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
SMAD7	4092	broad.mit.edu	37	18	46447842	46447842	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:46447842G>A	uc002ldg.3	-	3	1468	c.1181C>T	c.(1180-1182)aCc>aTc	p.T394I	SMAD7_uc002ldf.3_Missense_Mutation_p.T206I|SMAD7_uc010xde.2_Missense_Mutation_p.T179I|SMAD7_uc021ujr.1_Missense_Mutation_p.T393I	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	394	MH2.				BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					GATCTGCACGGTAAAGCCCGT	0.587000														72			6		0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23523587	23523587	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr22:23523587C>T	uc002zww.3	+	0	1036	c.440C>T	c.(439-441)cCc>cTc	p.P147L	BCR_uc002zwx.3_Missense_Mutation_p.P147L	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	147	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GACCGGGGACCCCCCGCCAGC	0.761000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									57			5		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40903059	40903059	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:40903059G>A	uc002onr.3	-	6	1469	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	PRX_uc002onq.3_Silent_p.L261L|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	400					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGGCTCCAAGAGGGAAAGCC	0.607000														177			14		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112600868	112600868	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:112600868G>A	uc021reb.1	-	74	13092	c.12696C>T	c.(12694-12696)atC>atT	p.I4232I		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CTGGGGGGGCGATCTTCATGG	0.627000														151			19		0	0	1	0	0
NHEJ1	79840	broad.mit.edu	37	2	219942832	219942832	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:219942832C>T	uc002vjp.4	-	5	831	c.685G>A	c.(685-687)Gga>Aga	p.G229R	NHEJ1_uc002vjq.4_Non-coding_Transcript	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	Homo sapiens nonhomologous end-joining factor 1 (NHEJ1), mRNA.	229					B cell differentiation|DNA recombination|T cell differentiation|central nervous system development|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		TGCTTCTGTCCCACTTGGACC	0.488000								Non-homologous end-joining						67			4		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123615768	123615768	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:123615768C>T	uc010nqy.3	-	21	3827	c.3763G>A	c.(3763-3765)Gaa>Aaa	p.E1255K	ODZ1_uc011muj.2_Missense_Mutation_p.E1254K|ODZ1_uc004euj.3_Missense_Mutation_p.E1248K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1248					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TAGAGTGATTCAGACACAGGG	0.418000														135			15		0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22141766	22141766	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:22141766C>T	uc003xbn.2	+	5	872	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	PIWIL2_uc011kzf.1_Nonsense_Mutation_p.Q242*|PIWIL2_uc010ltv.2_Nonsense_Mutation_p.Q242*	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	242					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGCAGTTTATCAATATCATGT	0.358000														55			6		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112691908	112691908	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:112691908T>C	uc021reb.1	-	21	3350	c.2954A>G	c.(2953-2955)aAc>aGc	p.N985S	C12orf51_uc010syk.1_Missense_Mutation_p.N529S|C12orf51_uc001tts.2_Missense_Mutation_p.N520S|C12orf51_uc001ttt.3_Missense_Mutation_p.N518S	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TCCCAGTGTGTTGCCTCCATA	0.413000														105			11		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288863	125288863	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:125288863G>A	uc004bmn.1	-	0	710	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACTGCAGGTGGAAAAGGCCTT	0.537000														94			6		0	0	1	0	0
PALM	5064	broad.mit.edu	37	19	746337	746337	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:746337C>T	uc002lpm.1	+	8	881	c.687C>T	c.(685-687)tcC>tcT	p.S229S	PALM_uc002lpn.1_Silent_p.S185S|PALM_uc010xfu.1_Silent_p.S94S	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	229					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CCCTGAGCTCCTCCGAGGTGG	0.667000														73			9		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845734	107845734	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:107845734C>T	uc003hyi.3	-	2	1202	c.497G>A	c.(496-498)gGa>gAa	p.G166E	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.G166E	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	166					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space		p.G166R(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTGTGGTCTTCCTAGATTCTG	0.393000														188			13		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113400697	113400697	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:113400697C>T	uc001tug.3	+	8	2161	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	692	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGGCCAGCTTCGAAAACCCAG	0.567000														381			46		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17698260	17698260	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:17698260C>T	uc002grm.3	+	2	2467	c.1998C>T	c.(1996-1998)gcC>gcT	p.A666A	RAI1_uc002grn.1_Silent_p.A666A	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	666						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGCCGGAGGCCCTGCCCGACT	0.657000														84			8		0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10396092	10396092	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:10396092G>A	uc003wta.3	+	4	888	c.848G>A	c.(847-849)gGg>gAg	p.G283E	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Intron|PRSS55_uc003wtb.3_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	283	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AACACCCCAGGGATATACACC	0.547000														140			11		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10354649	10354649	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:10354649C>T	uc002gmn.3	-	27	3970	c.3859G>A	c.(3859-3861)Gaa>Aaa	p.E1287K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1287					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGACCTGATTCTGTGTGTAAA	0.413000														102			6		0	0	1	0	0
KCNE1	3753	broad.mit.edu	37	21	35821548	35821548	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr21:35821548G>A	uc021wit.1	-	0	385	c.385C>T	c.(385-387)Cca>Tca	p.P129S	KCNE1_uc010gmp.3_Missense_Mutation_p.P129S|KCNE1_uc002ytz.3_Missense_Mutation_p.P129S|KCNE1_uc010gmq.3_Missense_Mutation_p.P129S|KCNE1_uc010gmr.3_Missense_Mutation_p.P129S|KCNE1_uc010gms.3_Missense_Mutation_p.P129S|KCNE1_uc002yua.3_Non-coding_Transcript	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA.	129					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity	p.S128S(1)		large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	GGGGTTCATGGGGAAGGCTTC	0.507000														255			28		0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150471474	150471474	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:150471474C>T	uc001euq.3	+	11	1510	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Silent_p.F419F|TARS2_uc009wlt.3_Silent_p.F127F|TARS2_uc009wls.3_Silent_p.F371F	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	501					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CATCTGGCTTCCTGGGGGACC	0.552000														158			14		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216270537	216270537	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:216270537C>T	uc001hku.1	-	21	5033	c.4646G>A	c.(4645-4647)cGa>cAa	p.R1549Q		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1549	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACTTTTGTTCGAAAGCTGGC	0.388000										HNSCC(13;0.011)				60			8		0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518361	84518361	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:84518361G>A	uc010ffz.1	+	0	556	c.419G>A	c.(418-420)gGa>gAa	p.G140E						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		GTGACTGGGGGATTTTTCGGA	0.463000														184			16		0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135047828	135047828	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:135047828G>A	uc011kpy.2	-	11	2282	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S	CNOT4_uc011kpz.2_Missense_Mutation_p.P648S|CNOT4_uc003vst.3_Missense_Mutation_p.P580S|CNOT4_uc003vss.3_Missense_Mutation_p.P577S	NM_001190850	NP_001177779	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 6, mRNA.	315					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTCTGTGATGGAGCAGCGCTG	0.557000														232			19		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49381132	49381132	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:49381132G>A	uc001jgi.3	-	24	3411	c.3080C>T	c.(3079-3081)gCa>gTa	p.A1027V	FRMPD2_uc001jgh.3_Missense_Mutation_p.A995V|FRMPD2_uc001jgj.3_Missense_Mutation_p.A996V|FRMPD2_uc001jgf.3_Missense_Mutation_p.A38V|FRMPD2_uc001jgg.3_5'UTR|FRMPD2_uc001jgk.3_5'UTR	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	1027	PDZ 2.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GACCAGTCTTGCAACCTAGAA	0.463000														89			5		0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200376666	200376666	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:200376666G>A	uc001gve.3	-	1	2275	c.2168C>T	c.(2167-2169)tCt>tTt	p.S723F	ZNF281_uc001gvf.1_Missense_Mutation_p.S723F|ZNF281_uc001gvg.1_Missense_Mutation_p.S687F|ZNF281_uc021phb.1_Missense_Mutation_p.S723F	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	Homo sapiens zinc finger protein 281 (ZNF281), mRNA.	723					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGAGGTAACAGATTGGCCGAA	0.428000														125			7		0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54646886	54646886	+	Silent	SNP	C	T	T	rs138664639		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:54646886C>T	uc002qdj.2	+	2	381	c.57C>T	c.(55-57)tcC>tcT	p.S19S	CNOT3_uc010yel.2_Silent_p.S19S|CNOT3_uc002qdi.3_5'UTR|CNOT3_uc002qdk.2_Silent_p.S19S|CNOT3_uc010ere.2_5'Flank	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	19					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGAAGGTGTCCGAGGGCGTGG	0.552000														284			12		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634464	180634464	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:180634464G>A	uc002unn.4	-	2	623	c.19C>T	c.(19-21)Cta>Tta	p.L7L		NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	7						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			AAGCCCCGTAGAAAATTTGCC	0.408000														91			9		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807159	143807159	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:143807159C>T	uc011ktz.2	+	0	484	c.484C>T	c.(484-486)Ctt>Ttt	p.L162F		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L162I(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGAAATTCTCCTTCTAAGGTT	0.527000														179			14		0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801832	9801832	+	Missense_Mutation	SNP	C	T	T	rs62105698	by1000genomes	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:9801832C>T	uc021uop.1	-	5	993	c.347G>A	c.(346-348)gGt>gAt	p.G116D	ZNF812_uc010xkx.2_Missense_Mutation_p.G12D	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	116	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATAACAATTACCCTCAAAGAT	0.413000														56			6		0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987431	22987431	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:22987431G>A	uc001bgd.3	+	2	446	c.314G>A	c.(313-315)gGa>gAa	p.G105E		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	105	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGGCCCCTGGAGCCCCAGGC	0.632000														115			8		0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	812724	812724	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:812724C>T	uc002cjw.2	+	1	155	c.44C>T	c.(43-45)aCc>aTc	p.T15I	MSLN_uc002cju.1_Missense_Mutation_p.T15I|MSLN_uc002cjt.1_Missense_Mutation_p.T15I|MSLN_uc010brd.1_Missense_Mutation_p.T15I	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	15				TPAL -> DRP (in Ref. 2; AAC50348).	cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TCCTGTGGGACCCCCGCCCTC	0.687000														253			20		0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185698103	185698103	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:185698103G>A	uc003iww.2	-	5	806	c.512C>T	c.(511-513)tCg>tTg	p.S171L	ACSL1_uc011ckm.1_5'UTR|ACSL1_uc003iwt.1_Missense_Mutation_p.S171L|ACSL1_uc003iwu.1_Missense_Mutation_p.S171L|ACSL1_uc011ckn.1_Missense_Mutation_p.S137L	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	171					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GATCACCATCGAATAAGCAAA	0.393000														37			6		0	0	1	0	0
HEMK1	51409	broad.mit.edu	37	3	50617645	50617645	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:50617645G>A	uc003dau.3	+	9	1261	c.965G>A	c.(964-966)aGg>aAg	p.R322K	HEMK1_uc003dav.3_Missense_Mutation_p.R322K	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN	Homo sapiens HemK methyltransferase family member 1 (HEMK1), mRNA.	322					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		GCTGTGCGCAGGGACTTCTGT	0.572000														90			10		0	0	1	0	0
RAB4A	5867	broad.mit.edu	37	1	229433301	229433301	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:229433301C>T	uc001hth.3	+	4	571	c.363C>T	c.(361-363)atC>atT	p.I121I		NM_004578	NP_004569	P20338	RAB4A_HUMAN	Homo sapiens RAB4A, member RAS oncogene family (RAB4A), mRNA.	116							GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				ACATTGTGATCATCCTTTGTG	0.413000														152			17		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40790158	40790158	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:40790158G>A	uc002xkg.3	-	16	2700	c.2516C>T	c.(2515-2517)tCc>tTc	p.S839F	PTPRT_uc010ggj.3_Missense_Mutation_p.S858F|PTPRT_uc010ggi.3_Missense_Mutation_p.S42F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	839					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGTGGGCTGGGAAAGCTCCCC	0.597000														92			21		0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127811009	127811009	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:127811009C>T	uc002tns.2	-	13	1636	c.1252G>A	c.(1252-1254)Gac>Aac	p.D418N	BIN1_uc010yzf.2_Intron|BIN1_uc002tnt.2_Intron|BIN1_uc010yzg.2_Intron|BIN1_uc002tnu.2_Intron|BIN1_uc002tnv.2_Missense_Mutation_p.D375N|BIN1_uc002tnw.2_Intron|BIN1_uc002tnx.2_Intron|BIN1_uc002tny.2_Intron|BIN1_uc002tnz.2_Intron|BIN1_uc002toa.2_Intron|BIN1_uc002tob.2_Intron|BIN1_uc002toc.2_Intron	NM_139343	NP_647593	O00499	BIN1_HUMAN	Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA.	418	Clathrin-binding.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCCCAGAGGTCCCATGGAATT	0.607000														39			6		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559463	140559463	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140559463C>T	uc011dai.2	+	0	2093	c.1848C>T	c.(1846-1848)ttC>ttT	p.F616F	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	616	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGGCTGTTCGGTGTGTGGG	0.692000														108			13		0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106066414	106066414	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:106066414G>A	uc001yrw.1	-	4	1330	c.1318C>T	c.(1318-1320)Ccc>Tcc	p.P440S	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.P387S|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_Non-coding_Transcript					RecName: Full=Ig epsilon chain C region;																		CATTTACCGGGATTTACAGAC	0.597000														143			15		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526279	189526280	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:189526279_189526280CC>TT	uc003fry.2	+	3	632_633	c.543_544CC>TT	c.(541-546)ttccag>ttTTag	p.Q182*	TP63_uc003frx.2_Nonsense_Mutation_p.Q182*|TP63_uc003frz.2_Nonsense_Mutation_p.Q182*|TP63_uc010hzc.1_Nonsense_Mutation_p.Q182*|TP63_uc003fsa.2_Nonsense_Mutation_p.Q88*|TP63_uc003fsb.2_Nonsense_Mutation_p.Q88*|TP63_uc003fsc.2_Nonsense_Mutation_p.Q88*|TP63_uc003fsd.2_Nonsense_Mutation_p.Q88*|TP63_uc021xir.1_Nonsense_Mutation_p.Q88*|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Nonsense_Mutation_p.Q63*	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	182					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACGTGTCCTTCCAGCAGTCGAG	0.634000										HNSCC(45;0.13)				109			10		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49446159	49446159	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:49446159G>A	uc001jgi.3	-	7	1127	c.796C>T	c.(796-798)Cca>Tca	p.P266S	FRMPD2_uc001jgh.3_Missense_Mutation_p.P235S|FRMPD2_uc001jgj.3_Missense_Mutation_p.P235S	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	266					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTGCTCCTGGAAGAGCGCTG	0.617000														68			12		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45767374	45767374	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr22:45767374C>T	uc003bgc.3	-	13	2342	c.2290G>A	c.(2290-2292)Gaa>Aaa	p.E764K	SMC1B_uc003bgd.3_Missense_Mutation_p.E764K|SMC1B_uc003bge.1_Missense_Mutation_p.E547K	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	764					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTTGAAATTCTTTAATTCTT	0.294000														43			5		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32718649	32718649	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:32718649C>T	uc010ezu.3	+	44	8517	c.8383C>T	c.(8383-8385)Cga>Tga	p.R2795*		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2795					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATTTCTTACTCGATTACAAGT	0.323000														63			6		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75828803	75828803	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:75828803G>A	uc021zbv.1	-	44	7345	c.7310C>T	c.(7309-7311)tCc>tTc	p.S2437F	COL12A1_uc021zbw.1_Missense_Mutation_p.S1273F|COL12A1_uc003phs.3_Missense_Mutation_p.S2437F|COL12A1_uc003pht.3_Missense_Mutation_p.S1273F	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2437	VWFA 4.				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						CTCATCCTGGGACCGACCGTC	0.473000														120			6		0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31827627	31827627	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:31827627C>T	uc002wyt.4	+	3	409	c.339C>T	c.(337-339)ccC>ccT	p.P113P	BPIFA1_uc002wyu.4_Silent_p.P113P|BPIFA1_uc002wyv.3_Silent_p.P113P	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.	113					innate immune response	extracellular region	lipid binding										TCACTGACCCCCAGCTGCTGG	0.517000														376			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412733	179412733	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:179412733T>C	uc021vsy.1	-	287	86141	c.85916A>G	c.(85915-85917)aAg>aGg	p.K28639R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K22334R|TTN_uc021vta.1_Missense_Mutation_p.K22267R|TTN_uc021vtb.1_Missense_Mutation_p.K22142R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29566	Fibronectin type-III 108.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGAGGCTCCTTAATGATGAC	0.448000														95			8		0	0	1	0	0
AKR1A1	10327	broad.mit.edu	37	1	46033816	46033816	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:46033816C>T	uc021omx.1	+	6	937	c.519C>T	c.(517-519)ctC>ctT	p.L173L	AKR1A1_uc021omy.1_Silent_p.L173L|AKR1A1_uc001cod.3_Silent_p.L173L|AKR1A1_uc001coe.3_Silent_p.L173L|AKR1A1_uc001cof.3_Missense_Mutation_p.S46L	NM_001202414	NP_001189343	P14550	AK1A1_HUMAN	Homo sapiens aldo-keto reductase family 1, member A1 (aldehyde reductase) (AKR1A1), transcript variant 3, mRNA.	173					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					ATGACATACTCAGTGTGGCCT	0.567000														38			5		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33608285	33608285	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:33608285G>A	uc021ywr.1	+	1	338	c.114G>A	c.(112-114)gtG>gtA	p.V38V		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	38					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCTGTGTGGTGGAGCCCGCGG	0.637000														290			40		0	0	1	0	0
FAM86FP	653113	broad.mit.edu	37	12	8384474	8384474	+	RNA	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:8384474C>T	uc010sgk.2	-	4		c.1314G>A								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		TGGCCAGAAGCTGAAATGACG	0.577000														46			15		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78380232	78380232	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:78380232C>T	uc001ozl.4	-	31	7621	c.7158G>A	c.(7156-7158)ggG>ggA	p.G2386G	ODZ4_uc001ozk.4_Silent_p.G611G	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2386					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGTAGATCTCCCCATAGGCTG	0.488000														53			4		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995253	140995253	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:140995253C>T	uc004fbt.3	+	3	2387	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S347F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	688							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)					GGGGAGGATTCCCTGTCTCCT	0.572000										HNSCC(15;0.026)				211			28		0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5790260	5790260	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:5790260G>A	uc002mdc.3	-	1	282	c.185C>T	c.(184-186)cCt>cTt	p.P62L	DUS3L_uc002mdd.3_Intron|DUS3L_uc010xiw.1_Non-coding_Transcript	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	62					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						ATTGCCAGCAGGGTCTCCTAC	0.612000														126			15		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34090712	34090712	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:34090712G>A	uc001bxm.1	-	33	5616	c.5439C>T	c.(5437-5439)atC>atT	p.I1813I	CSMD2_uc001bxn.1_Silent_p.I1773I|CSMD2_uc001bxo.1_Silent_p.I686I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1773	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAGGCACTCGATCTCTGGCG	0.657000														110			8		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56549454	56549454	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:56549454C>T	uc002qmj.3	+	9	2679	c.2679C>T	c.(2677-2679)tcC>tcT	p.S893S	NLRP5_uc002qmi.3_Silent_p.S874S	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	893						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)		TTACGACCTCCCCCAGCCTGA	0.547000														107			6		0	0	1	0	0
METTL19	152992	broad.mit.edu	37	4	8465751	8465751	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:8465751G>T	uc003glg.2	+	6	1261	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	METTL19_uc003glf.1_Missense_Mutation_p.D174Y|METTL19_uc003glh.1_Missense_Mutation_p.D23Y	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.	415					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding			kidney(1)|lung(6)|ovary(3)|prostate(1)	11						CCTTTTCCCTGATGTTGATTG	0.423000														187			18		8.00594e-06	8.04922e-06	1	1	0
LAS1L	81887	broad.mit.edu	37	X	64737875	64737875	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:64737875A>G	uc004dwa.2	-	11	2010	c.1919T>C	c.(1918-1920)gTt>gCt	p.V640A	LAS1L_uc004dwc.2_Missense_Mutation_p.V623A|LAS1L_uc004dwd.2_Missense_Mutation_p.V581A|LAS1L_uc004dvz.2_Missense_Mutation_p.V153A|LAS1L_uc004dvy.1_Missense_Mutation_p.V153A	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	640						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ACCTGAGCTAACCTGCCATGC	0.532000														56			7		0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35481510	35481510	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr22:35481510G>A	uc003anj.3	+	3	1513	c.562G>A	c.(562-564)Gct>Act	p.A188T		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	188						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S187S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						TTGTCCATCGGCTCAAGATCA	0.617000														208			18		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47667058	47667058	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:47667058G>A	uc003gxm.3	-	10	1673	c.1580C>T	c.(1579-1581)cCt>cTt	p.P527L	CORIN_uc011bzf.2_Missense_Mutation_p.P388L|CORIN_uc011bzg.2_Missense_Mutation_p.P460L|CORIN_uc011bzh.1_Missense_Mutation_p.P490L|CORIN_uc011bzi.1_Missense_Mutation_p.P490L	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	527	FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CCTGCAAGGAGGGATATGCTC	0.418000														49			7		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702188	81702188	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:81702188C>T	uc001kbh.3	-	3	432	c.389G>A	c.(388-390)gGa>gAa	p.G130E		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	130	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GCCCTGAGGTCCTATGTTCCC	0.612000														63			11		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940632	22940632	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:22940632C>T	uc021urt.1	-	3	2234	c.2079G>A	c.(2077-2079)agG>agA	p.R693R		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTATGTTTCCTAAGGGCTG	0.373000														57			6		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450730	41450730	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr21:41450730G>A	uc002yyq.1	-	25	5047	c.4595C>T	c.(4594-4596)tCc>tTc	p.S1532F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1532	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGGATGTAGGACTTGGAGAG	0.582000														43			4		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981382	7981382	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:7981382C>T	uc001mfv.1	-	1	1794	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	593							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATTTCTTTTCATTTGAATGT	0.368000														46			4		0	0	1	0	0
METTL19	152992	broad.mit.edu	37	4	8469765	8469765	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:8469765C>T	uc003glg.2	+	8	1637	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F	METTL19_uc003glf.1_Missense_Mutation_p.S299F|METTL19_uc003glh.1_Missense_Mutation_p.S148F	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.	540					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding			kidney(1)|lung(6)|ovary(3)|prostate(1)	11						TGGGAGCTTTCCCCTTCTCCA	0.607000														69			7		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21878027	21878027	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:21878027G>A	uc001war.2	-	9	2412	c.2347C>T	c.(2347-2349)Cca>Tca	p.P783S	CHD8_uc001was.2_Missense_Mutation_p.P504S|CHD8_uc001wav.1_5'UTR	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	783	Chromo 2.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTGAGTTCTGGGTGCCTTGAC	0.373000														76			6		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343781	248343781	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:248343781C>T	uc010pzf.2	+	0	494	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCACATTTTCCTTCTCCTTT	0.423000														372			40		0	0	1	0	0
CRK	1398	broad.mit.edu	37	17	1340138	1340138	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:1340138G>A	uc002fsl.3	-	1	703	c.553C>T	c.(553-555)Cct>Tct	p.P185S	CRK_uc002fsm.3_Missense_Mutation_p.P185S	NM_016823	NP_058431	P46108	CRK_HUMAN	Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian) (CRK), transcript variant II, mRNA.	185	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	SH2 domain binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		TCGACGTAAGGGACTGGAATC	0.567000														183			19		0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536722	4536722	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:4536722C>T	uc002fyh.3	-	8	1260	c.1235G>A	c.(1234-1236)gGa>gAa	p.G412E	ALOX15_uc010vsd.2_Missense_Mutation_p.G373E|ALOX15_uc010vse.2_Missense_Mutation_p.G434E	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	412	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.G412E(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GTCGAAAATTCCCATGTCAGA	0.537000														179			13		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380904	147380904	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:147380904C>T	uc021ovm.1	+	0	822	c.822C>T	c.(820-822)atC>atT	p.I274I	GJA8_uc001epu.2_Silent_p.I274I	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	274					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AAGAGAAAATCGTTTCCCACT	0.537000														92			10		0	0	1	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119217021	119217021	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:119217021G>A	uc010rzg.1	-	1	278	c.118C>T	c.(118-120)Cca>Tca	p.P40S	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	40				P -> Q (in Ref. 2; CAH93521).	embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GCATCCTCTGGGAAAACTGGG	0.632000														32			6		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825573	196825573	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:196825573G>A	uc002utj.4	-	17	2403	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	768	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCATAAAGACGAAGATAAGGG	0.403000														118			9		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303222	151303222	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:151303222G>A	uc022cgz.1	-	0	871	c.871C>T	c.(871-873)Cct>Tct	p.P291S	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.P291S|MAGEA10_uc004ffm.2_Missense_Mutation_p.P291S|MAGEA10_uc004ffl.3_Missense_Mutation_p.P291S	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	291	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TACCGTGCAGGATCACTGCCA	0.522000														251			24		0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593294	135593294	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:135593294G>A	uc004ezw.3	+	9	1812	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	HTATSF1_uc004ezx.3_Missense_Mutation_p.E464K	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	464	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGGCTGCCCTGAAAAAGAATC	0.468000														129			7		0	0	1	0	0
STK39	27347	broad.mit.edu	37	2	169020356	169020356	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:169020356G>A	uc002uea.3	-	3	625	c.465C>T	c.(463-465)aaC>aaT	p.N155N		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	Homo sapiens serine threonine kinase 39 (STK39), mRNA.	155	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						GTTCTCCTCGGTTGACAATGT	0.368000														40			5		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096349	51096349	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:51096349G>A	uc003tps.3	-	10	2800	c.2615C>T	c.(2614-2616)tCg>tTg	p.S872L	COBL_uc003tpr.4_Missense_Mutation_p.S815L|COBL_uc011kcl.2_Missense_Mutation_p.S815L|COBL_uc003tpp.4_Missense_Mutation_p.S601L|COBL_uc003tpq.4_Missense_Mutation_p.S756L|COBL_uc003tpo.4_Missense_Mutation_p.S357L	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	815										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGCTGGGGCGATATTGGCTT	0.657000														92			5		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127637148	127637148	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:127637148A>T	uc003kuu.3	-	46	6411	c.5972T>A	c.(5971-5973)tTt>tAt	p.F1991Y		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1991	EGF-like 33; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AATTTCATTAAAACAACGTCC	0.358000														68			7		0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531100	43531100	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:43531100G>A	uc002ija.3	-	6	2288	c.2118C>T	c.(2116-2118)tcC>tcT	p.S706S	PLEKHM1_uc010wjm.2_Silent_p.S678S|PLEKHM1_uc002ijb.3_Silent_p.S181S|PLEKHM1_uc010wjn.1_Silent_p.S655S|PLEKHM1_uc002ijc.3_Silent_p.S160S	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	706	PH 2.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GAGCCTCCAAGGACAGAGAAA	0.547000														88			6		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76728558	76728558	+	Silent	SNP	G	A	A	rs142510377	by1000genomes	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:76728558G>A	uc003pik.1	-	6	814	c.684C>T	c.(682-684)ttC>ttT	p.F228F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	228					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCAACACAGCGAATTCTGTTT	0.413000														82			9		0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155233803	155233803	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:155233803G>A	uc001fjy.3	-	11	1545	c.1255C>T	c.(1255-1257)Ctg>Ttg	p.L419L	SCAMP3_uc001fjs.3_5'Flank|SCAMP3_uc001fjt.3_5'Flank|CLK2_uc001fjw.3_Silent_p.L418L|CLK2_uc001fjx.3_Silent_p.L191L|CLK2_uc009wqm.3_Silent_p.L419L	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	419	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R418C(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCAATCCAGGCGACCCCGG	0.517000								Other conserved DNA damage response genes						183			18		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50526115	50526115	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:50526115G>A	uc001zxw.3	+	8	1838	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	SLC27A2_uc010bes.3_Missense_Mutation_p.E483K|SLC27A2_uc001zxx.3_Missense_Mutation_p.E301K	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	536					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	p.E536A(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGAAAACCATGAATTTGATGG	0.378000														53			6		0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36327301	36327301	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:36327301C>T	uc003tfa.3	+	5	1870	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	410					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CCCTGACCCTCCTGGGGAGCG	0.547000														155			14		0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30571352	30571352	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:30571352G>A	uc003nqn.1	-	15	2216	c.1664C>T	c.(1663-1665)cCt>cTt	p.P555L	PPP1R10_uc010jsc.1_Missense_Mutation_p.P209L	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	555	Gly-rich.|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CAGAACTGGAGGCAACTTGGA	0.562000														262			21		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53009975	53009975	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:53009975C>T	uc001sas.3	-	1	672	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	213	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.E213*(2)|p.R212H(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCACCACTTCGCGCACGCTC	0.627000														170			23		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463759	5463759	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:5463759C>T	uc003jdm.4	+	12	4534	c.4312C>T	c.(4312-4314)Cag>Tag	p.Q1438*		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1438										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACATGTGGACCAGGTCACACT	0.463000														116			8		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32035624	32035624	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:32035624C>T	uc003nzl.2	-	17	6560	c.6358G>A	c.(6358-6360)Ggc>Agc	p.G2120S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2192	Fibronectin type-III 13.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.G2207C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCGAAGCGGCCCTGGGGGACG	0.687000														115			6		0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118758452	118758452	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:118758452A>T	uc002tlj.3	-	3	476	c.308T>A	c.(307-309)cTg>cAg	p.L103Q	CCDC93_uc010fld.2_Missense_Mutation_p.L159Q	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	103										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GTGGGGCTCCAGCTGGTGTGG	0.448000														82			9		0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223009	44223009	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:44223009C>T	uc002oxh.3	+	1	446	c.299C>T	c.(298-300)cCa>cTa	p.P100L	IRGC_uc021uvh.1_Missense_Mutation_p.P100L	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	100						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TCGCCCTATCCACACCCACAG	0.647000														63			8		0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100692686	100692686	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:100692686C>T	uc004axy.3	-	2	1099	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	HEMGN_uc004axz.3_Missense_Mutation_p.E331K	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	331					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACAATAATTTCGTTACATGTT	0.358000														170			20		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26775249	26775249	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:26775249G>A	uc001rhg.3	-	24	3629	c.3212C>T	c.(3211-3213)cCt>cTt	p.P1071L		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1071					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGACAGCAAAGGCGGGTAGTC	0.463000														64			5		0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44793170	44793170	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:44793170G>A	uc002oza.4	-	4	521	c.418C>T	c.(418-420)Ccc>Tcc	p.P140S	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.P136S	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				ACTTGACAGGGGGAATCATGG	0.428000														146			11		0	0	1	0	0
CABLES2	81928	broad.mit.edu	37	20	60966461	60966461	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:60966461G>A	uc002ycv.2	-	8	1147	c.1140C>T	c.(1138-1140)ccC>ccT	p.P380P		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 2 (CABLES2), mRNA.	380					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCACCGTCACGGGCTCCAGGC	0.632000														294			20		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092842	30092842	+	RNA	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:30092842G>A	uc010dmc.3	+	0		c.1217G>A								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		GGAAGTAGAGGAATTTTCAGA	0.423000														64			5		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24466778	24466778	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr22:24466778C>T	uc002zzi.1	+	16	2387	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	CABIN1_uc021wnc.1_Missense_Mutation_p.R704W|CABIN1_uc002zzj.1_Missense_Mutation_p.R704W|CABIN1_uc002zzl.2_Missense_Mutation_p.R754W	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	754					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAGGACTATCGGCAGTGTTT	0.582000														152			13		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684190	100684190	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:100684190C>T	uc003uxp.1	+	2	9546	c.9493C>T	c.(9493-9495)Cca>Tca	p.P3165S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3165	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGAAGTACTCCATTAACATA	0.493000														828			79		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1516525	1516525	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:1516525G>A	uc003skn.2	-	35	5069	c.4968C>T	c.(4966-4968)ttC>ttT	p.F1656F		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1656					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGTAGGGACGGAACGAGGGCA	0.642000														21			5		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794500	15794500	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:15794500G>A	uc002nbl.3	+	6	964	c.845G>A	c.(844-846)gGt>gAt	p.G282D		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCCACTCAGGGTATTGATGAT	0.527000														193			14		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51390787	51390787	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:51390787C>T	uc001wyu.3	-	4	687	c.560G>A	c.(559-561)gGa>gAa	p.G187E	PYGL_uc010tqq.2_Missense_Mutation_p.G153E|PYGL_uc010anz.1_5'UTR|PYGL_uc001wyw.4_Missense_Mutation_p.G187E	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	187					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CCAAGGGTTTCCATATCTGAG	0.423000														107			7		0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31471225	31471225	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:31471225A>G	uc010vfn.2	+	2	789	c.665A>G	c.(664-666)aAg>aGg	p.K222R	ARMC5_uc010vfo.2_Missense_Mutation_p.K159R|ARMC5_uc002ecc.3_Missense_Mutation_p.K127R|ARMC5_uc002eca.4_Missense_Mutation_p.K127R|ARMC5_uc002ecb.2_Missense_Mutation_p.K127R|ARMC5_uc010vfp.2_Missense_Mutation_p.K127R	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	127							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						CGCCTGCGCAAGACGCTGGAC	0.687000														65			4		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48612255	48612255	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:48612255C>T	uc003ctz.2	-	75	6324	c.6323G>A	c.(6322-6324)gGa>gAa	p.G2108E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2108	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCAGGGGGTCCCTGTTCTCC	0.572000														62			4		0	0	1	0	0
PGK1	5230	broad.mit.edu	37	X	77380915	77380915	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:77380915C>T	uc004ecz.4	+	9	1378	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	PGK1_uc011mqq.2_Silent_p.L374L	NM_000291	NP_000282	P00558	PGK1_HUMAN	Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA.	402					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GTTTGGAGCTCCTGGAAGGTG	0.512000														68			7		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74285330	74285330	+	Missense_Mutation	SNP	G	A	A	rs76587671		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:74285330G>A	uc003hgs.4	+	12	1832	c.1759G>A	c.(1759-1761)Gat>Aat	p.D587N	ALB_uc011cbe.2_Missense_Mutation_p.D266N|ALB_uc003hgw.4_Missense_Mutation_p.D395N|ALB_uc011cbf.2_Missense_Mutation_p.D477N	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	587	Albumin 3.		D -> N (in Fukuoka-1/Paris-2).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.D586E(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CAAGGCTGACGATAAGGAGAC	0.438000														124			6		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20986599	20986599	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:20986599C>T	uc010vbe.2	-	50	8215	c.8215G>A	c.(8215-8217)Gaa>Aaa	p.E2739K	DNAH3_uc010vbd.2_Missense_Mutation_p.E174K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2739	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)		GCTTCTTTTTCATCTGCCTGC	0.483000														288			15		0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14882838	14882838	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:14882838C>T	uc004cwg.1	-	2	1063	c.795G>A	c.(793-795)ctG>ctA	p.L265L	FANCB_uc004cwh.1_Silent_p.L265L	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	265					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GAAATGAAATCAGCTGATTCT	0.393000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					87			7		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155508050	155508050	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:155508050G>A	uc003iod.1	-	4	589	c.531C>T	c.(529-531)atC>atT	p.I177I	FGA_uc003ioe.1_Silent_p.I177I|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	177					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GACAAGATCGGATCTTAATAT	0.398000														72			8		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11501681	11501681	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:11501681C>T	uc021zzo.1	-	9	2710	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	THSD7A_uc021zzn.1_Missense_Mutation_p.E820K	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	820	TSP type-1 8.					integral to membrane		p.E820K(4)|p.Y819C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCCTTCTCTTCATAGAGGGGA	0.542000										HNSCC(18;0.044)				296			17		0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3783205	3783205	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:3783205C>T	uc002lyt.3	-	6	995	c.595G>A	c.(595-597)Gac>Aac	p.D199N	MATK_uc002lyv.3_Missense_Mutation_p.D200N|MATK_uc002lyu.3_Missense_Mutation_p.D158N|MATK_uc010dtq.3_Missense_Mutation_p.D199N	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	199	SH2.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		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)		GCGCCCTTGTCCTTGCTGTAA	0.657000														70			11		0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52841142	52841142	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:52841142C>T	uc001sak.3	-	8	1575	c.1527G>A	c.(1525-1527)ctG>ctA	p.L509L		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	509	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TTCCTCCACCCAGGCCTAAGC	0.627000														87			8		0	0	1	0	0
C1orf192	257177	broad.mit.edu	37	1	161334778	161334778	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:161334778G>C	uc001gal.3	-	4	517	c.511C>G	c.(511-513)Ccc>Gcc	p.P171A		NM_001013625	NP_001013647	Q5VTH2	CA192_HUMAN	Homo sapiens chromosome 1 open reading frame 192 (C1orf192), mRNA.	171										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGTCTTTGGGGACCTGGAGTA	0.527000														126			15		0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3683103	3683104	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:3683103_3683104CC>TT	uc001akv.2	+	8	1538_1539	c.1457_1458CC>TT	c.(1456-1458)tcc>tTT	p.S486F		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	486										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TTCCAGTTCTCCAACCTCCGAG	0.495000														58			4		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56313060	56313060	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:56313060C>T	uc010ygf.2	-	6	2760	c.2049G>A	c.(2047-2049)aaG>aaA	p.K683K	NLRP11_uc002qlz.3_Silent_p.K530K|NLRP11_uc002qmb.3_Silent_p.K584K|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	683							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAGCCAAAGCCTTGAGTAAGT	0.453000														87			9		0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158250217	158250217	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:158250217G>A	uc010jip.3	-	7	1047	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	EBF1_uc011ddw.2_Missense_Mutation_p.P116S|EBF1_uc011ddx.2_Missense_Mutation_p.P249S|EBF1_uc003lxl.4_Missense_Mutation_p.P226S	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	249					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTCCGAGGGGTCAAGCCTC	0.463000			T	HMGA2	lipoma									65			9		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467126	21467126	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:21467126C>T	uc003cce.3	-	5	1118	c.710G>A	c.(709-711)gGa>gAa	p.G237E		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						AGTGCCACTTCCATTCCGGGC	0.448000														70			8		0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43806136	43806136	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:43806136C>T	uc001ciw.3	+	5	977	c.932C>T	c.(931-933)tCc>tTc	p.S311F	MPL_uc001civ.3_Missense_Mutation_p.S311F|MPL_uc009vwr.3_Missense_Mutation_p.S304F	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	311					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATGCTAGCTCCCAAGGCTTC	0.517000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							269			35		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327549	152327549	+	Missense_Mutation	SNP	C	T	T	rs148753254		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:152327549C>T	uc001ezw.4	-	2	2786	c.2713G>A	c.(2713-2715)Gga>Aga	p.G905R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	905	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTATTGTCCTGAGCCAGTC	0.488000														384			38		0	0	1	0	0
USP51	158880	broad.mit.edu	37	X	55513971	55513971	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:55513971C>T	uc022bxu.1	-	0	1402	c.1402G>A	c.(1402-1404)Gat>Aat	p.D468N	USP51_uc004dun.2_Missense_Mutation_p.D468N	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.	468					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.D467Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CCACCACTATCATCTTTGCTG	0.468000														169			13		0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140693307	140693307	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:140693307G>A	uc011mfc.2	+	16	2585	c.2548G>A	c.(2548-2550)Ggc>Agc	p.G850S		NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	850					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGCCAAGAAAGGCCACTACGA	0.532000														157			22		0	0	1	0	0
PAGE1	8712	broad.mit.edu	37	X	49455912	49455912	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:49455912C>T	uc004dom.3	-	3	365	c.232G>A	c.(232-234)Ggt>Agt	p.G78S		NM_003785	NP_003776	O75459	GAGB1_HUMAN	Homo sapiens P antigen family, member 1 (prostate associated) (PAGE1), mRNA.	78					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					GTATCAGGACCATCTCCAAGC	0.468000														95			7		0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17892536	17892536	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:17892536C>T	uc002nhg.3	+	22	2123	c.1844C>T	c.(1843-1845)cCg>cTg	p.P615L	FCHO1_uc010ebb.2_Missense_Mutation_p.P615L|FCHO1_uc002nhh.2_Missense_Mutation_p.P615L|FCHO1_uc010xpw.1_Missense_Mutation_p.P565L	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	615										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCCCGGGGTCCGAGCCCTGTG	0.627000														190			15		0	0	1	0	0
RPS21	6227	broad.mit.edu	37	20	60962424	60962424	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:60962424C>T	uc002yct.3	+	1	120	c.30C>T	c.(28-30)gaC>gaT	p.D10D	RPS21_uc002ycr.3_Silent_p.D10D|RPS21_uc002ycs.3_Silent_p.D10D			P63220	RS21_HUMAN	Homo sapiens ribosomal protein S21 (RPS21), mRNA.	10					endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein N-terminus binding|structural constituent of ribosome			endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGTTCGTGGACCTGTACGTGC	0.682000														14			3		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219297672	219297672	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:219297672C>T	uc002vib.3	+	11	1520	c.1498C>T	c.(1498-1500)Cag>Tag	p.Q500*	VIL1_uc010zke.2_Nonsense_Mutation_p.Q189*|VIL1_uc002via.3_Nonsense_Mutation_p.Q500*	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	500	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGTCTACCAGGTGTGGCT	0.572000														71			10		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	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					78			9		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1520694	1520694	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:1520694C>T	uc002qwr.3	+	14	2644	c.2558C>T	c.(2557-2559)tCg>tTg	p.S853L	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.S853L|TPO_uc002qwx.3_Missense_Mutation_p.S796L|TPO_uc002qwu.3_Missense_Mutation_p.S796L|TPO_uc010yio.2_Missense_Mutation_p.S680L|TPO_uc010yip.2_Missense_Mutation_p.S809L|TPO_uc002qwy.1_Missense_Mutation_p.S149L|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	853					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ATCTCCATGTCGCTGGCTGCT	0.562000														69			7		0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110782771	110782771	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:110782771C>T	uc001tqk.4	+	16	3165	c.2602C>T	c.(2602-2604)Cag>Tag	p.Q868*	ATP2A2_uc001tql.4_Nonsense_Mutation_p.Q868*|ATP2A2_uc021rdt.1_Nonsense_Mutation_p.Q716*|ATP2A2_uc001tqn.4_5'Flank|ATP2A2_uc009zvn.3_5'Flank	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	868					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GTCCTTCTACCAGCTGGTACT	0.493000														91			11		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480138	10480138	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:10480138G>A	uc003wtc.3	-	1	803	c.574C>T	c.(574-576)Cct>Tct	p.P192S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	192					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCTTCACAGGAAAGCGCAGG	0.522000														233			21		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	48993541	48993541	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:48993541C>T	uc003gyv.3	+	2	488	c.306C>T	c.(304-306)tcC>tcT	p.S102S	CWH43_uc011bzl.2_Silent_p.S75S	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	102					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GGGTGTCTTCCTCACTGATAG	0.438000														261			25		0	0	1	0	0
DEFB125	245938	broad.mit.edu	37	20	76798	76798	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:76798C>T	uc002wcw.3	+	1	211	c.211C>T	c.(211-213)Cct>Tct	p.P71S		NM_153325	NP_697020	Q8N687	DB125_HUMAN	Homo sapiens defensin, beta 125 (DEFB125), mRNA.	71					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			ACCAGCATTTCCTGTGATTCA	0.363000														194			11		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22259514	22259514	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:22259514C>T	uc003svg.3	-	8	821	c.508G>A	c.(508-510)Gac>Aac	p.D170N		NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	0	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCTTTTTTGTCCGTCTGCAAA	0.443000														63			11		0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54496781	54496781	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:54496781G>A	uc004dtg.3	-	3	1503	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S	FGD1_uc011moi.1_Missense_Mutation_p.P15S	NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	257	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCACCCTCGGGGAGCTGGGGC	0.667000														31			5		0	0	1	0	0
GALR2	8811	broad.mit.edu	37	17	74073304	74073304	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:74073304C>T	uc002jqm.1	+	1	1029	c.956C>T	c.(955-957)tCg>tTg	p.S319L	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	Homo sapiens galanin receptor 2 (GALR2), mRNA.	319					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GGCCGAGCCTCGGGCCGTGTG	0.701000														13			3		0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19947234	19947234	+	Silent	SNP	T	C	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:19947234T>C	uc003cbl.4	-	5	1492	c.1296A>G	c.(1294-1296)gcA>gcG	p.A432A	EFHB_uc003cbm.3_Silent_p.A302A	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	432					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTCGGTTCTTTGCCTCTCCTG	0.388000														56			10		0	0	1	0	0
TRA2B	6434	broad.mit.edu	37	3	185643322	185643322	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:185643322C>T	uc003fpv.3	-	2	539	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	TRA2B_uc003fpt.3_5'Flank|TRA2B_uc003fpu.3_Non-coding_Transcript|TRA2B_uc010hym.3_5'UTR	NM_004593	NP_001230808	P62995	TRA2B_HUMAN	Homo sapiens transformer 2 beta homolog (Drosophila) (TRA2B), transcript variant 1, mRNA.	88	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						ACGATAATCTCGACTGTAAGA	0.522000														111			5		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739511	121739511	+	Silent	SNP	G	A	A	rs149915358	byFrequency	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:121739511G>A	uc003ksw.1	+	2	287	c.81G>A	c.(79-81)acG>acA	p.T27T	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Silent_p.T27T|SNCAIP_uc003ksy.1_Missense_Mutation_p.R12Q|SNCAIP_uc003ksx.1_Silent_p.T74T|SNCAIP_uc003ksz.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcu.2_Missense_Mutation_p.R12Q|SNCAIP_uc011cwm.1_Missense_Mutation_p.R12Q|SNCAIP_uc003kta.1_Missense_Mutation_p.R10Q|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcx.1_Silent_p.T27T	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	27					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CACTCAAGACGATCCCAGAAC	0.453000														151			15		0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105503461	105503461	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:105503461G>A	uc003yma.3	-	6	2147	c.2020C>T	c.(2020-2022)Cct>Tct	p.P674S	LRP12_uc003ymb.3_Missense_Mutation_p.P655S|LRP12_uc003ylz.3_Missense_Mutation_p.P80S	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	674					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGAGGCAAAGGAGCTGCAACC	0.478000														68			5		0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88423665	88423665	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:88423665C>T	uc003ujv.3	-	1	774	c.592G>A	c.(592-594)Gat>Aat	p.D198N	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Missense_Mutation_p.D198N	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	198								p.D198N(4)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGTAAGTTATCGCCTGGTCCT	0.423000														134			10		0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69378955	69378955	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:69378955G>A	uc001xkl.3	-	3	655	c.345C>T	c.(343-345)atC>atT	p.I115I	ACTN1_uc010ttb.2_Silent_p.I50I|ACTN1_uc001xkm.3_Silent_p.I115I|ACTN1_uc001xkn.3_Silent_p.I115I|ACTN1_uc001xko.1_Silent_p.I50I|ACTN1_uc010ttd.1_Silent_p.I94I	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	115	Actin-binding.|CH 1.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCCCATCCACGATTTCTACAG	0.542000											OREG0022758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		142			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262783	140262783	+	Silent	SNP	C	T	T	rs145698462		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140262783C>T	uc003lif.2	+	0	930	c.930C>T	c.(928-930)ttC>ttT	p.F310F	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_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.F310F|PCDHAC2_uc003lid.3_Silent_p.F310F	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	325	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)			AACTAGATTTCGAAGAAAAGA	0.378000														96			12		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262159	45262159	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:45262159G>A	uc003jok.3	-	7	2562	c.2537C>T	c.(2536-2538)tCg>tTg	p.S846L		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	846						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGCTCCCGACGACATCTGTCG	0.647000														124			9		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424525	56424525	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:56424525C>T	uc010ygg.2	-	4	683	c.658G>A	c.(658-660)Gat>Aat	p.D220N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	220							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTATTAGGATCCAGTAGGCGC	0.527000														197			26		0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638712	149638712	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:149638712C>T	uc011mxu.2	+	2	1102	c.792C>T	c.(790-792)ctC>ctT	p.L264L	MAMLD1_uc011mxt.1_Silent_p.L251L|MAMLD1_uc004fee.2_Silent_p.L289L|MAMLD1_uc011mxv.2_Silent_p.L264L|MAMLD1_uc011mxw.2_Silent_p.L216L	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	289					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)					AGGCCATGCTCCCTGTCGCTC	0.582000														157			9		0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774588	100774588	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:100774588G>T	uc010svi.2	+	1	524	c.211G>T	c.(211-213)Ggc>Tgc	p.G71C	SLC17A8_uc009ztx.3_Missense_Mutation_p.G71C	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	71					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CCACTGCTGCGGCCTCCCCAA	0.537000														203			15		2.32078e-09	2.35027e-09	1	1	0
PRRC2B	84726	broad.mit.edu	37	9	134350764	134350764	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:134350764G>A	uc004can.4	+	14	3303	c.3248G>A	c.(3247-3249)gGa>gAa	p.G1083E	PRRC2B_uc010mzj.1_Missense_Mutation_p.G666E|PRRC2B_uc004cao.4_Missense_Mutation_p.G441E	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1083							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCTGCTGGCGGAAATGGGAGC	0.657000														28			5		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100696311	100696311	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:100696311A>G	uc003uxp.1	+	9	13201	c.13148A>G	c.(13147-13149)aAc>aGc	p.N4383S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4383						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAGACCTGTAACCAGGGCACC	0.597000														108			7		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32466592	32466592	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:32466592C>T	uc004dda.1	-	26	4011	c.3767G>A	c.(3766-3768)gGg>gAg	p.G1256E	DMD_uc004dcz.2_Missense_Mutation_p.G1133E|DMD_uc004dcy.1_Missense_Mutation_p.G1252E|DMD_uc004ddb.1_Missense_Mutation_p.G1248E|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1256					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTGCATTTCCCATTCAGCCT	0.423000														124			21		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153030017	153030017	+	Silent	SNP	G	A	A	rs141629018		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:153030017G>A	uc011dcy.2	+	3	645	c.618G>A	c.(616-618)aaG>aaA	p.K206K	GRIA1_uc003lva.4_Silent_p.K196K|GRIA1_uc003luy.4_Silent_p.K196K|GRIA1_uc003luz.4_Silent_p.K101K|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.K116K|GRIA1_uc011dcx.2_Silent_p.K127K|GRIA1_uc011dcz.2_Silent_p.K206K|GRIA1_uc010jia.1_Silent_p.K176K	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	196					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGAAGAAAAAGGAGCGGCTGG	0.537000														133			14		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57566960	57566960	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:57566960C>T	uc001snd.3	+	20	3639	c.3173C>T	c.(3172-3174)cCc>cTc	p.P1058L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1058					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.P1058T(3)|p.R1057R(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCACGAGGCCCCCTGGTGGC	0.672000											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237669	140237669	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140237669C>T	uc003lhx.2	+	0	2036	c.2036C>T	c.(2035-2037)tCg>tTg	p.S679L	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_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Missense_Mutation_p.S679L	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	689	Cadherin 6.				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)			AAGGCCTCGTCGCGGGCTTCA	0.662000														90			11		0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203317042	203317042	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:203317042G>A	uc001gzr.3	-	1	493	c.357C>T	c.(355-357)tcC>tcT	p.S119S		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	119					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTTCCTGGATGGAGGTGATCT	0.542000														54			5		0	0	1	0	0
MALL	7851	broad.mit.edu	37	2	110849283	110849283	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:110849283C>T	uc002tfk.3	-	1	944	c.170G>A	c.(169-171)gGa>gAa	p.G57E	MALL_uc010fju.3_Intron	NM_005434	NP_005425	Q13021	MALL_HUMAN	Homo sapiens mal, T-cell differentiation protein-like (MALL), mRNA.	57	MARVEL.				cholesterol homeostasis	Golgi membrane|clathrin-coated vesicle|integral to membrane|membrane raft|plasma membrane	protein binding	p.G57A(2)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		CATCACCCATCCTTGCAGCAA	0.433000														140			6		0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736120	4736120	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:4736120G>A	uc001qnb.4	-	3	2192	c.1948C>T	c.(1948-1950)Ctt>Ttt	p.L650F		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	650					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AGCCCAGAAAGGGCACCAGGG	0.522000														74			7		0	0	1	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38809722	38809722	+	Silent	SNP	C	T	T	rs112121731		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:38809722C>T	uc003xmi.4	+	6	759	c.525C>T	c.(523-525)tcC>tcT	p.S175S	PLEKHA2_uc011lce.2_Silent_p.S125S	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA.	175					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			AGCCCGGGTCCCACACCATCC	0.592000														29			6		0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73523279	73523279	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:73523279C>T	uc003uaa.2	+	9	1411	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Silent_p.F365F|LIMK1_uc003uac.1_Silent_p.F191F	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	399	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TGCTCAAGTTCATCGGGGTGC	0.602000														75			20		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995659	140995659	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:140995659G>A	uc004fbt.3	+	3	2793	c.2469G>A	c.(2467-2469)tcG>tcA	p.S823S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.S482S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	823							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)					CCACTTCATCGAGTCTTTCCC	0.557000										HNSCC(15;0.026)				370			51		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149878254	149878254	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:149878254C>T	uc001etg.3	-	10	2324	c.1833G>A	c.(1831-1833)ggG>ggA	p.G611G	SV2A_uc009wlk.3_Silent_p.G63G|SV2A_uc001eth.2_Silent_p.G611G	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	611				G -> R (in Ref. 3; BAC11645).	neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACACGATATTCCCAGGAAGCA	0.577000														102			13		0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378935	142378935	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:142378935C>T	uc003waa.1	+	1	203	c.203C>T	c.(202-204)tCc>tTc	p.S68F	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		ATCCACTATTCCTATGGAGTT	0.463000														178			9		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8620195	8620195	+	Missense_Mutation	SNP	G	A	A	rs138232433		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:8620195G>A	uc003glm.3	+	9	1717	c.1543G>A	c.(1543-1545)Ggc>Agc	p.G515S	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.G504S|CPZ_uc003gln.3_Missense_Mutation_p.G378S	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	515					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGATAAATTCGGCAAGCCAGT	0.607000														48			6		0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33288404	33288404	+	Silent	SNP	C	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:33288404C>A	uc002hig.3	-	0	125	c.9G>T	c.(7-9)gcG>gcT	p.A3A	CCT6B_uc010ctg.3_Silent_p.A3A|CCT6B_uc010wcc.2_Silent_p.A3A|ZNF830_uc002hih.4_5'Flank	NM_006584	NP_006575	Q92526	TCPW_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6B (zeta 2) (CCT6B), transcript variant 1, mRNA.	3					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				CGGCCTTTATCGCAGCCATAG	0.582000														107			12		5.50884e-06	5.54861e-06	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140181436	140181436	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140181436G>A	uc003lhf.2	+	0	654	c.654G>A	c.(652-654)ggG>ggA	p.G218G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.G218G	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	233	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)			TTGATGGTGGGAAACCAGAGC	0.393000														96			12		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	19015531	19015531	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:19015531C>T	uc003sui.3	+	23	3166	c.3125C>T	c.(3124-3126)tCc>tTc	p.S1042F	HDAC9_uc003sue.3_Missense_Mutation_p.S1039F|HDAC9_uc003suj.3_Missense_Mutation_p.S998F|HDAC9_uc003suk.3_Missense_Mutation_p.S287F	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	0					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCCCTGGCCTCCCTAACAGTG	0.537000														61			9		0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207307800	207307800	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:207307800G>A	uc001hfo.3	+	8	1330	c.1136G>A	c.(1135-1137)aGg>aAg	p.R379K		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	379	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ACTCAACACAGGAAAAGTCGT	0.383000														146			22		0	0	1	0	0
LDHD	197257	broad.mit.edu	37	16	75147661	75147661	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:75147661C>T	uc002fdm.3	-	6	1058	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	LDHD_uc002fdn.3_Missense_Mutation_p.E313K	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	Homo sapiens lactate dehydrogenase D (LDHD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	336							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						AGCTGCTCCTCCAGTGCCTGC	0.627000														88			13		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16258504	16258504	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:16258504C>T	uc001axk.1	+	10	5973	c.5769C>T	c.(5767-5769)ccC>ccT	p.P1923P	SPEN_uc010obp.1_Silent_p.P1882P	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1923					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCAAAGAGCCCGTTGAGCAAC	0.572000														131			9		0	0	1	0	0
RELA	5970	broad.mit.edu	37	11	65422357	65422357	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:65422357G>A	uc010ron.2	-	10	1321	c.1181C>T	c.(1180-1182)cCt>cTt	p.P394L	RELA_uc001off.3_Missense_Mutation_p.P383L|RELA_uc001ofh.3_Missense_Mutation_p.P380L|RELA_uc001ofg.3_Missense_Mutation_p.P383L|RELA_uc021qlq.1_Intron|RELA_uc009yqr.3_Missense_Mutation_p.P330L|RELA_uc001ofe.2_3'UTR	NM_021975	NP_068810	Q04206	TF65_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA.	383					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						gacttggggaggggccggggc	0.652000														13			3		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79205600	79205600	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:79205600G>A	uc003hlb.2	+	12	1737	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	FRAS1_uc003hkw.3_Missense_Mutation_p.D433N|FRAS1_uc003hky.1_Missense_Mutation_p.D137N|FRAS1_uc003hkz.3_Missense_Mutation_p.D137N|FRAS1_uc003hla.1_5'Flank	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	433					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCAGTCTCCAGACCACTGTGA	0.458000														320			13		0	0	1	0	0
LOC341056	341056	broad.mit.edu	37	11	122889144	122889144	+	RNA	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:122889144C>T	uc010rzt.2	+	0		c.871C>T								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		GGGAAGATTCCGAGTTGTTGC	0.498000														100			8		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117032999	117032999	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:117032999C>T	uc011mtp.2	-	7	1982	c.1849G>A	c.(1849-1851)Gat>Aat	p.D617N	KLHL13_uc004eqk.3_Missense_Mutation_p.D563N|KLHL13_uc004eql.3_Missense_Mutation_p.D614N|KLHL13_uc011mtn.2_Missense_Mutation_p.D454N|KLHL13_uc011mto.2_Missense_Mutation_p.D608N|KLHL13_uc011mtq.2_Missense_Mutation_p.D598N|KLHL13_uc004eqm.3_Missense_Mutation_p.D572N|KLHL13_uc022cde.1_Missense_Mutation_p.D598N	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	614					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGCCATTCATCTTTATCTGGA	0.428000														188			9		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560884	44560884	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:44560884T>C	uc002lcr.1	-	0	1105	c.752A>G	c.(751-753)gAg>gGg	p.E251G	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	251					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCATGATTTCTCCCTGATCAA	0.567000														86			8		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356304	40356304	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:40356304G>A	uc003gva.1	+	4	1223	c.1207G>A	c.(1207-1209)Gac>Aac	p.D403N		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	403					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	p.N402N(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CTTAAAGAACGACCTGGGCTG	0.483000														78			9		0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316132	125316133	+	Silent	DNP	CC	AT	AT			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:125316132_125316133CC>AT	uc011lyx.2	+	0	684_685	c.684_685CC>AT	c.(682-687)ctcctg>ctATtg	p.228_229LL>LL		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTGTTCCCCTCCTGCTGATCGT	0.505000														220			31		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5624860	5624860	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:5624860C>T	uc001mbf.3	+	1	665	c.402C>T	c.(400-402)ctC>ctT	p.L134L	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Intron|TRIM6-TRIM34_uc010qzj.2_5'UTR|TRIM6-TRIM34_uc001mbc.2_Silent_p.L106L|TRIM6-TRIM34_uc001mbe.3_5'UTR|TRIM6-TRIM34_uc001mbd.3_Silent_p.L134L|TRIM6-TRIM34_uc010qzk.2_Intron|TRIM6-TRIM34_uc010qzl.2_Intron|TRIM6-TRIM34_uc009yep.1_5'Flank	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	134						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AACTGCAGCTCTTCTGTCAGG	0.557000														129			6		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196741396	196741396	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:196741396C>T	uc002utj.4	-	36	6090	c.5989G>A	c.(5989-5991)Gaa>Aaa	p.E1997K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1997	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGTAGATTTCCTTATTTAGT	0.303000														45			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203180	140203180	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140203180C>T	uc003lhl.2	+	0	1820	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	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_uc003lhk.1_Missense_Mutation_p.S607L|PCDHAC2_uc003lhj.1_Missense_Mutation_p.S607L	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	621	Cadherin 6.				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)			GCTTGGCTTTCGTATGAGCTG	0.652000														104			21		0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100352132	100352132	+	Silent	SNP	T	C	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:100352132T>C	uc003duc.3	+	3	626	c.358T>C	c.(358-360)Ttg>Ctg	p.L120L	GPR128_uc011bhc.2_5'Flank	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	120					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GGCAGTCCGGTTGTGCAGTCT	0.313000														51			4		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10219297	10219297	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:10219297C>T	uc002gmk.1	-	27	3874	c.3784G>A	c.(3784-3786)Gaa>Aaa	p.E1262K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1262					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCTTTGATTTCACTAAATTGA	0.448000														142			16		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811248	5811248	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:5811248G>A	uc010ndi.3	-	6	2636	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F	NLGN4X_uc004crp.3_Silent_p.F707F|NLGN4X_uc010ndh.3_Silent_p.F687F|NLGN4X_uc004crq.3_Silent_p.F687F|NLGN4X_uc004crr.3_Silent_p.F687F|NLGN4X_uc010ndj.3_Silent_p.F687F	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	687					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGATGTTGAGGAAGAGGAGCG	0.507000														180			16		0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223504379	223504379	+	Silent	SNP	A	G	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:223504379A>G	uc010zlq.1	-	5	470	c.435T>C	c.(433-435)gtT>gtC	p.V145V	FARSB_uc002vne.1_Silent_p.V125V|FARSB_uc002vnf.1_Silent_p.V26V	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, beta subunit (FARSB), mRNA.	125					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|RNA binding|magnesium ion binding|phenylalanine-tRNA ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TATTACGGAGAACTGCTGCTA	0.333000														56			10		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168119658	168119658	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:168119658G>A	uc010jjg.3	-	28	3571	c.3151C>T	c.(3151-3153)Ctc>Ttc	p.L1051F	SLIT3_uc003mab.3_Missense_Mutation_p.L1044F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1044	EGF-like 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCTGACAGAGGTTCAGCTCA	0.572000														79			9		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90816662	90816662	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:90816662G>A	uc003hst.3	+	0	611	c.540G>A	c.(538-540)cgG>cgA	p.R180R	MMRN1_uc010iku.3_Silent_p.R146R	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	180					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAGCCCCACGGGAAACATACC	0.473000														72			8		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10874870	10874870	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:10874870C>T	uc003mzn.4	-	4	951	c.879G>A	c.(877-879)aaG>aaA	p.K293K	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	293					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGGTGGAATCCTTATAAAGGG	0.413000														336			12		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189859549	189859549	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:189859549G>A	uc002uqj.1	+	19	1564	c.1447G>A	c.(1447-1449)Gga>Aga	p.G483R	MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	483	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGAGCTGCAGGAGAAAGGGT	0.483000														117			6		0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216824393	216824393	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:216824393C>T	uc001hkw.2	-	2	684	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	ESRRG_uc009xdp.1_Missense_Mutation_p.E148K|ESRRG_uc001hky.1_Missense_Mutation_p.E148K|ESRRG_uc001hkz.2_Intron|ESRRG_uc010puc.2_Missense_Mutation_p.E148K|ESRRG_uc001hla.2_Missense_Mutation_p.E148K|ESRRG_uc001hlb.2_Missense_Mutation_p.E148K|ESRRG_uc010pud.2_5'UTR|ESRRG_uc021pja.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.E148K|ESRRG_uc001hld.1_Missense_Mutation_p.E148K|ESRRG_uc001hkx.2_Missense_Mutation_p.E176K|ESRRG_uc009xdo.2_Missense_Mutation_p.E148K|ESRRG_uc001hle.2_Missense_Mutation_p.E148K|ESRRG_uc021piz.1_Missense_Mutation_p.E148K|Mir_598_uc021pjb.1_5'Flank	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	171					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TTTGTGATTTCACATTCATTC	0.433000														133			9		0	0	1	0	0
TAF1B	9014	broad.mit.edu	37	2	9991705	9991705	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:9991705C>T	uc002qzz.3	+	3	341	c.241C>T	c.(241-243)Cag>Tag	p.Q81*	TAF1B_uc010exc.2_Nonsense_Mutation_p.Q81*|TAF1B_uc002qzy.4_Nonsense_Mutation_p.Q81*|TAF1B_uc010yja.2_5'UTR|TAF1B_uc010exd.3_5'UTR	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	81					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGAAGGTTTCCAGTATATTCT	0.343000														59			7		0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737528	248737528	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:248737528C>T	uc001iep.1	-	0	531	c.531G>A	c.(529-531)agG>agA	p.R177R		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGGATTTTCCTAGACTGGC	0.527000														143			13		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196695652	196695652	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:196695652G>A	uc001gtj.4	+	12	2166	c.1926G>A	c.(1924-1926)aaG>aaA	p.K642K	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	642	Sushi 11.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGAATGTTAAGGAAAAAACGA	0.338000														33			5		0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46497366	46497366	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:46497366C>T	uc003cpq.3	-	3	660	c.419G>A	c.(418-420)aGg>aAg	p.R140K	LTF_uc003fzr.3_Missense_Mutation_p.R96K|LTF_uc010hjh.3_Missense_Mutation_p.R140K|LTF_uc003cpr.3_Missense_Mutation_p.R127K	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	140	Transferrin-like 1.			Missing (in Ref. 13; AA sequence).	cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TCCAGCGGTCCTGCGAAGGCC	0.557000														77			11		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100237199	100237199	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:100237199G>A	uc003hus.4	-	4	507	c.423C>T	c.(421-423)ttC>ttT	p.F141F	ADH1B_uc003hut.4_Silent_p.F101F|ADH1B_uc011ceh.2_Intron|ADH1B_uc011cei.1_Silent_p.F101F	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	141					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TGGTGCCAAGGAAGTGGTGAA	0.577000														134			17		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113447	94113447	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:94113447G>A	uc001pet.2	-	3	1312	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	380						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCACCCTGAAGGAAGGAACTG	0.562000														111			11		0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88691145	88691145	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:88691145C>T	uc010voz.2	+	12	2306	c.2106C>T	c.(2104-2106)ccC>ccT	p.P702P	ZC3H18_uc002fky.3_Silent_p.P678P|ZC3H18_uc010chw.3_Non-coding_Transcript|ZC3H18_uc002fkz.3_5'Flank	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	678	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCAGGACCCCCCCCAGGAGGT	0.667000														29			5		0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13867056	13867056	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:13867056G>A	uc010gcf.3	-	8	860	c.778C>T	c.(778-780)Cca>Tca	p.P260S	SEL1L2_uc002woq.4_Missense_Mutation_p.P121S|SEL1L2_uc010zrl.2_Missense_Mutation_p.P260S|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	260						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTTCCACTGGAACACCTTCA	0.363000														50			5		0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72942158	72942158	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:72942158G>T	uc003xza.3	-	23	3090	c.2915C>A	c.(2914-2916)tCa>tAa	p.S972*	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	972						integral to plasma membrane		p.S972T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CCTCTTCAATGATGCATGTTT	0.388000														70			11		1.08611e-07	1.09791e-07	1	1	0
IL12RB1	3594	broad.mit.edu	37	19	18179295	18179295	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:18179295C>T	uc002nhx.1	-	11	1402	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	IL12RB1_uc002nhw.1_Missense_Mutation_p.E411K|IL12RB1_uc010xqb.1_Missense_Mutation_p.E411K	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	411	Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TAACACTTTTCCTGCCCCATT	0.532000														215			8		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482555	140482555	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140482555C>T	uc003lio.3	+	0	2322	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	774					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCGTTGCTCAGG	0.507000														118			19		0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105582194	105582194	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:105582194C>T	uc010swu.1	-	16	1727	c.1509G>A	c.(1507-1509)cgG>cgA	p.R503R	APPL2_uc010swt.2_Silent_p.R454R|APPL2_uc001tlf.1_Silent_p.R497R|APPL2_uc001tlg.1_Silent_p.R251R|APPL2_uc009zuq.3_Silent_p.R454R	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	497	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATCCCAAAAACCGAACTATAA	0.428000														55			6		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27233714	27233714	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:27233714C>T	uc010hfk.3	-	4	476	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	NEK10_uc003cds.1_Missense_Mutation_p.E168K|NEK10_uc010hfj.3_Missense_Mutation_p.E83K			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	771							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E771K(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGACGAGCTTCCGCATCAGGA	0.408000														74			7		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546725	11546725	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:11546725C>T	uc010shk.1	-	2	322	c.287G>A	c.(286-288)gGa>gAa	p.G96E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.G95A(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGTGG	0.612000														628			22		0	0	1	0	0
COQ5	84274	broad.mit.edu	37	12	120966895	120966895	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:120966895C>T	uc001tyn.3	-	0	70	c.50G>A	c.(49-51)tGg>tAg	p.W17*	COQ5_uc010szj.2_Nonsense_Mutation_p.W17*	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	Homo sapiens coenzyme Q5 homolog, methyltransferase (S. cerevisiae) (COQ5), nuclear gene encoding mitochondrial protein, mRNA.	17					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	p.G16E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCCCGCGACCACCCACGGCC	0.652000														52			9		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348218	89348218	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:89348218G>A	uc002fmx.1	-	8	5193	c.4732C>T	c.(4732-4734)Ctg>Ttg	p.L1578L	ANKRD11_uc002fmy.1_Silent_p.L1578L|ANKRD11_uc002fnc.1_Silent_p.L1578L|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.L1535L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1578	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GTCATCATCAGGTCGCCGTCC	0.577000														80			8		0	0	1	0	0
FAM58BP	339521	broad.mit.edu	37	1	200183057	200183057	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:200183057G>A	uc009wzi.1	+	0	402	c.366G>A	c.(364-366)cgG>cgA	p.R122R		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	122					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						GGGAGCTCCGGGACAGCATTG	0.572000														133			11		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74006137	74006137	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:74006137G>A	uc010wss.1	-	21	3443	c.3215C>T	c.(3214-3216)tCg>tTg	p.S1072L	EVPL_uc002jqi.2_Missense_Mutation_p.S1050L|EVPL_uc010wst.1_Missense_Mutation_p.S520L	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1050	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CAGCCGGGCCGAGATGACGGC	0.637000														193			9		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626876	108626876	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:108626876G>A	uc002tdv.3	+	8	1578	c.1302G>A	c.(1300-1302)ggG>ggA	p.G434G	SLC5A7_uc010ywm.2_Silent_p.G187G|SLC5A7_uc010fjj.3_Silent_p.G434G|SLC5A7_uc010ywn.2_Silent_p.G321G	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	434					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)	ACACCTATGGGGCCGTGGCAG	0.493000														101			7		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567036	4567036	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:4567036G>C	uc010qyf.2	+	0	616	c.616G>C	c.(616-618)Ggc>Cgc	p.G206R		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGAGCATCGGCTTTCTGGT	0.502000														261			11		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3777981	3777981	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:3777981G>A	uc002cvv.3	-	30	7271	c.7067C>T	c.(7066-7068)tCc>tTc	p.S2356F	CREBBP_uc002cvw.3_Missense_Mutation_p.S2318F	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	2356					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGAGGCTGGGACTGGGGCCG	0.667000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							119			17		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33142311	33142311	+	Missense_Mutation	SNP	C	T	T	rs121912948		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:33142311C>T	uc003ocx.1	-	30	2651	c.2423G>A	c.(2422-2424)gGa>gAa	p.G808E	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G722E|COL11A2_uc003ocz.1_Missense_Mutation_p.G701E	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	808	Triple-helical region.		G -> E (in DFNA13).		cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CACCTTGGGTCCCTGACGTCC	0.602000														27			3		0	0	1	0	0
ZNF295	49854	broad.mit.edu	37	21	43411620	43411620	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr21:43411620G>A	uc021wjo.1	-	0	2585	c.2585C>T	c.(2584-2586)tCt>tTt	p.S862F	ZNF295_uc002yzz.4_Missense_Mutation_p.S661F|ZNF295_uc002zab.4_Missense_Mutation_p.S862F|ZNF295_uc002yzy.4_Missense_Mutation_p.S862F|ZNF295_uc002zaa.4_Missense_Mutation_p.S862F	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	862					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						GGGAAGACAAGAGGAATCTTC	0.488000														189			11		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79423632	79423632	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:79423632G>A	uc001xun.3	+	7	1695	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.E527K	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	172					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAATGACAACGAGTGGCACAC	0.473000														152			10		0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170204061	170204061	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:170204061G>A	uc003fgz.2	-	4	1172	c.856C>T	c.(856-858)Cct>Tct	p.P286S	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	286						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ATAGCATAAGGGATGGACGTG	0.537000														82			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166458	140166458	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140166458G>A	uc003lhb.2	+	0	583	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	PCDHAC2_uc003lha.2_Missense_Mutation_p.E195K|PCDHAC2_uc003lgz.3_Missense_Mutation_p.E195K	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	210	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)			TCTTTGGCTTGAATTGAGAAA	0.438000														102			13		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92733395	92733395	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:92733395G>A	uc003umf.3	-	2	2286	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F	SAMD9_uc003umg.3_Silent_p.F672F|SAMD9_uc022ahg.1_Silent_p.F672F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	672						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAATTCAAGGAATTTATTTT	0.378000														135			16		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13714594	13714594	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:13714594C>T	uc003jfd.2	-	74	13087	c.13045G>A	c.(13045-13047)Gat>Aat	p.D4349N	DNAH5_uc003jfc.2_Missense_Mutation_p.D517N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4349					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D4349Y(2)		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)					CGGGTCTCATCCCCTCCACCA	0.587000									Kartagener syndrome					138			16		0	0	1	0	0
GNB5	10681	broad.mit.edu	37	15	52439677	52439677	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:52439677G>A	uc002abt.1	-	5	538	c.473C>T	c.(472-474)tCg>tTg	p.S158L	GNB5_uc002abr.1_Missense_Mutation_p.S116L|GNB5_uc002abs.1_Intron	NM_016194	NP_057278	O14775	GBB5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta 5 (GNB5), transcript variant 2, mRNA.	158						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GGCACATCCCGATGGGGCATA	0.468000														135			16		0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134632371	134632371	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:134632371G>A	uc003vrz.3	+	7	2111	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	CALD1_uc003vry.3_Missense_Mutation_p.E294K|CALD1_uc003vsb.3_Missense_Mutation_p.E294K|CALD1_uc011kpt.2_Missense_Mutation_p.E68K|CALD1_uc010lmm.3_Missense_Mutation_p.E320K|CALD1_uc003vsc.3_Missense_Mutation_p.E314K|CALD1_uc003vsd.3_Missense_Mutation_p.E288K|CALD1_uc011kpu.2_Missense_Mutation_p.E299K|CALD1_uc011kpv.2_Missense_Mutation_p.E158K|CALD1_uc003vse.3_Missense_Mutation_p.E413K	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	549					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GACCGAGAGCGAAGAGTTCGA	0.617000														11			3		0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50464072	50464072	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:50464072G>A	uc010ybh.2	-	1	288	c.197C>T	c.(196-198)tCt>tTt	p.S66F	SIGLEC11_uc010ybi.2_Missense_Mutation_p.S66F	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	66	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGCAGCAGTAGACTCGTCCCA	0.582000														60			9		0	0	1	0	0
C12orf77	196415	broad.mit.edu	37	12	25149226	25149226	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:25149226C>T	uc001rgf.3	-	1	256	c.51G>A	c.(49-51)aaG>aaA	p.K17K		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA.	17										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TGCTGGCTTCCTTTATGACTA	0.423000														76			6		0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130025015	130025015	+	Silent	SNP	G	A	A	rs34843162	byFrequency	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:130025015G>A	uc003vpx.3	+	7	888	c.816G>A	c.(814-816)tcG>tcA	p.S272S	CPA1_uc003vpw.2_Silent_p.S106S	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	272					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.S272L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACCCCTGCTCGGAGACTTACC	0.552000														98			23		0	0	1	0	0
GYG1	2992	broad.mit.edu	37	3	148714596	148714596	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:148714596C>T	uc003ewn.3	+	3	619	c.386C>T	c.(385-387)cCt>cTt	p.P129L	GYG1_uc011bnp.2_Missense_Mutation_p.P129L|GYG1_uc003ewo.3_Missense_Mutation_p.P129L|GYG1_uc003ewp.3_Missense_Mutation_p.P129L	NM_004130	NP_004121	P46976	GLYG_HUMAN	Homo sapiens glycogenin 1 (GYG1), transcript variant 1, mRNA.	129					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CCAGGGTGGCCTGACTGCTTC	0.433000														102			5		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883851	228883851	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:228883851C>T	uc002vpq.2	-	6	1766	c.1719G>A	c.(1717-1719)ctG>ctA	p.L573L	SPHKAP_uc002vpp.2_Silent_p.L573L|SPHKAP_uc010zlx.1_Silent_p.L573L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	573						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCTTTCACCCAGACCACAGA	0.552000														192			20		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058840	79058840	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:79058840C>T	uc002bej.4	-	18	3624	c.3413G>A	c.(3412-3414)gGc>gAc	p.G1138D	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1138					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGGGGAGCGGCCGGCCTGGCT	0.672000														10			3		0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18882979	18882979	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:18882979C>T	uc002guw.3	-	3	865	c.698G>A	c.(697-699)aGa>aAa	p.R233K	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	233										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCTCCGCACTCTGAGATTCTG	0.592000														139			11		0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102564653	102564653	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:102564653C>T	uc001phd.1	-	7	1200	c.1177G>A	c.(1177-1179)Ggc>Agc	p.G393S		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	393	Hemopexin-like 3.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CACCAAATGCCCACAAAGAAG	0.363000														107			8		0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69521799	69521799	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:69521799C>T	uc004dyg.3	+	5	709	c.566C>T	c.(565-567)tCc>tTc	p.S189F	KIF4A_uc010nkw.3_Missense_Mutation_p.S189F|KIF4A_uc004dyf.2_Missense_Mutation_p.S189F	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	189	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GATACTGTTTCCTGTTTGGAA	0.438000														132			21		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43307487	43307487	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:43307487G>A	uc003oux.3	-	9	4327	c.4249C>T	c.(4249-4251)Cta>Tta	p.L1417L	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1417					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GACCCTTTTAGAATCACCTCT	0.483000														66			8		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505256	195505256	+	Silent	SNP	G	A	A	rs140469862		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:195505256G>A	uc021xjp.1	-	2	13017	c.12861C>T	c.(12859-12861)tcC>tcT	p.S4287S	MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Silent_p.S28S|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Silent_p.S28S|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Silent_p.S51S|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1044					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGATGGTCTGGGAGGTTGTGG	0.592000														78			5		0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153186238	153186238	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:153186238G>A	uc004fjk.2	-	4	581	c.523C>T	c.(523-525)Cac>Tac	p.H175Y	ARHGAP4_uc011mzf.2_Missense_Mutation_p.H152Y|ARHGAP4_uc004fjl.2_Missense_Mutation_p.H175Y|ARHGAP4_uc010nup.2_Non-coding_Transcript	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	175					Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCTCCATGTGATATGCCTGG	0.677000														116			12		0	0	1	0	0
DNASE2	1777	broad.mit.edu	37	19	12989323	12989323	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:12989323G>A	uc002mvn.1	-	4	728	c.582C>T	c.(580-582)ttC>ttT	p.F194F	DNASE2_uc010xmr.1_Silent_p.F139F	NM_001375	NP_001366	O00115	DNS2A_HUMAN	Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA.	194					apoptosis	lysosome	DNA binding|deoxyribonuclease II activity|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CCAAGTCGGGGAATTCCTGGG	0.562000														70			8		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215884074	215884074	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:215884074G>A	uc002vew.3	-	12	1863	c.1643C>T	c.(1642-1644)gCt>gTt	p.A548V	ABCA12_uc002vev.3_Missense_Mutation_p.A230V|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	548					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTTCAGAAGCATCTGCACT	0.378000														63			8		0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55883624	55883624	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:55883624C>T	uc021tir.1	-	11	1568	c.1422G>A	c.(1420-1422)acG>acA	p.T474T	CES5A_uc002eip.2_Silent_p.T445T|CES5A_uc002eio.2_Intron|CES5A_uc002eiq.2_Silent_p.T206T|CES5A_uc002eir.2_Silent_p.T339T	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	445						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AAGCTGGCTTCGTGTCTTCAA	0.537000														163			16		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239179979	239179979	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:239179979G>A	uc002vyc.3	-	5	983	c.746C>T	c.(745-747)cCc>cTc	p.P249L	PER2_uc010znv.1_Missense_Mutation_p.P249L|PER2_uc010znw.1_Missense_Mutation_p.P249L|PER2_uc010fyx.1_Missense_Mutation_p.P249L	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	249					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCTCCACAAGGGAAGCTTGTA	0.577000														192			10		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38884058	38884058	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:38884058G>A	uc003jln.2	+	4	950	c.548G>A	c.(547-549)gGg>gAg	p.G183E	OSMR_uc003jlm.2_Missense_Mutation_p.G183E	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	183					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TATTTGGAAGGGAAACAGATT	0.363000														113			8		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77300481	77300481	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:77300481C>T	uc004aji.3	+	9	1409	c.1360C>T	c.(1360-1362)Cct>Tct	p.P454S	RORB_uc004ajh.3_Missense_Mutation_p.P443S	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	454	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TACACTGTTTCCTCCGTTATA	0.453000														141			17		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223402632	223402632	+	Missense_Mutation	SNP	C	T	T	rs141716617	by1000genomes	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:223402632C>T	uc001hnx.3	-	4	1457	c.823G>A	c.(823-825)Gat>Aat	p.D275N	SUSD4_uc001hny.4_Missense_Mutation_p.D275N|SUSD4_uc010puw.2_Missense_Mutation_p.D115N	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	275	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TAGCCAGGATCGCAGTAAAAC	0.517000														112			12		0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769552	112769552	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:112769552C>T	uc003kqm.2	-	0	1177	c.985G>A	c.(985-987)Gag>Aag	p.E329K	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	329					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GCTGTCCCCTCGGGTTTTGTC	0.617000														26			6		0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1420737	1420737	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:1420737C>T	uc003jck.3	-	5	1000	c.874G>A	c.(874-876)Gac>Aac	p.D292N		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	292					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CTGATGCCGTCTATGGCTCCA	0.597000														152			13		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751276	162751276	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:162751276C>T	uc002ubx.4	+	10	1466	c.1282C>T	c.(1282-1284)Cct>Tct	p.P428S	SLC4A10_uc010fpa.1_Missense_Mutation_p.P440S|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.P409S|SLC4A10_uc002uby.4_Missense_Mutation_p.P398S	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	428					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TACTGTTCTCCCTCCTGGAGA	0.363000														70			8		0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42796837	42796837	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:42796837C>T	uc003osn.1	+	5	917	c.766C>T	c.(766-768)Cat>Tat	p.H256Y	KIAA0240_uc003osm.1_Missense_Mutation_p.H256Y|KIAA0240_uc011duw.1_Missense_Mutation_p.H256Y|KIAA0240_uc003oso.1_Missense_Mutation_p.H256Y|KIAA0240_uc003osp.1_Missense_Mutation_p.H256Y	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	256										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			GCTCCTGGTTCATAGACAGAC	0.448000														119			15		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49218716	49218716	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:49218716C>T	uc010zyt.2	-	12	1803	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.E514K|FAM65C_uc002xvn.1_Missense_Mutation_p.E514K	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	514										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAGGCCCCTCGAGGGCCACG	0.697000														35			8		0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558296	106558296	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:106558296G>A	uc009yxn.1	-	8	2661	c.2271C>T	c.(2269-2271)ttC>ttT	p.F757F	GUCY1A2_uc001pjg.1_Silent_p.F726F|GUCY1A2_uc010rvo.1_Silent_p.F747F	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	726					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TCTCCCGGAGGAACATGGTGC	0.493000														143			16		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100364790	100364790	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:100364790C>T	uc003uwj.3	+	24	4935	c.4770C>T	c.(4768-4770)cgC>cgT	p.R1590R	ZAN_uc003uwk.3_Silent_p.R1590R|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Silent_p.R167R	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1590	VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGAGAACCGCGGGGGGATCC	0.572000														63			14		0	0	1	0	0
ZNF76	7629	broad.mit.edu	37	6	35258483	35258483	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:35258483C>T	uc003oki.1	+	6	820	c.615C>T	c.(613-615)gcC>gcT	p.A205A	ZNF76_uc011dsy.1_Silent_p.A205A|ZNF76_uc011dsz.1_Silent_p.A205A|ZNF76_uc003okj.1_Silent_p.A205A	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	205					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GTGGAAAGGCCTTTGCCACAG	0.547000														164			22		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912638	150912638	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:150912638G>A	uc004fey.1	+	6	1887	c.1663G>A	c.(1663-1665)Gat>Aat	p.D555N		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	555					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCAAGGATGATCTTATGGA	0.493000														252			25		0	0	1	0	0
LOC401127	401127	broad.mit.edu	37	4	39482584	39482584	+	RNA	SNP	T	C	C	rs17438520	by1000genomes	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:39482584T>C	uc011byn.2	+	0		c.710T>C								Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.																		GCCACAAGACTGCTAGCTCAC	0.453000														71			4		0	0	1	0	0
NAIF1	203245	broad.mit.edu	37	9	130828906	130828906	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:130828906C>T	uc004bta.3	-	0	694	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	SLC25A25_uc004btb.3_5'Flank	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	Homo sapiens nuclear apoptosis inducing factor 1 (NAIF1), mRNA.	159					apoptosis|induction of apoptosis	nucleus		p.A159T(2)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCTGCGGTGGCCGAGGGTCCG	0.657000														55			18		0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2774958	2774958	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:2774958G>A	uc002wgu.3	-	13	2157	c.2083C>T	c.(2083-2085)Ccc>Tcc	p.P695S	CPXM1_uc010gas.3_Missense_Mutation_p.P621S	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	695					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AAATTGCAGGGGAAGGGGCCC	0.642000														91			8		0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060459	16060459	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:16060459C>T	uc010xov.2	+	0	642	c.642C>T	c.(640-642)ttC>ttT	p.F214F		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GCTGTTTATTCCTCATCATCC	0.488000														306			28		0	0	1	0	0
AWAT1	158833	broad.mit.edu	37	X	69455673	69455673	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:69455673G>A	uc004dxy.3	+	2	225	c.184_splice	c.e2+1	p.G62_splice		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 1 (AWAT1), mRNA.	62					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CCCAGAGCGAGGTAAGACTCA	0.522000														127			18		0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70721046	70721046	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:70721046C>T	uc003heo.3	-	2	357	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	SULT1E1_uc010ihv.1_Missense_Mutation_p.E82K	NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	82					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TTTCTGCATTCCAGGAAAGGT	0.333000														37			5		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24170996	24170996	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:24170996C>T	uc003xdy.3	+	5	562	c.479C>T	c.(478-480)cCt>cTt	p.P160L	ADAM28_uc003xdx.3_Missense_Mutation_p.P160L|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	160					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGTATAACCCTGATGAAAAG	0.473000														131			17		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762237	24762237	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:24762237G>A	uc001iru.4	+	5	1330	c.927G>A	c.(925-927)gcG>gcA	p.A309A	KIAA1217_uc001irs.3_Silent_p.A229A|KIAA1217_uc001irt.4_Silent_p.A309A|KIAA1217_uc010qcy.2_Silent_p.A309A|KIAA1217_uc010qcz.2_Silent_p.A309A|KIAA1217_uc001irv.1_Silent_p.A159A|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.A27A|KIAA1217_uc001irz.3_Silent_p.A27A|KIAA1217_uc001irx.3_Silent_p.A27A|KIAA1217_uc001iry.3_Silent_p.A27A	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	309	Pro-rich.				embryonic skeletal system development	cytoplasm		p.A309V(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CACCCCATGCGATTCCAAATT	0.567000														149			18		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160808026	160808026	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:160808026C>T	uc002ube.2	-	23	3577	c.3365G>A	c.(3364-3366)gGa>gAa	p.G1122E	PLA2R1_uc010zcp.2_Missense_Mutation_p.G1122E|PLA2R1_uc002ubf.3_Missense_Mutation_p.G1122E	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1122	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGTTCTGTTTCCATATTCTAA	0.378000														106			9		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197090573	197090573	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:197090573G>A	uc002utm.1	-	22	4122	c.3939C>T	c.(3937-3939)atC>atT	p.I1313I	HECW2_uc002utl.1_Silent_p.I957I	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1313	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CAAGACCAAGGATCCTACCAC	0.423000														61			8		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98816131	98816131	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:98816131C>T	uc001kmw.2	-	12	1500	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	SLIT1_uc009xvh.1_Silent_p.K426K	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	416					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGCTCTGGATCTTGTTGTCAT	0.597000														182			13		0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128615876	128615876	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:128615876G>A	uc010lly.2	-	16	2680	c.2277C>T	c.(2275-2277)ctC>ctT	p.L759L	TNPO3_uc010llx.2_Silent_p.L136L|TNPO3_uc003vol.2_Silent_p.L725L|TNPO3_uc010llz.2_Silent_p.L661L|TNPO3_uc003vom.2_Silent_p.L659L	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	725					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AAGATACCTGGAGCATGTCTA	0.483000														71			8		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53564540	53564540	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:53564540G>A	uc004dsp.3	-	77	12516	c.12114C>T	c.(12112-12114)tcC>tcT	p.S4038S	HUWE1_uc004dsn.3_Silent_p.S2846S|HUWE1_uc004dsq.1_Silent_p.S338S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	4038	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTTCTTCGGGGGATTTGCGAT	0.547000														43			4		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140358635	140358635	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:140358635G>A	uc010ncj.1	-	27	3506	c.3169C>T	c.(3169-3171)Cct>Tct	p.P1057S	PNPLA7_uc004cnd.1_Missense_Mutation_p.P298S|PNPLA7_uc004cne.1_Missense_Mutation_p.P298S|PNPLA7_uc011mfa.1_Missense_Mutation_p.P440S|PNPLA7_uc004cnf.2_Missense_Mutation_p.P1032S	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1032	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCGAAATAAGGAATCCACAGG	0.672000														56			4		0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7802272	7802272	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:7802272C>T	uc001qtb.3	-	4	616	c.582G>A	c.(580-582)aaG>aaA	p.K194K	APOBEC1_uc001qtc.3_Silent_p.K149K	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	194					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding	p.K194K(2)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTCTTGAAATCTTTAAACAGG	0.313000														45			4		0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9496973	9496973	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:9496973C>T	uc002wni.2	+	3	935	c.440C>T	c.(439-441)tCc>tTc	p.S147F	LAMP5_uc010zrc.2_Missense_Mutation_p.S103F	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	147						integral to membrane											GTCTACGACTCCTCGGAGAAA	0.577000														133			10		0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25921482	25921482	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:25921482G>A	uc011dkb.2	-	2	482	c.399C>T	c.(397-399)acC>acT	p.T133T	SLC17A2_uc011dkc.2_Silent_p.T133T|SLC17A2_uc003nfl.3_Silent_p.T133T			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	133					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GTGTAAAGAGGGTGAGAAGGG	0.463000														91			12		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8587408	8587408	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:8587408C>T	uc002mkg.3	-	26	3211	c.3073G>A	c.(3073-3075)Ggg>Agg	p.G1025R		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	1025						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGCCGTTGCCCCACGCTGCGC	0.672000														33			3		0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42192053	42192053	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:42192053G>A	uc002ori.1	-	0	44	c.42C>T	c.(40-42)ccC>ccT	p.P14P	CEACAM7_uc010ehx.2_Silent_p.P14P|CEACAM7_uc010ehy.1_Silent_p.P14P	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	14						anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GCCCCTGCCAGGGAATGCACA	0.627000														62			4		0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23818466	23818466	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:23818466G>A	uc001rfw.3	-	6	945	c.843C>T	c.(841-843)ccC>ccT	p.P281P	SOX5_uc001rfx.3_Silent_p.P268P|SOX5_uc001rfy.3_Silent_p.P268P|SOX5_uc010siv.2_Silent_p.P268P|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Silent_p.P233P	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	281					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P281P(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GAGGGAATACGGGAATCATTA	0.512000														217			18		0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751407	26751407	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:26751407G>A	uc003cdp.3	+	1	833	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	LRRC3B_uc003cdq.3_Missense_Mutation_p.E82K|LRRC3B_uc021wuj.1_Missense_Mutation_p.E82K	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	82						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TATTCCCAATGAAATTTTTAA	0.408000														60			5		0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4535500	4535500	+	Silent	SNP	T	C	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:4535500T>C	uc002fyh.3	-	11	1642	c.1617A>G	c.(1615-1617)caA>caG	p.Q539Q	ALOX15_uc010vsd.2_Silent_p.Q500Q|ALOX15_uc010vse.2_Silent_p.Q561Q	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	539	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CAGAGGCGTGTTGGCCGGTGC	0.582000														84			5		0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156764950	156764950	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:156764950G>A	uc003ipe.1	-	4	791	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	248						integral to membrane|plasma membrane											CAGCATCAACGAAACCAAGGG	0.413000														79			7		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175348711	175348711	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:175348711G>A	uc001gkp.1	-	6	2021	c.1940C>T	c.(1939-1941)cCa>cTa	p.P647L	TNR_uc009wwu.1_Missense_Mutation_p.P647L	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	647	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTGGTGGTTGGACCAATGCC	0.537000														97			8		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325318	31325318	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:31325318G>A	uc010dmg.1	+	11	5561	c.5506G>A	c.(5506-5508)Gga>Aga	p.G1836R	ASXL3_uc002kxq.2_Missense_Mutation_p.G1543R	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1836					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TAGGACTGTAGGAGAACACAC	0.483000														326			39		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439343	150439343	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:150439343G>A	uc022apw.1	+	5	868	c.728G>A	c.(727-729)gGg>gAg	p.G243E	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.G39E	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		ACAGGCTGCGGGAAAAGTGCC	0.507000														126			6		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174830	150174830	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:150174830G>A	uc003whj.3	+	4	2290	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	654						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTCCCAAGCCGAAAAACTCCT	0.463000														108			22		0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523926	95523926	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:95523926G>A	uc003ygo.2	-	12	2948	c.2877C>T	c.(2875-2877)gcC>gcT	p.A959A	KIAA1429_uc003ygp.3_Silent_p.A959A|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	959					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GCTGAATAACGGCAAGATTCC	0.328000														62			4		0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048614	6048614	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:6048614C>T	uc010qzw.2	-	0	358	c.321G>A	c.(319-321)caG>caA	p.Q107Q		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGAACATCTGGAGGAAGC	0.552000														123			6		0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044538	75044538	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:75044538C>T	uc002ayr.1	+	4	1180	c.1116C>T	c.(1114-1116)atC>atT	p.I372I		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	372					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AGGCCTTCATCCTGGAGACCT	0.602000														236			21		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872957	55872957	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:55872957G>A	uc010riy.2	+	0	439	c.439G>A	c.(439-441)Ggg>Agg	p.G147R		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TCTCATCACTGGGCCTTATGT	0.453000										HNSCC(53;0.14)				311			20		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89868008	89868009	+	Splice_Site	DNP	GG	AA	AA			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:89868008_89868009GG>AA	uc001pdf.4	+	1	191	c.82_splice	c.e1+1	p.G28_splice	NAALAD2_uc009yvx.3_Splice_Site_p.G28_splice|NAALAD2_uc009yvy.3_Splice_Site_p.G28_splice|NAALAD2_uc001pdd.2_Splice_Site_p.G28_splice|NAALAD2_uc001pde.3_Splice_Site_p.G28_splice	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	28					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATTTATGGTGGGTAAGTGAACA	0.554000														99			5		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153224030	153224030	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:153224030G>A	uc004fjp.3	-	9	2321	c.1793C>T	c.(1792-1794)tCg>tTg	p.S598L		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	598					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGACTGGCGAGGAGGCCAC	0.602000														257			27		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20569182	20569182	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:20569182C>T	uc003gpr.1	+	27	3096	c.2892C>T	c.(2890-2892)aaC>aaT	p.N964N	SLIT2_uc003gps.1_Silent_p.N956N	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	964	EGF-like 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCATCAGTAACCCATGTAAAC	0.458000														64			5		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192700701	192700701	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:192700701G>A	uc002utb.3	-	1	1581	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	409						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GTCCCCATCGGAGCGCTCCGC	0.627000														97			14		0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275399	58275399	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:58275399G>A	uc010rki.2	-	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTTACTGAGGAAAAAGTACA	0.502000														96			7		0	0	1	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50683641	50683641	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:50683641C>T	uc003day.2	+	9	1417	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	MAPKAPK3_uc003daz.2_Missense_Mutation_p.R259C|MAPKAPK3_uc003dba.2_Missense_Mutation_p.R259C|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.R259C	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	259	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GAGGAGGATTCGCCTGGGCCA	0.602000														258			11		0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9631487	9631487	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:9631487C>T	uc010cod.3	+	14	2552	c.2552C>T	c.(2551-2553)tCg>tTg	p.S851L	USP43_uc002gma.4_Missense_Mutation_p.S540L|USP43_uc010vva.2_Missense_Mutation_p.S846L|USP43_uc010coe.3_Missense_Mutation_p.S648L|USP43_uc002gmc.4_Missense_Mutation_p.S363L	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	851					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						TCCATTGTGTCGCTGTTGACG	0.582000														39			10		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7574331	7574331	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:7574331G>A	uc003mxp.1	+	15	2422	c.2143G>A	c.(2143-2145)Gat>Aat	p.D715N	DSP_uc003mxq.1_Missense_Mutation_p.D715N|DSP_uc021yle.1_Missense_Mutation_p.D715N	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	715	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGTGCAGAATGATTCACAAGC	0.333000														65			4		0	0	1	0	0
GSG1L	146395	broad.mit.edu	37	16	27895832	27895832	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:27895832G>A	uc002doz.2	-	2	610	c.525C>T	c.(523-525)ttC>ttT	p.F175F	GSG1L_uc010bya.1_Intron|GSG1L_uc010bxz.1_Silent_p.F20F|GSG1L_uc002doy.2_Silent_p.F20F	NM_001109763	NP_653276	Q6UXU4	GSG1L_HUMAN	Homo sapiens GSG1-like (GSG1L), transcript variant 1, mRNA.	175						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						AGACAGCCGCGAAGGCATTGA	0.577000														28			7		0	0	1	0	0
RDH12	145226	broad.mit.edu	37	14	68191190	68191190	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:68191190G>A	uc001xjz.4	+	4	393	c.69_splice	c.e4-1	p.R23_splice		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	Homo sapiens retinol dehydrogenase 12 (all-trans/9-cis/11-cis) (RDH12), mRNA.	23					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TTGCCGATAGGAAGTTCTTTG	0.468000														168			9		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8665694	8665694	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:8665694C>T	uc002wnb.3	+	9	981	c.978C>T	c.(976-978)ttC>ttT	p.F326F	PLCB1_uc010zrb.1_Silent_p.F225F|PLCB1_uc002wna.3_Silent_p.F326F|PLCB1_uc002wnc.1_Silent_p.F225F	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	326	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.Y325F(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTCACTATTTCATTAATTCCT	0.413000														186			36		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76937319	76937319	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:76937319C>T	uc004ecp.4	-	8	3661	c.3429G>A	c.(3427-3429)aaG>aaA	p.K1143K	ATRX_uc004ecq.4_Silent_p.K1105K|ATRX_uc004eco.4_Silent_p.K928K|ATRX_uc004ecr.2_Silent_p.K1075K|ATRX_uc010nlx.1_Silent_p.K1114K|ATRX_uc010nly.1_Silent_p.K1088K	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1143					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TAGTATTTCTCTTTGAACTTA	0.318000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							117			9		0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														55			4		0	0	1	0	0
FTX	100302692	broad.mit.edu	37	X	73251430	73251430	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:73251430C>T	uc010nlq.1	-	6		c.940_splice	c.e6+1		JPX_uc004ebp.3_Intron					Homo sapiens FTX transcript, XIST regulator (non-protein coding) (FTX), non-coding RNA.																		AACCAACTTACCATTGCTCTG	0.527000														71			9		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183664489	183664489	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:183664489C>T	uc003ivd.1	+	17	3621	c.3546C>T	c.(3544-3546)atC>atT	p.I1182I	ODZ3_uc003ive.1_Silent_p.I588I	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1182					signal transduction	integral to membrane		p.G1181V(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CTTGTGGGATCGATGGCAGTC	0.498000														92			9		0	0	1	0	0
CLDN11	5010	broad.mit.edu	37	3	170140979	170140979	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:170140979G>A	uc003fgx.3	+	1	457	c.255G>A	c.(253-255)atG>atA	p.M85I	CLDN11_uc011bpt.1_Missense_Mutation_p.M85I|CLDN11_uc003fgy.3_Missense_Mutation_p.M1I	NM_005602	NP_001171985	O75508	CLD11_HUMAN	Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA.	85					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCGCCCTGATGATTGCTGCCT	0.607000														289			17		0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38894457	38894457	+	Silent	SNP	C	T	T	rs148438451		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr22:38894457C>T	uc003avy.4	-	3	763	c.660G>A	c.(658-660)ggG>ggA	p.G220G	DDX17_uc003avx.4_Silent_p.G220G|DDX17_uc011anu.2_Silent_p.G133G	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	141	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					CCAACGTCTTCCCAGAGCCAG	0.458000														122			14		0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145736915	145736915	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:145736915C>T	uc003zdj.3	-	21	3568	c.3526G>A	c.(3526-3528)Gtg>Atg	p.V1176M		NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	1176					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGCCCGTACACCTGGGCCGGG	0.682000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome					48			4		0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90178512	90178512	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:90178512C>T	uc001dnl.4	+	2	625	c.383C>T	c.(382-384)cCt>cTt	p.P128L		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	128						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAGTATTTCCCTTACCTTGTC	0.428000														142			12		0	0	1	0	0
NUDT15	55270	broad.mit.edu	37	13	48619797	48619797	+	Splice_Site	SNP	T	C	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr13:48619797T>C	uc001vbw.1	+	3	536	c.356_splice	c.e3-1	p.S119_splice		NM_018283	NP_060753	Q9NV35	NUD15_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 15 (NUDT15), mRNA.	119	Interaction with PCNA.|Nudix hydrolase.						hydrolase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		CTTTTCTAGGTTGGGAGTGGG	0.358000														84			10		0	0	1	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														106			14		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815707	158815707	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:158815707G>A	uc001fsz.1	+	4	1101	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	301	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAGAATTATCGAAATAGCAAA	0.338000														66			7		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529114	57529114	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:57529114G>A	uc011kdi.1	+	3	1059	c.947G>A	c.(946-948)aGa>aAa	p.R316K		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AACCACAAGAGAATTCATACT	0.408000														44			10		0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145894722	145894722	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:145894722C>T	uc003lod.1	-	0	955	c.955G>A	c.(955-957)Ggt>Agt	p.G319S		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	319						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCATACACCTTTCAAGCCT	0.448000														56			5		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428104	10428104	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:10428104C>T	uc010coi.3	-	33	5069	c.4941G>A	c.(4939-4941)agG>agA	p.R1647R	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.R1647R|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1647					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTGTAGTTCCTCAGGGCCT	0.502000														213			27		0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228829	57228829	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:57228829C>T	uc010lyk.1	-	1	716	c.78G>A	c.(76-78)atG>atA	p.M26I	SDR16C5_uc003xsy.1_Missense_Mutation_p.M26I|SDR16C5_uc010lyl.1_Missense_Mutation_p.M26I	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	26					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						AGGCAAAAATCATAGCCTCCA	0.448000														84			10		0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7844984	7844984	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:7844984G>A	uc011bwk.1	-	4	701	c.428C>T	c.(427-429)tCc>tTc	p.S143F	AFAP1_uc003gkg.1_Missense_Mutation_p.S143F	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	143						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GGCCTCCTCGGAGGGCCACTG	0.557000														82			5		0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32756547	32756547	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr22:32756547G>A	uc003amj.3	+	1	887	c.682G>A	c.(682-684)Gcc>Acc	p.A228T	RFPL3_uc010gwn.3_Missense_Mutation_p.A199T|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	228	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CCGCCTCTCTGCCAGCACGGT	0.517000														154			24		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423969	56423969	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:56423969A>G	uc010ygg.2	-	4	1239	c.1214T>C	c.(1213-1215)gTt>gCt	p.V405A		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	405	NACHT.						ATP binding	p.E404D(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GATTTTCTCAACTTCACTTGA	0.458000														115			13		0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14513596	14513596	+	Silent	SNP	A	G	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:14513596A>G	uc002myl.3	+	11	1751	c.1371A>G	c.(1369-1371)gaA>gaG	p.E457E	CD97_uc002mym.3_Silent_p.E408E|CD97_uc002myn.3_Silent_p.E364E	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	457					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACACCAAGGAACTCAACTCCC	0.557000														129			17		0	0	1	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130678772	130678772	+	Splice_Site	SNP	A	C	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:130678772A>C	uc004bss.3	-	2	202	c.-74_splice	c.e2-1		ST6GALNAC4_uc004bst.3_Intron	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.						glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GGAGCCGGGCACCTGCCAAGA	0.617000														46			12		0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153451	101153451	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:101153451G>A	uc003yjd.3	-	1	1767	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L	FBXO43_uc003yje.3_Missense_Mutation_p.S310L|FBXO43_uc010mbp.2_Missense_Mutation_p.S344L	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	344					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GGAATCTTCTGATTTCTCCAA	0.428000														116			16		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67786656	67786656	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:67786656C>T	uc002aqo.2	+	19	3019	c.2922C>T	c.(2920-2922)atC>atT	p.I974I	IQCH_uc002aqp.2_Missense_Mutation_p.P615S|IQCH_uc002aqq.2_Silent_p.I631I|LOC100506686_uc002aqr.2_Intron|LOC100506686_uc021spf.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	974										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TCTTCATCATCCATCAAGAAA	0.408000														35			6		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11216168	11216168	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:11216168C>T	uc002mqk.4	+	3	773	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	LDLR_uc010xlk.2_Missense_Mutation_p.P196S|LDLR_uc010xll.2_Missense_Mutation_p.P155S|LDLR_uc021upc.1_Missense_Mutation_p.P75S|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Intron|LDLR_uc010xlm.2_Missense_Mutation_p.P49S|LDLR_uc021upd.1_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	196	LDL-receptor class A 5.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GGACAGTAGCCCCTGCTCGGC	0.622000														86			11		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157414169	157414169	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:157414169G>A	uc003wno.3	-	14	2350	c.2229C>T	c.(2227-2229)aaC>aaT	p.N743N	PTPRN2_uc003wnp.3_Silent_p.N726N|PTPRN2_uc003wnq.3_Silent_p.N714N|PTPRN2_uc003wnr.3_Silent_p.N705N|PTPRN2_uc011kwa.2_Silent_p.N766N	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	743						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)		TCTCCAGCCGGTTCTTGTTCT	0.612000														396			72		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62191389	62191389	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:62191389C>T	uc002yfm.2	-	18	8609	c.7717G>A	c.(7717-7719)Gac>Aac	p.D2573N	PRIC285_uc002yfl.1_Missense_Mutation_p.D2004N	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2573					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGCCGCTGGTCCAGGTCGCTC	0.662000														45			5		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25792133	25792133	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:25792133C>T	uc003gru.4	-	11	2172	c.2020G>A	c.(2020-2022)Gga>Aga	p.G674R	SEL1L3_uc003grv.3_Missense_Mutation_p.G81R	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	674						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGACATCTCCATCTTCTTTG	0.438000														119			8		0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891840	2891840	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:2891840A>G	uc002kln.3	+	3	1874	c.1715A>G	c.(1714-1716)gAa>gGa	p.E572G		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	572					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAAACAGGGAAGACCGCGCA	0.478000														91			10		0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063588	48063588	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:48063588A>G	uc010bek.3	+	18	3188	c.2828A>G	c.(2827-2829)aAg>aGg	p.K943R	SEMA6D_uc001zvw.3_Missense_Mutation_p.K881R|SEMA6D_uc001zvy.3_Missense_Mutation_p.K943R|SEMA6D_uc001zvz.3_Missense_Mutation_p.K887R|SEMA6D_uc001zwa.3_3'UTR|SEMA6D_uc001zwb.3_Missense_Mutation_p.K881R|SEMA6D_uc001zwc.3_Missense_Mutation_p.K868R	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	943					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGCCCAACCAAGCGAGTGGAT	0.517000														224			12		0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13885041	13885041	+	Silent	SNP	C	T	T	rs141290578		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:13885041C>T	uc002ksp.1	-	1	654	c.477G>A	c.(475-477)acG>acA	p.T159T	MC2R_uc021uhs.1_Silent_p.T159T	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	159					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGCCAGTCCCCGTGCAGAACG	0.582000														108			10		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753398	13753398	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:13753398G>A	uc003jfd.2	-	62	10858	c.10816C>T	c.(10816-10818)Cca>Tca	p.P3606S	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3606	AAA 5 (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)					TGAGTCTGTGGATCAATTAAC	0.363000									Kartagener syndrome					90			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584752	179584752	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:179584752C>T	uc021vsy.1	-	77	20110	c.19885G>A	c.(19885-19887)Gat>Aat	p.D6629N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D3290N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7556							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCCAGCATCGTTTTTGATT	0.383000														30			5		0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77844855	77844855	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:77844855G>A	uc001xtq.1	+	0	1094	c.1094G>A	c.(1093-1095)aGa>aAa	p.R365K	TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Missense_Mutation_p.R365K	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.	365										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAAGAGATAAGAAAGTCAAAT	0.378000														87			8		0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41206032	41206032	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:41206032G>A	uc002oor.2	-	11	1385	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	ADCK4_uc002oop.1_Silent_p.F38F|ADCK4_uc002ooq.2_Silent_p.F320F	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	361	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCATGAATCGGAACTCAAACA	0.532000														82			5		0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38187031	38187031	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:38187031G>A	uc003xli.3	-	5	1964	c.1446C>T	c.(1444-1446)tcC>tcT	p.S482S	WHSC1L1_uc011lbm.2_Silent_p.S482S|WHSC1L1_uc010lwe.3_Silent_p.S482S|WHSC1L1_uc003xlj.3_Silent_p.S482S	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	482					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	p.S482P(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GCATCGTAATGGAAGCTGGTA	0.488000			T	NUP98	AML									147			12		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10310224	10310224	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:10310224C>T	uc002gmm.2	-	17	2133	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	680	Actin-binding.|Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GTTTTGGTTTCATTGGGAATG	0.378000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					61			7		0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926530	22926530	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:22926530G>A	uc002dli.3	+	1	823	c.751G>A	c.(751-753)Ggc>Agc	p.G251S		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	251						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CATCCGCATCGGCATGTACGT	0.622000														170			23		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10106908	10106908	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:10106908C>T	uc002mmq.1	-	13	1539	c.1453G>A	c.(1453-1455)Ggg>Agg	p.G485R		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	485	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCAGTGAGCCCCACTGGACCA	0.597000														69			7		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123452616	123452616	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:123452616C>T	uc003ego.3	-	9	1509	c.1227G>A	c.(1225-1227)agG>agA	p.R409R	MYLK_uc011bjw.2_Silent_p.R409R|MYLK_uc003egp.3_Silent_p.R409R|MYLK_uc003egq.3_Silent_p.R409R|MYLK_uc003egr.3_Silent_p.R409R|MYLK_uc003egs.3_Silent_p.R233R	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	409					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATGCTGAATCCCTCTGGCCCT	0.542000														159			8		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111430568	111430568	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:111430568G>A	uc003vfy.3	-	31	3637	c.3368C>T	c.(3367-3369)cCa>cTa	p.P1123L	DOCK4_uc011kmm.2_5'Flank|DOCK4_uc003vfw.3_Missense_Mutation_p.P528L|DOCK4_uc003vfx.3_Missense_Mutation_p.P1087L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1087	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ATGAAAAATTGGAATCATGAC	0.473000														59			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140768801	140768801	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140768801C>T	uc003lkc.2	+	0	1350	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	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_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	454	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			CTCCGGTTTTCTCACAGTCTT	0.547000														230			14		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20453564	20453564	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:20453564C>T	uc002wrz.3	-	36	5547	c.5404G>A	c.(5404-5406)Gtg>Atg	p.V1802M	RALGAPA2_uc002wry.3_Missense_Mutation_p.V1417M|RALGAPA2_uc010zsg.2_Missense_Mutation_p.V1250M|RALGAPA2_uc002wsa.1_Missense_Mutation_p.V574M	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1802	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTCCCACTCACTATGGCTCCA	0.428000														65			6		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955776	51955776	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:51955776G>A	uc002pwt.3	-	6	1424	c.1357C>T	c.(1357-1359)Cat>Tat	p.H453Y	SIGLEC8_uc010yda.2_Missense_Mutation_p.H344Y|SIGLEC8_uc002pwu.3_Intron|SIGLEC8_uc010eox.2_Missense_Mutation_p.H360Y	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	453					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTCACTTTATGGAAGCTGAGG	0.562000														128			8		0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131546056	131546056	+	Silent	SNP	C	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:131546056C>A	uc003kwh.3	-	5	1194	c.630G>T	c.(628-630)ctG>ctT	p.L210L	P4HA2_uc003kwg.3_Silent_p.L210L|P4HA2_uc003kwi.3_Silent_p.L210L|P4HA2_uc003kwk.3_Silent_p.L210L|P4HA2_uc003kwl.3_Silent_p.L210L|P4HA2_uc003kwj.3_Silent_p.L210L	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	210						endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TGAGGTAGTCCAGCACCTGTG	0.562000														224			27		9.80776e-20	9.95042e-20	1	1	0
CHMP6	79643	broad.mit.edu	37	17	78971075	78971075	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:78971075C>T	uc002jyw.4	+	5	507	c.429C>T	c.(427-429)ctC>ctT	p.L143L		NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	Homo sapiens charged multivesicular body protein 6 (CHMP6), mRNA.	143					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TAGACGAGCTCCTGGCAGGAA	0.622000														48			12		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228032	3228032	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:3228032C>T	uc004crg.4	-	6	8369	c.8212G>A	c.(8212-8214)Gag>Aag	p.E2738K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2738	Ig-like C2-type 12.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGGTGGGCTCGCTGGTGATC	0.592000														100			6		0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50412412	50412412	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:50412412C>T	uc002prb.3	-	1	897	c.653G>A	c.(652-654)gGg>gAg	p.G218E	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Missense_Mutation_p.G218E|NUP62_uc002pqy.3_Missense_Mutation_p.G218E|NUP62_uc002pra.3_Missense_Mutation_p.G218E|NUP62_uc002pqz.3_Missense_Mutation_p.G218E|NUP62_uc002prc.3_Missense_Mutation_p.G218E|NUP62_uc021uya.1_Missense_Mutation_p.G218E	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	218	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GAGGCTGGGCCCAGTGCTGGT	0.647000														153			6		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87645093	87645093	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:87645093G>A	uc003ydx.3	-	10	1255	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*	CNGB3_uc010maj.3_Nonsense_Mutation_p.R265*	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	403			R -> Q (in macular degeneration).		signal transduction|visual perception	integral to membrane	cGMP binding	p.R403P(1)|p.R403L(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATTAAAGTTCGAACTGCCCAA	0.328000														33			4		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153077667	153077667	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:153077667G>A	uc011dcy.2	+	8	1255	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	GRIA1_uc003lva.4_Missense_Mutation_p.D400N|GRIA1_uc003luy.4_Missense_Mutation_p.D400N|GRIA1_uc003luz.4_Missense_Mutation_p.D305N|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.D320N|GRIA1_uc011dcx.2_Missense_Mutation_p.D331N|GRIA1_uc011dcz.2_Missense_Mutation_p.D410N|GRIA1_uc010jia.1_Missense_Mutation_p.D380N	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	400					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGCTGGGGGCGATAATTCAAG	0.478000														79			8		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703888	7703888	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:7703888C>T	uc002cys.2	+	11	1817	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	RBFOX1_uc010buf.1_Missense_Mutation_p.R277C|RBFOX1_uc002cyr.1_Missense_Mutation_p.R276C|RBFOX1_uc002cyt.2_Missense_Mutation_p.R250C|RBFOX1_uc010uxz.1_Missense_Mutation_p.R320C|RBFOX1_uc010uya.1_Missense_Mutation_p.R234C|RBFOX1_uc002cyv.1_Missense_Mutation_p.R277C|RBFOX1_uc010uyb.1_Missense_Mutation_p.R277C|RBFOX1_uc002cyw.2_Missense_Mutation_p.R297C|RBFOX1_uc002cyy.2_Missense_Mutation_p.R297C|RBFOX1_uc002cyx.2_Missense_Mutation_p.R297C|RBFOX1_uc010uyc.1_Missense_Mutation_p.R270C	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	277					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGGCCGCGGTCGCACCGTGTA	0.731000														35			5		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411377	23411377	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:23411377G>A	uc004dal.4	+	2	1750	c.1742G>A	c.(1741-1743)gGg>gAg	p.G581E		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	581					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TACACCAAGGGGTTTGTGCGG	0.393000														182			21		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559218	129559218	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:129559218C>T	uc009zyl.1	-	8	2830	c.2502G>A	c.(2500-2502)tgG>tgA	p.W834*	TMEM132D_uc001uia.2_Nonsense_Mutation_p.W372*	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	834						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCTGACTCCCCCATTCCTGCG	0.542000														102			6		0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569658	248569658	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:248569658G>A	uc010pzm.2	+	0	363	c.363G>A	c.(361-363)atG>atA	p.M121I		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAATTGACATGATGTATATTT	0.453000														223			9		0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343185	130343185	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:130343185C>T	uc010scd.2	+	7	2322	c.2322C>T	c.(2320-2322)ccC>ccT	p.P774P		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	774	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CTTCCCGGCCCATCCTGGAGC	0.677000														124			13		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36755340	36755340	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:36755340G>A	uc001cae.4	+	4	1944	c.1720G>A	c.(1720-1722)Gac>Aac	p.D574N	THRAP3_uc001caf.4_Missense_Mutation_p.D574N|THRAP3_uc001cag.1_Missense_Mutation_p.D574N	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	574					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGTCCGGATGGACTCTTTTGA	0.527000			T	USP6	aneurysmal bone cysts									108			11		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184716	72184716	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:72184716C>T	uc002fcc.4	-	4	599	c.427G>A	c.(427-429)Gag>Aag	p.E143K	PMFBP1_uc002fcd.3_Missense_Mutation_p.E143K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_5'UTR	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	143										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ATTTCCTCCTCATAGAGAATC	0.507000														117			8		0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100162603	100162603	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:100162603C>T	uc003uvf.3	+	11	1571	c.1435C>T	c.(1435-1437)Ccc>Tcc	p.P479S		NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	479					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AACCACCAACCCCTTCTTGTA	0.537000														363			26		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547543	125547543	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:125547543G>A	uc010flu.3	+	17	3181	c.2817G>A	c.(2815-2817)caG>caA	p.Q939Q	CNTNAP5_uc002tno.3_Silent_p.Q938Q	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	938	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.Q938Q(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGAATGGACAGAAAATGGACC	0.522000														85			13		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185975716	185975716	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:185975716G>A	uc003fqa.3	-	16	1974	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	DGKG_uc003fqb.3_Silent_p.F440F|DGKG_uc003fqc.3_Silent_p.F454F|DGKG_uc011brx.2_Silent_p.F420F	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	479	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GAGTATCACGGAAAAAGTTCA	0.493000														67			7		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027232	37027232	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:37027232C>T	uc004ddl.2	+	0	801	c.749C>T	c.(748-750)cCt>cTt	p.P250L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	250								p.E249Q(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGCCCAGAGCCTCCCAAGACT	0.617000														179			21		0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31652327	31652327	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:31652327C>T	uc002wym.1	+	6	717	c.717C>T	c.(715-717)tcC>tcT	p.S239S		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	239					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										CTCTCATCTCCAACCAGTACA	0.582000														64			13		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004218	75004218	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:75004218C>T	uc004ecj.2	-	0	862	c.669G>A	c.(667-669)agG>agA	p.R223R		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	223	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGAGGAGGTTCCTTGTGTTCC	0.493000														140			9		0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756679	248756679	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:248756679G>A	uc010pzn.2	-	0	391	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGAGTAACGGAGAGGATGG	0.562000														85			6		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209800877	209800877	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:209800877C>T	uc001hhg.3	-	10	1726	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	LAMB3_uc009xco.3_Missense_Mutation_p.E446K|LAMB3_uc001hhh.3_Missense_Mutation_p.E446K|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	446	Laminin EGF-like 4.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCACTCTCCTCGTCACACGGC	0.617000											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		115			8		0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880320	26880320	+	RNA	SNP	A	G	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:26880320A>G	uc001ist.3	+	1		c.555A>G								Homo sapiens long intergenic non-protein coding RNA 264 (LINC00264), non-coding RNA.																		GAAAAGGCCCAAACACATGCT	0.512000														48			3		0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29080253	29080253	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:29080253C>T	uc011dll.2	+	0	586	c.586C>T	c.(586-588)Cat>Tat	p.H196Y		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGTTGATACCCATGTCAATGA	0.463000														125			15		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77400934	77400934	+	Silent	SNP	G	A	A	rs149732972		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:77400934G>A	uc004ajl.1	-	20	3013	c.2775C>T	c.(2773-2775)ttC>ttT	p.F925F	TRPM6_uc004ajk.1_Silent_p.F920F|TRPM6_uc022bib.1_Silent_p.F920F|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	925					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATCGAAGGACGAAGCCAGCTG	0.478000														175			27		0	0	1	0	0
ATPAF2	91647	broad.mit.edu	37	17	17924547	17924547	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:17924547C>T	uc002gse.1	-	6	775	c.622G>A	c.(622-624)Gag>Aag	p.E208K	ATPAF2_uc002gsd.1_Non-coding_Transcript	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 2 (ATPAF2), nuclear gene encoding mitochondrial protein, mRNA.	208					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GCTACAAACTCAATCCCTGCA	0.587000														24			4		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940658	113940658	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:113940658G>A	uc002tjc.3	+	1	808	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.E208K|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	209					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCTGAGAATGAAGACTCAGG	0.642000														75			7		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121554972	121554972	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:121554972C>T	uc010flp.3	+	0	106	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S	GLI2_uc010yyu.1_Missense_Mutation_p.P26S|GLI2_uc002tmp.1_Missense_Mutation_p.P26S|GLI2_uc010fln.1_Non-coding_Transcript|GLI2_uc002tmq.1_5'UTR|GLI2_uc002tmr.1_5'UTR|GLI2_uc002tmt.4_5'UTR|GLI2_uc002tmu.4_5'UTR|GLI2_uc002tmv.1_Missense_Mutation_p.P26S|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Missense_Mutation_p.P26S	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	26					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGCTGGCTTCCCCGACCCGGG	0.617000														233			25		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118365449	118365449	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:118365449C>T	uc001pta.3	+	17	5344	c.5321C>T	c.(5320-5322)tCc>tTc	p.S1774F	MLL_uc001ptb.3_Missense_Mutation_p.S1777F	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1774					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GTCAAAAAGTCCAGGTTTTGG	0.328000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									33			4		0	0	1	0	0
CDK16	5127	broad.mit.edu	37	X	47082953	47082953	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:47082953C>T	uc011mli.2	+	1	539	c.15C>T	c.(13-15)atC>atT	p.I5I	CDK16_uc011mlj.2_5'UTR|CDK16_uc004dho.3_5'UTR|CDK16_uc011mlk.2_5'UTR|CDK16_uc011mll.2_Silent_p.I73I	NM_033018	NP_006192	Q00536	CDK16_HUMAN	Homo sapiens cyclin-dependent kinase 16 (CDK16), transcript variant 2, mRNA.	0							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						TTGCTCAGATCGCCATGGATC	0.532000														40			4		0	0	1	0	0
C1orf63	57035	broad.mit.edu	37	1	25572954	25572954	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:25572954G>A	uc001bjw.3	-	1	753	c.501C>T	c.(499-501)ccC>ccT	p.P167P	C1orf63_uc021oji.1_Non-coding_Transcript|C1orf63_uc021ojj.1_Non-coding_Transcript	NM_020317	NP_064713	Q9BUV0	CA063_HUMAN	Homo sapiens chromosome 1 open reading frame 63 (C1orf63), mRNA.	167	Arg-rich.							p.P167L(1)		breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTAAGCGAAAGGGGGTTCTGC	0.547000														194			14		0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23532226	23532226	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:23532226G>A	uc001wit.4	-	13	3297	c.2969C>T	c.(2968-2970)tCc>tTc	p.S990F	ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Missense_Mutation_p.S232F|ACIN1_uc001wiq.4_Missense_Mutation_p.S232F|ACIN1_uc001wir.4_Missense_Mutation_p.S263F|ACIN1_uc001wis.4_Missense_Mutation_p.S671F|ACIN1_uc010akg.3_Missense_Mutation_p.S977F|ACIN1_uc010tnj.2_Missense_Mutation_p.S950F	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	990					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AATGGTAATGGAAACTCCGGA	0.473000														207			9		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126402785	126402785	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:126402785C>T	uc003ifj.4	+	14	12708	c.12708C>T	c.(12706-12708)gcC>gcT	p.A4236A	FAT4_uc011cgp.2_Silent_p.A2477A|FAT4_uc003ifi.1_Silent_p.A1714A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4236	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACGAGGTGCCATGTTGGAGC	0.438000														113			6		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304406	10304406	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:10304406C>T	uc002gmm.2	-	24	3306	c.3211G>A	c.(3211-3213)Gat>Aat	p.D1071N	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1071					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTTCCATATCCATTGTGGAT	0.388000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					111			6		0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154938691	154938691	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:154938691A>G	uc001ffv.3	-	8	1420	c.1199T>C	c.(1198-1200)gTt>gCt	p.V400A	SHC1_uc001ffw.3_Missense_Mutation_p.V400A|SHC1_uc001ffx.3_Missense_Mutation_p.V290A|SHC1_uc001ffy.3_Missense_Mutation_p.V290A|SHC1_uc001ffz.1_Missense_Mutation_p.V171A	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	400	CH1.				Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.L400L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATCTCCCCCAACAGGCTGTCC	0.582000														38			4		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191731	152191731	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:152191731C>T	uc001ezt.1	-	2	2450	c.2374G>A	c.(2374-2376)Ggc>Agc	p.G792S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	792					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGTTGGCCGTGGCTGGAG	0.602000														129			11		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121203990	121203990	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:121203990G>A	uc003eee.4	-	16	5800	c.5671C>T	c.(5671-5673)Ccc>Tcc	p.P1891S	POLQ_uc003eed.3_Missense_Mutation_p.P1063S	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1891					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCTTTAATGGGAAATCCATCA	0.373000								DNA polymerases (catalytic subunits)						88			13		0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104156785	104156785	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:104156785C>T	uc001kvb.3	+	5	633	c.368C>T	c.(367-369)tCt>tTt	p.S123F	NFKB2_uc001kva.3_Missense_Mutation_p.S123F|NFKB2_uc010qqk.1_Missense_Mutation_p.S123F|NFKB2_uc001kvd.3_Missense_Mutation_p.S123F|NFKB2_uc009xxc.3_Missense_Mutation_p.S123F	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	123	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TGCGCCGTTTCTGTGGGGCCC	0.632000			T	IGH@	B-NHL									45			10		0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767038	88767038	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:88767038G>A	uc021xpx.1	+	3	1123	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	MEPE_uc021xpu.1_Missense_Mutation_p.D340N|MEPE_uc021xpv.1_Missense_Mutation_p.D227N|MEPE_uc021xpw.1_Missense_Mutation_p.D227N|MEPE_uc010ikn.3_Missense_Mutation_p.D227N|MEPE_uc003hqy.3_Missense_Mutation_p.D340N|MEPE_uc021xpy.1_Missense_Mutation_p.D227N	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	340					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.D340N(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GGGCAGCAACGATATCATGGG	0.473000														82			6		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459973	107459973	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:107459973C>T	uc002tdq.3	-	1	580	c.461G>A	c.(460-462)gGg>gAg	p.G154E	ST6GAL2_uc002tdr.3_Missense_Mutation_p.G154E|ST6GAL2_uc002tds.3_Missense_Mutation_p.G154E	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	154			G -> R (in dbSNP:rs3796110).		growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.P153P(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCCTGGCTCCCCGGGGGAAGG	0.622000														268			17		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42337219	42337219	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:42337219G>A	uc002igf.4	-	6	716	c.567C>T	c.(565-567)ctC>ctT	p.L189L	SLC4A1_uc021tyc.1_Silent_p.L189L	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	189					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGTGTTGGGGGAGCAGAGGCT	0.617000														110			29		0	0	1	0	0
PRCP	5547	broad.mit.edu	37	11	82549517	82549517	+	Nonsense_Mutation	SNP	G	A	A	rs150477159	byFrequency	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:82549517G>A	uc001ozs.3	-	7	1299	c.1186C>T	c.(1186-1188)Caa>Taa	p.Q396*	PRCP_uc001ozr.3_Nonsense_Mutation_p.Q417*	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	396					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CCCCACTGTTGAAAACAGTCA	0.433000														55			8		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615043	55615043	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:55615043C>T	uc010spf.2	+	0	235	c.235C>T	c.(235-237)Cca>Tca	p.P79S		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GGTTATGGTGCCAAAAATGCT	0.413000														189			14		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53756425	53756425	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:53756425C>T	uc003dgv.4	+	11	1753	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	CACNA1D_uc003dgu.4_Silent_p.I550I|CACNA1D_uc003dgy.4_Silent_p.I530I|CACNA1D_uc003dgw.4_Silent_p.I197I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	530					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGCTGGTTATCGTCCTGGTGT	0.488000														93			7		0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809989	5809989	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:5809989G>A	uc010qzo.2	-	0	58	c.58C>T	c.(58-60)Cct>Tct	p.P20S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TCCAAACCAGGGATGCCATTT	0.433000														65			4		0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8222824	8222824	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:8222824C>T	uc002glc.3	+	14	2432	c.2277C>T	c.(2275-2277)tcC>tcT	p.S759S	ARHGEF15_uc002gld.3_Silent_p.S759S|ARHGEF15_uc010vuw.2_Silent_p.S648S	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	759					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CAGACTGTTCCCAGGAACTGT	0.537000														270			17		0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86389376	86389376	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:86389376G>A	uc003ydk.2	+	5	715	c.535G>A	c.(535-537)Gat>Aat	p.D179N	CA2_uc022axe.1_5'Flank	NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	179				DP -> AA (in Ref. 6; AAH11949).	one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CACTAACTTCGATCCTCGTGG	0.507000														238			21		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61524251	61524251	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:61524251G>A	uc002ydr.2	-	12	3477	c.3165C>T	c.(3163-3165)acC>acT	p.T1055T	DIDO1_uc002yds.2_Silent_p.T1055T|DIDO1_uc002ydt.2_Silent_p.T1055T|DIDO1_uc002ydu.2_Silent_p.T1055T	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1055					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTTCCAAATGGTGCTGAGTC	0.423000														79			14		0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27886751	27886752	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:27886751_27886752GG>AA	uc002rlk.4	+	0	414_415	c.132_133GG>AA	c.(130-135)aaggag>aaAAag	p.E45K	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	45						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GGGTTTCGAAGGAGCGGATTTC	0.574000														195			17		0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965496	22965496	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:22965496C>T	uc001bfy.3	+	2	419	c.334C>T	c.(334-336)Cag>Tag	p.Q112*		NM_015991	NP_057075	P02745	C1QA_HUMAN	Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	112	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CATCAAGGACCAGCCGAGGCC	0.652000														34			6		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35874603	35874603	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:35874603C>T	uc003jjs.3	+	5	848	c.759C>T	c.(757-759)gtC>gtT	p.V253V	IL7R_uc011coo.2_Intron|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	253					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.V253_A254insVLC(2)|p.V253V(2)|p.S252_A254>WN(2)|p.F250_V253>PLGE(2)|p.V253G(1)|p.V253_A254insGEA(1)|p.V253A(1)|p.V253>GPSL(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TTTTCTCTGTCGCTCTGTTGG	0.438000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							112			9		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64677347	64677347	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr11:64677347G>A	uc001obx.3	-	13	2028	c.1913C>T	c.(1912-1914)gCa>gTa	p.A638V		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	638							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGCCCGGGGTGCAGAGAGCCG	0.711000														96			11		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668215	53668215	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:53668215C>T	uc010eqm.1	-	3	1628	c.1528G>A	c.(1528-1530)Gga>Aga	p.G510R		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GGTTTTTCTCCAGTATGAACT	0.393000														150			12		0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139732	142139732	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:142139732G>A	uc003vyt.3	-	0	84	c.39C>T	c.(37-39)ttC>ttT	p.F13F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGTCCCTAGGAAACCCAGGA	0.532000														119			12		0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009500	46009500	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:46009500C>T	uc011bal.1	-	6	1438	c.1326G>A	c.(1324-1326)cgG>cgA	p.R442R	FYCO1_uc003cpb.4_Silent_p.R442R	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	442					transport	integral to membrane	metal ion binding|protein binding	p.R442L(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCAGGCTGGCCCGGGCATCCT	0.612000														391			29		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178417622	178417622	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:178417622G>A	uc003mjr.3	-	3	1162	c.983C>T	c.(982-984)aCc>aTc	p.T328I	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	328					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)		GGGCAGGATGGTGATGGCCCC	0.642000														28			5		0	0	1	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267817	103267817	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:103267817C>T	uc004elr.3	-	0	440	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.	139					nucleosome assembly	nuclear membrane|nucleosome	DNA binding	p.R139Q(2)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						CACAGCCATCCGGGTCTCCCA	0.642000														70			6		0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35107964	35107964	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr9:35107964C>T	uc003zwl.3	-	2	633	c.308G>A	c.(307-309)gGc>gAc	p.G103D	FAM214B_uc003zwm.3_Missense_Mutation_p.G103D|FAM214B_uc003zwn.3_Intron|FAM214B_uc003zwo.3_Missense_Mutation_p.G103D|FAM214B_uc003zwp.1_Missense_Mutation_p.G103D|FAM214B_uc010mkk.1_Intron|FAM214B_uc022bgj.1_Missense_Mutation_p.G103D	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA.	103						nucleus											TCCCTCTGGGCCTAAGAGCCC	0.627000														93			13		0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155233163	155233163	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:155233163C>T	uc004fnv.1	+	2	371	c.192C>T	c.(190-192)atC>atT	p.I64I	IL9R_uc010nvn.2_Silent_p.I43I|IL9R_uc004fnu.1_Silent_p.I111I	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	64					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCTCAGGATCGATTGCCACT	0.597000														115			15		0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52486252	52486252	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:52486252G>A	uc003deb.3	-	2	98	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_003280	NP_003271	P63316	TNNC1_HUMAN	Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	24	EF-hand 1.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	CGAAGATGTCGAAGGCTGCCT	0.637000														141			11		0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73590734	73590734	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:73590734C>T	uc002avm.4	+	26	4139	c.3947C>T	c.(3946-3948)tCg>tTg	p.S1316L	NEO1_uc010ukx.2_Missense_Mutation_p.S1305L|NEO1_uc010uky.2_Missense_Mutation_p.S1263L|NEO1_uc002avn.4_Missense_Mutation_p.S1309L|NEO1_uc010ukz.2_Missense_Mutation_p.S729L	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	1316					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCAGCCTCTTCGTCTCAAACA	0.493000														84			5		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248058984	248058984	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:248058984G>A	uc010pzb.2	+	0	96	c.96G>A	c.(94-96)ctG>ctA	p.L32L	OR2W3_uc001idp.1_Silent_p.L32L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGTCATCCTGATCGCGTACC	0.572000														160			27		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215844390	215844390	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:215844390G>A	uc001hku.1	-	63	14444	c.14057C>T	c.(14056-14058)cCa>cTa	p.P4686L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4686	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATTAGGACTGGATTGGATTT	0.363000										HNSCC(13;0.011)				176			12		0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57345813	57345813	+	Nonstop_Mutation	SNP	T	C	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:57345813T>C	uc001smi.4	-	3	1126	c.954A>G	c.(952-954)tgA>tgG	p.*318W	RDH16_uc009zpa.3_Nonstop_Mutation_p.*173W	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	0					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AACCTTAGCTTCATAGAGCCT	0.552000														47			7		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8862293	8862293	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:8862293T>C	uc002wnb.3	+	31	3451	c.3448T>C	c.(3448-3450)Tac>Cac	p.Y1150H	PLCB1_uc002wna.3_3'UTR	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1150					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGAGCAAGAATACCAAGACAA	0.458000														258			9		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96824665	96824665	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr10:96824665G>A	uc001kkb.3	-	3	629	c.534C>T	c.(532-534)atC>atT	p.I178I	CYP2C8_uc010qoa.2_Silent_p.I108I|CYP2C8_uc010qoc.2_Silent_p.I76I|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Silent_p.I92I|CYP2C8_uc021pwl.1_Silent_p.I108I|CYP2C8_uc010qod.1_Silent_p.I92I	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	178					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			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)	CAACGGAGCAGATCACATTGC	0.333000														111			11		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279951	152279951	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:152279951C>T	uc001ezu.1	-	2	7447	c.7411G>A	c.(7411-7413)Gga>Aga	p.G2471R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2471	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTTCCTCCACTGCTTGAC	0.567000									Ichthyosis					791			113		0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50329948	50329948	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:50329948G>A	uc003czb.3	-	2	310	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	IFRD2_uc011bdp.2_5'UTR	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	0							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCAGAGGCCTGAGCGCGCAGG	0.657000														60			7		0	0	1	0	0
ZNF77	58492	broad.mit.edu	37	19	2934251	2934251	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:2934251C>T	uc002lws.4	-	3	1005	c.874G>A	c.(874-876)Gga>Aga	p.G292R		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTTTCTCTCCAGTGTGTGTT	0.463000														112			5		0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142258998	142258998	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:142258998C>T	uc011dbj.2	+	3	407	c.372C>T	c.(370-372)atC>atT	p.I124I	ARHGAP26_uc003lmt.3_Silent_p.I124I|ARHGAP26_uc003lmw.3_Silent_p.I124I	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	124					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGAACAGATCGGGGCTGCCA	0.438000														123			16		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41442124	41442124	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:41442124G>A	uc010ehg.1	+	1	302	c.294G>A	c.(292-294)cgG>cgA	p.R98R	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Silent_p.R98R|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TCTCTGGCCGGGGAAAAATCG	0.607000														70			4		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1629840	1629840	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:1629840C>T	uc002wfm.1	-	1	353	c.288G>A	c.(286-288)aaG>aaA	p.K96K	SIRPG_uc002wfn.1_Silent_p.K96K|SIRPG_uc002wfo.1_Silent_p.K96K	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	96	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TGTTGTTTCTCTTTGTGAGGT	0.493000														182			33		0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93244985	93244985	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr12:93244985G>A	uc001tck.3	-	8	965	c.700C>T	c.(700-702)Caa>Taa	p.Q234*		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	234					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ATTAGTGTTTGAACTTGGACC	0.363000														45			5		0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75066821	75066821	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:75066821G>A	uc003udk.4	-	6	1337	c.452C>T	c.(451-453)tCc>tTc	p.S151F	POM121C_uc010lde.1_Missense_Mutation_p.S393F	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	393	Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GGAGCTGTAGGAACTGGTAAT	0.512000														335			48		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811827	140811827	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:140811827G>A	uc021xsg.1	-	1	1515	c.763C>T	c.(763-765)Cct>Tct	p.P255S	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	255					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CCGTTGACAGGAAGTTTAATC	0.473000														144			14		0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701497	143701497	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:143701497G>A	uc003wdt.1	+	0	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CAACCATAATGAGCCATGGGC	0.557000														130			11		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158389833	158389833	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:158389833G>A	uc010pii.2	-	0	824	c.824C>T	c.(823-825)tCa>tTa	p.S275L		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GTAGGATACTGATATTAGAGC	0.383000														90			21		0	0	1	0	0
POGLUT1	56983	broad.mit.edu	37	3	119190166	119190166	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:119190166G>A	uc003ecm.3	+	2	271	c.187G>A	c.(187-189)Gag>Aag	p.E63K	POGLUT1_uc011biz.1_Non-coding_Transcript|POGLUT1_uc011bja.2_5'UTR	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	Homo sapiens protein O-glucosyltransferase 1 (POGLUT1), transcript variant 1, mRNA.	63						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TGTCATAGAAGAGGATCTAAC	0.478000														316			16		0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76631555	76631555	+	RNA	SNP	C	T	T	rs61737188	by1000genomes	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:76631555C>T	uc011kgn.1	+	3		c.696C>T			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.									p.P21S(1)									GGCAATCGGGCCCCTGGCTGT	0.607000														36			7		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123517535	123517535	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:123517535C>T	uc010nqy.3	-	29	7310	c.7246G>A	c.(7246-7248)Gaa>Aaa	p.E2416K	ODZ1_uc011muj.2_Missense_Mutation_p.E2415K|ODZ1_uc004euj.3_Missense_Mutation_p.E2409K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2409					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TAGTTATTTTCAAAGGAGTAG	0.363000														129			9		0	0	1	0	0
MRPL53	116540	broad.mit.edu	37	2	74699706	74699706	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:74699706C>T	uc002sln.3	-	0	237	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	CCDC142_uc002slo.3_Non-coding_Transcript	NM_053050	NP_444278	Q96EL3	RM53_HUMAN	Homo sapiens mitochondrial ribosomal protein L53 (MRPL53), nuclear gene encoding mitochondrial protein, mRNA.	28						mitochondrion|ribosome				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						CTCGTCGATTCCACGTTTTTC	0.592000														123			6		0	0	1	0	0
HTRA2	27429	broad.mit.edu	37	2	74757235	74757235	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:74757235C>T	uc002smi.1	+	0	704	c.102C>T	c.(100-102)gaC>gaT	p.D34D	AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_5'Flank|AUP1_uc002smg.3_5'Flank|AUP1_uc002smh.3_5'Flank|AUP1_uc010yrx.2_5'Flank|AUP1_uc021vjm.1_5'Flank|AUP1_uc010yry.2_5'Flank|HTRA2_uc002smj.1_Silent_p.D34D|HTRA2_uc002smk.1_Silent_p.D34D|HTRA2_uc002sml.1_Silent_p.D34D|HTRA2_uc010ffl.3_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	Homo sapiens HtrA serine peptidase 2 (HTRA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	34					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TGACCCCTGACCTCCGGGCCC	0.692000														40			4		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21136395	21136395	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:21136395G>A	uc002kum.4	-	7	1412	c.1138C>T	c.(1138-1140)Ctc>Ttc	p.L380F	NPC1_uc010xaz.2_Missense_Mutation_p.L181F|NPC1_uc010xba.1_Missense_Mutation_p.L225F	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	380			L -> F (in NPC1).		autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCTGACCAGAGGTCAACTGGA	0.572000														59			8		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19653413	19653413	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr21:19653413C>T	uc002ykw.3	-	21	2643	c.2612G>A	c.(2611-2613)cGa>cAa	p.R871Q		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	871	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTCCTTTCTTCGCCTATTGTA	0.363000														159			12		0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96781322	96781322	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:96781322G>A	uc021vlh.1	-	0	567	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	189					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGTAGACAAGGATCATGATGA	0.642000														62			4		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030587	79030587	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:79030587T>C	uc003kgc.3	+	1	6071	c.5999T>C	c.(5998-6000)gTa>gCa	p.V2000A		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2000						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCTGGAAATGTAGAGAGAAAC	0.408000														71			8		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583542	7583542	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:7583542G>A	uc003mxp.1	+	23	6326	c.6047G>A	c.(6046-6048)gGa>gAa	p.G2016E	DSP_uc003mxq.1_Missense_Mutation_p.G1417E|DSP_uc021yle.1_Missense_Mutation_p.G1573E	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2016	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CGGGGTGCAGGATCTATCGCT	0.453000														104			11		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61325795	61325795	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:61325795C>T	uc002lji.3	-	4	565	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	SERPINB3_uc002ljg.3_Missense_Mutation_p.E141K|SERPINB3_uc010dqa.3_Missense_Mutation_p.E141K|SERPINB3_uc010dqb.3_3'UTR	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	141					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CGACTTTCTTCTGGAGCATTT	0.393000														64			8		0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31631125	31631126	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:31631125_31631126GG>AA	uc010zuc.2	+	13	1281_1282	c.1281_1282GG>AA	c.(1279-1284)ccggac>ccAAac	p.D428N	BPIFB6_uc010zud.2_Missense_Mutation_p.D367N	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	428						extracellular region	lipid binding										TCCCACTCCCGGACTTTCTGGC	0.525000														103			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256422	140256422	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140256422C>T	uc003lic.2	+	0	1492	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	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_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.F455F	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	469	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T454S(1)		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)			CGCCTGCGTTCGCGCAGCCCG	0.662000														172			28		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44932727	44932727	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:44932727G>A	uc002oze.1	-	5	2663	c.2229C>T	c.(2227-2229)caC>caT	p.H743H	ZNF229_uc010ejk.1_Silent_p.H397H|ZNF229_uc010ejl.1_Silent_p.H737H	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	743					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TCCCACACACGTGGCATCTGT	0.498000														84			10		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030121	79030121	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:79030121G>A	uc003kgc.3	+	1	5605	c.5533G>A	c.(5533-5535)Gat>Aat	p.D1845N		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1845						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTCTTCTGAAGATAAACAAGA	0.368000														61			9		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241700646	241700646	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:241700646C>T	uc010fzk.3	-	24	2512	c.2265_splice	c.e24+1	p.K755_splice	KIF1A_uc002vzy.3_Splice_Site_p.K746_splice|KIF1A_uc002vzz.2_Splice_Site_p.K755_splice	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	746					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGCAGCCCACCTTCTTTTTCA	0.577000														212			9		0	0	1	0	0
TMEM155	132332	broad.mit.edu	37	4	122683021	122683021	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:122683021G>A	uc003idx.1	-	3	577	c.18C>T	c.(16-18)atC>atT	p.I6I		NM_152399	NP_689612	Q4W5P6	TM155_HUMAN	Homo sapiens transmembrane protein 155 (TMEM155), mRNA.	6						extracellular region				breast(1)|lung(5)	6						AGATTGTCCTGATAAGATCTG	0.308000														63			7		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90368365	90368365	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:90368365T>G	uc003kju.3	+	85	18350	c.18254T>G	c.(18253-18255)gTg>gGg	p.V6085G	GPR98_uc003kjt.3_Missense_Mutation_p.V3791G|GPR98_uc003kjw.3_Missense_Mutation_p.V1746G|GPR98_uc003kjx.3_Missense_Mutation_p.V113G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	6085					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCTACCAGGTGAAGCCACAG	0.448000														198			39		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128362849	128362849	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:128362849C>T	uc003kuy.3	+	7	1675	c.1279C>T	c.(1279-1281)Cga>Tga	p.R427*	SLC27A6_uc003kuz.3_Nonsense_Mutation_p.R427*	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	427					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.R427P(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TCTCATTTCTCGAGTGAATGC	0.368000														82			16		0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148882032	148882032	+	RNA	SNP	A	G	G			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:148882032A>G	uc009wkv.1	+	2		c.253A>G								Homo sapiens cDNA, FLJ17483.																		TAGCAGTGACAAATTCACTTT	0.348000														68			5		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13809241	13809241	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:13809241G>A	uc003jfd.2	-	45	7706	c.7664C>T	c.(7663-7665)aCc>aTc	p.T2555I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2555	AAA 3 (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)					CTCTGGGGTGGTATCAGACGG	0.433000									Kartagener syndrome					149			15		0	0	1	0	0
RSPO3	84870	broad.mit.edu	37	6	127517039	127517039	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:127517039A>T	uc003qas.1	+	4	996	c.706A>T	c.(706-708)Aaa>Taa	p.K236*	RSPO3_uc003qar.3_Nonsense_Mutation_p.K236*	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	Homo sapiens R-spondin 3 (RSPO3), mRNA.	236						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		ACCTGACAGCAAAAGTCTGGA	0.368000														31			3		0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655059	31655060	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr21:31655059_31655060GG>AA	uc002ynv.3	-	0	217_218	c.191_192CC>TT	c.(190-192)tcc>tTT	p.S64F		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	64						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						CTTCACCGTAGGATTCTTGGCA	0.520000														125			12		0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37014168	37014168	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr13:37014168G>A	uc001uvr.4	+	5	1296	c.946G>A	c.(946-948)Gat>Aat	p.D316N	CCNA1_uc010teo.2_Missense_Mutation_p.D272N|CCNA1_uc010abq.3_Missense_Mutation_p.D272N|CCNA1_uc010abp.3_Missense_Mutation_p.D272N|CCNA1_uc001uvs.4_Missense_Mutation_p.D315N|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	316					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	p.T315T(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CTATATCACCGATGATACATA	0.383000														96			12		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146997522	146997522	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:146997522G>A	uc010jgo.1	-	17	2446	c.2298C>T	c.(2296-2298)gaC>gaT	p.D766D	JAKMIP2_uc003loq.1_Silent_p.D766D|JAKMIP2_uc011dbx.1_Silent_p.D724D|JAKMIP2_uc003lor.1_Silent_p.D745D|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	766						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATCTGACAGTCATACTCTC	0.468000														65			8		0	0	1	0	0
MT1DP	326343	broad.mit.edu	37	16	56678689	56678689	+	RNA	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:56678689G>A	uc010cci.3	+	2		c.200G>A			MT1DP_uc010vhf.2_Non-coding_Transcript					Homo sapiens metallothionein 1D, pseudogene (MT1DP), transcript variant 2, non-coding RNA.																		AAGGGGCATTGGAGAAGTGCA	0.527000														80			9		0	0	1	0	0
IL28RA	163702	broad.mit.edu	37	1	24495953	24495953	+	Silent	SNP	G	A	A	rs141902174		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:24495953G>A	uc001bis.3	-	2	348	c.321C>T	c.(319-321)tcC>tcT	p.S107S	IL28RA_uc001bir.3_Silent_p.S107S|IL28RA_uc001bit.3_Silent_p.S107S|IL28RA_uc001biu.3_Silent_p.S23S|IL28RA_uc001biv.3_Silent_p.S107S	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	107	Fibronectin type-III.				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		AGGGGGACTTGGAGCTGGGAG	0.547000														88			8		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281894	152281894	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:152281894C>T	uc001ezu.1	-	2	5504	c.5468G>A	c.(5467-5469)gGa>gAa	p.G1823E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1823	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1823V(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCTGCCTTCCTCCTCTGCT	0.582000									Ichthyosis					869			29		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142517247	142517247	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:142517247C>T	uc003ywi.2	-	0	84	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	1							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ACTGCCTGTCCATGGTTGGGG	0.642000														65			12		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43044656	43044656	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:43044656G>A	uc001zqo.2	-	13	3227	c.2788C>T	c.(2788-2790)Cgg>Tgg	p.R930W	TTBK2_uc010bcy.2_Missense_Mutation_p.R861W	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	930					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		ATATCCTTCCGGGTTGGGGCA	0.433000														122			6		0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88116637	88116637	+	Missense_Mutation	SNP	T	C	C	rs140096013	byFrequency	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:88116637T>C	uc011cdb.1	-	1	440	c.55A>G	c.(55-57)Aaa>Gaa	p.K19E	KLHL8_uc003hql.1_Missense_Mutation_p.K19E|KLHL8_uc003hqm.1_Missense_Mutation_p.K19E|KLHL8_uc003hqn.1_Missense_Mutation_p.K19E|KLHL8_uc010ikj.1_5'UTR	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA.	19										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TGTTGCCTTTTCCCCTTTGTA	0.368000														109			5		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41000926	41000926	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:41000926C>T	uc003jmj.4	-	37	4694	c.4204G>A	c.(4204-4206)Gat>Aat	p.D1402N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.D957N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1402							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AATCTCACATCATCCTGCTCC	0.478000														11			4		0	0	1	0	0
ODF2L	57489	broad.mit.edu	37	1	86822195	86822196	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:86822195_86822196CC>GT	uc001dll.2	-	13	1811_1812	c.1449_1450GG>AC	c.(1447-1452)caggag>caACag	p.E484Q	ODF2L_uc001dlp.3_Intron|ODF2L_uc010osg.2_Intron|ODF2L_uc001dlm.2_Missense_Mutation_p.E455Q	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	484						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TGCAGACTCTCCTGACACTCGT	0.559000														102			13		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7348285	7348285	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:7348285G>A	uc003bqm.2	+	3	1253	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	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_Missense_Mutation_p.E327K|GRM7_uc003bql.2_Missense_Mutation_p.E327K|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	327					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			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)	GCACCAGCATGAAGATATCGC	0.522000														113			12		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107849982	107849982	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:107849982G>A	uc022ccg.1	+	28	2457	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	COL4A5_uc004enz.1_Missense_Mutation_p.G752E|COL4A5_uc004eob.1_Missense_Mutation_p.G360E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	752	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGTGAACCAGGATTTGCATTA	0.478000									Alport syndrome with Diffuse Leiomyomatosis					165			10		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151878339	151878339	+	Silent	SNP	T	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:151878339T>A	uc003wla.3	-	35	6825	c.6606A>T	c.(6604-6606)ccA>ccT	p.P2202P	MLL3_uc003wkz.3_Silent_p.P1263P	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2202	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.D2201H(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GATGAGCATATGGATCAGAAT	0.468000			N		medulloblastoma									104			8		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947660	237947660	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:237947660G>A	uc001hyl.1	+	89	12768	c.12648G>A	c.(12646-12648)gcG>gcA	p.A4216A	RYR2_uc010pya.2_Silent_p.A631A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4216					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A4214A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAGGTCAGCGAATAAGGAAG	0.542000														110			5		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51258589	51258589	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:51258589C>T	uc003tps.3	-	3	828	c.643G>A	c.(643-645)Gag>Aag	p.E215K	COBL_uc003tpr.4_Missense_Mutation_p.E215K|COBL_uc011kcl.2_Missense_Mutation_p.E215K|COBL_uc010kzc.3_Missense_Mutation_p.E215K|COBL_uc003tpt.3_Missense_Mutation_p.E215K|COBL_uc003tpp.4_5'UTR|COBL_uc003tpq.4_Missense_Mutation_p.E131K	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	215								p.N214N(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ATCCCGAGCTCGTTCAGGGAC	0.592000														48			6		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33680049	33680049	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:33680049C>T	uc002hjg.4	-	4	2279	c.2032G>A	c.(2032-2034)Ggg>Agg	p.G678R	SLFN11_uc010ctr.3_Missense_Mutation_p.G678R|SLFN11_uc010ctp.3_Missense_Mutation_p.G678R|SLFN11_uc010ctq.3_Missense_Mutation_p.G678R|SLFN11_uc002hjh.4_Missense_Mutation_p.G678R	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	678						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TACCAGTCCCCATCTTCAGTA	0.468000														261			15		0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43938288	43938288	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:43938288C>T	uc002xns.3	+	2	285	c.213C>T	c.(211-213)atC>atT	p.I71I	MATN4_uc002xnp.2_5'Flank|MATN4_uc002xnn.2_5'Flank|MATN4_uc002xno.2_5'Flank|MATN4_uc002xnr.1_5'Flank|RBPJL_uc002xnt.3_Silent_p.I71I	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	71					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CTGTGCGGATCCTGCATGCCA	0.607000														61			6		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393444	154393444	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:154393444C>T	uc010jih.1	+	0	185	c.25C>T	c.(25-27)Cct>Tct	p.P9S		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	9	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAAGGGAATTCCTGTAAGAGT	0.587000														128			13		0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108128381	108128381	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:108128381G>A	uc003vff.1	-	9	2107	c.1700C>T	c.(1699-1701)aCc>aTc	p.T567I	PNPLA8_uc003vfi.1_Missense_Mutation_p.T467I|PNPLA8_uc003vfh.1_Missense_Mutation_p.T567I|PNPLA8_uc003vfj.1_Missense_Mutation_p.T567I|PNPLA8_uc003vfk.1_Missense_Mutation_p.T467I	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA.	567	Patatin.				fatty acid metabolic process|lipid catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ATTTACTATGGTACTTACAGC	0.328000														59			5		0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26949194	26949194	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:26949194G>A	uc001wqa.3	-	3	856	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	NOVA1_uc001wpy.3_Missense_Mutation_p.R146C|NOVA1_uc001wpz.3_Missense_Mutation_p.R146C|NOVA1_uc001wqb.3_Missense_Mutation_p.R146C	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	149					RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGTTTGATGCGATCTGGATTA	0.388000														130			9		0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	251119	251119	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:251119C>T	uc011clv.1	+	11	1679	c.1564C>T	c.(1564-1566)Cat>Tat	p.H522Y	SDHA_uc003jao.4_Missense_Mutation_p.H522Y|SDHA_uc011clw.2_Missense_Mutation_p.H474Y|SDHA_uc003jaq.4_Missense_Mutation_p.H297Y|SDHA_uc021xvu.1_Intron	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	522					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AATGCAAAATCATGCTGCCGT	0.438000									Familial Paragangliomas					198			9		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000														2			5		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130417102	130417102	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:130417102G>A	uc004ewe.4	-	5	1087	c.804C>T	c.(802-804)tcC>tcT	p.S268S	IGSF1_uc004ewd.3_Silent_p.S268S|IGSF1_uc022cdv.1_Silent_p.S259S|IGSF1_uc004ewf.2_Silent_p.S248S	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	268	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGTGGTAAAAGGACTTCTCCA	0.428000														128			9		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100231953	100231953	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:100231953C>T	uc003hus.4	-	7	1156	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	ADH1B_uc003hut.4_Missense_Mutation_p.E318K|ADH1B_uc011ceh.2_Missense_Mutation_p.E203K|ADH1B_uc011cei.1_Missense_Mutation_p.E318K	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	358					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAAATCCTTCATTTATTTTT	0.348000														72			6		0	0	1	0	0
FAM58BP	339521	broad.mit.edu	37	1	200183367	200183367	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:200183367A>T	uc009wzi.1	+	0	712	c.676A>T	c.(676-678)Agt>Tgt	p.S226C		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	226					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						GCAGGCGTTTAGTGACGACCT	0.547000														104			6		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325530	150325530	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:150325530C>T	uc022apv.1	-	2	846	c.366G>A	c.(364-366)ggG>ggA	p.G122G	GIMAP6_uc003whn.3_Silent_p.G52G|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	52							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGCACTCTTCCCACTCCCTG	0.527000														492			85		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31902061	31902061	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:31902061C>T	uc003nyf.3	+	5	1098	c.834C>T	c.(832-834)tcC>tcT	p.S278S	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Silent_p.S278S|CFB_uc010jtk.3_Silent_p.S146S|CFB_uc011doq.2_Silent_p.S249S|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	294	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGAGCGCCTCCCTCATGGTGG	0.552000														275			30		0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44715667	44715667	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:44715667C>T	uc003tln.3	+	8	1284	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	OGDH_uc003tlm.3_Silent_p.S375S|OGDH_uc011kbx.2_Silent_p.S371S|OGDH_uc011kby.2_Silent_p.S225S|OGDH_uc003tlp.3_Silent_p.S386S|OGDH_uc011kbz.2_Silent_p.S170S|OGDH_uc003tlo.1_Silent_p.S208S	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	375					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CCAACCCTTCCCACCTTGAGG	0.562000														164			20		0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146266598	146266598	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr6:146266598G>A	uc003qlf.3	-	7	1896	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	SHPRH_uc003qle.3_Silent_p.I499I|SHPRH_uc003qlg.1_Silent_p.I55I|SHPRH_uc003qlj.1_Silent_p.I388I	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	499	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CATGGCCTTTGATCTGTTTCA	0.353000														44			6		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2573013	2573013	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:2573013G>A	uc002wgf.1	+	7	907	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	TMC2_uc002wgg.1_Missense_Mutation_p.E282K|TMC2_uc010zpw.1_Missense_Mutation_p.E130K|TMC2_uc010zpx.1_Missense_Mutation_p.E129K	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	298						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCGGGCTGAGGAAGAAAAGGC	0.428000														151			7		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118550670	118550670	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:118550670G>A	uc001ehk.2	-	30	4652	c.4584C>T	c.(4582-4584)taC>taT	p.Y1528Y	SPAG17_uc021osr.1_Silent_p.Y38Y	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1528						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GACCTACCTGGTATGTTCCCT	0.478000														92			9		0	0	1	0	0
DTD1	92675	broad.mit.edu	37	20	18608809	18608809	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:18608809A>C	uc002wrf.4	+	3	570	c.409A>C	c.(409-411)Aat>Cat	p.N137H		NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN	Homo sapiens D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae) (DTD1), nuclear gene encoding mitochondrial protein, mRNA.	137					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			large_intestine(4)|lung(1)|ovary(2)	7						GCACATTCAGAATGATGGGCC	0.527000														113			6		0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56934475	56934475	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:56934475C>T	uc010ygl.1	+	4	613	c.448C>T	c.(448-450)Ctt>Ttt	p.L150F	ZNF583_uc002qnc.2_Missense_Mutation_p.L150F|ZNF583_uc010ygm.1_Missense_Mutation_p.L150F	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TAAAGAAATCCTTCCAGAAGT	0.363000														93			9		0	0	1	0	0
STC1	6781	broad.mit.edu	37	8	23709002	23709002	+	Missense_Mutation	SNP	C	T	T	rs146703503		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:23709002C>T	uc003xdw.1	-	2	588	c.304G>A	c.(304-306)Ggg>Agg	p.G102R		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	102					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GAGGTGACCCCGTTGGCGATG	0.517000														79			12		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991228	144991228	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:144991228G>A	uc003zaf.1	-	31	13342	c.13172C>T	c.(13171-13173)tCc>tTc	p.S4391F	PLEC_uc003zab.1_Missense_Mutation_p.S4254F|PLEC_uc003zac.1_Missense_Mutation_p.S4258F|PLEC_uc003zad.2_Missense_Mutation_p.S4254F|PLEC_uc003zae.1_Missense_Mutation_p.S4222F|PLEC_uc003zag.1_Missense_Mutation_p.S4232F|PLEC_uc003zah.2_Missense_Mutation_p.S4240F|PLEC_uc003zaj.2_Missense_Mutation_p.S4281F	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4391	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGGTAGGAGGAGGAGGATCC	0.687000														73			5		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737588	13737588	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:13737588C>T	uc003jfd.2	-	65	11270	c.11228G>A	c.(11227-11229)aGa>aAa	p.R3743K	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3743	AAA 5 (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)					CAGATGAGTTCTTTCTTTCTC	0.378000									Kartagener syndrome					55			9		0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105621917	105621917	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr14:105621917G>A	uc001yqg.3	-	4	1174	c.770C>T	c.(769-771)aCc>aTc	p.T257I	JAG2_uc001yqh.3_Missense_Mutation_p.T257I	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	257	EGF-like 1.				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCCAGGCACGGTGCATCCCCC	0.627000														108			7		0	0	1	0	0
MRPS9	64965	broad.mit.edu	37	2	105696467	105696467	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:105696467C>T	uc002tcn.4	+	4	504	c.436C>T	c.(436-438)Cca>Tca	p.P146S		NM_182640	NP_872578	P82933	RT09_HUMAN	Homo sapiens mitochondrial ribosomal protein S9 (MRPS9), nuclear gene encoding mitochondrial protein, mRNA.	146					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	p.R145H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGATGGCCGTCCATTTCACTA	0.343000														78			10		0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153475610	153475610	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:153475610C>T	uc002tye.3	+	13	1932	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F	FMNL2_uc010fob.3_5'Flank|FMNL2_uc002tyf.3_5'Flank	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	522					actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GGGGCCGCTTCCTCAGGACCC	0.572000														65			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089551	9089551	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:9089551C>T	uc002mkp.3	-	0	2468	c.2264G>A	c.(2263-2265)gGg>gAg	p.G755E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	755	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						TTCAGGAGTCCCTGTGGTAAT	0.473000														188			16		0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70721113	70721113	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:70721113C>T	uc003heo.3	-	2	290	c.177G>A	c.(175-177)atG>atA	p.M59I	SULT1E1_uc010ihv.1_Missense_Mutation_p.M59I	NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	59					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTTTATAGATCATATACACAA	0.363000														52			5		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176016391	176016391	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:176016391G>A	uc021yie.1	+	22	3343	c.3069G>A	c.(3067-3069)agG>agA	p.R1023R	CDHR2_uc003mem.2_Silent_p.R1023R|CDHR2_uc003men.1_Silent_p.R1023R	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1023	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCCAGGCCAGGGACAGACCTT	0.647000														206			12		0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	87022316	87022316	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:87022316C>T	uc003hps.3	-	7	1305	c.619G>A	c.(619-621)Gac>Aac	p.D207N	MAPK10_uc010ikg.3_Missense_Mutation_p.D169N|MAPK10_uc003hpr.3_Missense_Mutation_p.D169N|MAPK10_uc003hpt.3_Missense_Mutation_p.D207N|MAPK10_uc003hpu.3_Missense_Mutation_p.D207N|MAPK10_uc003hpv.3_Missense_Mutation_p.D62N|MAPK10_uc003hpn.3_5'Flank|MAPK10_uc011ccw.2_Missense_Mutation_p.D93N|MAPK10_uc003hpo.3_Missense_Mutation_p.D62N|MAPK10_uc003hpp.3_Missense_Mutation_p.D62N	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	207	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AGTCCAAAGTCCAGGATTTTC	0.433000														70			9		0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233243720	233243721	+	Missense_Mutation	DNP	CC	TT	TT	rs144266383		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:233243720_233243721CC>TT	uc002vsq.3	+	1	281_282	c.116_117CC>TT	c.(115-117)gcc>gTT	p.A39V		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	39						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CGCGAGGCAGCCGAGGCCCTGG	0.639000														134			14		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732480	37732480	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:37732480G>A	uc003xkm.2	-	2	1231	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F	RAB11FIP1_uc003xkn.2_Missense_Mutation_p.S392F|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.S240F	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	392					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAGGGTCATAGACTTCAAGGA	0.587000														109			13		0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114014438	114014438	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:114014438G>A	uc003ebg.2	+	1	863	c.108G>A	c.(106-108)gaG>gaA	p.E36E		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA.	36	Ig-like V-type.				negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	p.E36K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TTTCTGCAGAGAAAGGTGGCT	0.522000														262			12		0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031024	32031024	+	Silent	SNP	C	T	T	rs4449357	by1000genomes	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:32031024C>T	uc011axg.2	+	1	1002	c.453C>T	c.(451-453)atC>atT	p.I151I	ZNF860_uc021wuv.1_Silent_p.I151I	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						ACAAGCCTATCAAAGATCAGC	0.398000														109			6		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54586181	54586181	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr15:54586181A>C	uc021smr.1	+	8	3901	c.3901A>C	c.(3901-3903)Aag>Cag	p.K1301Q	UNC13C_uc021sms.1_Missense_Mutation_p.K1303Q|UNC13C_uc002acl.3_Missense_Mutation_p.K133Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1303	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACATTTCAAAAAGGAGTCAGA	0.353000														90			6		0	0	1	0	0
ERI2	112479	broad.mit.edu	37	16	20792028	20792028	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr16:20792028C>T	uc002dhs.3	-	10	966	c.923G>A	c.(922-924)aGg>aAg	p.R308K	ACSM3_uc002dhq.3_Intron|ACSM3_uc002dhr.3_Intron|ACSM3_uc010vba.2_Intron	NM_080663	NP_542394	A8K979	ERI2_HUMAN	Homo sapiens ERI1 exoribonuclease family member 2 (ERI2), transcript variant 2, mRNA.	0						intracellular	exonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						GTAGTTTTTCCTTTGCAGACA	0.408000														142			9		0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30749159	30749159	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:30749159C>T	uc002wxj.2	+	16	2005	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	TM9SF4_uc010zts.1_Silent_p.F497F|TM9SF4_uc002wxk.2_Silent_p.F573F	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	590						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCTTTTATTTCGTTAACAAGG	0.502000														68			4		0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142521128	142521128	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:142521128G>A	uc003evc.3	+	9	1835	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	TRPC1_uc003evb.3_Missense_Mutation_p.E533K|TRPC1_uc011bni.1_Missense_Mutation_p.E86K	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	567					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TACTTCAAAGGAGCAGAAGGA	0.328000														41			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140767861	140767861	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140767861C>T	uc003lkc.2	+	0	410	c.410C>T	c.(409-411)tCc>tTc	p.S137F	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_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	137	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			ACGCAAAATTCCTTTGAGCTG	0.433000														53			7		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10441027	10441027	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr17:10441027G>A	uc010coi.3	-	14	1670	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.I514I|MYH2_uc010coj.3_Silent_p.I514I	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	514	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			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						TCCCGAAGTCGATGAACGTCC	0.473000														244			25		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189855763	189855763	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:189855763A>T	uc002uqj.1	+	10	949	c.832A>T	c.(832-834)Aca>Tca	p.T278S	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	278	Triple-helical region.			T -> A (in Ref. 9; AA sequence).	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AAAGGGTGAAACAGGTGCTCC	0.294000														112			13		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169513601	169513601	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:169513601C>T	uc001ggg.1	-	11	2053	c.1908G>A	c.(1906-1908)agG>agA	p.R636R		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	636	F5/8 type A 2.|Plastocyanin-like 4.				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)	TGTCCTCATGCCTCTTTCCAT	0.493000														73			12		0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113850136	113850136	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr3:113850136C>T	uc003ebd.2	-	6	1258	c.835G>A	c.(835-837)Gag>Aag	p.E279K	DRD3_uc010hqn.1_Missense_Mutation_p.E279K|DRD3_uc003ebb.1_Missense_Mutation_p.E279K|DRD3_uc003ebc.1_Missense_Mutation_p.E279K	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	279					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GTCTTCTCCTCTCTTTTCAAC	0.512000														205			27		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091275	9091275	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr19:9091275C>T	uc002mkp.3	-	0	744	c.540G>A	c.(538-540)tgG>tgA	p.W180*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	180	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						ATCTTGTGTCCCAGGGGGTCT	0.473000														105			5		0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72339497	72339497	+	RNA	SNP	T	C	C	rs390732	by1000genomes	TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr7:72339497T>C	uc010lal.1	-	0		c.159A>G								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		TCCTCAGATTTGTCCCACCAC	0.582000														67			6		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36229846	36229846	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr13:36229846G>A	uc021rid.1	+	53	8793	c.8259G>A	c.(8257-8259)tgG>tgA	p.W2753*	NBEA_uc021ric.1_Nonsense_Mutation_p.W2750*|NBEA_uc010abi.3_Nonsense_Mutation_p.W1409*|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Nonsense_Mutation_p.W546*|NBEA_uc001uvd.3_Nonsense_Mutation_p.W331*	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2753						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCTGGTACTGGAGTGGGCGGC	0.473000														98			12		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140792935	140792935	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:140792935G>A	uc003lkl.2	+	0	193	c.193G>A	c.(193-195)Gag>Aag	p.E65K	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.E65K	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	61	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			GGAGCTGGCGGAGCGCGGAGT	0.607000														168			24		0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74313370	74313370	+	Silent	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:74313370G>A	uc003hgz.1	+	7	1082	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G	AFP_uc011cbg.1_Silent_p.G119G	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	345	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTCTTCAGGGGAAAAAAATA	0.333000									Alpha-Fetoprotein, Hereditary Persistence of					28			3		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895343	42895343	+	Silent	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr4:42895343C>T	uc003gwt.3	+	0	61	c.60C>T	c.(58-60)atC>atT	p.I20I		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	20					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GGTTTCGGATCGCGTCCTCTC	0.507000														161			21		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202135	56202135	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr18:56202135C>T	uc002lhj.4	-	4	5498	c.5284G>A	c.(5284-5286)Gaa>Aaa	p.E1762K	ALPK2_uc002lhk.1_Missense_Mutation_p.E1093K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1762							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AATGATGTTTCGAGTTTGGGC	0.403000														194			20		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354403	57354403	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr8:57354403G>A	uc003xsz.2	-	1	313	c.232C>T	c.(232-234)Caa>Taa	p.Q78*	PENK_uc003xta.3_Nonsense_Mutation_p.Q78*	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	78					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.P77S(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GTGCCATCTTGAGGAAGCTCT	0.483000														180			15		0	0	1	0	0
CDO1	1036	broad.mit.edu	37	5	115148929	115148929	+	Missense_Mutation	SNP	C	T	T	rs147725758		TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr5:115148929C>T	uc003krg.3	-	1	508	c.197G>A	c.(196-198)gGa>gAa	p.G66E		NM_001801	NP_001792	Q16878	CDO1_HUMAN	Homo sapiens cysteine dioxygenase, type I (CDO1), mRNA.	66					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity	p.G66E(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	TTTTCCATTTCCTTGATCCAC	0.333000														67			8		0	0	1	0	0
C1orf187	374946	broad.mit.edu	37	1	11766511	11766511	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:11766511G>A	uc001asr.1	+	1	336	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	Homo sapiens chromosome 1 open reading frame 187 (C1orf187), mRNA.	66					Wnt receptor signaling pathway|axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway	extracellular region				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(2)	15	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		GGGCAAGAAGGAGTGGGGCCC	0.721000														30			3		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14307132	14307132	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr20:14307132G>A	uc021war.1	-	0	1021	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.R341C|FLRT3_uc002wow.2_Missense_Mutation_p.R341C	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	341	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GCCATCCCACGAACCTTTTCT	0.473000														175			14		0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156105792	156105793	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr1:156105792_156105793CC>TT	uc001fni.2	+	5	1286_1287	c.1037_1038CC>TT	c.(1036-1038)gcc>gTT	p.A346V	LMNA_uc001fnf.1_Missense_Mutation_p.A346V|LMNA_uc001fng.2_Missense_Mutation_p.A346V|LMNA_uc001fnh.2_Missense_Mutation_p.A346V|LMNA_uc009wro.1_Missense_Mutation_p.A346V|LMNA_uc010pgz.1_Missense_Mutation_p.A234V|LMNA_uc001fnj.2_Missense_Mutation_p.A265V|LMNA_uc001fnk.2_Missense_Mutation_p.A247V|LMNA_uc009wrp.3_Missense_Mutation_p.P74L|LMNA_uc010pha.1_Missense_Mutation_p.A2V	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	346	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CGGGAGATGGCCGAGATGCGGG	0.644000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome					67			7		0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227660301	227660302	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chr2:227660301_227660302insT	uc021vxn.1	-	0	3153_3154	c.3153_3154insA	c.(3151-3156)gcagagfs	p.A1051fs	IRS1_uc002voh.4_Frame_Shift_Ins_p.A1051fs	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	1051					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCAGCCAGCTCTGCTGCCCCTT	0.668													---	77	---	---	9	---					
FAM58A	92002	broad.mit.edu	37	X	152861594	152861597	+	Frame_Shift_Del	DEL	TAAA	-	-			TCGA-EB-A3XD-01A-22D-A23B-08	TCGA-EB-A3XD-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d657fd9-e1e3-4102-b1a6-543d277be378	a23d40b1-745b-4c37-b706-b3758b030ecb	g.chrX:152861594_152861597delTAAA	uc011myr.2	-	2	260_263	c.149_152delTTTA	c.(148-153)atttacfs	p.I50fs	FAM58A_uc011mys.2_Frame_Shift_Del_p.I50fs	NM_152274	NP_689487	Q8N1B3	FA58A_HUMAN	Homo sapiens family with sequence similarity 58, member A (FAM58A), transcript variant 1, mRNA.	54					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAACTTATGGTAAATGGTGCAAGC	0.525													---	233	---	---	22	---					
