_p.VAGQF22fs|APOL4_ENST00000328429.4_Frame_Shift_Del_p.WLDS40fs|APOL4_ENST00000397275.2_Frame_Shift_Del_p.WLDS40fs|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000404685.3_Frame_Shift_Del_p.VAGQF25fs	NM_030643.3	NP_085146.2	Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	25					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						TTACCTTGGAACTGTCCAGCCACTGTCCAGC	0.540													7	75	---	---	---	---					
IL9R	3581	broad.mit.edu	37	X	155231079	155231080	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4729-01A-01D-1434-08	TCGA-CN-4729-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7240e742-9315-4fb8-b6f7-28bfe69410a8	de75d4f6-43b1-473c-9bf3-10a178cc9aa7	g.chrX:155231079_155231080insT	ENST00000369423.2	+	2	89_90	c.51_52insT	c.(49-54)tggcaafs	p.WQ17fs	IL9R_ENST00000424344.3_5'UTR|IL9R_ENST00000244174.5_Intron|IL9R_ENST00000540897.1_Frame_Shift_Ins_p.WQ7fs			Q01113	IL9R_HUMAN	interleukin 9 receptor	0					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGTAACTGCTGCAAGAACGG	0.579													92	274	---	---	---	---