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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TMEM154	201799	broad.mit.edu	37	4	153573855	153573855	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:153573855G>A	uc003imw.2	-	1	521	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F		NM_152680	NP_689893	Q6P9G4	TM154_HUMAN	Homo sapiens transmembrane protein 154 (TMEM154), mRNA.	97						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TATGTTGCAAGGAATACCACG	0.318000														21			18		0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62292755	62292756	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:62292755_62292756CC>TT	uc021wge.1	+	1	377_378	c.207_208CC>TT	c.(205-210)gcccgc>gcTTgc	p.R70C	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.R70C|RTEL1_uc011abd.2_Missense_Mutation_p.R70C|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc002yfv.2_Missense_Mutation_p.R70C|RTEL1_uc011abe.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	70	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCATCTCTGCCCGCAAGATTGC	0.634000														24			15		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393288	164393288	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:164393288G>A	uc003iqp.4	-	0	1760	c.1599C>T	c.(1597-1599)gtC>gtT	p.V533V		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	533						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CGATGACACGGACAGAAATAC	0.493000														73			32		0	0	1	0	0
SPRR2B	6701	broad.mit.edu	37	1	153043216	153043216	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:153043216C>T	uc001fbg.3	-	1	160	c.100G>A	c.(100-102)Gag>Aag	p.E34K	SPRR2A_uc001fbf.3_Intron	NM_001017418	NP_001017418	P35325	SPR2B_HUMAN	Homo sapiens small proline-rich protein 2B (SPRR2B), mRNA.	34	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				keratinization	cornified envelope|cytoplasm				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCAGGGCTCAGGGCACTTC	0.612000														46			56		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70275875	70275875	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr13:70275875C>A	uc001vip.3	-	10	3000	c.2206G>T	c.(2206-2208)Ggg>Tgg	p.G736W	KLHL1_uc010thm.2_Missense_Mutation_p.G675W	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	736					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCTGCTCTCCCAATATTCAAG	0.303000														16			4		0.0293803	0.0293803	1	1	0
MYC	4609	broad.mit.edu	37	8	128750683	128750683	+	Missense_Mutation	SNP	C	T	T	rs121918685		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:128750683C>T	uc022bbe.1	+	1	745	c.175C>T	c.(175-177)Ccg>Tcg	p.P59S	MYC_uc003ysh.1_Missense_Mutation_p.P59S|MYC_uc003ysi.3_Missense_Mutation_p.P74S			P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	59			P -> A (in a Burkitt lymphoma sample).		branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GCTGCCCACCCCGCCCCTGTC	0.677000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			15		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32663547	32663547	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:32663547C>T	uc001mtv.3	-	12	1065	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	CCDC73_uc001mtw.1_Missense_Mutation_p.E331K	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	341								p.H340R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGTGCTTTTTCATGCTCATTT	0.249000														8			13		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56765285	56765285	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:56765285G>A	uc021zba.1	-	2	371	c.351C>T	c.(349-351)atC>atT	p.I117I				Q03001	DYST_HUMAN	RecName: Full=Dystonin; AltName: Full=230 kDa bullous pemphigoid antigen; AltName: Full=230/240 kDa bullous pemphigoid antigen; AltName: Full=Bullous pemphigoid antigen 1;          Short=BPA;          Short=Bullous pemphigoid antigen; AltName: Full=Dystonia musculorum protein; AltName: Full=Hemidesmosomal plaque protein;	7197	Actin-binding.|CH 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCTCTTCTTGATTCTTCGTT	0.468000														132			71		0	0	1	0	0
C3orf27	23434	broad.mit.edu	37	3	128292237	128292237	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:128292237G>A	uc021xdl.1	-	0	336	c.336C>T	c.(334-336)acC>acT	p.T112T	C3orf27_uc003ekq.3_Silent_p.T112T	NM_007354	NP_031380	O15544	GR6_HUMAN	Homo sapiens chromosome 3 open reading frame 27 (C3orf27), mRNA.	112										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		GGGAGGGAGGGGTGAGGAAAG	0.572000														23			13		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41522588	41522589	+	Missense_Mutation	DNP	GG	AA	AA	rs141626689		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:41522588_41522589GG>AA	uc002opr.1	+	8	1339_1340	c.1332_1333GG>AA	c.(1330-1335)gcggaa>gcAAaa	p.E445K	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.E245K	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	445					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.A444A(2)|p.A444E(2)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TCGCCCGTGCGGAATTGTTCCT	0.584000														28			10		0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76162908	76162908	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:76162908A>T	uc001oxl.3	+	2	220	c.77A>T	c.(76-78)gAg>gTg	p.E26V	C11orf30_uc001oxj.3_Missense_Mutation_p.E26V|C11orf30_uc001oxk.3_Missense_Mutation_p.E26V|C11orf30_uc009yuj.1_Missense_Mutation_p.E26V|C11orf30_uc010rsa.1_Missense_Mutation_p.E26V|C11orf30_uc001oxm.3_Missense_Mutation_p.E26V|C11orf30_uc010rsb.2_Missense_Mutation_p.E26V|C11orf30_uc010rsc.2_Missense_Mutation_p.E26V|C11orf30_uc001oxn.3_Missense_Mutation_p.E26V|C11orf30_uc010rsd.2_Missense_Mutation_p.E26V	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	26	ENT.|Interaction with BRCA2.				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TTAGAATTGGAGGCATATGCT	0.338000														21			3		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39634676	39634676	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:39634676G>A	uc003xnj.3	-	10	971	c.896C>T	c.(895-897)cCc>cTc	p.P299L	ADAM2_uc003xnk.3_Missense_Mutation_p.P280L|ADAM2_uc011lck.2_Missense_Mutation_p.P299L|ADAM2_uc003xnl.3_Missense_Mutation_p.P173L	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	299	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TATGGTTCTGGGGTGCTGAGA	0.348000														24			24		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27504601	27504601	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:27504601T>A	uc002dov.2	-	16	2835	c.2795A>T	c.(2794-2796)gAa>gTa	p.E932V	GTF3C1_uc002dou.3_Missense_Mutation_p.E932V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	932						transcription factor TFIIIC complex	DNA binding|protein binding	p.E932D(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTTCAGAAATTCCTCCAGGTT	0.547000														29			13		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121492954	121492954	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:121492954G>A	uc001pxx.3	+	44	6277	c.6148G>A	c.(6148-6150)Gaa>Aaa	p.E2050K	SORL1_uc010rzp.1_Missense_Mutation_p.E896K|SORL1_uc010rzq.1_Missense_Mutation_p.E665K	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2050	Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGCTTTAAAGGAAAAGCATTT	0.343000														10			23		0	0	1	0	0
ANXA13	312	broad.mit.edu	37	8	124710786	124710786	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:124710786A>G	uc003yqt.3	-	4	396	c.323T>C	c.(322-324)gTa>gCa	p.V108A	ANXA13_uc003yqu.3_Missense_Mutation_p.V67A	NM_001003954	NP_001003954	P27216	ANX13_HUMAN	Homo sapiens annexin A13 (ANXA13), transcript variant 2, mRNA.	67			V -> I (in dbSNP:rs6995099).		cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			ACTCTTGAGTACTTCCTCCAG	0.572000														80			19		0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28141911	28141911	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr13:28141911G>A	uc001url.4	-	3	1030	c.721C>T	c.(721-723)Cct>Tct	p.P241S	LNX2_uc001urm.1_Missense_Mutation_p.P241S	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	241	PDZ 1.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		TGAATGTAAGGATTGGACCGA	0.433000														23			15		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125876238	125876238	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:125876238G>A	uc003eim.1	-	3	666	c.476C>T	c.(475-477)aCc>aTc	p.T159I	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.3_5'Flank|ALDH1L1_uc010hsf.1_Missense_Mutation_p.T185I|ALDH1L1_uc003eip.1_Missense_Mutation_p.T68I|ALDH1L1_uc011bkj.1_5'UTR	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	159	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CGTGCTCACGGTGTCGTCCGG	0.627000														52			15		0	0	1	0	0
TTPA	7274	broad.mit.edu	37	8	63976876	63976876	+	Splice_Site	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:63976876C>T	uc003xux.2	-	4	585	c.553_splice	c.e4-1	p.D185_splice		NM_000370	NP_000361	P49638	TTPA_HUMAN	Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA.	185	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GAAATGAATCCTTTTGAAAAT	0.294000														7			8		0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31705658	31705658	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:31705658C>T	uc021wuu.1	-	10	2834	c.2163G>A	c.(2161-2163)aaG>aaA	p.K721K	OSBPL10_uc003ceu.1_Silent_p.K478K|OSBPL10_uc011axf.2_Silent_p.K657K	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	721					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CCAGGTGCCGCTTCTGCTCGG	0.607000														39			66		0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801205	9801205	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:9801205C>T	uc021uop.1	-	5	1620	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	ZNF812_uc010xkx.2_Missense_Mutation_p.R221Q	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGTGTGATTTCGTATGTGTAT	0.418000														33			10		0	0	1	0	0
RPL13A	23521	broad.mit.edu	37	19	49993751	49993752	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:49993751_49993752CC>TT	uc002pny.3	+	3	196_197	c.174_175CC>TT	c.(172-177)ctccgc>ctTTgc	p.R59C	RPL13A_uc002pnz.3_5'UTR|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	Homo sapiens ribosomal protein L13a (RPL13A), mRNA.	59					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		TGGCTTTCCTCCGCAAGCGGAT	0.634000														20			14		0	0	1	0	0
RPL7	6129	broad.mit.edu	37	8	74204012	74204012	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:74204012A>T	uc003xzg.3	-	3	446	c.424T>A	c.(424-426)Tgg>Agg	p.W142R	RDH10_uc003xzi.3_5'Flank	NM_000971	NP_000962	P18124	RL7_HUMAN	Homo sapiens ribosomal protein L7 (RPL7), mRNA.	142					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			ACTTACCCCCATGCAATATAT	0.368000														38			39		0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18846088	18846088	+	RNA	SNP	A	G	G	rs9605845		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr22:18846088A>G	uc002zoe.3	+	4		c.2450A>G			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		CACCTCCTCCATGCCTCGGCG	0.627000														18			14		0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47746167	47746167	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:47746167G>A	uc009ylv.3	-	12	2325	c.2172C>T	c.(2170-2172)ccC>ccT	p.P724P	FNBP4_uc001ngj.3_Silent_p.P631P|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	724	Pro-rich.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						gtggaggagggggtggaggtg	0.577000														36			8		0	0	1	0	0
CANX	821	broad.mit.edu	37	5	179147437	179147437	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:179147437C>T	uc011dgp.2	+	9	1238	c.1163C>T	c.(1162-1164)cCt>cTt	p.P388L	CANX_uc010jlb.1_Missense_Mutation_p.P289L|CANX_uc003mkk.3_Missense_Mutation_p.P353L|CANX_uc003mkl.3_Missense_Mutation_p.P353L|CANX_uc011dgq.2_Missense_Mutation_p.P245L	NM_001746	NP_001737	P27824	CALX_HUMAN	Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	353	4 X approximate repeats.|P domain (Extended arm) (By similarity).				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGGAGGCTCCTCAGATTGCC	0.493000														27			37		0	0	1	0	0
C3orf32	51066	broad.mit.edu	37	3	8661680	8661680	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:8661680G>A	uc011atg.2	-	11	1042	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	C3orf32_uc003bqz.3_Silent_p.I312I|C3orf32_uc003bqs.1_Non-coding_Transcript|C3orf32_uc003bqt.3_Silent_p.I261I|C3orf32_uc003bqu.3_Silent_p.I312I|C3orf32_uc003bqv.3_Silent_p.I261I|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Silent_p.I312I	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	312										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						CTGTGAGGGGGATCAGCTCAA	0.483000														17			27		0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75316930	75316930	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:75316930C>T	uc001owu.3	-	2	1304	c.1239G>A	c.(1237-1239)gcG>gcA	p.A413A	MAP6_uc001owv.3_Silent_p.A413A	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	413						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TCGGGCCCTCCGCGCTCTTTT	0.522000														74			35		0	0	1	0	0
UBAC1	10422	broad.mit.edu	37	9	138837772	138837772	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr9:138837772G>A	uc004cgt.3	-	5	834	c.616C>T	c.(616-618)Ccg>Tcg	p.P206S		NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	Homo sapiens UBA domain containing 1 (UBAC1), mRNA.	206	UBA 1.					Golgi apparatus|plasma membrane	protein binding			NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CTGTTCTCCGGAAAGCCCATC	0.657000														4			11		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55872986	55872986	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr7:55872986C>T	uc003tqz.2	-	8	1201	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	362					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCTTCTTTCTCCTTGACTCGC	0.338000														18			16		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140793017	140793017	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:140793017G>T	uc003lkl.2	+	0	275	c.275G>T	c.(274-276)gGc>gTc	p.G92V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.G92V	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	88	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D91N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACCGCGGGCAGGATAGAC	0.597000														77			22		3.83957e-06	3.91147e-06	1	1	0
RORC	6097	broad.mit.edu	37	1	151787772	151787772	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:151787772C>T	uc001ezh.3	-	4	536	c.428G>A	c.(427-429)gGa>gAa	p.G143E	RORC_uc001ezg.3_Missense_Mutation_p.G122E|RORC_uc010pdo.2_Missense_Mutation_p.G197E|RORC_uc010pdp.2_Missense_Mutation_p.G143E	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	143	Hinge (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGTATCTGCTCCTTGGGCCCC	0.647000														21			11		0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36122480	36122480	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr22:36122480C>A	uc003aof.3	+	2	365	c.365C>A	c.(364-366)aCc>aAc	p.T122N		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	122					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GAACTTAACACCCTTGCGGAC	0.478000														19			25		3.28513e-13	3.3719e-13	1	1	0
ZNF692	55657	broad.mit.edu	37	1	249151476	249151476	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:249151476C>T	uc001ifc.2	-	3	643	c.432G>A	c.(430-432)cgG>cgA	p.R144R	ZNF692_uc001iez.2_5'Flank|ZNF692_uc001ifb.2_5'UTR|ZNF692_uc010pzr.2_Silent_p.R149R|ZNF692_uc001iff.2_Silent_p.R144R	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 2, mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	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)			ACCAACTTCTCCGAGTAGTAT	0.542000														41			62		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875536	247875536	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:247875536G>A	uc001idj.1	-	0	522	c.522C>T	c.(520-522)atC>atT	p.I174I		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A173D(1)|p.I174V(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			AGAAGTGGTTGATGGCACGGG	0.592000														52			71		0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85530645	85530645	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:85530645C>G	uc011ccv.2	+	2	807	c.309C>G	c.(307-309)atC>atG	p.I103M		NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	103					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	p.L102L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TTTTCCTGATCATCTATATGG	0.348000														73			16		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35923264	35923264	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:35923264C>T	uc003olm.3	-	16	2008	c.1897G>A	c.(1897-1899)Gat>Aat	p.D633N	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.D215N|SLC26A8_uc003oll.3_Missense_Mutation_p.D528N|SLC26A8_uc003oln.3_Missense_Mutation_p.D633N	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	633	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GCTTCGGGATCCAGTTTATTT	0.473000														56			19		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429105	57429105	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:57429105G>A	uc002xzw.3	+	0	1070	c.785G>A	c.(784-786)aGt>aAt	p.S262N	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCGGCCTCGAGTGCGGTCCGC	0.667000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				9			10		0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10439588	10439588	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:10439588G>A	uc002moa.3	-	2	617	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	162	RRM 2.					cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TGTAGACCAGGAAGCAGCGCT	0.637000														16			7		0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75852180	75852180	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:75852180C>T	uc001oxc.3	+	14	2064	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	UVRAG_uc010rrw.2_Missense_Mutation_p.S507F|UVRAG_uc001oxd.3_Missense_Mutation_p.S236F|UVRAG_uc010rrx.2_Missense_Mutation_p.S236F|UVRAG_uc010rry.2_Missense_Mutation_p.S164F	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	608					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CAGGCCGGGTCCGCCAGTGTC	0.612000														26			12		0	0	1	0	0
ERP44	23071	broad.mit.edu	37	9	102747302	102747302	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr9:102747302G>C	uc004bam.3	-	10	1274	c.1066C>G	c.(1066-1068)Ctg>Gtg	p.L356V	ERP44_uc010msy.3_Non-coding_Transcript	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN	Homo sapiens endoplasmic reticulum protein 44 (ERP44), mRNA.	356					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|endoplasmic reticulum membrane	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TCTCTGTGCAGTTTTCCAGAA	0.368000														2			6		0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153314209	153314209	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:153314209G>A	uc001fbo.3	-	5	584	c.519C>T	c.(517-519)atC>atT	p.I173I	PGLYRP4_uc001fbp.3_Silent_p.I169I	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	173					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCATAGGTGATTAGGTTTT	0.562000														47			54		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55168220	55168220	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:55168220C>T	uc003jql.3	+	3	587	c.395C>T	c.(394-396)gCt>gTt	p.A132V	IL31RA_uc003jqk.3_Missense_Mutation_p.A132V|IL31RA_uc011cqj.2_5'UTR|IL31RA_uc003jqm.3_Missense_Mutation_p.A113V|IL31RA_uc003jqn.3_Missense_Mutation_p.A132V|IL31RA_uc010iwa.1_Missense_Mutation_p.A100V|IL31RA_uc021xyq.1_Missense_Mutation_p.A113V|IL31RA_uc003jqo.3_5'UTR	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	100	Fibronectin type-III 2.				JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GAGGTGGAAGCTGAAAATGGA	0.328000														44			12		0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39723904	39723904	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:39723904C>T	uc002hxe.4	-	6	1559	c.1493G>A	c.(1492-1494)gGt>gAt	p.G498D	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	498	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				tcctcctccaccatagctgcc	0.577000														6			13		0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143784546	143784546	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:143784546C>T	uc011ljv.2	+	2	672	c.255C>T	c.(253-255)tgC>tgT	p.C85C	LOC100288181_uc022bcf.1_Non-coding_Transcript|LY6K_uc011ljw.2_3'UTR|LY6K_uc011ljx.2_Missense_Mutation_p.L75F	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus K (LY6K), transcript variant 1, mRNA.	85	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CGAAGCAGTGCTCCGCTGGTT	0.488000														28			12		0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136511780	136511780	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:136511780C>T	uc002tur.3	+	3	577	c.266C>T	c.(265-267)cCc>cTc	p.P89L	UBXN4_uc002tus.3_5'UTR	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	Homo sapiens UBX domain protein 4 (UBXN4), mRNA.	89					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AGTGGAATTCCCTTGGAAGTA	0.388000														26			41		0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138289886	138289886	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:138289886G>A	uc003esl.3	-	4	472	c.274C>T	c.(274-276)Caa>Taa	p.Q92*	CEP70_uc011bmk.2_Nonsense_Mutation_p.Q72*|CEP70_uc011bml.2_Nonsense_Mutation_p.Q74*|CEP70_uc011bmm.2_Intron|CEP70_uc003esm.3_Nonsense_Mutation_p.Q92*|CEP70_uc003esn.3_Nonsense_Mutation_p.Q92*	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	92					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CTAAGCTGTTGATTAGTTTCT	0.318000														23			7		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369821	56369821	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:56369821G>A	uc002qmd.4	+	2	1484	c.1062G>A	c.(1060-1062)gaG>gaA	p.E354E	NLRP4_uc002qmf.3_Silent_p.E279E|NLRP4_uc010etf.3_Silent_p.E185E	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	354	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGAAGCAAGAGATGCAGAAAG	0.512000														9			20		0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639299	149639299	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chrX:149639299C>T	uc011mxu.2	+	2	1689	c.1379C>T	c.(1378-1380)cCc>cTc	p.P460L	MAMLD1_uc011mxt.1_Missense_Mutation_p.P447L|MAMLD1_uc004fee.2_Missense_Mutation_p.P485L|MAMLD1_uc011mxv.2_Missense_Mutation_p.P460L|MAMLD1_uc011mxw.2_Missense_Mutation_p.P412L	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	485					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCTCACTCCCACCAGTAAT	0.562000														1			30		0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54417819	54417819	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:54417819G>A	uc002qcr.2	+	1	357	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	CACNG7_uc010era.2_Missense_Mutation_p.E88K	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	88					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TTTGGTGACGGAAAACACGGA	0.547000														20			7		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3231699	3231699	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:3231699C>T	uc021xkv.1	+	59	8340	c.8195C>T	c.(8194-8196)cCt>cTt	p.P2732L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2732					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGGGTGCACCCTTCAGAAGAC	0.547000														27			36		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187709466	187709466	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:187709466G>A	uc002upu.1	-	2	301	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	87					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTGGAAGCTTGAATTTTTTCA	0.254000														19			12		0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7504810	7504810	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:7504810G>A	uc002gia.2	-	6	942	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L		NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	193						cytosolic large ribosomal subunit	RNA binding|protein binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TCACCCAGCAGAGATGCTCGC	0.493000														108			55		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131569131	131569131	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr12:131569131G>A	uc010tbm.2	+	15	2249	c.1690G>A	c.(1690-1692)Gga>Aga	p.G564R	GPR133_uc001uit.4_Missense_Mutation_p.G532R|GPR133_uc009zyo.3_5'UTR|GPR133_uc001uiv.1_Missense_Mutation_p.G51R	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	532					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCTCACGAGAGGAAACCTCAC	0.617000														26			24		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98552848	98552849	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr7:98552848_98552849CC>TT	uc003upp.3	+	39	6046_6047	c.5837_5838CC>TT	c.(5836-5838)acc>aTT	p.T1946I	TRRAP_uc011kis.2_Missense_Mutation_p.T1928I|TRRAP_uc003upr.3_Missense_Mutation_p.T1645I	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1946					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCCACTGGACCCGGAAGATCA	0.624000														33			24		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53986293	53986293	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:53986293C>T	uc011dxa.2	+	1	178	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S	MLIP_uc003pcf.2_Missense_Mutation_p.P38S|MLIP_uc003pcg.4_Missense_Mutation_p.P38S|MLIP_uc003pch.4_Intron|MLIP_uc011dwz.1_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	38						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CACATTTGTCCCCACTGTCAG	0.413000														44			39		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151231444	151231444	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:151231444T>C	uc010ipj.3	-	52	8063	c.7819A>G	c.(7819-7821)Aac>Gac	p.N2607D	LRBA_uc010ipi.3_Missense_Mutation_p.N129D|LRBA_uc003ils.4_Missense_Mutation_p.N502D|LRBA_uc003ilt.4_Missense_Mutation_p.N1255D|LRBA_uc003ilu.4_Missense_Mutation_p.N2596D|LRBA_uc003ilr.4_Missense_Mutation_p.N27D	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2607						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATATAGCGGTTGTCTGAAGTG	0.393000														25			15		0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3627889	3627889	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:3627889C>T	uc002fwp.3	+	0	693	c.660C>T	c.(658-660)tcC>tcT	p.S220S	ITGAE_uc002fwo.4_Intron|ITGAE_uc002fwn.4_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	Homo sapiens germ cell associated 2 (haspin) (GSG2), mRNA.	220					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										TCCCCTGCTCCCAGGAGGAAG	0.632000														68			38		0	0	1	0	0
OSTN	344901	broad.mit.edu	37	3	190967844	190967844	+	Silent	SNP	A	G	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:190967844A>G	uc011bsn.2	+	2	336	c.336A>G	c.(334-336)ccA>ccG	p.P112P		NM_198184	NP_937827	P61366	OSTN_HUMAN	Homo sapiens osteocrin (OSTN), mRNA.	112					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		TAGATCATCCAAAAAGGCGAT	0.348000														47			14		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128330388	128330388	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:128330388C>T	uc003qbk.3	-	13	2584	c.2217G>A	c.(2215-2217)gtG>gtA	p.V739V	PTPRK_uc010kfc.3_Silent_p.V740V|PTPRK_uc003qbj.3_Silent_p.V740V|PTPRK_uc011ebu.2_Silent_p.V740V|PTPRK_uc003qbl.1_Silent_p.V610V|PTPRK_uc011ebv.1_Silent_p.V740V	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	739					cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GATCTGGGATCACTTCTGGTT	0.373000														50			24		0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82643599	82643599	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:82643599G>A	uc001ozt.3	+	5	1463	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	C11orf82_uc010rsr.2_Missense_Mutation_p.D106N|C11orf82_uc010rss.2_Missense_Mutation_p.D106N|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	407					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CAGTTCCCAGGATGGTGACCC	0.468000														103			55		0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50685762	50685762	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:50685762A>C	uc003jor.3	+	3	1309	c.761A>C	c.(760-762)aAa>aCa	p.K254T		NM_002202	NP_002193	P61371	ISL1_HUMAN	Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.	254	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K254E(1)|p.D253H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				CCCAATGACAAAACTGTGAGT	0.577000														14			7		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81625108	81625108	+	Silent	SNP	G	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:81625108G>T	uc021ssk.1	-	21	2955	c.2955C>A	c.(2953-2955)ccC>ccA	p.P985P	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	985						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CCTGGTGCTCGGGATCCCGGG	0.552000														2			5		0.000602214	0.000606675	1	1	0
IL13RA1	3597	broad.mit.edu	37	X	117880973	117880973	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chrX:117880973T>G	uc004eqs.3	+	2	328	c.285T>G	c.(283-285)tgT>tgG	p.C95W	IL13RA1_uc004eqr.1_Missense_Mutation_p.C95W	NM_001560	NP_001551	P78552	I13R1_HUMAN	Homo sapiens interleukin 13 receptor, alpha 1 (IL13RA1), mRNA.	95						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGAGGATTTGTCTGCAAGTGG	0.443000														7			48		0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63660941	63660941	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:63660941T>A	uc002sch.3	-	8	1225	c.763A>T	c.(763-765)Att>Ttt	p.I255F	WDPCP_uc002sce.3_Non-coding_Transcript|WDPCP_uc002scf.3_Missense_Mutation_p.I96F|WDPCP_uc010ypu.2_Non-coding_Transcript|WDPCP_uc002scg.3_Missense_Mutation_p.I63F|WDPCP_uc002sci.2_Missense_Mutation_p.I231F|WDPCP_uc010fcr.1_Missense_Mutation_p.I145F	NM_015910	NP_056994	O95876	FRITZ_HUMAN	Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), mRNA.	255					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TCAGAAGAAATGGGGGCCCAA	0.428000														19			8		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69870587	69870587	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:69870587C>T	uc011cao.1	-	7	1568	c.1442G>A	c.(1441-1443)gGa>gAa	p.G481E	UGT2B10_uc011can.1_Missense_Mutation_p.G397E			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	525					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ATCCCTTTTTCCTTTCTTTCC	0.383000														19			9		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291192	141291192	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chrX:141291192G>A	uc022cfj.1	-	0	582	c.582C>T	c.(580-582)ggC>ggT	p.G194G	MAGEC2_uc004fbu.2_Silent_p.G194G	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	194	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGGCAAGGCCAAAAAGAA	0.488000										HNSCC(46;0.14)				10			73		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108608605	108608605	+	Silent	SNP	A	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:108608605A>T	uc002tdv.3	+	2	498	c.222A>T	c.(220-222)gcA>gcT	p.A74A	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Silent_p.A74A|SLC5A7_uc010ywn.2_5'UTR	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	74					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CAGCTGAAGCAGTTTATGTAC	0.438000														21			4		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23167379	23167379	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:23167379G>A	uc003xdh.1	-	9	2021	c.1682C>T	c.(1681-1683)aCc>aTc	p.T561I	LOXL2_uc010lty.1_Missense_Mutation_p.T100I	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	561	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTCCAGGTAGGTGGTCTGCTG	0.652000														32			14		0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150936810	150936810	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr7:150936810A>G	uc003wjs.3	-	10	1297	c.1196T>C	c.(1195-1197)aTa>aCa	p.I399T	SMARCD3_uc003wjt.3_Missense_Mutation_p.I386T|SMARCD3_uc003wju.3_Missense_Mutation_p.I386T	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA.	399					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCTGGTTTATGGACTCAAT	0.542000														60			27		0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33513521	33513521	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:33513521G>A	uc010gey.2	+	15	1838	c.1717G>A	c.(1717-1719)Ggc>Agc	p.G573S	ACSS2_uc002xbc.2_Missense_Mutation_p.G465S|ACSS2_uc010zum.1_Non-coding_Transcript|ACSS2_uc002xbd.2_Missense_Mutation_p.G560S|ACSS2_uc002xbe.2_Missense_Mutation_p.G268S	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	560					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGACCAGGATGGCTATTACTG	0.483000														8			5		0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131329157	131329157	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr9:131329157C>T	uc004bvl.4	+	1	280	c.138C>T	c.(136-138)ttC>ttT	p.F46F	SPTAN1_uc011mbg.2_Silent_p.F46F|SPTAN1_uc011mbh.2_Silent_p.F58F|SPTAN1_uc004bvm.4_Silent_p.F46F|SPTAN1_uc004bvn.4_Silent_p.F46F	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	46					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCTATCGATTCCAGTTCTTTC	0.473000														9			12		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158449920	158449920	+	Missense_Mutation	SNP	A	C	C	rs139880690		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:158449920A>C	uc010pik.2	+	0	253	c.253A>C	c.(253-255)Att>Ctt	p.I85L	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTTCCTTGGCATTCTCTCAAC	0.428000														99			106		0	0	1	0	0
C10orf28	27291	broad.mit.edu	37	10	99969446	99969446	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr10:99969446C>T	uc001kox.4	+	4	1925	c.1575C>T	c.(1573-1575)gcC>gcT	p.A525A	C10orf28_uc001kow.4_Silent_p.A525A|C10orf28_uc001koy.4_Silent_p.A525A|C10orf28_uc009xvx.3_Silent_p.A525A|C10orf28_uc009xvy.3_Intron|C10orf28_uc001koz.4_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA.	525							nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)	20		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		TAAGAACTGCCGAAGAGTTCA	0.423000														10			28		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51759241	51759241	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr12:51759241C>T	uc001ryk.2	-	3	1012	c.787G>A	c.(787-789)Gag>Aag	p.E263K	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.E263K	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	263	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTGAGCACCTCCGCCTGTGCC	0.677000														23			27		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864232	153864232	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:153864232C>T	uc003inf.2	+	0	98	c.23C>T	c.(22-24)tCc>tTc	p.S8F		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	8					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AATTGTGTCTCCTTGGTCAGT	0.458000														28			24		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467127	21467127	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:21467127C>T	uc003cce.3	-	5	1117	c.709G>A	c.(709-711)Gga>Aga	p.G237R		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	237						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GTGCCACTTCCATTCCGGGCT	0.448000														26			18		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3081376	3081376	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:3081376C>T	uc022aqr.1	-	27	4749	c.4359G>A	c.(4357-4359)ggG>ggA	p.G1453G	CSMD1_uc011kwj.2_Silent_p.G846G|CSMD1_uc003wqe.3_Silent_p.G610G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1454	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGTCAGATTCCCTCCACAAG	0.502000														26			19		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10440553	10440553	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:10440553C>T	uc010coi.3	-	15	2022	c.1894G>A	c.(1894-1896)Gga>Aga	p.G632R	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.G632R|MYH2_uc010coj.3_Missense_Mutation_p.G632R	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	632	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E631V(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCATTACCTCCTTCAGCAGTT	0.438000														98			61		0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27845736	27845736	+	Nonsense_Mutation	SNP	T	G	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr12:27845736T>G	uc001ric.2	+	28	3334	c.2957T>G	c.(2956-2958)tTa>tGa	p.L986*	PPFIBP1_uc001rib.2_Nonsense_Mutation_p.L980*|PPFIBP1_uc001ria.3_Nonsense_Mutation_p.L955*|PPFIBP1_uc001rid.2_Nonsense_Mutation_p.L833*|PPFIBP1_uc001rif.2_Nonsense_Mutation_p.L493*	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	986					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGCACATGTTAAAAGAAGAT	0.458000														29			5		0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225702498	225702498	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:225702498G>A	uc001hpc.1	-	6	1471	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	ENAH_uc021pju.1_Missense_Mutation_p.P290S|ENAH_uc001hpd.1_Missense_Mutation_p.P340S|ENAH_uc001hpb.1_5'UTR	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	340	Pro-rich.				T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		gggagtggaggaggtggaggg	0.687000														3			12		0	0	1	0	0
USP14	9097	broad.mit.edu	37	18	163367	163367	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr18:163367C>T	uc002kkf.1	+	1	292	c.76C>T	c.(76-78)Cca>Tca	p.P26S	USP14_uc002kkg.1_Missense_Mutation_p.P26S|USP14_uc010wyr.1_Missense_Mutation_p.P26S	NM_005151	NP_005142	P54578	UBP14_HUMAN	Homo sapiens ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) (USP14), transcript variant 1, mRNA.	26	Ubiquitin-like.				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AGATGAACCTCCAATGGTATT	0.373000														12			14		0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90982597	90982597	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:90982597G>A	uc003yej.1	-	6	1001	c.891C>T	c.(889-891)ctC>ctT	p.L297L	NBN_uc011lgb.1_Silent_p.L297L|NBN_uc003yei.1_Silent_p.L215L	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	297					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TATACCTTTGGAGCATATCCA	0.338000								Homologous recombination						22			31		0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66997463	66997463	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:66997463C>T	uc002eqt.3	+	2	436	c.357C>T	c.(355-357)tcC>tcT	p.S119S	CES3_uc010cdz.3_Silent_p.S119S	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	119						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGATCTTCTCCGTTTCAGAGG	0.602000														32			18		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13394150	13394150	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:13394150C>T	uc002mwy.3	-	21	3989	c.3753G>A	c.(3751-3753)atG>atA	p.M1251I	CACNA1A_uc010dzc.2_Missense_Mutation_p.M777I|CACNA1A_uc010xnd.2_Missense_Mutation_p.M1254I|CACNA1A_uc021ups.1_Missense_Mutation_p.M1251I|CACNA1A_uc010xne.2_Missense_Mutation_p.M1254I|CACNA1A_uc010dze.2_Missense_Mutation_p.M1251I|CACNA1A_uc021upt.1_Missense_Mutation_p.M1252I	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1252					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGGCAATGACCATGAGGATGC	0.602000														14			20		0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45562402	45562402	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:45562402G>A	uc001zva.2	+	14	1641	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	526					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GGTGAGAGCTGAAATCATTAC	0.413000														41			20		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133249282	133249282	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr12:133249282G>A	uc001uks.1	-	14	1661	c.1617C>T	c.(1615-1617)taC>taT	p.Y539Y	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.Y512Y	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	539					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGCCCCCGACGTAGGTCTCAG	0.572000								DNA polymerases (catalytic subunits)						62			6		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995321	140995321	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chrX:140995321C>T	uc004fbt.3	+	3	2455	c.2131C>T	c.(2131-2133)Cct>Tct	p.P711S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P370S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	711							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCATTTTCCTCAGAGTCC	0.557000										HNSCC(15;0.026)				7			72		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31282366	31282366	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:31282366C>T	uc002ebr.3	+	5	617	c.519C>T	c.(517-519)gtC>gtT	p.V173V	ITGAM_uc002ebq.3_Silent_p.V173V	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	173	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGGAGTTTGTCTCAACTGTGA	0.512000														61			49		0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510565	48510565	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:48510565C>T	uc010rhx.2	+	0	221	c.221C>T	c.(220-222)tCc>tTc	p.S74F		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TATTCTTCATCCATTTCCCCC	0.428000														41			5		0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16419257	16419257	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:16419257G>A	uc003cay.3	-	4	1076	c.794C>T	c.(793-795)cCc>cTc	p.P265L	RFTN1_uc010hes.3_Missense_Mutation_p.P229L	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	265						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CACCTCCAAGGGGTTGCTCTC	0.547000														12			30		0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56232489	56232489	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr12:56232489C>T	uc001sib.3	-	5	917	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	MMP19_uc001sia.3_5'UTR|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Missense_Mutation_p.E184K	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	266	Poly-Glu.				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TCTTCTTCTTCCTCATCCCTT	0.532000														37			10		0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982358	57982358	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:57982358T>A	uc010rkc.2	+	0	142	c.142T>A	c.(142-144)Tac>Aac	p.Y48N		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y48Y(2)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CTTGGGTATGTACCTGGTCAC	0.453000														110			32		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45152286	45152286	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:45152286G>A	uc003com.3	-	3	838	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	CDCP1_uc003con.3_Silent_p.L235L	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	235						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCAGACATCAGGGTTGCTGAG	0.547000														81			80		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23854227	23854227	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr14:23854227C>T	uc001wjv.3	-	34	5258	c.5187G>A	c.(5185-5187)aaG>aaA	p.K1729K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1729					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCATCTTCTTCTTCTGGTTGA	0.483000														39			30		0	0	1	0	0
DDX11L11	0	broad.mit.edu	37	12	92119	92119	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr12:92119T>C	uc010sdi.1	-	1	219	c.191A>G	c.(190-192)cAc>cGc	p.H64R	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		CGCCAGGCAGTGGTGCAGCTG	0.592000														43			6		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7503367	7503367	+	Silent	SNP	T	C	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:7503367T>C	uc003bqm.2	+	6	1747	c.1473T>C	c.(1471-1473)ggT>ggC	p.G491G	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.G491G|GRM7_uc003bql.2_Silent_p.G491G|GRM7_uc003bqn.1_Silent_p.G74G|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	491					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.P490P(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCAACCCGGGTTACCGTCTGA	0.478000														27			46		0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219254675	219254675	+	Missense_Mutation	SNP	C	T	T	rs143475636		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:219254675C>T	uc002vhv.3	+	8	1218	c.878C>T	c.(877-879)tCc>tTc	p.S293F	SLC11A1_uc010fvp.1_Missense_Mutation_p.S293F|SLC11A1_uc010fvq.1_Missense_Mutation_p.S226F|SLC11A1_uc010zkc.1_Missense_Mutation_p.S226F|SLC11A1_uc002vhu.1_Missense_Mutation_p.S88F|SLC11A1_uc002vhw.3_Missense_Mutation_p.S175F|SLC11A1_uc010fvr.3_Missense_Mutation_p.S88F	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	293					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	p.S293S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCGCCCTGTCCGTCTCCTTT	0.547000														12			16		0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72313378	72313378	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:72313378C>T	uc010iic.3	+	8	1098	c.981C>T	c.(979-981)ctC>ctT	p.L327L	SLC4A4_uc003hfy.3_Silent_p.L327L|SLC4A4_uc010iib.3_Silent_p.L327L|SLC4A4_uc003hfz.3_Silent_p.L327L|SLC4A4_uc003hgc.4_Silent_p.L283L|SLC4A4_uc010iid.3_5'UTR|SLC4A4_uc003hga.2_Silent_p.L205L|SLC4A4_uc003hgb.3_Silent_p.L283L	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	327						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGTTCATTCTCTTAGGTCCTA	0.408000														3			5		0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242396267	242396267	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:242396267C>T	uc002wbi.2	+	13	1681	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F	FARP2_uc010zoq.2_Missense_Mutation_p.S506F|FARP2_uc010zor.2_Missense_Mutation_p.S506F	NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	506	Pro-rich.				Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CAGGGCTCATCCCCACTCCTG	0.637000														27			26		0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63660937	63660937	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:63660937G>A	uc002sch.3	-	8	1229	c.767C>T	c.(766-768)tCt>tTt	p.S256F	WDPCP_uc002sce.3_Non-coding_Transcript|WDPCP_uc002scf.3_Missense_Mutation_p.S97F|WDPCP_uc010ypu.2_Non-coding_Transcript|WDPCP_uc002scg.3_Missense_Mutation_p.S64F|WDPCP_uc002sci.2_Missense_Mutation_p.S232F|WDPCP_uc010fcr.1_Missense_Mutation_p.S146F	NM_015910	NP_056994	O95876	FRITZ_HUMAN	Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), mRNA.	256					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CTTCTCAGAAGAAATGGGGGC	0.423000														18			8		0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49405907	49405907	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:49405907G>A	uc003cwu.3	-	2	507	c.231C>T	c.(229-231)acC>acT	p.T77T	RHOA_uc010hku.3_5'UTR	NM_001664	NP_001655	P61586	RHOA_HUMAN	Homo sapiens ras homolog gene family, member A (RHOA), mRNA.	77					Rho protein signal transduction|axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of axonogenesis|positive regulation of neuron differentiation|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	p.D76N(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	GTATAACATCGGTATCTGGGT	0.493000														32			42		0	0	1	0	0
GNPDA2	132789	broad.mit.edu	37	4	44709886	44709886	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:44709886C>A	uc003gwy.3	-	5	809	c.652G>T	c.(652-654)Gaa>Taa	p.E218*	GNPDA2_uc010iga.3_Nonsense_Mutation_p.E184*|GNPDA2_uc011bzb.2_Nonsense_Mutation_p.E148*|GNPDA2_uc003gwz.1_Nonsense_Mutation_p.E218*	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 2 (GNPDA2), mRNA.	218					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TTGACTCCTTCTTCTATTGCT	0.383000														19			9		2.17888e-05	2.2114e-05	1	1	0
CPNE4	131034	broad.mit.edu	37	3	131261439	131261439	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:131261439C>T	uc011blq.2	-	14	1665	c.1555G>A	c.(1555-1557)Gac>Aac	p.D519N	CPNE4_uc003eok.3_Missense_Mutation_p.D501N|CPNE4_uc003eol.3_Missense_Mutation_p.D519N|CPNE4_uc003eom.3_Missense_Mutation_p.D501N|CPNE4_uc003eoj.3_Missense_Mutation_p.D52N	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	501										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGGACGATGTCTCGAAGAACA	0.512000														35			12		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75890845	75890845	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:75890845A>C	uc021zbv.1	-	9	2009	c.1974T>G	c.(1972-1974)aaT>aaG	p.N658K	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.N658K|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.N316K	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	658	Fibronectin type-III 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATGAAAAAACATTTTCTCCAG	0.433000														22			10		0	0	1	0	0
LCN1	3933	broad.mit.edu	37	9	138416998	138416998	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr9:138416998G>A	uc022bpk.1	+	5	582	c.522G>A	c.(520-522)gcG>gcA	p.A174A	LCN1_uc022bpj.1_Silent_p.A171A|LCN1_uc004cfz.2_Missense_Mutation_p.D176N|LCN1_uc004cga.2_Missense_Mutation_p.D176N	NM_001252618	NP_001239547	P31025	LCN1_HUMAN	Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.	0					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		TCCAGGGAGCGATTAGGGTGA	0.577000														2			27		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158485773	158485773	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:158485773G>A	uc003qqx.2	+	9	1456	c.1350G>A	c.(1348-1350)ggG>ggA	p.G450G	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Silent_p.G450G|SYNJ2_uc003qqy.2_Silent_p.G213G|SYNJ2_uc011efn.1_Silent_p.G378G|SYNJ2_uc010kjo.1_Silent_p.G399G|SYNJ2_uc003qqz.2_Silent_p.G67G	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	450							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCTGGAAGGGAAGGCCAAGG	0.657000														62			24		0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30094130	30094130	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:30094130T>A	uc002dwe.3	+	4	400	c.265T>A	c.(265-267)Tat>Aat	p.Y89N	BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.3_Missense_Mutation_p.Y89N	NM_002720	NP_002711	P60510	PP4C_HUMAN	Homo sapiens protein phosphatase 4, catalytic subunit (PPP4C), mRNA.	89					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	NF-kappaB-inducing kinase activity|metal ion binding|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CCGTGGCTTCTATAGCGTCGA	0.587000														37			32		0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117884746	117884746	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr10:117884746C>T	uc001lcj.3	-	5	1454	c.756G>A	c.(754-756)acG>acA	p.T252T	GFRA1_uc001lci.3_Silent_p.T247T|GFRA1_uc009xyr.3_Silent_p.T247T	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	252					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AGATGTAATTCGTCTTGCAGG	0.547000														7			16		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103766	168103766	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:168103766G>A	uc002udx.3	+	8	5953	c.5864G>A	c.(5863-5865)gGa>gAa	p.G1955E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G1780E|XIRP2_uc010fpq.3_Missense_Mutation_p.G1733E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1780					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGATGGCAGGATCCTCGGGA	0.428000														10			20		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56388494	56388494	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:56388494C>T	uc002ivx.4	-	18	4033	c.3162G>A	c.(3160-3162)gaG>gaA	p.E1054E	BZRAP1_uc010dcs.3_Silent_p.E994E|BZRAP1_uc010wnt.2_Silent_p.E1054E	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1054	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCACGACCACCTCACGACACA	0.682000														10			4		0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40758302	40758302	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:40758302C>T	uc001zlu.2	+	6	2387	c.2316C>T	c.(2314-2316)caC>caT	p.H772H	BAHD1_uc001zlt.2_Silent_p.H771H|BAHD1_uc010bbp.1_Silent_p.H768H|BAHD1_uc001zlv.2_Silent_p.H769H	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	772	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ACTTCCGCCACGGGCGCATCC	0.632000														75			31		0	0	1	0	0
C11orf9	745	broad.mit.edu	37	11	61544786	61544786	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:61544786G>A	uc001nsc.1	+	11	1737	c.1641G>A	c.(1639-1641)cgG>cgA	p.R547R	C11orf9_uc001nse.1_Silent_p.R538R|C11orf9_uc010rll.1_5'Flank	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	547					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						TGTGGCAGCGGGCACAGGTGC	0.652000														31			18		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44104796	44104796	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:44104796G>A	uc002rtq.3	+	11	1943	c.1853G>A	c.(1852-1854)gGg>gAg	p.G618E	ABCG8_uc010yoa.2_Missense_Mutation_p.G617E	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	618	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATGCCTCTCGGGAACCTCACC	0.517000											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			38		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139603675	139603675	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:139603675C>T	uc003yvd.3	-	63	5132	c.4685G>A	c.(4684-4686)gGa>gAa	p.G1562E	COL22A1_uc011ljo.2_Missense_Mutation_p.G842E	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1562	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCTGGGATTCCAGGGGGTCC	0.602000										HNSCC(7;0.00092)				15			12		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274214	103274214	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:103274214C>T	uc002tca.3	+	1	623	c.481C>T	c.(481-483)Cca>Tca	p.P161S		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	161						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.P161T(2)|p.R160H(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCCCACTCGCCCATTCTTTGA	0.478000														70			85		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976586	20976586	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:20976586T>G	uc010vbe.2	-	52	8620	c.8620A>C	c.(8620-8622)Att>Ctt	p.I2874L	DNAH3_uc010vbd.2_Missense_Mutation_p.I309L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2874	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACATTTTTAATGACAGCTGGC	0.547000														73			63		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256222	52256222	+	Missense_Mutation	SNP	G	A	A	rs145698725	byFrequency	TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:52256222G>A	uc003ddb.3	-	4	2611	c.2401C>T	c.(2401-2403)Cgg>Tgg	p.R801W	TLR9_uc003dda.2_Missense_Mutation_p.R704W	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	704					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCCAGCCTCCGGAGCCGGGTG	0.627000														41			19		0	0	1	0	0
FABP1	2168	broad.mit.edu	37	2	88425707	88425707	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:88425707C>T	uc002sst.2	-	1	342	c.228G>A	c.(226-228)ggG>ggA	p.G76G		NM_001443	NP_001434	P07148	FABPL_HUMAN	Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA.	76					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TGACTTTCTCCCCTGTCATTG	0.517000														66			88		0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27375673	27375673	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:27375673C>T	uc010ylg.2	+	2	640	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	Homo sapiens transcription factor 23 (TCF23), mRNA.	195					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		p.V194F(1)|p.P195H(1)		large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCCAAGTCCCTGGAGAGGC	0.542000														39			11		0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105936405	105936405	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr14:105936405G>A	uc001yqx.3	+	20	2188	c.2001G>A	c.(1999-2001)aaG>aaA	p.K667K	MTA1_uc001yqy.3_3'UTR|MTA1_uc021seq.1_Silent_p.K655K|MTA1_uc001yrb.3_Silent_p.K432K|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank	NM_004689	NP_004680	Q13330	MTA1_HUMAN	Homo sapiens metastasis associated 1 (MTA1), transcript variant 1, mRNA.	667					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CCCACAGGAAGATCCGCAAGC	0.701000														24			16		0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46331365	46331366	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:46331365_46331366GG>TA	uc002xto.3	-	3	794_795	c.464_465CC>TA	c.(463-465)ccc>cTA	p.P155L	SULF2_uc002xtr.3_Missense_Mutation_p.P155L|SULF2_uc002xtq.3_Missense_Mutation_p.P155L|SULF2_uc010ghv.1_Missense_Mutation_p.P155L	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	155					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCTTCCAGCCGGGTGGCACGTA	0.535000														15			11		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35793339	35793339	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:35793339C>T	uc003jjo.3	+	31	4744	c.4633C>T	c.(4633-4635)Cct>Tct	p.P1545S	SPEF2_uc003jjp.1_Missense_Mutation_p.P1031S|SPEF2_uc003jjr.3_Missense_Mutation_p.P600S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1545					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACCTCAATGCCTTGGCCCAT	0.453000														31			31		0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78383291	78383291	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:78383291T>C	uc001dic.4	+	2	365	c.68T>C	c.(67-69)gTa>gCa	p.V23A	NEXN_uc001dia.3_Missense_Mutation_p.V23A|NEXN_uc009wcb.1_Intron|NEXN_uc001dib.4_Intron|NEXN_uc001did.1_5'Flank|NEXN_uc001dif.1_5'Flank	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	23					regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAAACCTATGTACCAAAACTT	0.348000														18			5		0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113771799	113771799	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr13:113771799G>A	uc001vsv.3	+	7	745	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	F7_uc001vsw.3_Missense_Mutation_p.V210M|F7_uc010tjt.2_Missense_Mutation_p.V163M	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	232	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCTGTTGTTGGTGAATGGAGC	0.562000														36			36		0	0	1	0	0
RTKN	6242	broad.mit.edu	37	2	74653396	74653396	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:74653396G>A	uc002sle.3	-	11	1783	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	RTKN_uc002slc.3_Missense_Mutation_p.R543C|RTKN_uc002sld.3_Missense_Mutation_p.R506C	NM_001015055	NP_001015056	Q9BST9	RTKN_HUMAN	Homo sapiens rhotekin (RTKN), transcript variant 1, mRNA.	556					Rho protein signal transduction|apoptosis|regulation of anti-apoptosis	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						AGCCAAGTGCGAGGTTGGCCT	0.622000														70			77		0	0	1	0	0
NAA60	79903	broad.mit.edu	37	16	3526276	3526276	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:3526276C>T	uc002cvh.4	+	2	295	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	NAA60_uc010uxb.1_Intron|NAA60_uc010btk.1_Intron|NAA60_uc010btl.3_5'UTR|NAA60_uc021tcf.1_Missense_Mutation_p.L17F|NAA60_uc010btm.3_Missense_Mutation_p.L17F|NAA60_uc010uxd.2_Non-coding_Transcript|NAA60_uc010uxe.2_Non-coding_Transcript|NAA60_uc002cvg.2_Missense_Mutation_p.L17F	NM_001083601	NP_079121	Q9H7X0	NAT15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 60, NatF catalytic subunit (NAA60), transcript variant 1, mRNA.	17	N-acetyltransferase.						N-acetyltransferase activity	p.R16C(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						CAGCCTGCGCCTCCTCTGCCA	0.622000														13			10		0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31478085	31478085	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:31478085C>T	uc010vfn.2	+	7	3092	c.2968C>T	c.(2968-2970)Ccg>Tcg	p.P990S	ARMC5_uc010vfo.2_Missense_Mutation_p.P927S|ARMC5_uc002ecc.3_Missense_Mutation_p.P895S|ARMC5_uc002eca.4_3'UTR|ARMC5_uc002ecb.2_3'UTR|ARMC5_uc010vfp.2_Missense_Mutation_p.P703S	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	895							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGAGCAGTGCCCGAGGAAGCG	0.697000														8			3		0	0	1	0	0
XAGE5	170627	broad.mit.edu	37	X	52842245	52842245	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chrX:52842245G>A	uc004drd.1	+	2	219	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_130775	NP_570131	Q8WWM1	GAGD5_HUMAN	Homo sapiens X antigen family, member 5 (XAGE5), mRNA.	52								p.D52Y(2)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						GAGAGAAGATGATCAGGGTGC	0.547000														3			19		0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882898	42882898	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:42882898G>A	uc002ihj.3	-	1	799	c.288C>T	c.(286-288)atC>atT	p.I96I	GJC1_uc002ihk.3_Silent_p.I96I|GJC1_uc002ihl.3_Silent_p.I96I|GJC1_uc021tyf.1_Silent_p.I96I	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	96					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CAATCTTGTGGATAGCATAGC	0.522000														55			58		0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4694776	4694776	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:4694776G>A	uc002mba.3	-	12	1671	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.	442					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CATTGGCGCGGAGAAAGCAGA	0.542000														12			10		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538903	55538903	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:55538903C>T	uc003xsd.1	+	3	2609	c.2461C>T	c.(2461-2463)Cat>Tat	p.H821Y	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	821					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGTTTATTTCATGTATTTAA	0.348000														17			11		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766962	57766962	+	Silent	SNP	A	G	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:57766962A>G	uc002yan.3	+	0	888	c.888A>G	c.(886-888)caA>caG	p.Q296Q		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	296						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCAGCACACAACCCTGGCGTA	0.687000														68			31		0	0	1	0	0
YIPF5	81555	broad.mit.edu	37	5	143545126	143545126	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:143545126G>A	uc003lnk.4	-	2	594	c.153C>T	c.(151-153)gtC>gtT	p.V51V	YIPF5_uc003lnl.4_Silent_p.V51V|YIPF5_uc010jgl.3_5'UTR	NM_001024947	NP_110426	Q969M3	YIPF5_HUMAN	Homo sapiens Yip1 domain family, member 5 (YIPF5), transcript variant 1, mRNA.	51					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle|Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGTCTGGAGGGACAAATCTGC	0.423000														39			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208719	140208719	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:140208719C>T	uc003lho.2	+	0	1070	c.1043C>T	c.(1042-1044)cCt>cTt	p.P348L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.P348L|PCDHAC2_uc011dab.2_Missense_Mutation_p.P348L	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	363	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAACGTCCCTGAGATAGCA	0.468000														65			20		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70944551	70944551	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:70944551C>T	uc003pfg.4	-	33	2364	c.2205G>A	c.(2203-2205)cgG>cgA	p.R735R	COL9A1_uc003pfe.4_Silent_p.R284R|COL9A1_uc003pff.4_Silent_p.R492R	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	735	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCTGCACACCCCGGGGTCCAG	0.642000														15			4		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119751973	119751973	+	Silent	SNP	G	A	A	rs149477153		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:119751973G>A	uc002tln.1	+	16	1572	c.1440G>A	c.(1438-1440)caG>caA	p.Q480Q	MARCO_uc010yyf.1_Silent_p.Q402Q	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	480	SRCR.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.Q480Q(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCACTGGGCAGATCTGGCTGG	0.547000														21			10		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169519975	169519975	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:169519975G>A	uc001ggg.1	-	8	1444	c.1299C>T	c.(1297-1299)atC>atT	p.I433I	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	433	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTTGAACACGATCTACAAAG	0.378000														26			31		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50657146	50657146	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr22:50657146C>T	uc003bkb.1	-	20	5319	c.4807G>A	c.(4807-4809)Gag>Aag	p.E1603K	TUBGCP6_uc003bka.1_Missense_Mutation_p.E690K|TUBGCP6_uc010har.1_Missense_Mutation_p.E1595K|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1603					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TACCTGAGCTCCAGGCAGCTC	0.687000														3			25		0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626326	49626326	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:49626326C>T	uc002xwa.4	-	1	845	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	KCNG1_uc002xwb.3_Missense_Mutation_p.E184K	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	184						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCGTCCTCTTCCTCCCGCTCC	0.706000														39			13		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108334251	108334251	+	Silent	SNP	T	G	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:108334251T>G	uc003ymn.3	-	3	1149	c.681A>C	c.(679-681)acA>acC	p.T227T	ANGPT1_uc011lhv.2_Silent_p.T27T|ANGPT1_uc003ymo.3_Silent_p.T227T|ANGPT1_uc003ymp.4_Silent_p.T27T	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	227					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.Q226E(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GGATTATATATGTTTGACGAG	0.418000														34			33		0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56713271	56713271	+	Splice_Site	SNP	C	G	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr12:56713271C>G	uc001skx.3	-	23	3480	c.3103_splice	c.e23-1	p.V1035_splice	PAN2_uc001skw.3_Splice_Site_p.V183_splice|PAN2_uc001sky.3_Splice_Site_p.V1031_splice|PAN2_uc001skz.3_Splice_Site_p.V1034_splice	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	1035	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TAATCCACCACCTAGGAATAG	0.453000														56			23		0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9632275	9632275	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:9632275C>T	uc010cod.3	+	14	3340	c.3340C>T	c.(3340-3342)Cga>Tga	p.R1114*	USP43_uc002gma.4_Nonsense_Mutation_p.R803*|USP43_uc010vva.2_Nonsense_Mutation_p.R1109*|USP43_uc010coe.3_Nonsense_Mutation_p.R911*|USP43_uc002gmc.4_Nonsense_Mutation_p.R626*	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	1114					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TTCTTTAGGTCGAAAGAAAAC	0.493000											OREG0024168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		71			50		0	0	1	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40825199	40825199	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:40825199G>A	uc002iau.2	-	5	1231	c.764C>T	c.(763-765)gCc>gTc	p.A255V	PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_Missense_Mutation_p.A255V	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA.	255	MyTH4.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CTCACCTGGGGCGCTGACTCC	0.572000														76			19		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155450656	155450656	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:155450656G>C	uc003qqb.3	+	5	1572	c.299G>C	c.(298-300)gGg>gCg	p.G100A	TIAM2_uc003qqe.3_Missense_Mutation_p.G100A	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	100					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AATGCCCCAGGGAAGGATTTC	0.547000														5			15		0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49568701	49568701	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:49568701G>A	uc021wxz.1	+	2	1226	c.757G>A	c.(757-759)Gag>Aag	p.E253K	DAG1_uc021wya.1_Missense_Mutation_p.E253K|DAG1_uc021wyb.1_Missense_Mutation_p.E253K|DAG1_uc021wyc.1_Missense_Mutation_p.E253K|DAG1_uc021wyd.1_Missense_Mutation_p.E253K|DAG1_uc021wye.1_Missense_Mutation_p.E253K|DAG1_uc021wyf.1_Missense_Mutation_p.E253K|DAG1_uc021wyg.1_Missense_Mutation_p.E253K|DAG1_uc021wyh.1_Missense_Mutation_p.E253K|DAG1_uc021wyi.1_Missense_Mutation_p.E253K|DAG1_uc021wyj.1_Missense_Mutation_p.E253K|DAG1_uc021wyk.1_Missense_Mutation_p.E253K|DAG1_uc003cxc.4_Missense_Mutation_p.E253K	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	253	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AAAGGTGGTGGAGAATGGGGC	0.537000														15			18		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101286	80101286	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:80101286T>G	uc010ysh.2	+	4	675	c.670T>G	c.(670-672)Tct>Gct	p.S224A	CTNNA2_uc010yse.2_Missense_Mutation_p.S224A|CTNNA2_uc010ysf.2_Missense_Mutation_p.S224A|CTNNA2_uc010ysg.2_Missense_Mutation_p.S224A	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	224					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTACACGGCCTCTCAAGCATT	0.562000														27			10		0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230921727	230921727	+	Splice_Site	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:230921727G>A	uc001htz.1	+	12	1595	c.1482_splice	c.e12-1	p.R494_splice	CAPN9_uc009xfg.1_Splice_Site_p.R431_splice|CAPN9_uc001hua.1_Splice_Site_p.R468_splice	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	494	Domain III.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.R494R(1)|p.R468R(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GCCCCTACAGGGATATGGATG	0.478000														219			107		0	0	1	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612000														14			3		0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114462430	114462430	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:114462430T>C	uc003kqs.3	-	9	2466	c.1957A>G	c.(1957-1959)Aat>Gat	p.N653D	TRIM36_uc011cwc.2_Missense_Mutation_p.N641D|TRIM36_uc003kqt.3_Missense_Mutation_p.N498D	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	653	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TCAGGTTCATTAGAAGAAGTA	0.368000														14			27		0	0	1	0	0
HMGCL	3155	broad.mit.edu	37	1	24147024	24147024	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:24147024G>A	uc001bib.3	-	1	164	c.120C>T	c.(118-120)ccC>ccT	p.P40P	HMGCL_uc010oec.2_Silent_p.P40P|HMGCL_uc001bic.3_Silent_p.P15P|HMGCL_uc009vqs.1_Silent_p.P40P|HMGCL_uc021oii.1_5'Flank	NM_000191	NP_000182	P35914	HMGCL_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	40					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.P40T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		GTCCATCTCGGGGACCAACTT	0.398000														14			22		0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128707715	128707715	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:128707715G>A	uc003elj.4	-	2	505	c.309C>T	c.(307-309)caC>caT	p.H103H	KIAA1257_uc003elg.1_Silent_p.H103H|KIAA1257_uc003eli.4_5'UTR	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	103										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CTGTTTTAGGGTGTTTCTTAT	0.363000														13			18		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62235003	62235003	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:62235003C>T	uc001dab.3	+	4	547	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	INADL_uc009waf.1_Missense_Mutation_p.L145F|INADL_uc001daa.2_Missense_Mutation_p.L145F|INADL_uc001dad.3_5'Flank	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	145	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AACTGGAGGCCTTGGATTCAG	0.443000														35			29		0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133014418	133014418	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:133014418G>A	uc003qdo.3	-	3	591	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	191	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	p.V190A(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GGCTCCTTGGGTACATTGAAT	0.368000														22			28		0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3964974	3964974	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:3964974G>A	uc002lzc.1	-	1	172	c.78C>T	c.(76-78)atC>atT	p.I26I	DAPK3_uc002lzd.1_Silent_p.I26I	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	26	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	PML body|cytoplasm	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTTCCGCACGATCGCAAACT	0.677000														20			27		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1574875	1574875	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:1574875G>A	uc002cmb.3	-	22	3269	c.2907C>T	c.(2905-2907)ggC>ggT	p.G969G	IFT140_uc002clz.3_Silent_p.G582G	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	969										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CGTCCATCTCGCCCTGGCTCT	0.672000														44			4		0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38061817	38061817	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:38061817C>T	uc003chm.3	-	1	478	c.124G>A	c.(124-126)Gcg>Acg	p.A42T	PLCD1_uc003chn.3_Missense_Mutation_p.A21T	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	21	PH.|Substrate binding (By similarity).				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TTCAGCAGCGCCTGTAGATCC	0.562000														37			16		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399321	10399321	+	Silent	SNP	G	A	A	rs145122906		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:10399321G>A	uc002gmo.3	-	34	5209	c.5115C>T	c.(5113-5115)atC>atT	p.I1705I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1705						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.I1705I(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTGTTCTGCGATTTTCCTGC	0.532000														51			17		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55198719	55198719	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:55198719G>A	uc003pcm.1	+	2	379	c.293G>A	c.(292-294)gGa>gAa	p.G98E		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	98						integral to membrane	receptor activity	p.L97I(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAACTGCTTGGAAAAAAATGT	0.294000														48			47		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110455210	110455210	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:110455210C>T	uc003yne.3	+	35	4533	c.4429C>T	c.(4429-4431)Cat>Tat	p.H1477Y		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1477					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCTGGAATCCATTATTATAG	0.363000										HNSCC(38;0.096)				33			27		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72306269	72306269	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:72306269C>T	uc002jkf.3	+	10	1571	c.1461C>T	c.(1459-1461)acC>acT	p.T487T	DNAI2_uc002jkg.3_Silent_p.T475T|DNAI2_uc010dfp.3_Non-coding_Transcript|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	487					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.T487I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGCTCTCTACCCTCCAGAGGA	0.642000									Kartagener syndrome					19			14		0	0	1	0	0
IL1A	3552	broad.mit.edu	37	2	113539266	113539266	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:113539266C>T	uc002tig.3	-	3	1194	c.234G>A	c.(232-234)ggG>ggA	p.G78G		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	78					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	p.G78R(1)		breast(2)|large_intestine(1)|lung(9)	12						TCAGAACCTTCCCGTTGGTTG	0.478000														50			35		0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118771535	118771535	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:118771535G>A	uc002tlj.3	-	0	205	c.37C>T	c.(37-39)Ccg>Tcg	p.P13S	CCDC93_uc010fld.2_Missense_Mutation_p.P69S	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	13										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTTACCTCCGGGAGACCCTGG	0.706000														5			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8976763	8976763	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:8976763G>A	uc002mkp.3	-	72	42507	c.42303C>T	c.(42301-42303)tcC>tcT	p.S14101S	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.S901S|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14132	SEA 14.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCCCTCGGTGGAGTTGAATG	0.562000														17			6		0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110442710	110442710	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:110442710G>A	uc003hzk.3	+	13	2491	c.2436G>A	c.(2434-2436)caG>caA	p.Q812Q	SEC24B_uc003hzl.3_Silent_p.Q777Q|SEC24B_uc011cfp.2_Silent_p.Q842Q|SEC24B_uc011cfq.2_Silent_p.Q811Q|SEC24B_uc011cfr.2_Silent_p.Q776Q	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	812					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTGTATTTCAGACACAGTTAC	0.418000														9			16		0	0	1	0	0
TSLP	85480	broad.mit.edu	37	5	110407633	110407633	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:110407633G>A	uc003kpb.2	+	0	244	c.45G>A	c.(43-45)agG>agA	p.R15R	TSLP_uc003kpa.2_Non-coding_Transcript	NM_033035	NP_149024	Q969D9	TSLP_HUMAN	Homo sapiens thymic stromal lymphopoietin (TSLP), transcript variant 1, mRNA.	15						extracellular space	cytokine activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTTCTTTCAGGAAAATCTTCA	0.408000														34			33		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71025513	71025513	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr10:71025513G>A	uc001jpf.4	+	16	2678	c.2545G>A	c.(2545-2547)Ggg>Agg	p.G849R	HKDC1_uc010qje.2_Missense_Mutation_p.G712R|HKDC1_uc009xqb.3_Non-coding_Transcript	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	849					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGAAGACCAGGGGCTAGAGCA	0.652000														5			14		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100568857	100568857	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr8:100568857C>T	uc003yiv.3	+	30	5111	c.5000C>T	c.(4999-5001)gCc>gTc	p.A1667V	VPS13B_uc003yiw.3_Missense_Mutation_p.A1642V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1667					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAAATCCAGCCCTTGAGTGG	0.408000														15			7		0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20352644	20352644	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:20352644C>T	uc002dhb.3	-	7	1574	c.1445G>A	c.(1444-1446)aGa>aAa	p.R482K	UMOD_uc002dgz.3_Missense_Mutation_p.R449K|UMOD_uc002dha.3_Missense_Mutation_p.R449K	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	449	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.E482E(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCCGCCCACTCTGATGTTTAG	0.587000														21			23		0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106207967	106207967	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr14:106207967G>A	uc001yse.3	-	4	880	c.434C>T	c.(433-435)cCc>cTc	p.P145L	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		GTCCAGCACGGGAGGCGTGGT	0.597000														102			53		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99012480	99012480	+	Silent	SNP	C	A	A	rs104893613		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:99012480C>A	uc010fij.3	+	7	1000	c.859C>A	c.(859-861)Cgg>Agg	p.R287R	CNGA3_uc002syt.3_Silent_p.R283R|CNGA3_uc002syu.3_Silent_p.R265R			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	283					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GAAGTTTTCCCGGCTCTTTGA	0.493000														23			11		0.00829132	0.00832191	1	1	0
OR11A1	26531	broad.mit.edu	37	6	29395223	29395223	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:29395223C>T	uc003nmg.3	-	0	287	c.196G>A	c.(196-198)Gcg>Acg	p.A66T		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GACAGATTCGCCAAGAAAATA	0.458000														32			27		0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75263520	75263520	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:75263520G>A	uc002fdv.3	-	6	2648	c.2502C>T	c.(2500-2502)gcC>gcT	p.A834A	BCAR1_uc002fdt.3_Silent_p.A287A|BCAR1_uc002fdu.3_Silent_p.A624A|BCAR1_uc010vna.2_Silent_p.A832A|BCAR1_uc010cgu.3_Silent_p.A852A|BCAR1_uc010vnb.2_Silent_p.A880A|BCAR1_uc002fdw.3_Silent_p.A834A|BCAR1_uc010vnc.2_Silent_p.A686A|BCAR1_uc010vnd.2_Silent_p.A852A|BCAR1_uc002fdx.3_Silent_p.A852A	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	834					B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTACTGCAAGGCAGCGGCCT	0.682000														15			4		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6093469	6093469	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr18:6093469G>A	uc002kmz.4	-	14	1418	c.1258C>T	c.(1258-1260)Cgt>Tgt	p.R420C	L3MBTL4_uc002kmy.4_Missense_Mutation_p.R420C|L3MBTL4_uc010dkt.3_Missense_Mutation_p.R420C	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	420					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R420C(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TCTCTCAAACGATCGTGAAGT	0.383000														53			40		0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105181010	105181010	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr14:105181010G>A	uc001ypb.2	+	20	3654	c.3511G>A	c.(3511-3513)Gat>Aat	p.D1171N	INF2_uc001ypc.2_Missense_Mutation_p.D1171N|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	1171					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCCAGGTGGGGATGAGGACGA	0.682000														46			6		0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28627033	28627033	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:28627033C>T	uc002rma.3	+	1	971	c.162C>T	c.(160-162)atC>atT	p.I54I	FOSL2_uc021vfg.1_Silent_p.I29I|FOSL2_uc010ymi.2_Silent_p.I15I	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	54					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TCAACGCCATCACGACCAGCC	0.542000														23			33		0	0	1	0	0
MLL5	55904	broad.mit.edu	37	7	104715152	104715152	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr7:104715152C>T	uc003vcm.3	+	7	1153	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	MLL5_uc010lja.1_Nonsense_Mutation_p.Q61*|MLL5_uc010ljb.1_Nonsense_Mutation_p.Q207*|MLL5_uc003vcl.3_Nonsense_Mutation_p.Q207*|MLL5_uc010ljc.3_Nonsense_Mutation_p.Q207*|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	207					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						TACTGCATTTCAGCATACTCC	0.338000														46			36		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206659773	206659773	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:206659773C>T	uc002vaw.3	+	16	3578	c.2787C>T	c.(2785-2787)tcC>tcT	p.S929S	NRP2_uc002vax.3_Silent_p.S924S|NRP2_uc002vay.3_Silent_p.S907S	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	929					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AGTGCTGCTCCGAGGCATGAC	0.493000														6			3		0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773622	35773622	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:35773622G>A	uc003olg.1	+	0	552	c.175G>A	c.(175-177)Gca>Aca	p.A59T		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	59						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CACACCGCAGGCAGGCTACTT	0.607000														85			97		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13916475	13916475	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:13916475G>A	uc003jfd.2	-	8	1221	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	393	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAGAGATGTGATCTTCTCAG	0.303000									Kartagener syndrome					14			15		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55620477	55620477	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr6:55620477G>A	uc003pcq.3	-	6	1931	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	BMP5_uc011dxf.2_Missense_Mutation_p.H370Y	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	407					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AACATCAGATGAACCTGGGAA	0.333000														55			15		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105451016	105451016	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chrX:105451016C>A	uc022cca.1	+	0	1591	c.1591C>A	c.(1591-1593)Cag>Aag	p.Q531K	MUM1L1_uc004emg.2_Missense_Mutation_p.Q531K|MUM1L1_uc004emf.2_Missense_Mutation_p.Q531K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	531										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTAACTTCCCAGACCAAGAA	0.448000														1			4		0.00024832	0.000251089	1	1	0
FPR3	2359	broad.mit.edu	37	19	52327897	52327897	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:52327897C>A	uc002pxt.1	+	1	1080	c.896C>A	c.(895-897)cCa>cAa	p.P299Q	FPR3_uc021uyq.1_Missense_Mutation_p.P299Q	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	299					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TGCCTCAACCCAATTCTCTAC	0.458000														97			25		1.42536e-11	1.45751e-11	1	1	0
KIAA1377	57562	broad.mit.edu	37	11	101833124	101833124	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:101833124C>T	uc001pgm.3	+	5	1628	c.1358C>T	c.(1357-1359)cCt>cTt	p.P453L	KIAA1377_uc001pgn.3_Missense_Mutation_p.P409L|KIAA1377_uc010run.2_Missense_Mutation_p.P254L|KIAA1377_uc009yxa.1_Missense_Mutation_p.P254L	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	453							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ACTTCAATTCCTACTTCATGT	0.373000														30			7		0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4714224	4714224	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:4714224C>T	uc002fzc.3	+	9	1114	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W	PLD2_uc010vsj.2_Missense_Mutation_p.R187W|PLD2_uc002fzd.3_Missense_Mutation_p.R330W	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	330					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CGCCCCACCCCGGCCTGGGAC	0.617000														22			6		0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82336140	82336140	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:82336140G>A	uc002bgq.1	-	1	1386	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	Homo sapiens mex-3 homolog B (C. elegans) (MEX3B), mRNA.	357					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	RNA binding|calcium ion binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GCTGCAGCTCGGGGCAGCCGT	0.647000														38			25		0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5545717	5545717	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:5545717C>T	uc002wme.4	-	14	1488	c.1275G>A	c.(1273-1275)gtG>gtA	p.V425V	GPCPD1_uc002wmd.4_Silent_p.V244V	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	Homo sapiens glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) (GPCPD1), mRNA.	425	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						CCTCCTGAACCACAGATTCTG	0.333000														53			11		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18554414	18554414	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:18554414G>A	uc001bau.2	+	1	476	c.93G>A	c.(91-93)gaG>gaA	p.E31E		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	31	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TCAACATTGAGCCTCTCCCCC	0.582000														43			48		0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354506	42354506	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:42354506G>A	uc010xwe.2	+	6	965	c.882G>A	c.(880-882)agG>agA	p.R294R	DMRTC2_uc002orr.1_Silent_p.R171R|DMRTC2_uc002ors.3_Intron	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	275	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GAAAAAGCAGGAAACTGAAGG	0.597000														27			41		0	0	1	0	0
CSTL1	128817	broad.mit.edu	37	20	23424629	23424629	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:23424629G>A	uc002wte.3	+	2	524	c.278G>A	c.(277-279)aGg>aAg	p.R93K	CSTL1_uc010zsu.2_Non-coding_Transcript|CSTL1_uc010zsv.2_Non-coding_Transcript	NM_138283	NP_612140	Q9H114	CST1L_HUMAN	Homo sapiens cystatin-like 1 (CSTL1), mRNA.	93						extracellular region	cysteine-type endopeptidase inhibitor activity	p.R93M(2)|p.R93K(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					AAATGCAAGAGGAATGACACG	0.473000														26			23		0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40652809	40652809	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:40652809C>T	uc002hzs.3	+	15	1952	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	ATP6V0A1_uc002hzr.3_Silent_p.I588I|ATP6V0A1_uc002hzq.3_Silent_p.I588I|ATP6V0A1_uc010wgj.2_Silent_p.I545I|ATP6V0A1_uc010wgk.2_Silent_p.I545I|ATP6V0A1_uc010cyg.3_Silent_p.I234I|ATP6V0A1_uc010wgl.2_Silent_p.I447I	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	588					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		ATTTGGTTATCCTTATTTTTT	0.383000														113			21		0	0	1	0	0
CAMP	820	broad.mit.edu	37	3	48265928	48265928	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:48265928G>A	uc003csj.2	+	1	451	c.286G>A	c.(286-288)Gat>Aat	p.D96N		NM_004345	NP_004336	P49913	CAMP_HUMAN	Homo sapiens cathelicidin antimicrobial peptide (CAMP), mRNA.	96					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTCACCAGAGGATTGTGACTT	0.597000														18			5		0	0	1	0	0
GCHFR	2644	broad.mit.edu	37	15	41058048	41058048	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:41058048C>T	uc001zmr.1	+	1	154	c.60C>T	c.(58-60)ggC>ggT	p.G20G	GCHFR_uc010ucr.1_Intron	NM_005258	NP_005249	P30047	GFRP_HUMAN	Homo sapiens GTP cyclohydrolase I feedback regulator (GCHFR), mRNA.	20					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CTATGGTGGGCGATGAACAGT	0.577000														8			5		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169566395	169566395	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:169566395G>A	uc001ggi.4	-	10	1790	c.1725C>T	c.(1723-1725)ctC>ctT	p.L575L	SELP_uc001ggh.3_Silent_p.L410L|SELP_uc009wvr.3_Silent_p.L575L	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	575	Sushi 7.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CTGGGGCAAAGAGTTCTGGGC	0.438000														22			8		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38530661	38530661	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr7:38530661G>A	uc003tgu.3	-	4	601	c.385C>T	c.(385-387)Cct>Tct	p.P129S	AMPH_uc003tgv.3_Missense_Mutation_p.P129S	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	129	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.P129S(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTTATGTCAGGAAATTGCCCC	0.398000														69			77		0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57873154	57873154	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:57873154G>A	uc003hcl.1	+	9	1433	c.1390G>A	c.(1390-1392)Gct>Act	p.A464T	POLR2B_uc011cae.1_Missense_Mutation_p.A457T|POLR2B_uc011caf.1_Missense_Mutation_p.A389T|POLR2B_uc003hcm.1_5'Flank	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	464					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TCAAGCCAGAGCTGGAGTATC	0.378000														29			8		0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70308713	70308714	+	Missense_Mutation	DNP	CT	AA	AA			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:70308713_70308714CT>AA	uc003kar.1	-	3	747_748	c.29_30AG>TT	c.(28-30)gag>gTT	p.E10V	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.E10V|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	10					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GGGAGATCCTCTCGTCAGAGGC	0.450000														6			22		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181539	140181539	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:140181539G>A	uc003lhf.2	+	0	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.E253K	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	268	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATTACTCGAAAATGCACC	0.443000														32			7		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56531793	56531793	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:56531793A>C	uc002qmj.3	+	5	675	c.675A>C	c.(673-675)gaA>gaC	p.E225D	NLRP5_uc002qmi.3_Missense_Mutation_p.E206D	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	225						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGACAGAAGAACAAGGTGAGG	0.388000														23			9		0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11287481	11287481	+	Silent	SNP	T	G	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:11287481T>G	uc002mqm.3	-	4	1636	c.1557A>C	c.(1555-1557)tcA>tcC	p.S519S	KANK2_uc021upe.1_Silent_p.S511S|KANK2_uc002mqo.4_Silent_p.S511S|KANK2_uc002mqp.1_Silent_p.S320S	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	511										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGTCCTCGGATGACGACTCAT	0.602000														34			8		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157773887	157773887	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:157773887C>T	uc001frg.3	-	2	180	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Missense_Mutation_p.A23T|FCRL1_uc001fri.3_Missense_Mutation_p.A23T|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	23	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GAGGGGCTGGCTATCAAAAAC	0.483000														58			29		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149270450	149270450	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:149270450C>T	uc002twm.4	+	14	5422	c.4425C>T	c.(4423-4425)atC>atT	p.I1475I	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_Silent_p.I733I|MBD5_uc002twp.3_Silent_p.I525I	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1475						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TACACCAAATCCCACAGGGTG	0.418000														37			12		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178408714	178408714	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:178408714C>T	uc003mjr.3	-	9	2757	c.2578G>A	c.(2578-2580)Gcc>Acc	p.A860T	GRM6_uc003mjq.3_Missense_Mutation_p.A263T	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	860					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTGGAGGTGGCCTTGAGGCTC	0.607000														29			42		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42052717	42052717	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:42052717T>A	uc010ucy.2	+	19	7569	c.7388T>A	c.(7387-7389)aTt>aAt	p.I2463N	MGA_uc010ucz.2_Missense_Mutation_p.I2254N|MGA_uc010uda.1_Missense_Mutation_p.I1079N	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2424						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AAAAGTCTCATTCTTACTCGA	0.408000														24			21		0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54444846	54444846	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:54444846G>A	uc002qcr.2	+	3	642	c.547G>A	c.(547-549)Gct>Act	p.A183T	CACNG7_uc010era.2_Missense_Mutation_p.A183T	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	183					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TGCCTTCGCCGCTTCCTCCTT	0.537000														42			40		0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26883947	26883947	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:26883947G>A	uc002hbo.2	-	8	1351	c.978C>T	c.(976-978)ctC>ctT	p.L326L	PIGS_uc002hbn.2_Silent_p.L318L|PIGS_uc010wap.1_Silent_p.L265L	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.	326					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CAGGCACGTAGAGTAGAAAGT	0.532000														19			17		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103126682	103126682	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr7:103126682C>T	uc022ajr.1	-	60	10105	c.9945G>A	c.(9943-9945)agG>agA	p.R3315R	RELN_uc022ajq.1_Silent_p.R3315R|RELN_uc010liz.3_Silent_p.R3315R|RN7SK_uc022ajs.1_5'Flank	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3315					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAGCTGCTTGCCTGATCTGAC	0.512000														40			30		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86808062	86808062	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:86808062G>A	uc002blz.1	+	9	1602	c.1522G>A	c.(1522-1524)Gtc>Atc	p.V508I	AGBL1_uc002bma.1_Missense_Mutation_p.V239I|AGBL1_uc002bmb.1_Missense_Mutation_p.V202I	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	508					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AAAATGTGGAGTCCAAAGGTG	0.433000														24			17		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182360570	182360570	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:182360570G>A	uc002unu.3	+	13	2209	c.1446G>A	c.(1444-1446)acG>acA	p.T482T	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	482					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.R481K(1)|p.R481G(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAAATAGAACGAAATTTGACT	0.388000														42			21		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089089	9089089	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:9089089G>A	uc002mkp.3	-	0	2930	c.2726C>T	c.(2725-2727)gCt>gTt	p.A909V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	909	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGAACTGAGCTGAACGTGT	0.512000														9			12		0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306448	2306448	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:2306448G>A	uc003gex.2	-	7	1939	c.1619C>T	c.(1618-1620)cCc>cTc	p.P540L	ZFYVE28_uc011bvk.2_Missense_Mutation_p.P470L|ZFYVE28_uc011bvl.2_Missense_Mutation_p.P510L|ZFYVE28_uc003gew.2_Missense_Mutation_p.P426L	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	540					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CTCGGCCACGGGCTCCGAGGC	0.667000														24			6		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841937	94841937	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:94841937G>A	uc002btj.3	+	0	508	c.443G>A	c.(442-444)gGg>gAg	p.G148E	MCTP2_uc010urg.1_Missense_Mutation_p.G148E|MCTP2_uc002bti.2_Missense_Mutation_p.G148E|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.G148E|MCTP2_uc002btg.4_Missense_Mutation_p.G148E|MCTP2_uc002bth.4_Missense_Mutation_p.G148E	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	148					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCCCTTGGAGGGGATGCACCA	0.532000														48			33		0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67940184	67940184	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chrX:67940184C>T	uc004dxb.3	+	7	2182	c.1968C>T	c.(1966-1968)atC>atT	p.I656I	STARD8_uc004dxa.3_Silent_p.I576I|STARD8_uc004dxc.4_Silent_p.I576I	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	576	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CACCCCTCATCCACGTGCAGC	0.597000														3			13		0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	120008570	120008570	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:120008570C>T	uc001pwz.3	-	0	294	c.170G>A	c.(169-171)gGc>gAc	p.G57D	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	57					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CAGGGCGCTGCCCAGGCTCTT	0.662000														74			6		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666697	12666697	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:12666697C>T	uc002gno.2	+	13	2996	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	MYOCD_uc002gnn.2_Silent_p.F851F|MYOCD_uc002gnq.2_Silent_p.F575F	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	851					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AAGACCTCTTCAATGCACATG	0.483000														18			14		0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111648282	111648282	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr10:111648282C>T	uc001kyp.2	-	5	607	c.487G>A	c.(487-489)Gac>Aac	p.D163N	XPNPEP1_uc009xxt.2_Missense_Mutation_p.D163N|XPNPEP1_uc001kyq.2_Missense_Mutation_p.D49N|XPNPEP1_uc010qrb.2_Missense_Mutation_p.D163N	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	120					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		ATCAAGGGGTCCACACCAACC	0.498000														2			7		0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77423956	77423956	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr12:77423956G>A	uc001sym.4	-	9	1775	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	E2F7_uc009zse.3_5'UTR	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	513					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CGTTCTGCATGGAGAATGCCT	0.522000														22			38		0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25486802	25486802	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr13:25486802T>C	uc001upt.4	-	1	615	c.362A>G	c.(361-363)aAc>aGc	p.N121S	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	121					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GTCATTTTTGTTTTCTTCCTG	0.428000														50			46		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287330	202287330	+	Silent	SNP	A	C	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:202287330A>C	uc001gxu.3	+	17	1899	c.1899A>C	c.(1897-1899)ggA>ggC	p.G633G	LGR6_uc001gxv.3_Silent_p.G581G|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.G494G	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	633						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CTGAGTACGGAGCCCGCTGGG	0.622000														18			9		0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr10:51093329C>T	uc001jih.3	-	8	1891	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T	PARG_uc009xoj.3_Missense_Mutation_p.A135T|PARG_uc001jif.3_Missense_Mutation_p.A584T|PARG_uc001jig.3_Missense_Mutation_p.A170T|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Missense_Mutation_p.A475T|PARG_uc010qgx.2_Missense_Mutation_p.A502T	NM_003631	NP_003622	Q86W56	PARG_HUMAN	Homo sapiens poly (ADP-ribose) glycohydrolase (PARG), mRNA.	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(2)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000														29			3		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41605892	41605892	+	Splice_Site	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr4:41605892G>A	uc003gvz.4	+	3	285	c.-132_splice	c.e3-1		LIMCH1_uc003gvt.1_Splice_Site|LIMCH1_uc003gwe.4_Splice_Site_p.K115_splice|LIMCH1_uc003gvu.4_Splice_Site_p.K115_splice|LIMCH1_uc003gvv.4_Splice_Site_p.K115_splice|LIMCH1_uc003gvw.4_Splice_Site_p.K115_splice|LIMCH1_uc003gvx.4_Splice_Site_p.K115_splice|LIMCH1_uc003gvy.4_Splice_Site|LIMCH1_uc003gwa.4_Intron	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.						actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCTTGACTAGGAGCCTTGATT	0.323000														15			12		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					31			37		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159897973	159897973	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:159897973C>T	uc001fur.2	-	18	3403	c.3205G>A	c.(3205-3207)Gag>Aag	p.E1069K	IGSF9_uc001fuq.2_Missense_Mutation_p.E1053K|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Missense_Mutation_p.E215K	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	1069						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCACATGCTCCCTTCGGGGC	0.662000														58			75		0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816398	1816398	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr16:1816398C>G	uc010uvl.2	+	21	2927	c.2807C>G	c.(2806-2808)cCc>cGc	p.P936R	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.P935R|MAPK8IP3_uc002cml.3_Missense_Mutation_p.P925R|MAPK8IP3_uc021tah.1_Missense_Mutation_p.P929R	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	935					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCCTCTGGCCCCCAGCCTGGC	0.697000														20			13		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61012746	61012746	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr10:61012746C>T	uc010qif.1	-	11	1477	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N	FAM13C_uc010qid.2_Missense_Mutation_p.D365N|FAM13C_uc001jkn.3_Missense_Mutation_p.D449N|FAM13C_uc001jko.3_Missense_Mutation_p.D351N|FAM13C_uc010qie.2_Missense_Mutation_p.D366N	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	449										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCATCAGAGTCCTCTTCCTCC	0.463000														6			18		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96797060	96797060	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr10:96797060C>T	uc001kkb.3	-	8	1393	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	CYP2C8_uc010qoa.2_Missense_Mutation_p.R363Q|CYP2C8_uc010qoc.2_Missense_Mutation_p.R331Q|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.R347Q|CYP2C8_uc021pwl.1_Missense_Mutation_p.R363Q	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	433					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	p.K432_G437delKRICAG(2)|p.R433Q(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGCACAAATTCGTTTTCCTGA	0.363000														2			17		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17690148	17690148	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:17690148C>T	uc001baj.2	+	15	1918	c.1890C>T	c.(1888-1890)atC>atT	p.I630I		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	630					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GCACCTTCATCAACGACTTCT	0.612000														23			8		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234851231	234851231	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr2:234851231C>T	uc002vvh.3	+	5	578	c.538C>T	c.(538-540)Ctc>Ttc	p.L180F	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Missense_Mutation_p.L130F|TRPM8_uc002vvj.3_Missense_Mutation_p.L103F	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	180						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGCTTGGATTCTCACGGGAGG	0.493000														42			12		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80039897	80039897	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:80039897C>T	uc002kdu.3	-	35	6268	c.6151G>A	c.(6151-6153)Gaa>Aaa	p.E2051K	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2051	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGGAGGCCTTCGTGCCGGCGT	0.672000														30			3		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1887145	1887146	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr1:1887145_1887146CC>TT	uc001aim.1	-	17	2316_2317	c.2160_2161GG>AA	c.(2158-2163)gaggag>gaAAag	p.E721K	KIAA1751_uc009vkz.1_Missense_Mutation_p.E721K	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	721										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GGCTGCTCCTCCTCCTGCTCCT	0.698000														34			9		0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46306885	46306885	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:46306885C>T	uc003cpl.2	+	2	1366	c.335C>T	c.(334-336)tCg>tTg	p.S112L	CCR3_uc003cpg.2_Missense_Mutation_p.S79L|CCR3_uc003cpk.2_Missense_Mutation_p.S100L|CCR3_uc003cpi.2_Missense_Mutation_p.S79L|CCR3_uc010hjb.2_Missense_Mutation_p.S97L|CCR3_uc003cpj.2_Missense_Mutation_p.S79L|CCR3_uc021wwz.1_Missense_Mutation_p.S79L	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	79					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CTGGCCATTTCGGACCTGCTC	0.512000														67			24		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76476804	76476805	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:76476804_76476805GG>AA	uc010dhp.2	-	48	7838_7839	c.7713_7714CC>TT	c.(7711-7716)aacccc>aaTTcc	p.P2572S		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCGGAAGTGGGGTTCATGCAGG	0.510000														21			5		0	0	1	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021151	46021151	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr21:46021151G>A	uc002zfn.4	+	1	640	c.615G>A	c.(613-615)acG>acA	p.T205T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	210	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCTCCTGCACGCCCTCGTGCT	0.667000														93			4		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157364156	157364156	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr7:157364156G>A	uc003wno.3	-	19	2934	c.2813C>T	c.(2812-2814)tCt>tTt	p.S938F	PTPRN2_uc003wnp.3_Missense_Mutation_p.S921F|PTPRN2_uc003wnq.3_Missense_Mutation_p.S909F|PTPRN2_uc003wnr.3_Missense_Mutation_p.S900F|PTPRN2_uc011kwa.2_Missense_Mutation_p.S961F	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	938	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TATTGGACAAGAACGGCCCCT	0.313000														52			25		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25399880	25399880	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr13:25399880G>A	uc001upr.3	+	15	2256	c.2215G>A	c.(2215-2217)Gat>Aat	p.D739N	RNF17_uc010tdd.1_Missense_Mutation_p.D598N|RNF17_uc010tde.2_Missense_Mutation_p.D739N|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.D678N	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	739	Tudor 1.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TAAATTTGAAGATGGAATTTG	0.373000														56			19		0	0	1	0	0
FGF3	2248	broad.mit.edu	37	11	69625109	69625109	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr11:69625109C>T	uc001oph.3	-	2	1175	c.684G>A	c.(682-684)tcG>tcA	p.S228S		NM_005247	NP_005238	P11487	FGF3_HUMAN	Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.	228					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGCCCAGTCTCGAAGCCTGAA	0.677000														10			3		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26822696	26822696	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:26822696G>A	uc010wan.2	+	9	1546	c.1479G>A	c.(1477-1479)ctG>ctA	p.L493L	SLC13A2_uc010wam.2_Silent_p.L400L|SLC13A2_uc002hbh.3_Silent_p.L444L|SLC13A2_uc010wao.2_Silent_p.L401L|SLC13A2_uc002hbi.3_Silent_p.L373L	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	444						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGAGTGGCTGGGAAACAAGC	0.622000														58			41		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345076	20345076	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr14:20345076C>T	uc001vwh.1	+	0	650	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTATTTAATTCATATGTTATT	0.383000														172			62		0	0	1	0	0
KLHL25	64410	broad.mit.edu	37	15	86311959	86311959	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr15:86311959G>A	uc002bly.3	-	1	1286	c.1083C>T	c.(1081-1083)taC>taT	p.Y361Y	KLHL25_uc021stw.1_Silent_p.Y361Y	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	Homo sapiens kelch-like 25 (Drosophila) (KLHL25), mRNA.	361						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GTACGGTGTCGTACACCCAGA	0.632000														28			6		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31678525	31678525	+	Silent	SNP	C	T	T			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:31678525C>T	uc010zue.2	+	7	1078	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	355						cytoplasm|extracellular region	lipid binding										TCTGATTCCTCTGGGGATATT	0.592000														21			23		0	0	1	0	0
C5orf64	285668	broad.mit.edu	37	5	60999726	60999726	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr5:60999726G>A	uc003jst.1	+	3	334	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_173667	NP_775938	Q2M2E5	CE064_HUMAN	Homo sapiens chromosome 5 open reading frame 64 (C5orf64), mRNA.	87						extracellular region				breast(1)	1						ATGTGTAGGAGAATATGGACC	0.378000														4			3		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126734107	126734107	+	Silent	SNP	G	A	A			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr3:126734107G>A	uc003ejg.3	+	13	2958	c.2958G>A	c.(2956-2958)ctG>ctA	p.L986L		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	986	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GAAGCCACCTGAACGCAGGCA	0.667000														37			19		0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59533898	59533898	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr17:59533898delC	uc010ddo.3	+	1	210	c.47delC	c.(46-48)gccfs	p.A16fs	TBX4_uc002izi.3_Frame_Shift_Del_p.A16fs|TBX4_uc010woy.2_Frame_Shift_Del_p.A16fs	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	16					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCCTTCCGGGCCCCGGGCCCA	0.736													---	4	---	---	2	---					
AP2A1	160	broad.mit.edu	37	19	50308808	50308808	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr19:50308808delC	uc002ppn.3	+	19	2720	c.2509delC	c.(2509-2511)cccfs	p.P837fs	AP2A1_uc002ppo.3_Frame_Shift_Del_p.P815fs|AP2A1_uc010enk.3_5'UTR	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	837					Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CTTCCTGACGCCCCCGCTGCT	0.706													---	4	---	---	2	---					
MAVS	57506	broad.mit.edu	37	20	3844977	3844978	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chr20:3844977_3844978insC	uc002wjw.4	+	5	872_873	c.700_701insC	c.(700-702)accfs	p.T234fs	MAVS_uc002wjx.4_Frame_Shift_Ins_p.T93fs|MAVS_uc002wjy.4_5'UTR	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	234					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGCCCGTTCCACCCCCAGGGCA	0.629													---	54	---	---	38	---					
ZMYM3	9203	broad.mit.edu	37	X	70469363	70469363	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EB-A4P0-01A-41D-A25O-08	TCGA-EB-A4P0-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54FE99E1-0683-48A5-886E-3B70C64FE1FC	933A1479-B578-4D01-952E-938103C1FB6F	g.chrX:70469363delT	uc004dzh.2	-	6	1597	c.1418delA	c.(1417-1419)gagfs	p.E473fs	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Frame_Shift_Del_p.E473fs|ZMYM3_uc004dzj.2_Frame_Shift_Del_p.E473fs|ZMYM3_uc011mpu.2_Frame_Shift_Del_p.E204fs|ZMYM3_uc004dzl.4_Frame_Shift_Del_p.E473fs	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	473					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGTTGGCCCTCGTGGAAGAG	0.582													---	4	---	---	2	---