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
CDON	50937	broad.mit.edu	37	11	125891409	125891409	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:125891409G>C	uc009zbw.3	-	2	211	c.83C>G	c.(82-84)gCa>gGa	p.A28G	CDON_uc001qdc.4_Missense_Mutation_p.A28G|CDON_uc001qdd.4_Non-coding_Transcript|CDON_uc009zbx.3_Missense_Mutation_p.A28G	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	28					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AAAATAAGGTGCCAAGTCTAC	0.428000														14			12		0	0	0.024245	0	0
RASGRF2	5924	broad.mit.edu	37	5	80422926	80422926	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:80422926C>T	uc003kha.2	+	16	2680	c.2630C>T	c.(2629-2631)tCa>tTa	p.S877L	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	877					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding	p.S877T(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGCTCTGTTTCACCGGCTTCT	0.453000														46			16		0	0	0.012319	0	0
NELL1	4745	broad.mit.edu	37	11	21581830	21581830	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:21581830C>T	uc009yid.3	+	17	2119	c.1966C>T	c.(1966-1968)Ccc>Tcc	p.P656S	NELL1_uc010rdp.2_Missense_Mutation_p.P341S|NELL1_uc001mqe.3_Missense_Mutation_p.P628S|NELL1_uc001mqf.3_Missense_Mutation_p.P581S|NELL1_uc010rdo.2_Missense_Mutation_p.P571S|NELL1_uc001mqh.3_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	628	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.V656L(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CCCCTCTGGGCCCTCCTGCTC	0.547000														35			36		0	0	0.023175	0	0
STRA6	64220	broad.mit.edu	37	15	74474769	74474769	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:74474769C>T	uc002axj.3	-	14	1810	c.1450G>A	c.(1450-1452)Gga>Aga	p.G484R	STRA6_uc002axi.3_Missense_Mutation_p.G254R|STRA6_uc010ulh.2_Missense_Mutation_p.G483R|STRA6_uc002axk.3_Missense_Mutation_p.G445R|STRA6_uc002axl.3_Missense_Mutation_p.G377R|STRA6_uc010bji.3_Missense_Mutation_p.G445R|STRA6_uc021sqg.1_Missense_Mutation_p.G460R|STRA6_uc002axm.3_Missense_Mutation_p.G445R|STRA6_uc002axn.3_Missense_Mutation_p.G436R|STRA6_uc010uli.2_Missense_Mutation_p.G482R|STRA6_uc010bjj.1_Non-coding_Transcript	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	445					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GCCGTGGTTCCCAGGAAGAAG	0.612000														14			3		0	0	0.004672	0	0
FOXC2	2303	broad.mit.edu	37	16	86601503	86601503	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:86601503C>T	uc002fjq.3	+	0	647	c.562C>T	c.(562-564)Ccg>Tcg	p.P188S		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	188					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GGAGCCGCCCCCGGCGGCGTC	0.701000									Late-onset Hereditary Lymphedema					19			7		0	0	0.003080	0	0
MYO7B	4648	broad.mit.edu	37	2	128335766	128335766	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:128335766C>T	uc002top.3	+	8	961	c.908C>T	c.(907-909)tCg>tTg	p.S303L		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	303	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CACATCCGCTCGGCCATGAAG	0.607000														50			3		0	0	0.004672	0	0
SNX21	90203	broad.mit.edu	37	20	44469643	44469644	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:44469643_44469644CC>TT	uc002xpv.1	+	3	902_903	c.813_814CC>TT	c.(811-816)gcccag>gcTTag	p.Q272*	SNX21_uc002xpt.1_3'UTR|SNX21_uc002xps.1_Intron|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Nonsense_Mutation_p.Q83*|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Nonsense_Mutation_p.Q83*|SNX21_uc002xpz.1_Nonsense_Mutation_p.Q83*	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	Homo sapiens sorting nexin family member 21 (SNX21), transcript variant 1, mRNA.	272					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				AGCTGCAAGCCCAGCTGGGCAC	0.693000														8			4		0	0	0.004672	0	0
FUCA1	2517	broad.mit.edu	37	1	24172603	24172603	+	Silent	SNP	G	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:24172603G>C	uc001bie.3	-	6	1304	c.1221C>G	c.(1219-1221)gtC>gtG	p.V407V		NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	407					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CAAGGTTTAAGACTCCATTTT	0.413000														25			14		0	0	0.007413	0	0
MAML3	55534	broad.mit.edu	37	4	140810909	140810909	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:140810909G>A	uc021xsg.1	-	1	2433	c.1681C>T	c.(1681-1683)Ctg>Ttg	p.L561L	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	557	Asn-rich.|Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GTCTTCTGCAGGTTGTTTGCC	0.408000														192			81		0	0	0.014410	0	0
NOP56	10528	broad.mit.edu	37	20	2636095	2636095	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:2636095G>A	uc002wgh.3	+	5	823	c.694G>A	c.(694-696)Gag>Aag	p.E232K	NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_Missense_Mutation_p.E66K	NM_006392	NP_006383	O00567	NOP56_HUMAN	Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA.	232					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GGAGAAGCTGGAGGAGCTGAC	0.537000														36			35		0	0	0.019004	0	0
KRT17	3872	broad.mit.edu	37	17	39780634	39780634	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:39780634C>T	uc002hxh.2	-	0	249	c.128G>A	c.(127-129)gGa>gAa	p.G43E	JUP_uc010wfs.2_Intron|KRT17_uc010wft.2_Missense_Mutation_p.G43E	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	43	Head.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GCCAGCAGATCCCAGCCTGCA	0.692000														12			8		0	0	0.004482	0	0
CFTR	1080	broad.mit.edu	37	7	117246731	117246731	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:117246731G>A	uc003vjd.3	+	17	3044	c.2912G>A	c.(2911-2913)gGg>gAg	p.G971E	CFTR_uc011knq.2_Missense_Mutation_p.G377E	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	971	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ATTATAGGTGGGATTCTTAAT	0.299000									Cystic Fibrosis					71			107		0	0	0.014410	0	0
MAPK1	5594	broad.mit.edu	37	22	22160206	22160206	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:22160206G>A	uc002zvn.3	-	2	665	c.425C>T	c.(424-426)tCa>tTa	p.S142L	MAPK1_uc002zvo.3_Missense_Mutation_p.S142L|MAPK1_uc010gtk.1_Missense_Mutation_p.S142L	NM_002745	NP_620407	P28482	MK01_HUMAN	Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	142	Protein kinase.				ERK1 and ERK2 cascade|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|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|RNA polymerase II carboxy-terminal domain kinase activity|phosphatase binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	AACGTTAGCTGAATGGATATA	0.428000														162			12		0	0	0.013537	0	0
BTBD11	121551	broad.mit.edu	37	12	108011178	108011178	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:108011178G>A	uc001tmk.1	+	8	2717	c.2196G>A	c.(2194-2196)atG>atA	p.M732I	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Missense_Mutation_p.M732I|BTBD11_uc001tml.1_Missense_Mutation_p.M269I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	732						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGGGTGATATGAACTCTTTCA	0.517000														68			9		0	0	0.006214	0	0
ZNF705D	728957	broad.mit.edu	37	8	11970602	11970602	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:11970602G>A	uc003wva.3	+	6	1260	c.838G>A	c.(838-840)Gga>Aga	p.G280R	LOC100506990_uc011kxp.1_5'Flank|LOC100506990_uc011kxo.1_5'Flank	NM_001039615	NP_001034704	P0CH99	Z705D_HUMAN	Homo sapiens zinc finger protein 705D (ZNF705D), mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I279T(1)		endometrium(1)|lung(2)	3						AATTCACATTGGAGAGAAACC	0.423000														121			40		0	0	0.014410	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651347	1651347	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:1651347G>C	uc001lty.3	+	0	315	c.277G>C	c.(277-279)Ggg>Cgg	p.G93R	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	93	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.G93W(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCTCTTGCGGGGGCTCCAA	0.662000														138			73		0	0	0.014410	0	0
FBXO18	84893	broad.mit.edu	37	10	5953047	5953047	+	Silent	SNP	G	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:5953047G>T	uc001iit.3	+	6	1424	c.1320G>T	c.(1318-1320)gtG>gtT	p.V440V	FBXO18_uc001iir.3_Silent_p.V315V|FBXO18_uc001iis.3_Silent_p.V389V|FBXO18_uc009xig.3_Silent_p.V315V	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	389					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCATAGCCGTGCTTCTCTACG	0.572000														73			53		1.85257e-25	1.96348e-25	0.014410	1	0
SDR42E1	93517	broad.mit.edu	37	16	82033623	82033623	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:82033623C>T	uc002fgu.3	-	2	403	c.275G>A	c.(274-276)cGa>cAa	p.R92Q		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	92					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	p.R92*(1)		NS(2)|endometrium(1)|lung(4)|skin(3)	10						GATCAGGTTTCGATTGAGTTG	0.502000														44			22		0	0	0.021523	0	0
MUC17	140453	broad.mit.edu	37	7	100679132	100679132	+	Missense_Mutation	SNP	C	T	T	rs138483731	byFrequency	TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:100679132C>T	uc003uxp.1	+	2	4488	c.4435C>T	c.(4435-4437)Cct>Tct	p.P1479S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1479	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)					TTCAACAACTCCTGTTGACTC	0.483000														577			37		0	0	0.009718	0	0
MNX1	3110	broad.mit.edu	37	7	156798384	156798384	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:156798384G>A	uc003wnd.1	-	2	1339	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	MNX1_uc003wmz.3_Intron|MNX1_uc003wna.3_Intron|MNX1_uc003wnc.1_Missense_Mutation_p.R134C|MNX1_uc022aqk.1_Non-coding_Transcript|MNX1_uc010lqr.1_Non-coding_Transcript	NM_005515	NP_005506	P50219	MNX1_HUMAN	Homo sapiens motor neuron and pancreas homeobox 1 (MNX1), transcript variant 1, mRNA.	346				RRLR -> PPA (in Ref. 1; AAB60647).	humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCAGGCGGCGTCCGCTGCCC	0.746000														38			6		0	0	0.004482	0	0
NPAS4	266743	broad.mit.edu	37	11	66191724	66191724	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:66191724C>T	uc001ohx.1	+	6	1539	c.1363C>T	c.(1363-1365)Ctt>Ttt	p.L455F	NPAS4_uc010rpc.1_Missense_Mutation_p.L245F	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	455					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ATCCAGCACTCTTCAAGAACA	0.577000														174			38		0	0	0.027894	0	0
TEX11	56159	broad.mit.edu	37	X	69825276	69825276	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:69825276C>T	uc004dyl.3	-	24	2249	c.2087G>A	c.(2086-2088)aGa>aAa	p.R696K	TEX11_uc004dyk.3_Missense_Mutation_p.R371K|TEX11_uc004dym.3_Missense_Mutation_p.R681K	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	696							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TGAAGCTTTTCTCCCTTGCTC	0.398000														11			20		0	0	0.014323	0	0
UROC1	131669	broad.mit.edu	37	3	126220130	126220130	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:126220130G>A	uc010hsi.2	-	10	1130	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	UROC1_uc003eiz.2_Intron	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	0					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TTCCCTGGAAGGACACAAAAG	0.592000														79			60		0	0	0.014410	0	0
UNC13C	440279	broad.mit.edu	37	15	54307936	54307936	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:54307936G>A	uc021smr.1	+	0	2836	c.2836G>A	c.(2836-2838)Gaa>Aaa	p.E946K	UNC13C_uc021sms.1_Missense_Mutation_p.E946K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	946					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)		AGCTGAGATGGAAATAAGAGA	0.418000														10			6		0	0	0.021553	0	0
AHSP	51327	broad.mit.edu	37	16	31539884	31539884	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:31539884C>T	uc002ecj.3	+	2	266	c.181C>T	c.(181-183)Caa>Taa	p.Q61*		NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN	Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA.	61					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						AGGGGAGCCCCAAGAGCGAGA	0.532000														60			14		0	0	0.020292	0	0
USP40	55230	broad.mit.edu	37	2	234402079	234402079	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:234402079G>A	uc010zmr.2	-	23	2942	c.2942C>T	c.(2941-2943)tCc>tTc	p.S981F	USP40_uc010zms.1_Missense_Mutation_p.S79F|USP40_uc002vuo.1_Missense_Mutation_p.S145F	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	969					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		ACCTTGGCTGGAAGTGGCTCT	0.478000														27			15		0	0	0.008871	0	0
ARPC2	10109	broad.mit.edu	37	2	219114119	219114119	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:219114119C>T	uc002vhd.3	+	8	821	c.709C>T	c.(709-711)Cga>Tga	p.R237*	ARPC2_uc002vhe.3_Nonsense_Mutation_p.R237*|ARPC2_uc002vhf.3_Nonsense_Mutation_p.R123*	NM_152862	NP_690601	O15144	ARPC2_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 2, 34kDa (ARPC2), transcript variant 1, mRNA.	237					cellular component movement	Arp2/3 protein complex|Golgi apparatus|cell projection	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TGCCAGTGCTCGAGACAACAC	0.547000														46			25		0	0	0.006320	0	0
ATP8B4	79895	broad.mit.edu	37	15	50223484	50223484	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:50223484G>A	uc001zxu.3	-	15	1616	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	ATP8B4_uc010ber.3_Nonsense_Mutation_p.Q365*|ATP8B4_uc010ufd.2_Intron|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	492					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCAGGTGACTGAACTTGGTAA	0.413000														23			9		0	0	0.006214	0	0
CYP2C19	1557	broad.mit.edu	37	10	96443650	96443650	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:96443650G>A	uc001kjv.4	+	0	400	c.74G>A	c.(73-75)gGa>gAa	p.G25E	CYP2C19_uc001kjw.4_Missense_Mutation_p.G25E	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	25					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CAGAGCTCTGGAAGAGGGAGG	0.483000														26			27		0	0	0.027356	0	0
COL15A1	1306	broad.mit.edu	37	9	101796832	101796832	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:101796832G>A	uc004azb.1	+	17	2250	c.2044_splice	c.e17-1	p.G682_splice		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	682	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTTTTTCAGGGAGCAAGAGGG	0.348000														9			9		0	0	0.008291	0	0
IL1RL1	9173	broad.mit.edu	37	2	102965595	102965595	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:102965595G>A	uc002tbu.1	+	9	1445	c.1174G>A	c.(1174-1176)Gat>Aat	p.D392N	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	392	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATCCAGTACAGATGGGGCCAG	0.388000														57			33		0	0	0.008740	0	0
SALL3	27164	broad.mit.edu	37	18	76755153	76755153	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:76755153C>T	uc002lmt.3	+	1	3162	c.3162C>T	c.(3160-3162)tcC>tcT	p.S1054S	SALL3_uc010dra.3_Silent_p.S589S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1054					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCTGATCTCCAGCGCCGCAC	0.592000														60			13		0	0	0.024245	0	0
ANKRD46	157567	broad.mit.edu	37	8	101541941	101541941	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:101541941G>A	uc003yjo.1	-	3	430	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	ANKRD46_uc003yjm.3_Missense_Mutation_p.R41C|ANKRD46_uc003yjn.1_Missense_Mutation_p.R41C|ANKRD46_uc003yjp.1_Missense_Mutation_p.R41C	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	Homo sapiens ankyrin repeat domain 46 (ANKRD46), mRNA.	41						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CTGCTGTCACGAATATTTGGG	0.493000														33			70		0	0	0.014410	0	0
CHD2	1106	broad.mit.edu	37	15	93492257	93492257	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:93492257C>T	uc002bsp.3	+	12	2028	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*	CHD2_uc002bsn.3_Nonsense_Mutation_p.R485*|CHD2_uc002bso.1_Nonsense_Mutation_p.R485*|CHD2_uc010urb.2_Nonsense_Mutation_p.R498*	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	485					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TCTGGAACTTCGAGATTATCA	0.413000														90			9		0	0	0.004482	0	0
CNGA2	1260	broad.mit.edu	37	X	150912026	150912026	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:150912026C>A	uc004fey.1	+	6	1275	c.1051C>A	c.(1051-1053)Cta>Ata	p.L351I		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	351					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)					TGAGGAGTACCTATTTGTCAT	0.507000														23			50		9.52127e-25	1.00467e-24	0.014410	1	0
DSG4	147409	broad.mit.edu	37	18	28968393	28968393	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:28968393C>T	uc002kwr.2	+	3	415	c.280C>T	c.(280-282)Cga>Tga	p.R94*	DSG4_uc002kwq.2_Nonsense_Mutation_p.R94*	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	94	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGGATTGATCGACCACCATA	0.408000														29			8		0	0	0.004482	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868569	22868569	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:22868569C>T	uc002zwe.3	-	1	1639	c.1386G>A	c.(1384-1386)acG>acA	p.T462T	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Silent_p.T462T	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T462M(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCTCCTTCAACGTCAAAAACT	0.418000														104			7		0	0	0.001984	0	0
NASP	4678	broad.mit.edu	37	1	46073706	46073706	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:46073706C>T	uc001coi.2	+	5	1282	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	NASP_uc010olq.2_Missense_Mutation_p.P338S|NASP_uc021omz.1_Missense_Mutation_p.P377S|NASP_uc001coj.2_Intron|NASP_uc010olr.2_Missense_Mutation_p.P311S|NASP_uc001cok.2_Missense_Mutation_p.P258S	NM_002482	NP_002473	P49321	NASP_HUMAN	Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA.	375	Glu-rich (acidic).				DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	p.P374T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					TCCAGTTCTCCCTAAGGATGG	0.502000														75			19		0	0	0.018920	0	0
TSIX	9383	broad.mit.edu	37	X	73045207	73045207	+	RNA	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:73045207C>T	uc004ebn.2	+	0		c.33168C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		ATGCTTGCTCCTTTCTTTGTA	0.313000														5			9		0	0	0.006214	0	0
DNAJC13	23317	broad.mit.edu	37	3	132218016	132218016	+	Silent	SNP	T	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:132218016T>G	uc003eor.3	+	36	4268	c.4203T>G	c.(4201-4203)acT>acG	p.T1401T		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1401							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTATTCGGACTATAACAATGG	0.378000														37			23		0	0	0.024334	0	0
MYO18B	84700	broad.mit.edu	37	22	26222468	26222468	+	Splice_Site	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:26222468T>C	uc003abz.1	+	14	3036	c.2786_splice	c.e14+2	p.R929_splice	MYO18B_uc003aca.1_Splice_Site_p.R810_splice|MYO18B_uc010guy.1_Splice_Site_p.R810_splice|MYO18B_uc010guz.1_Splice_Site_p.R810_splice|MYO18B_uc011aka.1_Splice_Site_p.R83_splice|MYO18B_uc011akb.1_Splice_Site_p.R442_splice	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	929	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CATCAACAGGTAACGGGGCCT	0.547000														85			59		0	0	0.014410	0	0
KSR2	283455	broad.mit.edu	37	12	117996320	117996320	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:117996320G>A	uc001two.2	-	7	1352	c.1297C>T	c.(1297-1299)Cac>Tac	p.H433Y		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	462					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCCTCGGTGGATGATCAGA	0.507000														41			23		0	0	0.008361	0	0
SLC14A1	6563	broad.mit.edu	37	18	43310388	43310388	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:43310388C>T	uc010dnk.3	+	3	493	c.271C>T	c.(271-273)Ctt>Ttt	p.L91F	SLC14A1_uc002lbi.4_Intron|SLC14A1_uc010xcn.2_Missense_Mutation_p.L35F|SLC14A1_uc002lbf.4_Missense_Mutation_p.L35F|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Intron|SLC14A1_uc002lbh.4_Intron|SLC14A1_uc002lbj.4_Missense_Mutation_p.L91F|SLC14A1_uc002lbk.4_Missense_Mutation_p.L35F|SLC14A1_uc021ujg.1_Missense_Mutation_p.L35F	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	35						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCCCAAAGCTCTTGGCTATGT	0.493000														41			14		0	0	0.028581	0	0
LOC646214	646214	broad.mit.edu	37	15	21937189	21937189	+	RNA	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:21937189C>T	uc010tzj.1	-	0		c.3551G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		AATTCATCTCCTACCAGGTAA	0.408000														335			9		0	0	0.008291	0	0
GOT1	2805	broad.mit.edu	37	10	101163500	101163501	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:101163500_101163501GG>AA	uc001kpr.3	-	5	981_982	c.773_774CC>TT	c.(772-774)tcc>tTT	p.S258F		NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	258					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CGAAGTTCTTGGAGAAGGACTG	0.554000														27			32		0	0	0.004672	0	0
OR6C74	254783	broad.mit.edu	37	12	55641111	55641111	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:55641111G>A	uc010spg.2	+	0	40	c.40G>A	c.(40-42)Gga>Aga	p.G14R		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TATTCTTCTTGGACTGACAGA	0.338000														55			35		0	0	0.008740	0	0
OR5H14	403273	broad.mit.edu	37	3	97868547	97868547	+	Silent	SNP	C	T	T	rs148407623	by1000genomes	TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:97868547C>T	uc003dsg.1	+	0	318	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGTTTGCAATCAGTGTAACCA	0.398000														117			67		0	0	0.014410	0	0
KIAA1324	57535	broad.mit.edu	37	1	109716108	109716108	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:109716108C>T	uc021orb.1	+	5	930	c.709C>T	c.(709-711)Cga>Tga	p.R237*	KIAA1324_uc009wex.2_Nonsense_Mutation_p.R237*|KIAA1324_uc010ovg.2_Nonsense_Mutation_p.R135*|KIAA1324_uc009wey.3_Nonsense_Mutation_p.R237*	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	237					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GGAGCTAAATCGAGGCAATAA	0.438000														48			13		0	0	0.028581	0	0
ZNF600	162966	broad.mit.edu	37	19	53269236	53269236	+	Silent	SNP	G	A	A	rs151077073		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:53269236G>A	uc002qab.4	-	2	2059	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F	ZNF600_uc021uyz.1_Silent_p.F591F	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AATTACGCACGAAAGCCTTGT	0.423000														197			27		0	0	0.027356	0	0
LCK	3932	broad.mit.edu	37	1	32745282	32745282	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:32745282G>A	uc001bux.3	+	9	1113	c.975G>A	c.(973-975)gtG>gtA	p.V325V	LCK_uc001buy.3_Silent_p.V325V|LCK_uc001buz.3_Silent_p.V355V|LCK_uc010ohc.1_Silent_p.V369V|LCK_uc001bva.3_Silent_p.V332V	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	325	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GGAGTCTAGTGGATTTTCTCA	0.572000			T	TRB@	T-ALL									194			40		0	0	0.014410	0	0
ABCD3	5825	broad.mit.edu	37	1	94953115	94953115	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:94953115T>G	uc010oto.2	+	11	1089	c.987T>G	c.(985-987)aaT>aaG	p.N329K	ABCD3_uc001dqn.4_Missense_Mutation_p.N305K|ABCD3_uc010otp.2_Missense_Mutation_p.N232K|ABCD3_uc009wdr.3_Intron|ABCD3_uc001dqo.4_5'UTR	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	305	ABC transmembrane type-1.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ACCTACATAATTTCATTTTGT	0.299000														22			5		0	0	0.001984	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	30735	30735	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrGL000209.1:30735C>T	uc002qts.2	+	4	698	c.669C>T	c.(667-669)aaC>aaT	p.N223N	KIR2DL2_uc002qtt.2_Silent_p.N223N	NM_014219	NP_055034	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 (KIR2DL2), mRNA.	223					regulation of immune response	integral to membrane|plasma membrane	receptor activity										TTCTAGGAAACCCTTCAAATA	0.468000														58			78		0	0	0.014410	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978494	41978494	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:41978494G>A	uc001cgz.4	-	7	7611	c.6398C>T	c.(6397-6399)tCc>tTc	p.S2133F	HIVEP3_uc001cha.4_Missense_Mutation_p.S2133F|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	2133	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACCCACGGGGAGGCGCAGGT	0.657000														2			3		0	0	0.004672	0	0
NKTR	4820	broad.mit.edu	37	3	42680819	42680819	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:42680819C>T	uc003clo.3	+	12	3770	c.3623C>T	c.(3622-3624)aCc>aTc	p.T1208I	NKTR_uc003clm.1_Missense_Mutation_p.T955I|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Missense_Mutation_p.T955I|NKTR_uc003clq.1_Missense_Mutation_p.T1098I|NKTR_uc003clr.1_Missense_Mutation_p.T955I|NKTR_uc003cls.3_Missense_Mutation_p.T908I	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	1208					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGAGAAAGTACCGGGAAGAAG	0.517000														41			16		0	0	0.028581	0	0
MLF2	8079	broad.mit.edu	37	12	6859156	6859156	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:6859156C>G	uc010sfi.2	-	6	480	c.417G>C	c.(415-417)agG>agC	p.R139S	MLF2_uc001qqp.3_Missense_Mutation_p.R139S|MLF2_uc009zey.1_Missense_Mutation_p.R139S	NM_005439	NP_005430	Q15773	MLF2_HUMAN	Homo sapiens myeloid leukemia factor 2 (MLF2), transcript variant 1, mRNA.	139					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						CCCGAACAGTCCTCCGTGTCT	0.587000														77			9		0	0	0.008291	0	0
C3orf56	285311	broad.mit.edu	37	3	126916060	126916060	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:126916060C>T	uc003eji.1	+	1	772	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CAGAGGAGCTCCCTACTTGAA	0.647000														17			14		0	0	0.020292	0	0
LEPREL1	55214	broad.mit.edu	37	3	189838082	189838082	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:189838082G>A	uc011bsk.2	-	0	827	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	LEPREL1_uc003fsg.3_Intron	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	147					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.R147H(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGCACTCTGCGCTGGAAGTCG	0.667000														16			4		0	0	0.021553	0	0
CHPF	79586	broad.mit.edu	37	2	220406541	220406541	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:220406541G>A	uc002vmc.4	-	1	912	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S	CHPF_uc010zlh.2_Missense_Mutation_p.P67S|TMEM198_uc002vme.3_5'Flank|TMEM198_uc002vmf.3_5'Flank	NM_024536	NP_001182660	Q8IZ52	CHSS2_HUMAN	Homo sapiens chondroitin polymerizing factor (CHPF), transcript variant 1, mRNA.	229						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AAGTCCTGGGGCCGGCCCAGG	0.701000											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		8			7		0	0	0.001984	0	0
RIPK4	54101	broad.mit.edu	37	21	43161492	43161492	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr21:43161492G>A	uc002yzn.1	-	7	1909	c.1861C>T	c.(1861-1863)Cgc>Tgc	p.R621C		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	621						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATGAGGATGCGGGCCACGCGG	0.692000														82			13		0	0	0.024245	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864244	22864244	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:22864244C>T	uc003xcp.2	+	6	835	c.552C>T	c.(550-552)ccC>ccT	p.P184P	RHOBTB2_uc011kzp.1_Silent_p.P169P|RHOBTB2_uc003xcq.2_Silent_p.P162P|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	162	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.P184T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTACCAGGCCCATCAAACCTA	0.587000														32			66		0	0	0.014410	0	0
CXXC1	30827	broad.mit.edu	37	18	47812290	47812290	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:47812290C>G	uc002leq.4	-	4	1201	c.468G>C	c.(466-468)caG>caC	p.Q156H	CXXC1_uc002lep.4_Missense_Mutation_p.Q13H|CXXC1_uc002ler.4_Missense_Mutation_p.Q156H|CXXC1_uc010doy.3_Missense_Mutation_p.Q156H	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	156					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding	p.Q156H(2)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						gctgctgctgctggtgatgct	0.557000														18			3		0	0	0.004672	0	0
COLEC11	78989	broad.mit.edu	37	2	3691490	3691490	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:3691490C>T	uc002qya.3	+	6	746	c.598C>T	c.(598-600)Cgt>Tgt	p.R200C	COLEC11_uc002qxz.3_Missense_Mutation_p.R197C|COLEC11_uc002qyb.3_Missense_Mutation_p.R176C|COLEC11_uc002qyc.3_Missense_Mutation_p.R176C|COLEC11_uc010ewo.3_Missense_Mutation_p.R152C|COLEC11_uc010ewp.3_Missense_Mutation_p.R174C|COLEC11_uc010ewq.3_Missense_Mutation_p.R150C|COLEC11_uc010ewr.3_Missense_Mutation_p.R150C|COLEC11_uc010ews.3_Missense_Mutation_p.R126C	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA.	200	C-type lectin.					collagen	mannose binding	p.I200I(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CGGCCTGGCCCGTGTCTTCAT	0.667000														25			12		0	0	0.010729	0	0
C1orf226	400793	broad.mit.edu	37	1	162353105	162353105	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:162353105G>A	uc010pkt.1	+	2	588	c.580G>A	c.(580-582)Ggg>Agg	p.G194R	C1orf226_uc001gby.2_Missense_Mutation_p.G151R	NM_001135240	NP_001128712	A1L170	CA226_HUMAN	Homo sapiens chromosome 1 open reading frame 226 (C1orf226), transcript variant 1, mRNA.	151										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						TCTGGAGTATGGGACAGAGCC	0.607000														12			7		0	0	0.001984	0	0
DYRK4	8798	broad.mit.edu	37	12	4702206	4702206	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:4702206G>A	uc009zeh.1	+	5	544	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	DYRK4_uc001qmx.3_Missense_Mutation_p.E53K|DYRK4_uc001qmy.2_Missense_Mutation_p.E53K|DYRK4_uc021qtq.1_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	53	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GTCTCCATATGAACAAAGTGA	0.483000														71			40		0	0	0.008740	0	0
CDR2	1039	broad.mit.edu	37	16	22358900	22358900	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:22358900C>T	uc002dkn.3	-	4	1059	c.751G>A	c.(751-753)Gag>Aag	p.E251K		NM_001802	NP_001793	Q01850	CDR2_HUMAN	Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA.	251						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		ACCTCGGCCTCTAGTTCCAGC	0.542000														97			16		0	0	0.006122	0	0
DNAH8	1769	broad.mit.edu	37	6	38950147	38950147	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:38950147G>A	uc021yzh.1	+	85	12969	c.12860G>A	c.(12859-12861)gGa>gAa	p.G4287E	DNAH8_uc003ooe.2_Missense_Mutation_p.G4070E|DNAH8_uc003oog.1_Missense_Mutation_p.G519E	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGCCCCTTAGGATGGAATATT	0.348000														108			17		0	0	0.012319	0	0
DNAH5	1767	broad.mit.edu	37	5	13911564	13911564	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:13911564G>A	uc003jfd.2	-	11	1617	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	525	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTGGTCTAGGAAATTGTATT	0.308000									Kartagener syndrome					60			12		0	0	0.020292	0	0
LPAL2	80350	broad.mit.edu	37	6	160905108	160905108	+	RNA	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:160905108G>A	uc003qtj.2	-	5		c.1020C>T			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GGTTTGGAAGGATCCTCTAGG	0.512000														48			15		0	0	0.008871	0	0
UNC13C	440279	broad.mit.edu	37	15	54307555	54307555	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:54307555C>T	uc021smr.1	+	0	2455	c.2455C>T	c.(2455-2457)Ctg>Ttg	p.L819L	UNC13C_uc021sms.1_Silent_p.L819L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	819					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)		CACACAGAGTCTGAGTGGGTA	0.428000														26			27		0	0	0.012213	0	0
ANKFN1	162282	broad.mit.edu	37	17	54559724	54559724	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:54559724A>G	uc002iun.1	+	16	2143	c.2108A>G	c.(2107-2109)aAc>aGc	p.N703S		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	703										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CAGGCAAGGAACTTCCGCCTC	0.498000														79			73		0	0	0.014410	0	0
SIK3	23387	broad.mit.edu	37	11	116747031	116747031	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:116747031G>A	uc001ppy.3	-	7	895	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	SIK3_uc001ppz.3_Silent_p.L186L|SIK3_uc001pqa.3_Silent_p.L287L	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	287	UBA.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCCTCATTCAGGGGGTCCACC	0.468000														71			22		0	0	0.024334	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558864	129558864	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:129558864G>A	uc009zyl.1	-	8	3184	c.2856C>T	c.(2854-2856)ttC>ttT	p.F952F	TMEM132D_uc001uia.2_Silent_p.F490F	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	952						integral to membrane		p.F952L(2)		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)		CCTGCTCCTCGAAGGGAACCT	0.463000														105			34		0	0	0.009718	0	0
WDR65	149465	broad.mit.edu	37	1	43675472	43675472	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:43675472C>T	uc021omk.1	+	10	1960	c.1814C>T	c.(1813-1815)tCt>tTt	p.S605F	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.S594F|WDR65_uc001ciq.2_Missense_Mutation_p.S605F|WDR65_uc001cip.2_Missense_Mutation_p.S605F	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	605										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATCTCGCATTCTGGACGCATG	0.547000														47			7		0	0	0.003080	0	0
CACNA1C	775	broad.mit.edu	37	12	2714268	2714268	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:2714268G>A	uc009zdu.1	+	23	3355	c.3042G>A	c.(3040-3042)gtG>gtA	p.V1014V	CACNA1C_uc001qkc.2_Silent_p.V994V|CACNA1C_uc001qjz.2_Silent_p.V994V|CACNA1C_uc001qkd.2_Silent_p.V994V|CACNA1C_uc001qke.2_Silent_p.V994V|CACNA1C_uc001qkf.2_Silent_p.V994V|CACNA1C_uc009zdw.1_Silent_p.V994V|CACNA1C_uc001qkg.2_Silent_p.V994V|CACNA1C_uc001qkh.2_Silent_p.V994V|CACNA1C_uc001qkl.2_Silent_p.V1014V|CACNA1C_uc001qkj.2_Silent_p.V994V|CACNA1C_uc001qkk.2_Silent_p.V994V|CACNA1C_uc001qkn.2_Silent_p.V994V|CACNA1C_uc001qkm.2_Silent_p.V994V|CACNA1C_uc001qko.2_Silent_p.V1014V|CACNA1C_uc001qkp.2_Silent_p.V994V|CACNA1C_uc001qkq.2_Silent_p.V994V|CACNA1C_uc001qku.2_Silent_p.V994V|CACNA1C_uc001qkr.2_Silent_p.V994V|CACNA1C_uc001qks.2_Silent_p.V994V|CACNA1C_uc001qkt.2_Silent_p.V994V|CACNA1C_uc009zdv.1_Silent_p.V991V|CACNA1C_uc001qkb.2_Silent_p.V994V|CACNA1C_uc001qka.1_Silent_p.V529V|CACNA1C_uc001qki.1_Silent_p.V730V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1014					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.S1013Y(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCAATGTCGTGAAGATCTTGC	0.557000														45			18		0	0	0.018920	0	0
SHPK	23729	broad.mit.edu	37	17	3518752	3518752	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:3518752C>T	uc002fvz.1	-	5	1006	c.903G>A	c.(901-903)acG>acA	p.T301T		NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	Homo sapiens sedoheptulokinase (SHPK), mRNA.	301					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CGACTGGGGCCGTAGGGTCTG	0.607000														20			24		0	0	0.024334	0	0
TGM1	7051	broad.mit.edu	37	14	24731050	24731050	+	Missense_Mutation	SNP	G	A	A	rs138885883		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:24731050G>A	uc001wod.3	-	2	483	c.359C>T	c.(358-360)tCg>tTg	p.S120L	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	120				Missing (in Ref. 5; M86360).	cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GTCCGAGCGCGAGCTCAGCAA	0.592000														30			32		0	0	0.023175	0	0
ODZ2	57451	broad.mit.edu	37	5	167489158	167489158	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:167489158G>A	uc010jjd.3	+	6	1403	c.1403G>A	c.(1402-1404)aGg>aAg	p.R468K	ODZ2_uc003lzq.2_Missense_Mutation_p.R347K|ODZ2_uc003lzr.4_Missense_Mutation_p.R236K	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GTGTTTTGGAGGTCACAAATT	0.488000														44			7		0	0	0.003080	0	0
ELMO1	9844	broad.mit.edu	37	7	37298863	37298863	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:37298863C>T	uc022abv.1	-	5	1046	c.336G>A	c.(334-336)cgG>cgA	p.R112R	ELMO1_uc011kbc.2_Silent_p.R16R|ELMO1_uc003tfk.2_Silent_p.R112R|ELMO1_uc010kxg.2_Silent_p.R112R	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	112					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.R112Q(1)|p.R112W(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGTGACATCCCGGGAGAGGC	0.542000														29			29		0	0	0.017118	0	0
TRRAP	8295	broad.mit.edu	37	7	98524933	98524933	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:98524933C>T	uc003upp.3	+	22	3328	c.3119C>T	c.(3118-3120)cCc>cTc	p.P1040L	TRRAP_uc011kis.2_Missense_Mutation_p.P1040L|TRRAP_uc003upr.3_Missense_Mutation_p.P732L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1040					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCGCCCTGCCCTTTGTCGCC	0.612000														68			7		0	0	0.003080	0	0
OR52E6	390078	broad.mit.edu	37	11	5862252	5862252	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:5862252G>A	uc010qzq.2	-	0	876	c.876C>T	c.(874-876)atC>atT	p.I292I	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACCCCATAGATTACAGGAT	0.423000														42			11		0	0	0.016723	0	0
DNAH17	8632	broad.mit.edu	37	17	76490699	76490699	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:76490699C>T	uc010dhp.2	-	39	6371	c.6246G>A	c.(6244-6246)cgG>cgA	p.R2082R	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTCCCGTTTCCGAGGCACGT	0.592000														95			74		0	0	0.014410	0	0
MED13	9969	broad.mit.edu	37	17	60088523	60088523	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:60088523A>G	uc002izo.3	-	8	1432	c.1355T>C	c.(1354-1356)aTa>aCa	p.I452T	MED13_uc002izp.3_Missense_Mutation_p.I68T	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	452					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTAGGAAGTATTTGTTGTTG	0.403000														53			9		0	0	0.013537	0	0
CSMD3	114788	broad.mit.edu	37	8	113267593	113267593	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:113267593T>C	uc003ynu.3	-	61	10085	c.9926A>G	c.(9925-9927)tAc>tGc	p.Y3309C	CSMD3_uc003yns.3_Missense_Mutation_p.Y2511C|CSMD3_uc003ynt.3_Missense_Mutation_p.Y3269C|CSMD3_uc011lhx.2_Missense_Mutation_p.Y3140C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3309	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCTGACTGGTATATAAAGCT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				46			12		0	0	0.016723	0	0
DPF1	8193	broad.mit.edu	37	19	38706802	38706802	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:38706802G>A	uc021uty.1	-	8	984	c.957C>T	c.(955-957)tcC>tcT	p.S319S	DPF1_uc002ohm.3_Silent_p.S319S|DPF1_uc002ohl.3_Silent_p.S275S|DPF1_uc002ohn.3_Silent_p.S237S	NM_001135155	NP_001128627	Q92782	DPF1_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 1 (DPF1), transcript variant 1, mRNA.	275					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGTCCGCACAGGAGATGAGGT	0.642000														78			21		0	0	0.014323	0	0
PTPRJ	5795	broad.mit.edu	37	11	48157689	48157689	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:48157689C>T	uc001ngp.4	+	8	2069	c.1714C>T	c.(1714-1716)Cat>Tat	p.H572Y	PTPRJ_uc010rhr.1_Missense_Mutation_p.H17Y	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	572	Fibronectin type-III 6.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTATGTCTACCATTTAGTCAT	0.512000														38			12		0	0	0.016723	0	0
MED25	81857	broad.mit.edu	37	19	50335259	50335259	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:50335259G>A	uc002ppw.2	+	10	1360	c.1297G>A	c.(1297-1299)Gtg>Atg	p.V433M	MED25_uc010ybe.2_Missense_Mutation_p.V220M|MED25_uc002ppx.1_Missense_Mutation_p.V214M	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	433	Interaction with CREBBP.|Interaction with VP16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CCAGGTCTACGTGAATCATGG	0.602000														70			12		0	0	0.016723	0	0
GOT2	2806	broad.mit.edu	37	16	58749996	58749996	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:58749996G>A	uc002eof.1	-	7	1055	c.941C>T	c.(940-942)cCc>cTc	p.P314L	GOT2_uc010vim.1_Missense_Mutation_p.P271L	NM_002080	NP_002071	P00505	AATM_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	314					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGAATACATGGGACGGATCAA	0.498000														18			20		0	0	0.014323	0	0
SCN9A	6335	broad.mit.edu	37	2	167141030	167141030	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:167141030G>A	uc010fpl.3	-	11	2248	c.1907C>T	c.(1906-1908)gCc>gTc	p.A636V	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.A507V|SCN9A_uc002uds.1_Missense_Mutation_p.A507V|SCN9A_uc002udt.1_Missense_Mutation_p.A507V	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	636						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAGCATGAGGGCTGAGCGTCC	0.542000														34			15		0	0	0.006122	0	0
IL1F10	84639	broad.mit.edu	37	2	113832941	113832941	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:113832941G>A	uc002tiu.3	+	4	534	c.459G>A	c.(457-459)taG>taA	p.*153*	IL1F10_uc002tiv.3_Silent_p.*153*|IL1F10_uc002tiw.3_Silent_p.*145*	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	0						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						AGAGCTGGTAGGGAGACAGGA	0.547000														33			25		0	0	0.021523	0	0
MYO16	23026	broad.mit.edu	37	13	109704766	109704766	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr13:109704766G>A	uc010agk.2	+	24	3613	c.2991G>A	c.(2989-2991)aaG>aaA	p.K997K	MYO16_uc001vqt.1_Silent_p.K975K|MYO16_uc001vqu.1_Silent_p.K775K|MYO16_uc010tjh.1_Silent_p.K487K	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	975	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGCTCAGTAAGAAAATGACAG	0.343000														55			10		0	0	0.013537	0	0
TAF4	6874	broad.mit.edu	37	20	60585143	60585143	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:60585143G>T	uc002ybs.3	-	3	1720	c.1720C>A	c.(1720-1722)Cgc>Agc	p.R574S		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	574					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GGTACCGTGCGCTGAGGAGTC	0.612000														59			11		1.5842e-08	1.64978e-08	0.016723	1	0
BCL9	607	broad.mit.edu	37	1	147091879	147091879	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:147091879C>G	uc001epq.3	+	7	2658	c.1918C>G	c.(1918-1920)Cag>Gag	p.Q640E	BCL9_uc010ozr.1_Missense_Mutation_p.Q566E	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	640	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGCAGAGAAACAGCTGGGTCT	0.597000			T	"""IGH@, IGL@"""	B-ALL									59			9		0	0	0.004482	0	0
TADA3	10474	broad.mit.edu	37	3	9827040	9827040	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:9827040C>T	uc003bsx.1	-	6	1428	c.880G>A	c.(880-882)Ggg>Agg	p.G294R	TADA3_uc010hcn.1_Missense_Mutation_p.G294R|TADA3_uc003bsy.3_Missense_Mutation_p.G294R|TADA3_uc003bsw.1_Missense_Mutation_p.G123R	NM_006354	NP_006345	O75528	TADA3_HUMAN	Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA.	294					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GTGCTTGCCCCGTCAGCCCCT	0.507000														41			10		0	0	0.024245	0	0
XIRP2	129446	broad.mit.edu	37	2	168103758	168103758	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:168103758G>A	uc002udx.3	+	8	5945	c.5856G>A	c.(5854-5856)gtG>gtA	p.V1952V	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.V1777V|XIRP2_uc010fpq.3_Silent_p.V1730V|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1777					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTAAAGCTGTGATGGCAGGAT	0.408000														30			11		0	0	0.010729	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	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					40			86		0	0	0.014410	0	0
CYP11A1	1583	broad.mit.edu	37	15	74636322	74636322	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:74636322C>T	uc002axt.2	-	3	792	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	CYP11A1_uc002axs.2_Missense_Mutation_p.V55I|CYP11A1_uc010bjm.1_Missense_Mutation_p.V55I|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_5'UTR	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	213					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CCAAAAATGACGTTAGTGATG	0.592000														39			8		0	0	0.008291	0	0
PRKAA2	5563	broad.mit.edu	37	1	57157100	57157100	+	Silent	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:57157100T>C	uc001cyk.4	+	2	341	c.270T>C	c.(268-270)ttT>ttC	p.F90F		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	90	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CAGATTTTTTTATGGTAATGG	0.318000														36			8		0	0	0.013537	0	0
USP4	7375	broad.mit.edu	37	3	49339873	49339873	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:49339873G>A	uc003cwq.2	-	9	1310	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	USP4_uc003cwp.2_Missense_Mutation_p.R141W|USP4_uc003cwr.2_Missense_Mutation_p.R364W	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	411					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTCTTTACCCGGTTCAGATCT	0.458000														71			25		0	0	0.024334	0	0
OTOGL	283310	broad.mit.edu	37	12	80714217	80714217	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:80714217C>T	uc001szd.3	+	32	3797	c.3791C>T	c.(3790-3792)tCc>tTc	p.S1264F		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GCACTTGTTTCCTTGGAATCT	0.403000														36			9		0	0	0.008291	0	0
CAMK2A	815	broad.mit.edu	37	5	149652701	149652701	+	Silent	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:149652701T>C	uc003lru.2	-	1	299	c.84A>G	c.(82-84)cgA>cgG	p.R28R	CAMK2A_uc003lrt.2_Silent_p.R28R|CAMK2A_uc010jhe.2_Silent_p.R28R	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	28	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACACACCTTCGCACCACCG	0.562000														73			10		0	0	0.008291	0	0
UXS1	80146	broad.mit.edu	37	2	106713260	106713260	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:106713260G>A	uc002tdm.3	-	13	1143	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*	UXS1_uc002tdk.3_Nonsense_Mutation_p.Q147*|UXS1_uc002tdl.3_Nonsense_Mutation_p.Q181*|UXS1_uc002tdn.3_Nonsense_Mutation_p.Q354*|UXS1_uc002tdo.3_Nonsense_Mutation_p.Q292*	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	349					cellular metabolic process	Golgi cisterna membrane|integral to membrane	UDP-glucuronate decarboxylase activity|coenzyme binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						GAGAGAAACTGAATTTCACTT	0.463000														6			4		0	0	0.014758	0	0
MUC16	94025	broad.mit.edu	37	19	9082451	9082451	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:9082451T>C	uc002mkp.3	-	0	9568	c.9364A>G	c.(9364-9366)Aca>Gca	p.T3122A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3123	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						AACAAGGATGTTGGGGTCTCA	0.498000														123			51		0	0	0.014410	0	0
MYO18B	84700	broad.mit.edu	37	22	26242184	26242184	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:26242184G>A	uc003abz.1	+	18	3736	c.3486G>A	c.(3484-3486)agG>agA	p.R1162R	MYO18B_uc003aca.1_Silent_p.R1043R|MYO18B_uc010guy.1_Silent_p.R1044R|MYO18B_uc010guz.1_Silent_p.R1043R|MYO18B_uc011aka.1_Silent_p.R316R|MYO18B_uc011akb.1_Silent_p.R675R	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1162	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGGTGAGGAGGACCTTTGCCA	0.667000														52			8		0	0	0.006214	0	0
CHURC1-FNTB	100529261	broad.mit.edu	37	14	65499385	65499385	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:65499385C>T	uc001xia.3	+	6	828	c.663C>T	c.(661-663)ctC>ctT	p.L221L	CHURC1-FNTB_uc010tsl.2_Silent_p.L282L|CHURC1-FNTB_uc010tsm.2_Silent_p.L175L|MAX_uc001xic.1_Intron|CHURC1-FNTB_uc001xid.3_5'UTR|CHURC1-FNTB_uc010tso.2_Silent_p.L136L	NM_002028	NP_002019	B4DL54	B4DL54_HUMAN	Homo sapiens farnesyltransferase, CAAX box, beta (FNTB), mRNA.	255					multicellular organismal development|positive regulation of transcription, DNA-dependent		transferase activity|zinc ion binding										CTCCAGACCTCTTTGAGGGCA	0.507000														23			14		0	0	0.016723	0	0
LIX1	167410	broad.mit.edu	37	5	96460208	96460208	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:96460208C>T	uc003kmy.4	-	1	448	c.208G>A	c.(208-210)Gtg>Atg	p.V70M		NM_153234	NP_694966	Q8N485	LIX1_HUMAN	Homo sapiens Lix1 homolog (chicken) (LIX1), mRNA.	70										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		GGGAGGGTCACGTAACTCACA	0.468000														45			13		0	0	0.013537	0	0
ZNF385B	151126	broad.mit.edu	37	2	180311376	180311376	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:180311376C>T	uc002unn.4	-	6	1396	c.792G>A	c.(790-792)aaG>aaA	p.K264K	ZNF385B_uc002unj.3_Silent_p.K162K|ZNF385B_uc002unl.3_Silent_p.K161K|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Silent_p.K188K	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	264						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)			CATTTGTGCTCTTGGAGGGAG	0.478000														86			35		0	0	0.025465	0	0
ENTPD8	377841	broad.mit.edu	37	9	140331357	140331357	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:140331357C>T	uc004cmw.3	-	4	703	c.519G>A	c.(517-519)tgG>tgA	p.W173*	ENTPD8_uc004cmx.3_Nonsense_Mutation_p.W173*|ENTPD8_uc004cmy.2_3'UTR	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA.	173						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGACAGTGATCCAACCAAAGG	0.667000														47			52		0	0	0.014410	0	0
FCRL2	79368	broad.mit.edu	37	1	157740251	157740251	+	Silent	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:157740251T>C	uc001fre.2	-	2	317	c.258A>G	c.(256-258)ggA>ggG	p.G86G	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.G86G|FCRL2_uc009wsp.2_Silent_p.G86G|FCRL2_uc010pia.1_Silent_p.G86G	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	86	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GAAAGAGTTGTCCTTTGGTAC	0.383000														65			32		0	0	0.019004	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882732	228882732	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:228882732C>T	uc002vpq.2	-	6	2885	c.2838G>A	c.(2836-2838)gcG>gcA	p.A946A	SPHKAP_uc002vpp.2_Silent_p.A946A|SPHKAP_uc010zlx.1_Silent_p.A946A	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	946	PKA-RII subunit binding domain (By similarity).					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)		CAAGGCAAATCGCTGCAATTT	0.473000														80			51		0	0	0.014410	0	0
KRT34	3885	broad.mit.edu	37	17	39535262	39535262	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:39535262C>T	uc002hwm.3	-	5	1181	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	390	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				ACACTCCAGCCGGGCACGCAC	0.577000														172			23		0	0	0.012213	0	0
DNAH5	1767	broad.mit.edu	37	5	13794093	13794093	+	Silent	SNP	A	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:13794093A>G	uc003jfd.2	-	47	8004	c.7962T>C	c.(7960-7962)gtT>gtC	p.V2654V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2654	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)					CATCAATAAAAACAGTCATCT	0.348000									Kartagener syndrome					29			20		0	0	0.010504	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377769	125377769	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:125377769C>T	uc011lyy.2	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						TGGCCATATTCTATGGCACCC	0.557000														40			48		0	0	0.014410	0	0
VWA3B	200403	broad.mit.edu	37	2	98906990	98906990	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:98906990G>A	uc002syo.3	+	22	3326	c.3062G>A	c.(3061-3063)gGa>gAa	p.G1021E	VWA3B_uc002sym.3_Missense_Mutation_p.G1021E|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.G678E|VWA3B_uc002syp.1_Missense_Mutation_p.G413E|VWA3B_uc002syq.1_Missense_Mutation_p.G297E|VWA3B_uc002syr.1_Missense_Mutation_p.G338E|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	1021										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAATTGCAAGGAAATCCAACA	0.353000														12			5		0	0	0.014758	0	0
HMSD	284293	broad.mit.edu	37	18	61621654	61621654	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:61621654A>C	uc010dqj.3	+	2	234	c.85A>C	c.(85-87)Agt>Cgt	p.S29R		NM_001123366	NP_001116838	A8MTL9	HMSD_HUMAN	Homo sapiens histocompatibility (minor) serpin domain containing (HMSD), mRNA.	29						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						ACTTTGTTTTAGTAAAATCGG	0.338000														44			16		0	0	0.008871	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144952267	144952267	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:144952267C>A	uc021ouh.1	-	3	754	c.452G>T	c.(451-453)tGg>tTg	p.W151L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.W151L|PDE4DIP_uc001elx.4_Missense_Mutation_p.W217L|PDE4DIP_uc001emd.2_Missense_Mutation_p.W151L|PDE4DIP_uc001emc.2_Missense_Mutation_p.W151L|PDE4DIP_uc001emg.2_Missense_Mutation_p.W151L|PDE4DIP_uc021oui.1_Missense_Mutation_p.W154L|PDE4DIP_uc021ouj.1_Missense_Mutation_p.W119L|PDE4DIP_uc001emh.3_Missense_Mutation_p.W288L	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	151					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TACATCTTCCCAGTTTTTGGT	0.542000			T	PDGFRB	MPD									78			8		1.58986e-06	1.64492e-06	0.008291	1	0
AIM1L	55057	broad.mit.edu	37	1	26671778	26671778	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:26671778G>A	uc001bmd.4	-	1	1521	c.1371C>T	c.(1369-1371)ccC>ccT	p.P457P		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 10.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCTGGGTAAAGGGGAGGACAG	0.582000														45			14		0	0	0.028581	0	0
COL3A1	1281	broad.mit.edu	37	2	189859820	189859820	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:189859820G>A	uc002uqj.1	+	20	1621	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	502	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)	CATCCCAGGAGAAAAGGTAGA	0.388000														59			18		0	0	0.010504	0	0
SCNN1A	6337	broad.mit.edu	37	12	6483883	6483883	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:6483883C>T	uc001qnw.3	-	0	508	c.244G>A	c.(244-246)Ggg>Agg	p.G82R	SCNN1A_uc001qnx.3_Missense_Mutation_p.G23R|SCNN1A_uc010sfb.2_Missense_Mutation_p.G46R|LTBR_uc010sfc.1_5'Flank	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	23					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	p.G23R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CGCTTGTTCCCCTTCATGAGC	0.662000														41			14		0	0	0.020292	0	0
C9orf3	84909	broad.mit.edu	37	9	97535328	97535328	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:97535328T>C	uc004ava.3	+	1	977	c.842T>C	c.(841-843)cTt>cCt	p.L281P	C9orf3_uc011lui.2_Non-coding_Transcript|C9orf3_uc004aux.2_Missense_Mutation_p.L281P|C9orf3_uc004auy.3_Missense_Mutation_p.L281P|C9orf3_uc004auz.1_Missense_Mutation_p.L281P	NM_001193329	NP_001180258	Q8N6M6	AMPO_HUMAN	Homo sapiens chromosome 9 open reading frame 3 (C9orf3), transcript variant 1, mRNA.	281					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AACAGGGCCCTTTTTCCATGC	0.463000														97			3		0	0	0.004672	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947173	57947173	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:57947173T>C	uc021qjm.1	+	0	257	c.257T>C	c.(256-258)cTg>cCg	p.L86P	OR9Q1_uc001nmj.3_Missense_Mutation_p.L86P	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GCAGTGCTGCTGGAGCATGGG	0.532000														47			33		0	0	0.010818	0	0
OSMR	9180	broad.mit.edu	37	5	38904069	38904069	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:38904069G>A	uc003jln.2	+	7	1479	c.1077G>A	c.(1075-1077)agG>agA	p.R359R		NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	359	Fibronectin type-III 1.				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)					ACTCCATAAGGAATAATTTCA	0.313000														23			3		0	0	0.009096	0	0
PPP6C	5537	broad.mit.edu	37	9	127920564	127920564	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:127920564C>T	uc010mwv.3	-	4	667	c.446G>A	c.(445-447)gGa>gAa	p.G149E	PPP6C_uc004bpg.4_Missense_Mutation_p.G112E|PPP6C_uc010mww.3_Missense_Mutation_p.G90E|PPP6C_uc011lzr.2_Intron	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	112					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.L149L(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						CTCATGATTTCCTCGCAAAAG	0.358000														44			28		0	0	0.008361	0	0
PITPNM3	83394	broad.mit.edu	37	17	6364707	6364707	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:6364707T>G	uc002gdd.4	-	17	2627	c.2476A>C	c.(2476-2478)Aac>Cac	p.N826H	PITPNM3_uc010cln.3_Missense_Mutation_p.N790H|PITPNM3_uc010clm.3_Missense_Mutation_p.N309H|PITPNM3_uc002gdc.4_Missense_Mutation_p.N417H	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	826					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TGCATGAGGTTGCGCAGGAAG	0.642000														46			37		0	0	0.017118	0	0
FBXO27	126433	broad.mit.edu	37	19	39516072	39516072	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:39516072G>A	uc002okh.3	-	5	913	c.831C>T	c.(829-831)atC>atT	p.I277I		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Homo sapiens F-box protein 27 (FBXO27), mRNA.	277	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	p.I277I(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGACTCGCACGATCACACTGG	0.587000														103			20		0	0	0.014323	0	0
HSPG2	3339	broad.mit.edu	37	1	22214554	22214554	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:22214554G>A	uc009vqd.3	-	6	620	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	HSPG2_uc001bfj.3_Nonsense_Mutation_p.Q194*|HSPG2_uc009vqe.1_Silent_p.P92P	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	194	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTTGGGAACTGGGGCACTGCA	0.647000														24			15		0	0	0.004990	0	0
FABP2	2169	broad.mit.edu	37	4	120240779	120240779	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:120240779C>T	uc003icw.3	-	2	319	c.260G>A	c.(259-261)gGa>gAa	p.G87E		NM_000134	NP_000125	P12104	FABPI_HUMAN	Homo sapiens fatty acid binding protein 2, intestinal (FABP2), mRNA.	87							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						AAGTTTATTTCCCTCAAGGCT	0.358000														22			8		0	0	0.003080	0	0
DUXA	503835	broad.mit.edu	37	19	57670603	57670603	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:57670603C>T	uc002qoa.1	-	2	269	c.224G>A	c.(223-225)aGa>aAa	p.R75K		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	75						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		AGCTTCTGGTCTTTTCTGGAA	0.423000														39			28		0	0	0.013726	0	0
C3orf26	84319	broad.mit.edu	37	3	99891217	99891217	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:99891217C>T	uc003dtl.3	+	7	783	c.637C>T	c.(637-639)Ccg>Tcg	p.P213S	C3orf26_uc021xbt.1_Missense_Mutation_p.P195S	NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	Homo sapiens chromosome 3 open reading frame 26 (C3orf26), transcript variant 1, mRNA.	213							ATP binding|ATP-dependent helicase activity|nucleic acid binding			large_intestine(4)|lung(5)|ovary(1)|skin(2)|urinary_tract(2)	14						TGTAGGAACTCCGGGGAGAAT	0.478000														28			36		0	0	0.008740	0	0
TINAGL1	64129	broad.mit.edu	37	1	32044857	32044857	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:32044857C>T	uc001bta.3	+	2	489	c.363C>T	c.(361-363)aaC>aaT	p.N121N	TINAGL1_uc010ogi.1_Silent_p.N121N|TINAGL1_uc010ogj.2_Silent_p.N121N|TINAGL1_uc010ogk.1_Silent_p.N121N|TINAGL1_uc021oko.1_Silent_p.N16N	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	121					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ACTGGGACAACTGTAACCGTT	0.493000														82			33		0	0	0.009718	0	0
NELL2	4753	broad.mit.edu	37	12	45168628	45168628	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:45168628C>T	uc010skz.1	-	9	1171	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	NELL2_uc001rof.3_Missense_Mutation_p.G298E|NELL2_uc001rog.2_Missense_Mutation_p.G299E|NELL2_uc001roh.2_Missense_Mutation_p.G299E|NELL2_uc009zkd.2_Missense_Mutation_p.G298E|NELL2_uc010sla.1_Missense_Mutation_p.G322E|NELL2_uc001roi.1_Missense_Mutation_p.G299E|NELL2_uc010slb.1_Missense_Mutation_p.G298E|NELL2_uc001roj.2_Missense_Mutation_p.G299E	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	299	VWFC 2.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CTGGATGGTTCCATTCTGAAA	0.353000											OREG0021741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			11		0	0	0.008291	0	0
PCGF2	7703	broad.mit.edu	37	17	36895320	36895320	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:36895320C>T	uc002hqp.1	-	6	562	c.316_splice	c.e6+1	p.V106_splice		NM_007144	NP_009075	P35227	PCGF2_HUMAN	Homo sapiens polycomb group ring finger 2 (PCGF2), mRNA.	106					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					AGCACACTCACCCTCCGTCAG	0.597000														85			12		0	0	0.020292	0	0
ABO	28	broad.mit.edu	37	9	136131475	136131475	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:136131475C>T	uc004cda.1	-	7	665	c.640G>A	c.(640-642)Gag>Aag	p.E214K	ABO_uc010naf.1_Missense_Mutation_p.E74K|ABO_uc011mcz.1_Missense_Mutation_p.E74K|ABO_uc010nag.1_Missense_Mutation_p.E74K	NM_020469	NP_065202	P16442	BGAT_HUMAN	Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.	215			M -> R (in allele Bel01; loss of manganese binding and reduced catalytic activity; dbSNP:rs55827808).		protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TCGCGGAACTCCATGTCCACG	0.642000														4			4		0	0	0.014758	0	0
ABCA2	20	broad.mit.edu	37	9	139907007	139907007	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:139907007G>A	uc004ckm.1	-	31	5254	c.5204C>T	c.(5203-5205)tCc>tTc	p.S1735F	ABCA2_uc022bpy.1_Missense_Mutation_p.S1636F|ABCA2_uc022bpz.1_Missense_Mutation_p.S1706F|ABCA2_uc011mem.1_Missense_Mutation_p.S1705F|ABCA2_uc004ckl.1_Missense_Mutation_p.S1636F|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1705					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGCTGGGATGGACTTCAGGAC	0.677000														32			34		0	0	0.007835	0	0
EEF2K	29904	broad.mit.edu	37	16	22268095	22268095	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:22268095C>T	uc002dki.3	+	6	1130	c.645C>T	c.(643-645)atC>atT	p.I215I	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	215	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TGTGCATCATCGAGCTGAAGG	0.607000														27			15		0	0	0.028581	0	0
CFH	3075	broad.mit.edu	37	1	196874369	196874369	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:196874369G>A	uc001gtp.3	+	2	525	c.388G>A	c.(388-390)Gga>Aga	p.G130R	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.G129R|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	490	Sushi 2.				complement activation, alternative pathway	extracellular space		p.G129*(1)		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						AAATTCTTCAGGATCAATTAC	0.318000														62			48		0	0	0.014410	0	0
COL14A1	7373	broad.mit.edu	37	8	121222048	121222048	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:121222048A>G	uc003yox.3	+	11	1640	c.1375A>G	c.(1375-1377)Atg>Gtg	p.M459V	COL14A1_uc003yoy.3_Missense_Mutation_p.M137V|COL14A1_uc010mde.1_Missense_Mutation_p.M137V	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	459	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGAGAACAGCATGCGAGTCAA	0.473000														39			117		0	0	0.014410	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40847632	40847632	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:40847632G>T	uc002iay.3	+	18	3302	c.3086G>T	c.(3085-3087)aGc>aTc	p.S1029I	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	1029					axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding	p.S1029I(2)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACATGCTGAGCCGGCCAGTG	0.617000														63			6		0.0215528	0.0218731	0.021553	1	0
CGN	57530	broad.mit.edu	37	1	151495982	151495982	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:151495982C>T	uc009wmw.3	+	5	1357	c.1213C>T	c.(1213-1215)Cga>Tga	p.R405*		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	399	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGAGTGCAGCCGACTGCAGGA	0.612000														23			24		0	0	0.016522	0	0
SLC35E4	339665	broad.mit.edu	37	22	31042757	31042757	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:31042757G>A	uc003ais.1	+	1	1437	c.792G>A	c.(790-792)ctG>ctA	p.L264L	SLC35E4_uc003ait.3_Intron	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.	264	Leu-rich.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCTGCCTCCTGTCTGTTCTCT	0.667000														47			5		0	0	0.014758	0	0
MYH11	4629	broad.mit.edu	37	16	15818207	15818207	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:15818207C>T	uc002ddx.3	-	31	4304	c.4197G>A	c.(4195-4197)gaG>gaA	p.E1399E	MYH11_uc002ddv.3_Silent_p.E1399E|MYH11_uc002ddw.3_Silent_p.E1392E|MYH11_uc002ddy.3_Silent_p.E1392E|MYH11_uc010bvg.3_Silent_p.E1224E|NDE1_uc010uzy.2_3'UTR|NDE1_uc002dds.3_3'UTR|MYH11_uc010bvh.3_Silent_p.E98E|NDE1_uc002ddz.1_Non-coding_Transcript	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1392					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTTCTTCCCCTCTTCCAGAG	0.552000			T	CBFB	AML									37			16		0	0	0.004990	0	0
SAMD9	54809	broad.mit.edu	37	7	92733753	92733753	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:92733753C>T	uc003umf.3	-	2	1928	c.1658G>A	c.(1657-1659)aGa>aAa	p.R553K	SAMD9_uc003umg.3_Missense_Mutation_p.R553K|SAMD9_uc022ahg.1_Missense_Mutation_p.R553K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	553						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)			GAGGGGATCTCTTGGGTCATC	0.408000														145			16		0	0	0.006122	0	0
TAF15	8148	broad.mit.edu	37	17	34171094	34171094	+	Silent	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:34171094T>C	uc002hkd.3	+	12	1106	c.1020T>C	c.(1018-1020)taT>taC	p.Y340Y	TAF15_uc010ctw.1_Non-coding_Transcript|TAF15_uc002hkc.3_Silent_p.Y337Y	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	340	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTGGAGGATATAGAGGTCGTG	0.478000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""									56			83		0	0	0.014410	0	0
MUC17	140453	broad.mit.edu	37	7	100676562	100676562	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:100676562C>T	uc003uxp.1	+	2	1918	c.1865C>T	c.(1864-1866)tCa>tTa	p.S622L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	622	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)					ATGCCAACCTCAACTTACAGT	0.468000														231			494		0	0	0.014410	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361118	70361118	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:70361118G>A	uc003hek.4	-	0	509	c.462C>T	c.(460-462)ttC>ttT	p.F154F	UGT2B4_uc011cap.2_Silent_p.F18F|UGT2B4_uc003hel.4_Silent_p.F154F	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	154					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CACCAAAGGGGAAAACAGCAT	0.408000														23			9		0	0	0.008291	0	0
AXDND1	126859	broad.mit.edu	37	1	179460760	179460760	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:179460760C>T	uc001gmo.3	+	18	2566	c.2179C>T	c.(2179-2181)Cta>Tta	p.L727L	AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Silent_p.L685L|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	727								p.L727L(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGACTGTCTCCTAAAGTTGGA	0.398000														101			21		0	0	0.012319	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505977	44505977	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:44505977C>T	uc002xqd.3	+	1	1025	c.780C>T	c.(778-780)acC>acT	p.T260T	ZSWIM3_uc010zxg.2_Silent_p.T254T	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	260							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				AGACAGTCACCTCTGTGGCCA	0.527000														69			19		0	0	0.014323	0	0
TAOK2	9344	broad.mit.edu	37	16	29998700	29998700	+	Missense_Mutation	SNP	G	A	A	rs146662869		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:29998700G>A	uc010bzm.2	+	14	3163	c.3128G>A	c.(3127-3129)cGa>cAa	p.R1043Q	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.R923Q|TAOK2_uc002dva.2_Missense_Mutation_p.R1036Q|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.R863Q	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	1036	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AGCTGGCGCCGAGGCCTCATG	0.657000														16			10		0	0	0.013537	0	0
NINJ1	4814	broad.mit.edu	37	9	95888815	95888815	+	Missense_Mutation	SNP	C	T	T	rs144669023		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:95888815C>T	uc004atg.4	-	1	252	c.181G>A	c.(181-183)Gcg>Acg	p.A61T		NM_004148	NP_004139	Q92982	NINJ1_HUMAN	Homo sapiens ninjurin 1 (NINJ1), mRNA.	61					cell adhesion|nervous system development|tissue regeneration	integral to membrane				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						AGCTGGGACGCGTTGGCCATC	0.637000														58			9		0	0	0.006214	0	0
SBF1	6305	broad.mit.edu	37	22	50886787	50886787	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:50886787G>A	uc003blh.3	-	37	5433	c.5238C>T	c.(5236-5238)tcC>tcT	p.S1746S	SBF1_uc003ble.3_Silent_p.S210S|SBF1_uc011arx.2_Silent_p.S1384S	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1720					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGCTCAGGGTGGAGCCCACGG	0.682000														95			3		0	0	0.009096	0	0
SLC1A3	6507	broad.mit.edu	37	5	36629592	36629592	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:36629592C>T	uc003jkj.4	+	2	698	c.222C>T	c.(220-222)agC>agT	p.S74S	SLC1A3_uc011cox.2_Intron|SLC1A3_uc010iuy.3_Silent_p.S74S	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	74					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	ACAGAATGAGCTACCGGGAAG	0.393000														51			13		0	0	0.020292	0	0
KLKB1	3818	broad.mit.edu	37	4	187175880	187175880	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:187175880C>T	uc003iyy.3	+	11	1523	c.1452C>T	c.(1450-1452)atC>atT	p.I484I	KLKB1_uc011clc.2_Silent_p.I282I|KLKB1_uc011cld.2_Silent_p.I446I	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	484	Peptidase S1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ATCATGATATCGCCTTGATAA	0.343000														33			8		0	0	0.003080	0	0
PLD2	5338	broad.mit.edu	37	17	4720460	4720460	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:4720460A>T	uc002fzc.3	+	16	1847	c.1721A>T	c.(1720-1722)aAg>aTg	p.K574M	PLD2_uc010vsj.2_Missense_Mutation_p.K431M|PLD2_uc002fzd.3_Missense_Mutation_p.K574M	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	574	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCCAAGTACAAGACTCCCACA	0.612000														247			17		0	0	0.010504	0	0
BAI3	577	broad.mit.edu	37	6	69758149	69758149	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:69758149G>A	uc010kak.3	+	12	2456	c.2180G>A	c.(2179-2181)gGa>gAa	p.G727E	BAI3_uc003pev.4_Missense_Mutation_p.G727E	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	727					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGACGGAAGGGAATGGTTGAC	0.363000														15			23		0	0	0.016522	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382030	41382030	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:41382030C>T	uc003jmm.1	-	1	812	c.710G>A	c.(709-711)aGa>aAa	p.R237K		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	237					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCCCTTCTTTCTTCTCTCAGT	0.517000														37			13		0	0	0.013537	0	0
NCOR1	9611	broad.mit.edu	37	17	16068444	16068444	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:16068444G>A	uc002gpo.3	-	4	736	c.467C>T	c.(466-468)cCa>cTa	p.P156L	NCOR1_uc002gpn.3_Missense_Mutation_p.P156L|NCOR1_uc002gpp.1_Missense_Mutation_p.P47L|NCOR1_uc002gpr.3_Missense_Mutation_p.P47L|NCOR1_uc002gps.2_Missense_Mutation_p.P156L|NCOR1_uc010cpb.2_Missense_Mutation_p.P156L|NCOR1_uc010coz.2_5'UTR|NCOR1_uc010cpa.2_Missense_Mutation_p.P156L|NCOR1_uc002gpu.3_Missense_Mutation_p.P156L	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	156	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGAGAGGATGGAGCTTCATG	0.383000														113			33		0	0	0.007835	0	0
LUC7L2	51631	broad.mit.edu	37	7	139106979	139106979	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:139106979T>G	uc011kqt.2	+	10	1504	c.1270T>G	c.(1270-1272)Tca>Gca	p.S424A	LUC7L2_uc011kqs.2_Missense_Mutation_p.S355A|LUC7L2_uc003vuy.3_Missense_Mutation_p.S357A|LUC7L2_uc003vux.3_Missense_Mutation_p.S358A|LUC7L2_uc003vva.3_Missense_Mutation_p.S305A|LOC100129148_uc022ams.1_Intron	NM_001244584	NP_001231513	Q9Y383	LC7L2_HUMAN	Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA.	358							enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					AAGAGACAGATCACCTCGTGA	0.443000														94			16		0	0	0.028581	0	0
OR2C3	81472	broad.mit.edu	37	1	247694951	247694951	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:247694951G>A	uc021pmb.1	-	0	863	c.863C>T	c.(862-864)cCa>cTa	p.P288L	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.P288L	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GTAAATAAGTGGGTTCAGCGC	0.532000														46			34		0	0	0.027894	0	0
PLA2R1	22925	broad.mit.edu	37	2	160885424	160885424	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:160885424C>T	uc002ube.2	-	4	1104	c.892G>A	c.(892-894)Gat>Aat	p.D298N	PLA2R1_uc010zcp.2_Missense_Mutation_p.D298N|PLA2R1_uc002ubf.3_Missense_Mutation_p.D298N	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	298	C-type lectin 1.				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						GCGTGTTCATCCAGCTGATTG	0.483000														33			4		0	0	0.024245	0	0
IFT88	8100	broad.mit.edu	37	13	21172798	21172798	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr13:21172798C>T	uc001unh.3	+	11	1026	c.630C>T	c.(628-630)ttC>ttT	p.F210F	IFT88_uc001uni.3_Silent_p.F201F|IFT88_uc001unj.3_Silent_p.F200F|IFT88_uc010tcq.2_Silent_p.F181F|IFT88_uc001unk.3_5'UTR	NM_175605	NP_006522	Q13099	IFT88_HUMAN	Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA.	210				F -> S (in Ref. 1; AAA86720).	cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AGGTTCTTTTCAATTTGGCCA	0.318000														63			9		0	0	0.006214	0	0
CELSR1	9620	broad.mit.edu	37	22	46794535	46794535	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:46794535C>T	uc003bhw.1	-	11	5413	c.5413_splice	c.e11-1	p.N1805_splice	CELSR1_uc011arc.1_Splice_Site_p.N126_splice	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1805	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGCCTTGTTCTGTGCGGAGA	0.592000														29			40		0	0	0.014410	0	0
SLC22A5	6584	broad.mit.edu	37	5	131719902	131719902	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:131719902G>A	uc003kwx.4	+	3	897	c.633G>A	c.(631-633)caG>caA	p.Q211Q	SLC22A5_uc003kww.4_Silent_p.Q187Q|SLC22A5_uc010jdr.1_5'Flank	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	187			Y -> C (in CDSP).		positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|PDZ domain binding|carnitine transporter activity|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GCTTCCTGCAGATCTTCTCGA	0.498000														102			49		0	0	0.014410	0	0
SVEP1	79987	broad.mit.edu	37	9	113275385	113275385	+	Splice_Site	SNP	A	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:113275385A>G	uc010mtz.3	-	5	1461	c.1124_splice	c.e5-1	p.L375_splice	SVEP1_uc010mua.1_Splice_Site_p.L375_splice|SVEP1_uc004beu.2_Splice_Site_p.L375_splice|SVEP1_uc004bev.3_Splice_Site_p.L119_splice	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	375					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCAGTGGACAACTAACATTTA	0.398000														9			18		0	0	0.007413	0	0
KCNH6	81033	broad.mit.edu	37	17	61601559	61601559	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:61601559G>A	uc002jay.3	+	1	216	c.136G>A	c.(136-138)Gac>Aac	p.D46N	KCNH6_uc002jax.1_Missense_Mutation_p.D46N|KCNH6_uc010wpl.2_5'UTR|KCNH6_uc010wpm.2_Missense_Mutation_p.D46N|KCNH6_uc002jaz.1_Missense_Mutation_p.D46N	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	46	PAS.				regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TTACTGCAACGACGGCTTCTG	0.587000														246			39		0	0	0.009718	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174550	150174550	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:150174550G>A	uc003whj.3	+	4	2010	c.1680G>A	c.(1678-1680)gcG>gcA	p.A560A		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	560						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)		CGAAATACGCGATTATGCTGT	0.473000														174			16		0	0	0.007413	0	0
LCT	3938	broad.mit.edu	37	2	136567182	136567182	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:136567182G>A	uc002tuu.1	-	7	2746	c.2735C>T	c.(2734-2736)tCc>tTc	p.S912F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	912	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCGGAAGAGGACACGCCCCA	0.517000														59			24		0	0	0.021523	0	0
ABL1	25	broad.mit.edu	37	9	133755522	133755522	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:133755522C>T	uc004bzw.3	+	8	1494	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	ABL1_uc004bzv.3_Silent_p.F516F	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	497					DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AAACAATGTTCCAGGAATCCA	0.537000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									47			36		0	0	0.027894	0	0
SQSTM1	8878	broad.mit.edu	37	5	179263543	179263543	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:179263543G>A	uc003mkw.4	+	7	1368	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	SQSTM1_uc011dgr.2_Missense_Mutation_p.G341R|SQSTM1_uc011dgs.2_Missense_Mutation_p.G341R|SQSTM1_uc003mkx.3_Missense_Mutation_p.G341R	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	425	Interaction with NTRK1 (By similarity).|UBA.		G -> R (in PDB; loss of polyubiquitin- binding).		anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	SH2 domain binding|protein kinase C binding|receptor tyrosine kinase binding|ubiquitin binding|zinc ion binding	p.I424I(1)	SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATGACATCGGAGCGGCTCT	0.577000														112			21		0	0	0.014323	0	0
LILRP2	79166	broad.mit.edu	37	19	55222251	55222251	+	RNA	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:55222251G>A	uc002qgs.1	+	0		c.2651G>A			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CTGCCCCCAGGAGAGCTCAGG	0.632000														18			5		0	0	0.014758	0	0
FER1L6	654463	broad.mit.edu	37	8	125058134	125058134	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:125058134G>A	uc003yqw.3	+	20	2922	c.2716G>A	c.(2716-2718)Gac>Aac	p.D906N		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	906	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTATGACAGCGACGCTGTGGT	0.502000														59			183		0	0	0.014410	0	0
KIAA0564	23078	broad.mit.edu	37	13	42393431	42393431	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr13:42393431C>T	uc001uyj.3	-	14	1862	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	KIAA0564_uc001uyk.3_Missense_Mutation_p.E598K	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	598						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GTTAAGAATTCTGGTCCCAGC	0.403000														29			7		0	0	0.001984	0	0
COL11A2	1302	broad.mit.edu	37	6	33148928	33148928	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:33148928C>T	uc003ocx.1	-	8	1367	c.1139G>A	c.(1138-1140)gGg>gAg	p.G380E	COL11A2_uc003ocy.1_Missense_Mutation_p.G294E|COL11A2_uc003ocz.1_Missense_Mutation_p.G273E	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	380	Nonhelical region.				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						TCCCTTCAGCCCTCGGGGTCC	0.577000														71			12		0	0	0.006122	0	0
EGFLAM	133584	broad.mit.edu	37	5	38458457	38458457	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:38458457C>T	uc003jlc.2	+	20	3102	c.2756C>T	c.(2755-2757)tCc>tTc	p.S919F	EGFLAM_uc003jlb.2_Missense_Mutation_p.S911F|EGFLAM_uc003jle.2_Missense_Mutation_p.S677F|EGFLAM_uc003jlf.2_Missense_Mutation_p.S277F|EGFLAM_uc003jlg.2_Missense_Mutation_p.S54F	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	919	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse		p.R919R(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GTGAATGGCTCCTTCAACGAT	0.537000														60			21		0	0	0.014323	0	0
THADA	63892	broad.mit.edu	37	2	43779019	43779019	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:43779019G>A	uc002rsw.4	-	18	3208	c.2856C>T	c.(2854-2856)ctC>ctT	p.L952L	THADA_uc010far.3_Silent_p.L221L|THADA_uc002rsx.4_Silent_p.L952L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Silent_p.L661L|THADA_uc010fat.1_Silent_p.L99L|THADA_uc002rta.2_Silent_p.L662L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	952							binding	p.L952F(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACATCAAAAGGAGCTTCTCTA	0.453000														37			26		0	0	0.007291	0	0
NCOA1	8648	broad.mit.edu	37	2	24974859	24974859	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:24974859C>T	uc002rfk.3	+	17	3974	c.3715C>T	c.(3715-3717)Ccc>Tcc	p.P1239S	NCOA1_uc010eye.3_Missense_Mutation_p.P1239S|NCOA1_uc002rfi.3_Missense_Mutation_p.P1088S|NCOA1_uc002rfj.3_Missense_Mutation_p.P1239S|NCOA1_uc002rfl.3_Missense_Mutation_p.P1239S|NCOA1_uc010eyf.3_Missense_Mutation_p.P132S	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1239									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAATGGTTCCCCAAGGTGA	0.418000			T	PAX3	alveolar rhadomyosarcoma									58			39		0	0	0.014410	0	0
SMC1B	27127	broad.mit.edu	37	22	45765886	45765886	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:45765886G>A	uc003bgc.3	-	14	2420	c.2368C>T	c.(2368-2370)Cgt>Tgt	p.R790C	SMC1B_uc003bgd.3_Missense_Mutation_p.R790C|SMC1B_uc003bge.1_Missense_Mutation_p.R573C	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	790					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)		TCAAATTCACGAATATTTTCC	0.264000														23			16		0	0	0.010504	0	0
SATB2	23314	broad.mit.edu	37	2	200213782	200213782	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:200213782G>A	uc002uuy.2	-	6	1632	c.815C>T	c.(814-816)cCt>cTt	p.P272L	SATB2_uc010fsq.2_Missense_Mutation_p.P154L|SATB2_uc002uva.2_Missense_Mutation_p.P272L|SATB2_uc002uuz.2_Missense_Mutation_p.P272L|SATB2_uc002uvb.1_Missense_Mutation_p.P15L	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	272						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGGCTGTGAGGAGACTGTTC	0.498000														71			27		0	0	0.007291	0	0
LRTM2	654429	broad.mit.edu	37	12	1943759	1943759	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:1943759G>A	uc001qjt.2	+	4	1791	c.985G>A	c.(985-987)Gct>Act	p.A329T	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.A329T|LRTM2_uc010sdx.1_Missense_Mutation_p.A329T|LRTM2_uc001qjv.2_Missense_Mutation_p.A91T	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	329						integral to membrane		p.A329T(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGTGGTGGCCGCTGCCTATGG	0.662000														62			3		0	0	0.009096	0	0
KIF18B	146909	broad.mit.edu	37	17	43005640	43005640	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:43005640C>G	uc010wji.2	-	12	2140	c.2039G>C	c.(2038-2040)gGa>gCa	p.G680A	KIF18B_uc002iht.3_Missense_Mutation_p.G689A|KIF18B_uc010wjh.2_Missense_Mutation_p.G677A	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGCCCTTTCTCCTTTGGGGGT	0.657000														8			11		0	0	0.020292	0	0
MYPOP	339344	broad.mit.edu	37	19	46393885	46393885	+	Missense_Mutation	SNP	G	A	A	rs147675790	by1000genomes	TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:46393885G>A	uc002pdt.3	-	2	1283	c.1196C>T	c.(1195-1197)cCg>cTg	p.P399L		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Homo sapiens Myb-related transcription factor, partner of profilin (MYPOP), mRNA.	399						nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						TAGATTTCACGGAGATTTCCA	0.642000														69			11		0	0	0.020292	0	0
GALNT14	79623	broad.mit.edu	37	2	31167740	31167740	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:31167740G>A	uc002rns.3	-	8	1466	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S	GALNT14_uc002rnq.3_Missense_Mutation_p.P251S|GALNT14_uc010ymr.2_Missense_Mutation_p.P236S|GALNT14_uc002rnr.3_Missense_Mutation_p.P271S|GALNT14_uc010ezo.2_Missense_Mutation_p.P238S|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	271	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGCTCCGTGGGGTCCAGGCGC	0.587000														50			29		0	0	0.015359	0	0
HOXC11	3227	broad.mit.edu	37	12	54367468	54367468	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:54367468C>T	uc001sem.3	+	0	559	c.443C>T	c.(442-444)cCt>cTt	p.P148L		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	148					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						AGCGTCCTGCCTCAAGCCTTC	0.682000			T	NUP98	AML									96			41		0	0	0.010771	0	0
ZNF434	54925	broad.mit.edu	37	16	3433301	3433301	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:3433301G>A	uc002cux.4	-	6	1901	c.1642C>T	c.(1642-1644)Cac>Tac	p.H548Y	ZNF434_uc010uwx.2_Missense_Mutation_p.H260Y|ZNF434_uc002cuy.4_Missense_Mutation_p.H260Y|ZNF434_uc002cuz.3_Missense_Mutation_p.H337Y	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	Homo sapiens zinc finger protein 434 (ZNF434), mRNA.	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGCACTTGTGAGGCTTCTCG	0.507000														32			6		0	0	0.021553	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37962739	37962739	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:37962739C>T	uc003asz.4	+	1	786	c.383C>T	c.(382-384)gCc>gTc	p.A128V		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	128					positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CTCAACCAGGCCGCCTACGAC	0.677000														109			91		0	0	0.014410	0	0
IQCK	124152	broad.mit.edu	37	16	19838399	19838399	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:19838399C>T	uc002dgr.3	+	8	1441	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	IQCK_uc002dgs.3_Non-coding_Transcript|IQCK_uc010vat.2_Silent_p.F219F|IQCK_uc010bwc.3_Non-coding_Transcript|IQCK_uc010vau.2_Missense_Mutation_p.R160C	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN	Homo sapiens IQ motif containing K (IQCK), mRNA.	248										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						GAAGAAACTTCGCGAGGCCAA	0.438000														69			33		0	0	0.007835	0	0
SVIL	6840	broad.mit.edu	37	10	29813449	29813449	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:29813449C>T	uc001iut.1	-	13	3291	c.2538G>A	c.(2536-2538)atG>atA	p.M846I	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.M420I	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	846					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGCGAGCGTTCATTCTCCTCT	0.468000														48			41		0	0	0.027894	0	0
KRT9	3857	broad.mit.edu	37	17	39725840	39725840	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:39725840C>T	uc002hxe.4	-	4	949	c.883_splice	c.e4-1	p.E295_splice	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	295	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				GACTCATCTCCTGCCAGGGAA	0.527000														32			51		0	0	0.014410	0	0
RBM25	58517	broad.mit.edu	37	14	73538452	73538452	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:73538452C>T	uc010ttu.2	+	2	379	c.103C>T	c.(103-105)Cca>Tca	p.P35S	RBM25_uc001xnn.4_Missense_Mutation_p.P35S|RBM25_uc001xno.3_Missense_Mutation_p.P35S|RBM25_uc001xnp.3_5'UTR	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	35					RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ACCTGTACCTCCAGGTAAGTT	0.448000														22			19		0	0	0.010504	0	0
CECR2	27443	broad.mit.edu	37	22	18028654	18028654	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:18028654C>A	uc010gqw.1	+	15	3605	c.3605C>A	c.(3604-3606)cCa>cAa	p.P1202Q	CECR2_uc010gqv.1_Missense_Mutation_p.P1062Q|CECR2_uc002zml.2_Missense_Mutation_p.P1063Q|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1246					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGCGGACCCCCAGCCAGTCAG	0.557000														73			11		0.000978159	0.0010012	0.010729	1	0
TMED9	54732	broad.mit.edu	37	5	177022373	177022373	+	Missense_Mutation	SNP	A	G	G	rs11545862		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:177022373A>G	uc003mhx.3	+	4	667	c.664A>G	c.(664-666)Atg>Gtg	p.M222V		NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 9 (TMED9), mRNA.	222					transport	ER-Golgi intermediate compartment|endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			TGTCTGGCAGATGCGGCACCT	0.602000														67			18		0	0	0.016522	0	0
OR5D14	219436	broad.mit.edu	37	11	55563665	55563665	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:55563665A>G	uc010rim.2	+	0	634	c.634A>G	c.(634-636)Aca>Gca	p.T212A		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T212P(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGAGATGTGTACACTACTGAT	0.463000														113			16		0	0	0.028581	0	0
CCDC54	84692	broad.mit.edu	37	3	107096864	107096864	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:107096864G>A	uc003dwi.1	+	0	677	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	144										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GACAGAACTGGAAATTCAGAA	0.388000														32			23		0	0	0.014323	0	0
PLB1	151056	broad.mit.edu	37	2	28805000	28805000	+	Splice_Site	SNP	G	A	A	rs146417418		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:28805000G>A	uc002rmb.2	+	24	1676	c.1632_splice	c.e24+1	p.E544_splice	PLB1_uc010ezj.2_Intron|PLB1_uc002rmc.3_Splice_Site_p.E232_splice|PLB1_uc002rmd.1_Splice_Site_p.E54_splice	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	544	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCCATGCTGAGGTACGGAGGC	0.537000														34			24		0	0	0.027356	0	0
ZBED1	9189	broad.mit.edu	37	X	2408251	2408252	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:2408251_2408252GG>AT	uc022brx.1	-	0	509_510	c.509_510CC>AT	c.(508-510)acc>aAT	p.T170N	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.T170N|ZBED1_uc004cqg.2_Missense_Mutation_p.T170N|ZBED1_uc022brw.1_Missense_Mutation_p.T170N	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	170						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGATGGCCTTGGTAGAGATGTA	0.639000														166			24		0	0	0.004672	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450038	105450038	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:105450038G>A	uc022cca.1	+	0	613	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	MUM1L1_uc004emg.2_Missense_Mutation_p.E205K|MUM1L1_uc004emf.2_Missense_Mutation_p.E205K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	205										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGATAATGATGAAAAAGAGAA	0.388000														2			4		0	0	0.009096	0	0
NAB2	4665	broad.mit.edu	37	12	57485018	57485018	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:57485018G>A	uc001smz.3	+	1	572	c.194G>A	c.(193-195)gGa>gAa	p.G65E		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	65	NCD1.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ATCCAGCAGGGAGGGGACGAC	0.642000														86			53		0	0	0.014410	0	0
WAS	7454	broad.mit.edu	37	X	48542297	48542297	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:48542297C>T	uc004dkm.4	+	0	112	c.55C>T	c.(55-57)Cag>Tag	p.Q19*		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	19					T cell receptor signaling pathway|blood coagulation|defense response|epidermis development|immune response	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				ACCAGCGGTTCAGCAGAACAT	0.622000			"""Mis, N, F, S"""			lymphoma								27			30		0	0	0.009535	0	0
ARAP2	116984	broad.mit.edu	37	4	36069567	36069567	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:36069567G>A	uc003gsq.2	-	32	5415	c.5077C>T	c.(5077-5079)Ctt>Ttt	p.L1693F	ARAP2_uc003gso.3_Intron	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1693					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCTTTTGGAAGGGTTCTTGAC	0.348000														49			14		0	0	0.028581	0	0
OR7E24	26648	broad.mit.edu	37	19	9361872	9361872	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:9361872C>T	uc002mlb.1	+	0	153	c.153C>T	c.(151-153)tcC>tcT	p.S51S		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S51*(2)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGTTCCTGTCCATGTACCTGG	0.572000														79			47		0	0	0.014410	0	0
EPDR1	54749	broad.mit.edu	37	7	37988585	37988586	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:37988585_37988586CC>TT	uc003tfp.3	+	1	792_793	c.773_774CC>TT	c.(772-774)tcc>tTT	p.S258F	EPDR1_uc003tfq.3_Intron|EPDR1_uc010kxh.3_Missense_Mutation_p.S77F	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	Homo sapiens ependymin related protein 1 (zebrafish) (EPDR1), transcript variant 1, mRNA.	138					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GACCAGTACTCCATCGGGGGGC	0.510000														58			18		0	0	0.004672	0	0
PRODH2	58510	broad.mit.edu	37	19	36303154	36303154	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:36303154T>C	uc002obx.1	-	3	638	c.620A>G	c.(619-621)aAc>aGc	p.N207S		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	207					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	p.N207K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCACCGAGGTTCCCCTCATA	0.687000														43			40		0	0	0.013114	0	0
KIAA1456	57604	broad.mit.edu	37	8	12870199	12870199	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:12870199G>A	uc010lsq.3	+	3	653	c.161G>A	c.(160-162)gGg>gAg	p.G54E	KIAA1456_uc011kxw.2_Missense_Mutation_p.G54E|KIAA1456_uc003wwj.4_5'UTR|KIAA1456_uc010lsr.3_5'UTR	NM_020844	NP_001093147	Q9P272	K1456_HUMAN	Homo sapiens KIAA1456 (KIAA1456), transcript variant 1, mRNA.	54							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						ATAGGTTGTGGGACTGGAAAA	0.403000														99			16		0	0	0.006122	0	0
PRR23B	389151	broad.mit.edu	37	3	138739067	138739067	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:138739067G>A	uc003esy.1	-	0	702	c.437C>T	c.(436-438)cCa>cTa	p.P146L		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	146										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCGATCTCTGGGACAGATGC	0.667000														55			15		0	0	0.004990	0	0
RAD54L2	23132	broad.mit.edu	37	3	51697054	51697054	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:51697054C>T	uc011bdt.2	+	21	4147	c.4022C>T	c.(4021-4023)cCa>cTa	p.P1341L	RAD54L2_uc003dbh.3_Missense_Mutation_p.P930L|RAD54L2_uc011bdu.2_Missense_Mutation_p.P1035L|RAD54L2_uc003dbj.3_Missense_Mutation_p.P667L	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1341						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CTGGTGTTTCCAGTGACTACT	0.592000														90			35		0	0	0.021022	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724488	7724488	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:7724488C>T	uc001aoi.3	+	8	2088	c.1881C>T	c.(1879-1881)gtC>gtT	p.V627V		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCCTCCCCGTCGAGCAGAACA	0.647000			T	WWTR1	epitheliod hemangioendothelioma									206			56		0	0	0.014410	0	0
AP5Z1	9907	broad.mit.edu	37	7	4820877	4820877	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:4820877G>A	uc003sne.3	+	1	198	c.113G>A	c.(112-114)gGg>gAg	p.G38E	AP5Z1_uc010ksp.3_Non-coding_Transcript	NM_014855	NP_055670	O43299	K0415_HUMAN	Homo sapiens KIAA0415 (KIAA0415), mRNA.	38					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										GAGGACTTGGGGCCGGACACC	0.592000														55			3		0	0	0.009096	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202520	140202520	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:140202520C>T	uc003lhl.2	+	0	1160	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	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.S387F|PCDHAC2_uc003lhj.1_Missense_Mutation_p.S387F	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	403	Cadherin 4.				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)			GTGACCTGCTCCCTAATGCCC	0.577000														76			51		0	0	0.014410	0	0
SCN10A	6336	broad.mit.edu	37	3	38739432	38739432	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:38739432G>A	uc003ciq.3	-	26	5279	c.5279C>T	c.(5278-5280)aCc>aTc	p.T1760I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1760					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCAGAAAAGGTAATAAACTG	0.512000														58			17		0	0	0.014323	0	0
NFX1	4799	broad.mit.edu	37	9	33354888	33354888	+	Silent	SNP	A	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:33354888A>G	uc003zsr.3	+	18	3027	c.2874A>G	c.(2872-2874)aaA>aaG	p.K958K	NFX1_uc003zsp.2_Silent_p.K957K|NFX1_uc010mjr.2_Silent_p.K958K|NFX1_uc003zsq.3_Silent_p.K957K	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	957					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGGAAaggaaaaagtaagtag	0.433000														17			18		0	0	0.014323	0	0
FBXO18	84893	broad.mit.edu	37	10	5969458	5969458	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:5969458G>A	uc001iit.3	+	19	3040	c.2936G>A	c.(2935-2937)cGt>cAt	p.R979H	FBXO18_uc001iir.3_Missense_Mutation_p.R871H|FBXO18_uc001iis.3_Missense_Mutation_p.R928H|FBXO18_uc009xig.3_Missense_Mutation_p.R854H	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	928					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCCAAGAAGCGTCTCATCATG	0.388000														69			35		0	0	0.014410	0	0
MSL2	55167	broad.mit.edu	37	3	135871300	135871300	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:135871300C>T	uc003eqx.1	-	1	1156	c.423G>A	c.(421-423)gaG>gaA	p.E141E	MSL2_uc011bmb.1_Silent_p.E67E|MSL2_uc021xel.1_Silent_p.E67E	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN	Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.	141					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TTTCTGTCTCCTCACAAAACA	0.388000														54			31		0	0	0.012213	0	0
C3orf20	84077	broad.mit.edu	37	3	14802992	14802992	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:14802992G>A	uc003byy.3	+	14	2817	c.2365G>A	c.(2365-2367)Ggg>Agg	p.G789R	C3orf20_uc003byz.3_Missense_Mutation_p.G667R|C3orf20_uc003bza.3_Missense_Mutation_p.G667R|C3orf20_uc003bzb.1_Missense_Mutation_p.G290R|C3orf20_uc011avj.2_Missense_Mutation_p.G116R	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	789						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GTTTGCCGGGGGGAAGCTCAT	0.483000														44			7		0	0	0.004482	0	0
TBX3	6926	broad.mit.edu	37	12	115120881	115120881	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:115120881G>T	uc001tvt.1	-	0	1089	c.125C>A	c.(124-126)cCc>cAc	p.P42H	TBX3_uc001tvu.1_Missense_Mutation_p.P42H|TBX3_uc010syw.1_Missense_Mutation_p.P42H	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	42					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CGTCAGCGCGGGGAAGAACGG	0.701000														28			6		9.70103e-10	1.01247e-09	0.008291	1	0
ASPH	444	broad.mit.edu	37	8	62416020	62416020	+	Silent	SNP	G	A	A	rs112982646		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:62416020G>A	uc003xuj.3	-	24	2444	c.2175C>T	c.(2173-2175)caC>caT	p.H725H	ASPH_uc011leg.2_Silent_p.H696H	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	725					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GCCATACCTCGTGCTCAAAGG	0.498000														48			4		0	0	0.014758	0	0
RGPD4	285190	broad.mit.edu	37	2	108487597	108487597	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:108487597A>C	uc010ywk.2	+	19	3219	c.3137A>C	c.(3136-3138)gAa>gCa	p.E1046A	RGPD4_uc002tdu.3_Missense_Mutation_p.E233A|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1046	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAAATGCCTGAAAAAGTAGAA	0.383000														341			133		0	0	0.014410	0	0
HOOK1	51361	broad.mit.edu	37	1	60331594	60331594	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:60331594A>G	uc009wad.3	+	19	1897	c.1795A>G	c.(1795-1797)Atg>Gtg	p.M599V	HOOK1_uc001czo.3_Missense_Mutation_p.M599V|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.M557V	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	599					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AGATGAAGATATGAAAGCAAT	0.333000														59			5		0	0	0.021553	0	0
HNRNPM	4670	broad.mit.edu	37	19	8539077	8539077	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:8539077A>T	uc010dwe.3	+	11	1149	c.1069A>T	c.(1069-1071)Atg>Ttg	p.M357L	HNRNPM_uc010dwc.1_Missense_Mutation_p.M342L|HNRNPM_uc010xke.1_Missense_Mutation_p.M303L|HNRNPM_uc010dwd.3_Missense_Mutation_p.M318L|HNRNPM_uc002mka.3_Missense_Mutation_p.M222L	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	357					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGGTGGTGGTATGGAAAACAT	0.463000														159			47		0	0	0.014410	0	0
OR10X1	128367	broad.mit.edu	37	1	158549333	158549333	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:158549333G>A	uc010pin.2	-	0	357	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GTCCCAAGAAGAAGCACATCT	0.473000														58			13		0	0	0.020292	0	0
ZNF689	115509	broad.mit.edu	37	16	30616403	30616403	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:30616403C>T	uc002dyx.3	-	2	1005	c.685G>A	c.(685-687)Ggg>Agg	p.G229R	ZNF689_uc010bzy.3_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	Homo sapiens zinc finger protein 689 (ZNF689), mRNA.	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GGCTTCTCCCCTGTATGGATG	0.607000														60			28		0	0	0.007291	0	0
C1R	715	broad.mit.edu	37	12	7188537	7188537	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:7188537C>T	uc010sfy.2	-	8	1242	c.1183G>A	c.(1183-1185)Ggc>Agc	p.G395S		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	473	Sushi 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	GGGAAGTTGCCCATCTTGGCT	0.637000														17			3		0	0	0.009096	0	0
AOAH	313	broad.mit.edu	37	7	36561714	36561714	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:36561714C>T	uc022abu.1	-	19	1931	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q	AOAH_uc003tfh.4_Silent_p.Q510Q|AOAH_uc011kba.2_Silent_p.Q478Q	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	510					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TCTGCCACTCCTGTATGACTG	0.572000														43			9		0	0	0.013537	0	0
BC133032	0	broad.mit.edu	37	1	237167613	237167613	+	RNA	SNP	C	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:237167613C>G	uc001hyk.1	-	0		c.106G>C								Homo sapiens metallothionein 1H-like protein mRNA, complete cds.																		ACTTTTTGCACTTGCAGGAGC	0.627000														51			10		0	0	0.020292	0	0
COMT	1312	broad.mit.edu	37	22	19950226	19950226	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:19950226C>T	uc002zqu.3	+	2	426	c.177C>T	c.(175-177)atC>atT	p.I59I	COMT_uc011ahd.2_Silent_p.I59I|COMT_uc002zqx.3_Silent_p.I9I|COMT_uc021wlk.1_Splice_Site|COMT_uc021wll.1_Silent_p.I59I|COMT_uc021wlm.1_Silent_p.I59I|MIR4761_uc021wln.1_5'Flank	NM_000754	NP_009294	P21964	COMT_HUMAN	Homo sapiens catechol-O-methyltransferase (COMT), transcript variant 1, mRNA.	59					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding	p.R58C(1)|p.R58G(1)		kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	AGCAGCGCATCCTGAACCACG	0.622000														17			22		0	0	0.021523	0	0
PRRG4	79056	broad.mit.edu	37	11	32860464	32860465	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:32860464_32860465AC>TT	uc001mtx.3	+	3	565_566	c.304_305AC>TT	c.(304-306)acc>TTc	p.T102F		NM_024081	NP_076986	Q9BZD6	TMG4_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) (PRRG4), mRNA.	102						Golgi apparatus|extracellular region|integral to membrane	calcium ion binding			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					TAAAGGACCAACCACAAAATCA	0.297000														30			4		0	0	0.004672	0	0
STAT5A	6776	broad.mit.edu	37	17	40453367	40453367	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:40453367T>C	uc002hzj.2	+	9	1706	c.1064T>C	c.(1063-1065)cTg>cCg	p.L355P	STAT5A_uc010cya.2_Missense_Mutation_p.L355P|STAT5A_uc010cyb.2_Missense_Mutation_p.L355P|STAT5A_uc010cyc.2_Missense_Mutation_p.L325P	NM_003152	NP_003143	P42229	STA5A_HUMAN	Homo sapiens signal transducer and activator of transcription 5A (STAT5A), mRNA.	355					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GTACGCCTGCTGGTGGGCGGG	0.557000														62			63		0	0	0.014410	0	0
C12orf63	374467	broad.mit.edu	37	12	97133780	97133780	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:97133780C>T	uc021rcc.1	+	17	2365	c.2287C>T	c.(2287-2289)Ctt>Ttt	p.L763F				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	763										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GGATTCAAAACTTTTTGAAAA	0.313000														51			4		0	0	0.014758	0	0
TESPA1	9840	broad.mit.edu	37	12	55356925	55356925	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:55356925G>A	uc010spd.1	-	8	890	c.757C>T	c.(757-759)Cac>Tac	p.H253Y	TESPA1_uc001sgl.3_Missense_Mutation_p.H115Y|TESPA1_uc001sgm.3_5'UTR|TESPA1_uc010spb.1_5'UTR|TESPA1_uc010spc.1_Missense_Mutation_p.H115Y|TESPA1_uc001sgn.3_Missense_Mutation_p.H253Y	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	253																	CAGAACATGTGGGATGGTGTG	0.512000														31			3		0	0	0.009096	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809066	18809066	+	Silent	SNP	C	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:18809066C>A	uc001bax.3	+	0	1643	c.1591C>A	c.(1591-1593)Cgg>Agg	p.R531R	KLHDC7A_uc009vpg.3_Silent_p.R313R	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	531						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCGTGTCCCGGGGCTGTGC	0.657000														60			17		1.56452e-12	1.64361e-12	0.007413	1	0
TRPV5	56302	broad.mit.edu	37	7	142609657	142609657	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:142609657C>T	uc003wby.1	-	12	2043	c.1779G>A	c.(1777-1779)tgG>tgA	p.W593*		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	593					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCTGGGCCCTCCAGAGCTCAT	0.498000														118			13		0	0	0.024245	0	0
DMGDH	29958	broad.mit.edu	37	5	78359496	78359496	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:78359496C>T	uc003kfs.3	-	1	222	c.216G>A	c.(214-216)ggG>ggA	p.G72G	DMGDH_uc011ctf.1_Missense_Mutation_p.D28N|DMGDH_uc011ctg.1_5'UTR	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	72					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CATCTTTCATCCCTGCTTTGG	0.488000														76			18		0	0	0.008871	0	0
TCRA	0	broad.mit.edu	37	14	22465947	22465947	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:22465947C>T	uc001wcp.2	+	0	52	c.23C>T	c.(22-24)tCt>tTt	p.S8F	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Missense_Mutation_p.S8F|TCRA_uc001wcr.1_5'Flank|TCRA_uc001wcs.1_5'Flank|TCRA_uc010ajf.1_5'Flank|TCRA_uc010tmm.2_Intron|TCRA_uc001wcq.3_Missense_Mutation_p.S8F|TCRA_uc010ajd.1_Missense_Mutation_p.S8F					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		CTGGGAGTGTCTTTGGTGATT	0.473000														20			9		0	0	0.013537	0	0
KIAA1217	56243	broad.mit.edu	37	10	24820871	24820871	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:24820871G>A	uc001iru.4	+	14	3598	c.3195G>A	c.(3193-3195)acG>acA	p.T1065T	KIAA1217_uc001irs.3_Silent_p.T985T|KIAA1217_uc001irt.4_Silent_p.T1030T|KIAA1217_uc010qcy.2_Silent_p.T1029T|KIAA1217_uc010qcz.2_Silent_p.T1030T|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.T748T|KIAA1217_uc001irz.3_Silent_p.T748T|KIAA1217_uc001irx.3_Silent_p.T748T|KIAA1217_uc001iry.3_Silent_p.T748T	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1065					embryonic skeletal system development	cytoplasm				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						TCACCACCACGAGGTCAGGCG	0.577000														24			37		0	0	0.025465	0	0
TRPM7	54822	broad.mit.edu	37	15	50884667	50884667	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:50884667C>T	uc001zyt.4	-	25	4047	c.3765G>A	c.(3763-3765)tcG>tcA	p.S1255S	TRPM7_uc010bew.2_Silent_p.S1255S	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	1255					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TGCTAGCTTCCGACGCTTTCT	0.393000														133			19		0	0	0.016522	0	0
MACROD2	140733	broad.mit.edu	37	20	15210650	15210650	+	Silent	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:15210650T>C	uc002wou.3	+	5	747	c.483T>C	c.(481-483)ctT>ctC	p.L161L	MACROD2_uc002wot.3_Silent_p.L161L|MACROD2_uc002woz.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	161	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGGAAGACCTTGCAAATTGCT	0.368000														34			12		0	0	0.024245	0	0
SYTL2	54843	broad.mit.edu	37	11	85445276	85445276	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:85445276T>C	uc010rth.2	-	5	1482	c.1093A>G	c.(1093-1095)Aaa>Gaa	p.K365E	SYTL2_uc010rtg.2_Missense_Mutation_p.K366E|SYTL2_uc010rti.2_Missense_Mutation_p.K365E|SYTL2_uc010rtj.2_Missense_Mutation_p.K317E|SYTL2_uc001pbf.4_Missense_Mutation_p.K365E|SYTL2_uc010rtf.2_Missense_Mutation_p.K223E	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	365					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATTCCATTTTTCAATCTGTCA	0.438000														78			12		0	0	0.020292	0	0
SLC22A2	6582	broad.mit.edu	37	6	160671634	160671634	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:160671634G>A	uc003qtf.3	-	2	793	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	SLC22A2_uc003qth.2_Missense_Mutation_p.R207C	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	207					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TGGATTAAGCGAAAAATTAAC	0.463000														49			31		0	0	0.025465	0	0
ACSM1	116285	broad.mit.edu	37	16	20681297	20681297	+	Missense_Mutation	SNP	C	T	T	rs138822345		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:20681297C>T	uc002dhm.1	-	4	832	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.R255Q	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	255					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTTCAGGCTCCGTAATTTCCT	0.512000														23			10		0	0	0.010729	0	0
DNAJA2	10294	broad.mit.edu	37	16	46993207	46993207	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:46993207G>A	uc002eeo.2	-	6	1041	c.899C>T	c.(898-900)cCt>cTt	p.P300L		NM_005880	NP_005871	O60884	DNJA2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 2 (DNAJA2), mRNA.	300					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	p.P299T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TACTTTGCCAGGGGGGTATTT	0.333000														32			30		0	0	0.015359	0	0
ASH1L	55870	broad.mit.edu	37	1	155316192	155316192	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:155316192G>A	uc009wqq.3	-	20	8367	c.7887C>T	c.(7885-7887)gaC>gaT	p.D2629D	ASH1L_uc001fkt.3_Silent_p.D2624D|ASH1L_uc021pay.1_Non-coding_Transcript	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2629					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAGGCCTTGGGTCACACTGCT	0.478000														183			35		0	0	0.027894	0	0
CDH18	1016	broad.mit.edu	37	5	19721488	19721488	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:19721488C>T	uc003jgd.3	-	4	1145	c.611G>A	c.(610-612)gGa>gAa	p.G204E	CDH18_uc011cnm.2_Missense_Mutation_p.G204E|CDH18_uc003jgc.3_Missense_Mutation_p.G204E|CDH18_uc021xwu.1_Missense_Mutation_p.G204E	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	204	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTAGGGTTGTCCTTGGAGAAT	0.468000														60			36		0	0	0.027894	0	0
IL1RN	3557	broad.mit.edu	37	2	113890416	113890416	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:113890416G>A	uc002tjb.3	+	3	566	c.502G>A	c.(502-504)Gtc>Atc	p.V168I	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Missense_Mutation_p.V171I|IL1RN_uc002tiy.3_Missense_Mutation_p.V134I|IL1RN_uc002tja.3_Missense_Mutation_p.V150I	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	168					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	AGGCGTCATGGTCACCAAATT	0.592000									Lichen Sclerosis et Atrophicus, Familial Clustering of					97			35		0	0	0.007835	0	0
NIPBL	25836	broad.mit.edu	37	5	37007540	37007540	+	Silent	SNP	A	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:37007540A>T	uc003jkl.4	+	17	4702	c.4203A>T	c.(4201-4203)ctA>ctT	p.L1401L	NIPBL_uc003jkk.4_Silent_p.L1401L	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1401					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGAATTGCTAGAGATACAAC	0.313000														12			5		0	0	0.021553	0	0
OR52R1	119695	broad.mit.edu	37	11	4825016	4825016	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:4825016G>A	uc021qcs.1	-	0	595	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATTCCCACGACTTATGCTT	0.493000														73			14		0	0	0.016723	0	0
DNAH8	1769	broad.mit.edu	37	6	38747801	38747801	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:38747801T>A	uc021yzh.1	+	14	2208	c.2099T>A	c.(2098-2100)aTt>aAt	p.I700N	DNAH8_uc003ooe.2_Missense_Mutation_p.I483N	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATAGAGCGTATTCTTCAGTAC	0.328000														25			20		0	0	0.007291	0	0
PCLO	27445	broad.mit.edu	37	7	82582033	82582033	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:82582033C>T	uc003uhx.2	-	4	8525	c.8236G>A	c.(8236-8238)Gat>Aat	p.D2746N	PCLO_uc003uhv.2_Missense_Mutation_p.D2746N|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2677					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCAGAAAGATCAATACATTTA	0.348000														9			24		0	0	0.021523	0	0
ZXDC	79364	broad.mit.edu	37	3	126191117	126191117	+	Silent	SNP	G	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:126191117G>C	uc003eiv.3	-	1	993	c.939C>G	c.(937-939)gcC>gcG	p.A313A	ZXDC_uc010hsh.3_Non-coding_Transcript|ZXDC_uc003eix.2_Silent_p.A313A	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	313					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GGGAAAACAGGGCACTCACTG	0.458000														77			21		0	0	0.021523	0	0
TMEM185A	84548	broad.mit.edu	37	X	148690451	148690451	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:148690451T>C	uc022cgl.1	-	2	510	c.286A>G	c.(286-288)Atg>Gtg	p.M96V	TMEM185A_uc011mxp.2_Missense_Mutation_p.M37V|TMEM185A_uc004fdo.3_Intron|TMEM185A_uc004fdp.4_Missense_Mutation_p.M13V	NM_032508	NP_115897	Q8NFB2	T185A_HUMAN	Homo sapiens transmembrane protein 185A (TMEM185A), transcript variant 1, mRNA.	96						integral to membrane				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACTTCAAACATCAACAAGAGC	0.478000														38			81		0	0	0.014410	0	0
SYMPK	8189	broad.mit.edu	37	19	46355791	46355791	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:46355791G>A	uc002pdn.3	-	3	419	c.174C>T	c.(172-174)gtC>gtT	p.V58V	SYMPK_uc002pdo.1_Silent_p.V58V|SYMPK_uc002pdp.1_Silent_p.V58V|SYMPK_uc002pdq.2_Silent_p.V58V	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	58	Interaction with HSF1.				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCAGCTCCTGGACCTGGAAGG	0.527000														80			10		0	0	0.013537	0	0
DNAH8	1769	broad.mit.edu	37	6	38840746	38840746	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:38840746C>T	uc021yzh.1	+	50	7411	c.7302C>T	c.(7300-7302)tcC>tcT	p.S2434S	DNAH8_uc003ooe.2_Silent_p.S2217S	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTTAAATTCCGTTTTGGATG	0.378000														25			18		0	0	0.012319	0	0
RTKN2	219790	broad.mit.edu	37	10	64022432	64022432	+	Missense_Mutation	SNP	G	A	A	rs138538612		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:64022432G>A	uc001jlw.3	-	1	306	c.209C>T	c.(208-210)tCg>tTg	p.S70L	ZNF365_uc001jly.4_Intron|RTKN2_uc001jlx.2_Missense_Mutation_p.S70L	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	70					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CTGTAGCTCCGATGTATAGGC	0.363000														44			37		0	0	0.008740	0	0
PALM	5064	broad.mit.edu	37	19	746736	746736	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:746736G>A	uc002lpm.1	+	8	1280	c.1086G>A	c.(1084-1086)gcG>gcA	p.A362A	PALM_uc002lpn.1_Silent_p.A318A|PALM_uc010xfu.1_Silent_p.A227A	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	362					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)		AGAATCAGGCGGGGCCCGAGG	0.672000														5			4		0	0	0.021553	0	0
EPS15L1	58513	broad.mit.edu	37	19	16513163	16513163	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:16513163G>A	uc002ndx.3	-	15	1766	c.1760C>T	c.(1759-1761)tCc>tTc	p.S587F	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.S477F|EPS15L1_uc002ndz.1_Missense_Mutation_p.S587F|EPS15L1_uc010xpf.1_Missense_Mutation_p.S490F|EPS15L1_uc002nea.1_Missense_Mutation_p.S587F|EPS15L1_uc010eah.1_Missense_Mutation_p.S587F|EPS15L1_uc002neb.1_Missense_Mutation_p.S433F|EPS15L1_uc002nec.1_Missense_Mutation_p.S587F	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	587					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTCTGCCAGGGAGACGCCTTC	0.597000														104			19		0	0	0.018920	0	0
FOXA2	3170	broad.mit.edu	37	20	22563676	22563676	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:22563676G>A	uc002wsm.3	-	1	389	c.204C>T	c.(202-204)tcC>tcT	p.S68S	FOXA2_uc002wsn.3_Silent_p.S62S	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	62	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					ACATGTTCATGGAGCCCGCGC	0.706000														77			23		0	0	0.021523	0	0
RPTOR	57521	broad.mit.edu	37	17	78796099	78796099	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:78796099G>A	uc002jyt.1	+	7	1794	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	RPTOR_uc002jys.3_Missense_Mutation_p.R330Q|RPTOR_uc010wuf.1_Missense_Mutation_p.R145Q|RPTOR_uc010wug.1_Missense_Mutation_p.R330Q	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	330					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding	p.R330Q(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GTGCTCCCCCGGGGTGAGGCG	0.647000														166			34		0	0	0.019004	0	0
CHPF2	54480	broad.mit.edu	37	7	150935419	150935419	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:150935419G>A	uc003wjr.1	+	3	3484	c.1971G>A	c.(1969-1971)ggG>ggA	p.G657G	CHPF2_uc003wjq.1_Silent_p.G649G|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	657	Gly/Pro-rich.					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CCTCCCGGGGGGCTCCTATAG	0.687000														41			3		0	0	0.004672	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350520	134350520	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:134350520G>A	uc003qem.1	-	1	614	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	148						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AGTGGCAATGGAAGAGAGGGA	0.478000														29			17		0	0	0.006122	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72128159	72128159	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:72128159C>T	uc001xms.3	+	6	2591	c.2230C>T	c.(2230-2232)Ccg>Tcg	p.P744S	SIPA1L1_uc001xmt.3_Missense_Mutation_p.P744S|SIPA1L1_uc001xmu.3_Missense_Mutation_p.P744S|SIPA1L1_uc001xmv.3_Missense_Mutation_p.P744S|SIPA1L1_uc010ttm.2_Missense_Mutation_p.P219S	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	744	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGTGCACAATCCGTGCTCTGA	0.517000														27			28		0	0	0.015359	0	0
MYH7	4625	broad.mit.edu	37	14	23883309	23883309	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:23883309C>T	uc001wjx.3	-	37	5668	c.5562G>A	c.(5560-5562)acG>acA	p.T1854T		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1854			T -> M (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T1854M(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGTCCTCCTCCGTCTGGGGGC	0.602000														22			26		0	0	0.024334	0	0
TLN1	7094	broad.mit.edu	37	9	35703630	35703630	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:35703630G>A	uc003zxt.2	-	47	6755	c.6401C>T	c.(6400-6402)gCc>gTc	p.A2134V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	2134					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCTTCCACGGCTTTTACTGT	0.512000														83			11		0	0	0.016723	0	0
FAM83B	222584	broad.mit.edu	37	6	54805838	54805838	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:54805838G>T	uc003pck.3	+	4	2185	c.2069G>T	c.(2068-2070)aGg>aTg	p.R690M		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	690										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACACTTACCAGGAATCGAGTT	0.383000														35			7		5.18039e-06	5.3367e-06	0.003080	1	0
TIGD3	220359	broad.mit.edu	37	11	65124274	65124274	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:65124274G>A	uc021qlj.1	+	0	995	c.995G>A	c.(994-996)gGg>gAg	p.G332E	TIGD3_uc001odo.4_Missense_Mutation_p.G332E	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	332	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GCCGAGGCCGGGGCAGGCATC	0.637000														13			9		0	0	0.004482	0	0
GRM6	2916	broad.mit.edu	37	5	178410195	178410195	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:178410195C>T	uc003mjr.3	-	8	2331	c.2152G>A	c.(2152-2154)Gcc>Acc	p.A718T	GRM6_uc003mjq.3_Missense_Mutation_p.A121T	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	718					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)		GGGGGCCGGGCCCCCAGCCAT	0.612000														47			6		0	0	0.004482	0	0
ASXL3	80816	broad.mit.edu	37	18	31326113	31326113	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:31326113G>T	uc010dmg.1	+	11	6356	c.6301G>T	c.(6301-6303)Gtt>Ttt	p.V2101F	ASXL3_uc002kxq.2_Missense_Mutation_p.V1808F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	2101					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						CATGAAACAAGTTTCCTATGA	0.408000														39			19		2.89027e-11	3.02308e-11	0.014323	1	0
SULT2B1	6820	broad.mit.edu	37	19	49102448	49102448	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:49102448C>T	uc002pjl.3	+	6	964	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	SULT2B1_uc002pjm.3_Missense_Mutation_p.R280C	NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	295					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		AGCCTTCGATCGTGCCTACCG	0.667000														24			4		0	0	0.009096	0	0
WHSC1	7468	broad.mit.edu	37	4	1919900	1919900	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:1919900C>T	uc003gdz.4	+	4	1136	c.960C>T	c.(958-960)gcC>gcT	p.A320A	WHSC1_uc003geb.4_Silent_p.A320A|WHSC1_uc003gec.4_Silent_p.A320A|WHSC1_uc003ged.4_Silent_p.A320A|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gdx.3_Silent_p.A320A|WHSC1_uc003gdy.1_Silent_p.A320A|WHSC1_uc010icd.1_Silent_p.A320A|WHSC1_uc003gea.1_Silent_p.A320A|WHSC1_uc010ice.1_Silent_p.A320A|WHSC1_uc003geh.1_Silent_p.A320A	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	320					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AATTGAGGGCCCAGTGGGAAA	0.438000			T	IGH@	MM									26			27		0	0	0.007291	0	0
MTUS2	23281	broad.mit.edu	37	13	29599548	29599548	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr13:29599548G>A	uc001usl.4	+	0	801	c.743G>A	c.(742-744)gGa>gAa	p.G248E		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	238						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACCTCAGAGGGAAAGAGTGTG	0.577000														20			5		0	0	0.021553	0	0
KIF17	57576	broad.mit.edu	37	1	21011406	21011406	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:21011406G>A	uc001bdr.4	-	9	2245	c.2127C>T	c.(2125-2127)ccC>ccT	p.P709P	KIF17_uc001bdp.4_5'UTR|KIF17_uc009vpx.3_Silent_p.P79P|KIF17_uc001bds.4_Silent_p.P709P	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	709					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGGCCGGCAGGGGCTCAGGCT	0.672000														10			4		0	0	0.021553	0	0
BARX2	8538	broad.mit.edu	37	11	129306737	129306737	+	Silent	SNP	C	T	T	rs149011396	byFrequency	TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:129306737C>T	uc001qfc.4	+	1	329	c.279C>T	c.(277-279)atC>atT	p.I93I		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	93										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCCCGGGAATCGCCCAGGCAC	0.677000														97			28		0	0	0.009535	0	0
CMYA5	202333	broad.mit.edu	37	5	79035102	79035102	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:79035102A>T	uc003kgc.3	+	1	10586	c.10514A>T	c.(10513-10515)aAa>aTa	p.K3505I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3505						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)		AAAGAGCTGAAAAAGTCCCAG	0.428000														4			4		0	0	0.014758	0	0
PRB3	5544	broad.mit.edu	37	12	11420548	11420548	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:11420548C>T	uc001qzs.3	-	2	673	c.635G>A	c.(634-636)gGa>gAa	p.G212E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	212	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACTGGTTTCCTCCTTGTGG	0.622000														333			96		0	0	0.014410	0	0
CHRND	1144	broad.mit.edu	37	2	233399984	233399984	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:233399984C>T	uc002vsw.3	+	11	1520	c.1516C>T	c.(1516-1518)Ccc>Tcc	p.P506S	CHRND_uc010zmg.2_Missense_Mutation_p.P491S|CHRND_uc010zmh.2_Missense_Mutation_p.P312S	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	506					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TCCTGGGGACCCCTACTCCTA	0.602000														78			27		0	0	0.017118	0	0
BMP6	654	broad.mit.edu	37	6	7845444	7845444	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:7845444C>T	uc003mxu.4	+	1	914	c.736C>T	c.(736-738)Cct>Tct	p.P246S		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	246					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					ATCCCAGATTCCTGAGGGTGA	0.433000														76			24		0	0	0.013726	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246154	145246154	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:145246154C>T	uc003lns.1	-	1	474	c.474G>A	c.(472-474)atG>atA	p.M158I		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	158										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CTTCTTTGTTCATCAGAGACT	0.468000														48			31		0	0	0.021022	0	0
HIF3A	64344	broad.mit.edu	37	19	46811540	46811540	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:46811540G>A	uc002peh.3	+	3	457	c.426G>A	c.(424-426)caG>caA	p.Q142Q	HIF3A_uc002pef.2_Silent_p.Q142Q|HIF3A_uc002peg.4_Silent_p.Q142Q|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Silent_p.Q86Q|HIF3A_uc002pej.2_Silent_p.Q73Q|HIF3A_uc010xxy.2_Silent_p.Q73Q|HIF3A_uc002pel.3_Silent_p.Q140Q|HIF3A_uc010xxz.2_Silent_p.Q91Q	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	142	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGGAGCTTCAGGACGCCCTGA	0.602000														72			56		0	0	0.014410	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144912150	144912150	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:144912150G>A	uc021ouh.1	-	14	2427	c.2125C>T	c.(2125-2127)Ctt>Ttt	p.L709F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.L709F|PDE4DIP_uc001elx.4_Missense_Mutation_p.L775F|PDE4DIP_uc001emd.2_Missense_Mutation_p.L709F|PDE4DIP_uc001emc.2_Missense_Mutation_p.L709F|PDE4DIP_uc001emb.1_Missense_Mutation_p.L872F|PDE4DIP_uc001eme.1_Missense_Mutation_p.L238F	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	709					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTTTCCAAGACAGCCAGTG	0.403000			T	PDGFRB	MPD									110			11		0	0	0.010729	0	0
BPTF	2186	broad.mit.edu	37	17	65850419	65850419	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:65850419G>A	uc002jgf.3	+	1	1038	c.977G>A	c.(976-978)tGg>tAg	p.W326*	BPTF_uc002jge.3_Nonsense_Mutation_p.W326*|BPTF_uc010wqm.1_Nonsense_Mutation_p.W326*	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	326					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGGATGACGTGGCCAGAGGTG	0.478000														89			14		0	0	0.020292	0	0
SCUBE2	57758	broad.mit.edu	37	11	9069050	9069050	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:9069050G>A	uc001mhi.2	-	15	1930	c.1855C>T	c.(1855-1857)Cgc>Tgc	p.R619C	SCUBE2_uc021qdk.1_Missense_Mutation_p.R38C|SCUBE2_uc001mhj.2_Missense_Mutation_p.R464C	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	590						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CTGAGCGTGCGGATGGCTTTA	0.562000														43			6		0	0	0.006214	0	0
BMP3	651	broad.mit.edu	37	4	81966920	81966920	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:81966920C>T	uc003hmg.4	+	1	665	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	115					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GACTGTATATCTTCAATCTGA	0.373000														26			5		0	0	0.021553	0	0
CCDC141	285025	broad.mit.edu	37	2	179730554	179730554	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:179730554C>T	uc002une.2	-	16	2782	c.2664G>A	c.(2662-2664)gaG>gaA	p.E888E	CCDC141_uc002unf.1_Silent_p.E367E	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	313							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCCGTCCATACTCCTCAGCTT	0.527000														271			98		0	0	0.014410	0	0
SNRNP200	23020	broad.mit.edu	37	2	96944683	96944683	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:96944683G>A	uc002svu.3	-	36	5319	c.5187C>T	c.(5185-5187)gaC>gaT	p.D1729D	SNRNP200_uc002svt.3_Silent_p.D339D|SNRNP200_uc010yuj.2_Non-coding_Transcript	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1729	Helicase C-terminal 2.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCATACAGTGGTCCAGGTGAG	0.463000														67			36		0	0	0.011902	0	0
FCRL4	83417	broad.mit.edu	37	1	157548609	157548609	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:157548609G>A	uc001fqw.3	-	8	1447	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	FCRL4_uc010phy.2_Intron	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	437						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGATGGAATGGGAGGACTCTC	0.537000														27			12		0	0	0.024245	0	0
KLHL4	56062	broad.mit.edu	37	X	86880625	86880625	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:86880625G>T	uc004efa.2	+	5	1335	c.1153G>T	c.(1153-1155)Gaa>Taa	p.E385*	KLHL4_uc004efb.2_Nonsense_Mutation_p.E385*	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	385						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGCAGATCTTGAAACCAGTTC	0.388000														7			15		1.15919e-05	1.19159e-05	0.008871	1	0
PRIM2	5558	broad.mit.edu	37	6	57398258	57398258	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:57398258G>A	uc003pdx.3	+	9	1048	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	321					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTAACTTTGGAACAGACATT	0.383000														112			17		0	0	0.010504	0	0
TSHR	7253	broad.mit.edu	37	14	81610646	81610646	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:81610646C>T	uc001xvd.1	+	9	2400	c.2244C>T	c.(2242-2244)acC>acT	p.T748T		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	748					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.L747I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCCATCTAACCCCAAAGAAGC	0.408000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							52			12		0	0	0.028581	0	0
ISG20L2	81875	broad.mit.edu	37	1	156697038	156697038	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:156697038G>T	uc001fps.1	-	0	668	c.407C>A	c.(406-408)tCt>tAt	p.S136Y	ISG20L2_uc001fpt.1_Missense_Mutation_p.S136Y|RRNAD1_uc001fpu.3_5'Flank|RRNAD1_uc001fpv.3_5'Flank	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	136					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCTTCTGAGAGCGGGTTGG	0.483000											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		108			5		0.0215528	0.0218731	0.021553	1	0
FASTKD5	60493	broad.mit.edu	37	20	3128839	3128839	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:3128839T>A	uc021vzx.1	-	0	878	c.878A>T	c.(877-879)cAg>cTg	p.Q293L	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.Q293L	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	293					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CTGGGATACCTGACGATTTTC	0.338000														53			26		0	0	0.009535	0	0
ILDR2	387597	broad.mit.edu	37	1	166904697	166904697	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:166904697C>T	uc001gdx.2	-	5	777	c.721G>A	c.(721-723)Gca>Aca	p.A241T		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	241						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GCCTTTGCTGCTTTCCCTGCT	0.577000														29			4		0	0	0.021553	0	0
RNF133	168433	broad.mit.edu	37	7	122338308	122338308	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:122338308C>T	uc003vkj.1	-	0	901	c.665G>A	c.(664-666)aGa>aAa	p.R222K	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	222						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TCGCTGCCATCTCCGGTTCTG	0.388000														127			15		0	0	0.028581	0	0
PLIN1	5346	broad.mit.edu	37	15	90213233	90213233	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:90213233G>A	uc010upx.1	-	4	686	c.576C>T	c.(574-576)ctC>ctT	p.L192L	PLIN1_uc002boh.2_Silent_p.L192L	NM_001145311	NP_002657	O60240	PLIN1_HUMAN	Homo sapiens perilipin 1 (PLIN1), transcript variant 2, mRNA.	192					triglyceride catabolic process	lipid particle	lipid binding	p.L191R(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						TGTCTGGAGGGAGGAGGTACT	0.597000														21			16		0	0	0.012319	0	0
RP1L1	94137	broad.mit.edu	37	8	10474018	10474018	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:10474018A>C	uc003wtc.3	-	2	918	c.689T>G	c.(688-690)aTg>aGg	p.M230R		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	230					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)		GGCATTTTTCATGGCTGGGGT	0.572000														78			8		0	0	0.010729	0	0
MUC4	4585	broad.mit.edu	37	3	195515077	195515077	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:195515077T>C	uc021xjp.1	-	1	3530	c.3374A>G	c.(3373-3375)gAc>gGc	p.D1125G	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.	1002					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.D1125G(1)		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)		TGAGGAAGTGTCGGTGACAGG	0.557000														3			2		0	0	0.004672	0	0
EXOC1	55763	broad.mit.edu	37	4	56734621	56734621	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:56734621G>A	uc003hbe.1	+	4	693	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	EXOC1_uc003hbf.1_Missense_Mutation_p.E179K|EXOC1_uc003hbg.1_Missense_Mutation_p.E179K	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	179					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GGAAGGCTGTGAATATGCAAT	0.403000														51			49		0	0	0.014410	0	0
CDH9	1007	broad.mit.edu	37	5	26903765	26903765	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:26903765C>T	uc003jgs.1	-	5	1149	c.980G>A	c.(979-981)gGg>gAg	p.G327E	CDH9_uc010iug.3_Missense_Mutation_p.G327E	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	327	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGTTATAATCCCTTCCTGTGT	0.408000														111			55		0	0	0.014410	0	0
OR4P4	81300	broad.mit.edu	37	11	55406281	55406281	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:55406281G>A	uc010rij.2	+	0	448	c.448G>A	c.(448-450)Gga>Aga	p.G150R		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G150G(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGTACTGGGGGATTTATACA	0.428000														45			7		0	0	0.001984	0	0
SLC16A6	9120	broad.mit.edu	37	17	66268882	66268882	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:66268882G>A	uc002jha.2	-	4	716	c.403C>T	c.(403-405)Cca>Tca	p.P135S	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Missense_Mutation_p.P135S	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	135						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GTTACAGTTGGGAGAAAACTA	0.423000														53			28		0	0	0.007291	0	0
IL7R	3575	broad.mit.edu	37	5	35876106	35876106	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:35876106C>T	uc003jjs.3	+	7	987	c.898C>T	c.(898-900)Cct>Tct	p.P300S	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	300					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			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)			GAGTTTCAATCCTGAAAGTTT	0.418000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							38			10		0	0	0.008291	0	0
ITPR1	3708	broad.mit.edu	37	3	4776914	4776914	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:4776914T>C	uc003bqc.3	+	42	5725	c.5375T>C	c.(5374-5376)cTt>cCt	p.L1792P	ITPR1_uc021wsi.1_Missense_Mutation_p.L1759P|ITPR1_uc021wsj.1_Missense_Mutation_p.L1744P|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1807					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.R1791H(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CAGTGTCACCTTGACAAGGAG	0.502000														47			21		0	0	0.014323	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779486	97779486	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:97779486A>G	uc010qop.2	+	8	917	c.685A>G	c.(685-687)Aca>Gca	p.T229A	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Intron|CC2D2B_uc001kll.3_Missense_Mutation_p.T229A	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA.	229										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		ACAAAATAATACACCAATGGC	0.343000														71			61		0	0	0.014410	0	0
LINC00264	645528	broad.mit.edu	37	10	26880239	26880239	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:26880239G>A	uc001ist.3	+	2		c.474_splice	c.e2-1							Homo sapiens long intergenic non-protein coding RNA 264 (LINC00264), non-coding RNA.																		TCCCTCTCAGGACCTATAAAA	0.423000														25			30		0	0	0.015359	0	0
RASSF9	9182	broad.mit.edu	37	12	86199525	86199525	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:86199525C>T	uc001taf.1	-	1	602	c.263G>A	c.(262-264)aGg>aAg	p.R88K		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	88	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGAAGAACCCTTTCGGAGCC	0.458000														58			34		0	0	0.017118	0	0
PIWIL2	55124	broad.mit.edu	37	8	22139008	22139008	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr8:22139008G>T	uc003xbn.2	+	3	553	c.405G>T	c.(403-405)gaG>gaT	p.E135D	PIWIL2_uc011kzf.1_Missense_Mutation_p.E135D|PIWIL2_uc010ltv.2_Missense_Mutation_p.E135D	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	135					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)		AGATGGCAGAGACCTCCGTTG	0.483000														42			42		2.2871e-25	2.41865e-25	0.007835	1	0
TEX13A	56157	broad.mit.edu	37	X	104463824	104463824	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:104463824C>T	uc004ema.3	-	3	1158	c.1046G>A	c.(1045-1047)aGa>aAa	p.R349K	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.E352K	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	351						intracellular	zinc ion binding	p.G349fs*>4(1)		large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						ATGGTCTATTCTGTGGGGCCC	0.582000														21			36		0	0	0.023175	0	0
SPTA1	6708	broad.mit.edu	37	1	158632604	158632604	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:158632604G>A	uc001fst.1	-	16	2551	c.2352C>T	c.(2350-2352)acC>acT	p.T784T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	784					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTTCTTTCGGGTGGCCAGTG	0.473000														38			6		0	0	0.001984	0	0
TMEM150B	284417	broad.mit.edu	37	19	55828329	55828329	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:55828329C>T	uc010esw.1	-	6	503	c.330G>A	c.(328-330)aaG>aaA	p.K110K	TMEM150B_uc010yfu.1_Silent_p.K110K|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.	110						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GCCGCTGGTTCTTTTCCTGGG	0.597000														9			11		0	0	0.016723	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919399	130919399	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:130919399C>G	uc001uil.2	-	10	2298	c.2082G>C	c.(2080-2082)gaG>gaC	p.E694D	RIMBP2_uc001uim.3_Missense_Mutation_p.E602D	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	694						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGCTGCTTCTCTCTAGGAAGA	0.592000														72			13		0	0	0.020292	0	0
ALPK2	115701	broad.mit.edu	37	18	56171359	56171359	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:56171359G>A	uc002lhj.4	-	10	6265	c.6051C>T	c.(6049-6051)atC>atT	p.I2017I		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	2017	Alpha-type protein kinase.						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						CAGGCCGATGGATAAGAAAAA	0.473000														71			14		0	0	0.024245	0	0
DOCK3	1795	broad.mit.edu	37	3	51265425	51265425	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:51265425G>A	uc011bds.2	+	16	1576	c.1553G>A	c.(1552-1554)gGg>gAg	p.G518E		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	518	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAGGACAAAGGGGAAAAGAAA	0.428000														21			9		0	0	0.006214	0	0
ZNF195	7748	broad.mit.edu	37	11	3381134	3381134	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:3381134G>A	uc001lxt.3	-	5	1286	c.1104C>T	c.(1102-1104)agC>agT	p.S368S	ZNF195_uc010qxr.2_Silent_p.S349S|ZNF195_uc009ydz.3_Silent_p.S323S|ZNF195_uc001lxu.3_Silent_p.S300S|ZNF195_uc001lxv.3_Silent_p.S345S|ZNF195_uc021qck.1_Silent_p.S300S|ZNF195_uc001lxs.3_Silent_p.S296S	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	368				Missing (in Ref. 2; BAD18466).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		GATTAGAAAGGCTTGAGCAAG	0.423000														94			25		0	0	0.021523	0	0
IGFBP5	3488	broad.mit.edu	37	2	217543762	217543762	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:217543762C>T	uc002vgj.4	-	1	1152	c.378G>A	c.(376-378)gaG>gaA	p.E126E		NM_000599	NP_000590	P24593	IBP5_HUMAN	Homo sapiens insulin-like growth factor binding protein 5 (IGFBP5), mRNA.	126					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCGGCCATCTCAGAGGTGG	0.632000														64			16		0	0	0.008871	0	0
CD163	9332	broad.mit.edu	37	12	7651747	7651747	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:7651747C>T	uc001qsz.3	-	3	623	c.495G>A	c.(493-495)ggG>ggA	p.G165G	CD163_uc001qta.3_Silent_p.G165G|CD163_uc009zfw.2_Silent_p.G165G	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	165	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AACACATATTCCCTCCACGCG	0.403000														214			78		0	0	0.014410	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418987	105418987	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:105418987G>A	uc010axc.1	-	6	2921	c.2801C>T	c.(2800-2802)cCc>cTc	p.P934L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P834L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	934						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCTATCTGGGGGCCCTTGAG	0.627000														114			138		0	0	0.014410	0	0
TTBK1	84630	broad.mit.edu	37	6	43225617	43225617	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:43225617G>T	uc003ouq.1	+	9	1208	c.929G>T	c.(928-930)tGg>tTg	p.W310L		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	310						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GCCTTTGACTGGGAGAAGGCA	0.592000														102			19		1.28384e-07	1.33408e-07	0.012319	1	0
KCNF1	3754	broad.mit.edu	37	2	11053017	11053017	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:11053017C>T	uc002rax.3	+	0	955	c.465C>T	c.(463-465)gaC>gaT	p.D155D		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	155						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TGGGCGTGGACGCAGCCGAGG	0.692000														34			3		0	0	0.009096	0	0
AKR1C3	8644	broad.mit.edu	37	10	5139671	5139671	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:5139671G>A	uc001ihr.3	+	2	481	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	AKR1C3_uc021pml.1_Missense_Mutation_p.E100K|AKR1C3_uc010qap.2_Missense_Mutation_p.E77K|AKR1C3_uc010qaq.1_Missense_Mutation_p.E100K|AKR1C3_uc001ihu.3_Missense_Mutation_p.E100K	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	100					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ACCAGCCTTGGAAAACTCACT	0.398000														60			37		0	0	0.010771	0	0
HMCN1	83872	broad.mit.edu	37	1	186106752	186106752	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:186106752C>T	uc001grq.1	+	87	13934	c.13705C>T	c.(13705-13707)Caa>Taa	p.Q4569*	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Nonsense_Mutation_p.Q138*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4569	TSP type-1 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAGCCCTGCCAAGGTTCAGA	0.478000														22			27		0	0	0.009535	0	0
DBC1	1620	broad.mit.edu	37	9	121929509	121929509	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:121929509C>T	uc004bkc.2	-	7	2595	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	713					cell cycle arrest|cell death	cytoplasm	protein binding	p.P712L(1)|p.P712T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGGGGTTTCCCCGGGGCCA	0.552000														43			40		0	0	0.009718	0	0
ZNF574	64763	broad.mit.edu	37	19	42584406	42584406	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:42584406C>T	uc002osk.4	+	1	2153	c.1918C>T	c.(1918-1920)Ccc>Tcc	p.P640S	ZNF574_uc002osm.4_Missense_Mutation_p.P550S|ZNF574_uc021uva.1_Missense_Mutation_p.P550S	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AGGAGAGCGGCCCTACCGGTG	0.652000														107			26		0	0	0.021523	0	0
DNAI1	27019	broad.mit.edu	37	9	34491552	34491552	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:34491552G>A	uc003zum.3	+	8	874	c.681_splice	c.e8+1	p.Q227_splice		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	227					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CAGCCAATCAGGTAAGACCCT	0.522000									Kartagener syndrome					27			30		0	0	0.017118	0	0
NDST4	64579	broad.mit.edu	37	4	115754820	115754820	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:115754820C>T	uc003ibu.3	-	11	3017	c.2338G>A	c.(2338-2340)Gat>Aat	p.D780N	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	780	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGGACTTCATCCATCACAGTA	0.363000														31			5		0	0	0.021553	0	0
CLTC	1213	broad.mit.edu	37	17	57756867	57756867	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:57756867C>T	uc002ixr.1	+	17	3361	c.2918C>T	c.(2917-2919)cCc>cTc	p.P973L	CLTC_uc002ixp.3_Missense_Mutation_p.P969L|CLTC_uc002ixq.1_Missense_Mutation_p.P969L	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	969	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TACAGGAGACCCCTAATTGAC	0.418000			T	"""ALK, TFE3"""	"""ALCL, renal """									56			16		0	0	0.012319	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216011	149216011	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:149216011C>T	uc003lrc.3	+	7	2084	c.1993C>T	c.(1993-1995)Ctg>Ttg	p.L665L	PPARGC1B_uc003lrb.2_Silent_p.L665L|PPARGC1B_uc003lrd.3_Silent_p.L626L|PPARGC1B_uc021yfr.1_Silent_p.L601L|PPARGC1B_uc003lre.1_Silent_p.L644L|PPARGC1B_uc003lrf.3_Silent_p.L644L	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	665					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AAGTGAGCTCCTGTCCCACCT	0.627000														49			10		0	0	0.006214	0	0
CEP192	55125	broad.mit.edu	37	18	13099491	13099491	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:13099491C>A	uc010xac.2	+	36	6654	c.6574C>A	c.(6574-6576)Ctt>Att	p.L2192I	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.L1717I|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.L614I|CEP192_uc002krx.3_Missense_Mutation_p.L196I|CEP192_uc002kry.3_Non-coding_Transcript	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1787										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACTACAAATTCTTGTGAGTCC	0.338000														33			16		2.35188e-11	2.46535e-11	0.006122	1	0
ANO4	121601	broad.mit.edu	37	12	101333113	101333113	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:101333113C>T	uc010svm.1	+	3	753	c.181C>T	c.(181-183)Ctt>Ttt	p.L61F	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.L26F|ANO4_uc001thx.2_Missense_Mutation_p.L61F	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	61						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGTCAATATTCTTTTTGATGA	0.393000										HNSCC(74;0.22)				55			41		0	0	0.013114	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105440679	105440679	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:105440679G>A	uc001tlc.3	-	13	1882	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	ALDH1L2_uc009zuo.3_Silent_p.L40L|ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	585	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TATCTTACCCGAGTGGCTCTT	0.413000														225			37		0	0	0.013114	0	0
PROM2	150696	broad.mit.edu	37	2	95954337	95954337	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:95954337G>A	uc002suk.3	+	22	2574	c.2441_splice	c.e22+1	p.S814_splice	PROM2_uc002suh.2_Splice_Site_p.S814_splice|PROM2_uc002sui.3_Splice_Site_p.S814_splice|PROM2_uc002suj.3_Splice_Site_p.S468_splice|PROM2_uc002sul.3_Splice_Site_p.S340_splice|PROM2_uc002sum.3_Splice_Site	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	814						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AAACGCCTCAGGTGAGGGGCT	0.617000														53			21		0	0	0.007291	0	0
TNXB	7148	broad.mit.edu	37	6	32017243	32017243	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:32017243G>A	uc003nzl.2	-	27	9757	c.9555C>T	c.(9553-9555)acC>acT	p.T3185T	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3232	Fibronectin type-III 23.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTGGGGGACGGTCCAGGAGA	0.682000														66			8		0	0	0.013537	0	0
SLC45A1	50651	broad.mit.edu	37	1	8397904	8397904	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:8397904C>T	uc001apb.3	+	5	1626	c.1626C>T	c.(1624-1626)ctC>ctT	p.L542L	SLC45A1_uc001apc.3_Silent_p.L240L	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	542					carbohydrate transport	integral to membrane	symporter activity	p.L542L(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGTTGCTCTTCTACACAG	0.557000														76			27		0	0	0.015359	0	0
SS18	6760	broad.mit.edu	37	18	23615044	23615044	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:23615044G>A	uc002kvm.3	-	8	1099	c.1021C>T	c.(1021-1023)Cca>Tca	p.P341S	SS18_uc002kvn.3_Missense_Mutation_p.P310S|SS18_uc010xbf.2_Missense_Mutation_p.P259S|SS18_uc010xbg.2_Missense_Mutation_p.P258S|SS18_uc010xbh.2_Missense_Mutation_p.P258S|SS18_uc010xbi.2_Missense_Mutation_p.P318S|SS18_uc010dlz.1_Missense_Mutation_p.P289S	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.	341	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					CCCTGTTGTGGAGGTGGTCCC	0.478000			T	"""SSX1,  SSX2"""	synovial sarcoma									56			25		0	0	0.007291	0	0
PRR12	57479	broad.mit.edu	37	19	50099390	50099390	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:50099390C>T	uc002poo.4	+	3	1798	c.1798C>T	c.(1798-1800)Ctg>Ttg	p.L600L		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	364	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGCGCCTTTCCTGGCACCTCC	0.687000														54			4		0	0	0.009096	0	0
AKT2	208	broad.mit.edu	37	19	40741909	40741909	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:40741909G>A	uc002onf.3	-	10	1362	c.1063C>T	c.(1063-1065)Cac>Tac	p.H355Y	AKT2_uc010egs.3_Missense_Mutation_p.H312Y|AKT2_uc010xvj.2_Missense_Mutation_p.H293Y|AKT2_uc010egt.3_Missense_Mutation_p.H293Y|AKT2_uc010egu.2_Missense_Mutation_p.H293Y|AKT2_uc002one.3_Missense_Mutation_p.H251Y	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	355	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			AGGCGCTCGTGGTCCTGGTTG	0.627000			A		"""ovarian, pancreatic """									41			45		0	0	0.014410	0	0
ITPR3	3710	broad.mit.edu	37	6	33660659	33660659	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:33660659G>A	uc021ywr.1	+	54	7837	c.7613G>A	c.(7612-7614)tGc>tAc	p.C2538Y		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	2538					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						AAGACGACATGCTTCATCTGT	0.547000														18			10		0	0	0.008291	0	0
DNAH5	1767	broad.mit.edu	37	5	13839571	13839571	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:13839571C>T	uc003jfd.2	-	34	5818	c.5776G>A	c.(5776-5778)Gaa>Aaa	p.E1926K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1926	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGAATCTTCGTTAAAGTAA	0.383000									Kartagener syndrome					48			5		0	0	0.014758	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101583064	101583064	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:101583064C>T	uc003knm.3	-	9	1990	c.1703G>A	c.(1702-1704)gGa>gAa	p.G568E		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	568					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTCACATTTTCCAGCTTTAGC	0.328000														70			28		0	0	0.021022	0	0
GALNT5	11227	broad.mit.edu	37	2	158153009	158153009	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:158153009G>A	uc002tzg.3	+	4	2236	c.1981G>A	c.(1981-1983)Gaa>Aaa	p.E661K	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	661					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CAGAATTAAAGAAACTGATAC	0.343000														29			11		0	0	0.013537	0	0
CACNB4	785	broad.mit.edu	37	2	152737314	152737314	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:152737314C>T	uc002tya.3	-	4	458	c.390_splice	c.e4+1	p.E130_splice	CACNB4_uc002txy.3_Splice_Site_p.E96_splice|CACNB4_uc002txz.3_Splice_Site_p.E112_splice|CACNB4_uc010fnz.3_Splice_Site_p.E130_splice|CACNB4_uc021vre.1_Splice_Site_p.E96_splice|CACNB4_uc002tyb.2_Splice_Site_p.E96_splice	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	130	SH3.				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CTACATTTACCTCTTTAATAT	0.488000														11			6		0	0	0.021553	0	0
FMO5	2330	broad.mit.edu	37	1	146658593	146658593	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:146658593C>T	uc001epi.2	-	8	1877	c.1488G>A	c.(1486-1488)agG>agA	p.R496R	FMO5_uc001eph.4_Intron|FMO5_uc001epj.2_3'UTR	NM_001461	NP_001452	P49326	FMO5_HUMAN	Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA.	496						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TCAGAGGCTTCCTGATGCGAT	0.453000														37			22		0	0	0.016522	0	0
BPIFB1	92747	broad.mit.edu	37	20	31889048	31889048	+	Silent	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:31889048T>C	uc002wyw.1	+	8	918	c.757T>C	c.(757-759)Ttg>Ctg	p.L253L	BPIFB1_uc002wyx.1_5'Flank	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	253						extracellular space	lipid binding										GGCCAAGTTGTTGGACTCACA	0.498000														125			30		0	0	0.009535	0	0
OR2A2	442361	broad.mit.edu	37	7	143807476	143807476	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:143807476G>A	uc011ktz.2	+	0	801	c.801G>A	c.(799-801)gaG>gaA	p.E267E		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R266Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ATCAACGAGAGGAGCAGGAGA	0.512000														111			125		0	0	0.014410	0	0
MORC4	79710	broad.mit.edu	37	X	106205311	106205311	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:106205311A>C	uc004emu.4	-	9	1462	c.1187T>G	c.(1186-1188)cTc>cGc	p.L396R	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Missense_Mutation_p.L396R|MORC4_uc004emw.4_Missense_Mutation_p.L144R	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	396							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GTAAGCATTGAGCTTCTGGGC	0.363000														33			60		0	0	0.014410	0	0
TRIM7	81786	broad.mit.edu	37	5	180625700	180625700	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:180625700C>T	uc003mmz.1	-	4	1045	c.978G>A	c.(976-978)aaG>aaA	p.K326K	TRIM7_uc003mmv.1_Silent_p.K144K|TRIM7_uc003mmw.1_Silent_p.K118K|TRIM7_uc003mmy.1_Silent_p.K118K|TRIM7_uc003mmx.1_Silent_p.K118K	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	326	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CTTTGAACTTCTTCAGCATCC	0.537000														21			9		0	0	0.004482	0	0
KPRP	448834	broad.mit.edu	37	1	152733646	152733646	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:152733646C>T	uc001fal.1	+	1	1640	c.1582C>T	c.(1582-1584)Ccc>Tcc	p.P528S	KPRP_uc021ozf.1_Missense_Mutation_p.P528S	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	528						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCGAAGCTCCCTACTGTGG	0.607000														52			11		0	0	0.020292	0	0
NUP205	23165	broad.mit.edu	37	7	135311087	135311087	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:135311087C>G	uc003vsw.3	+	32	4802	c.4771C>G	c.(4771-4773)Cgc>Ggc	p.R1591G		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1591					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.R1591H(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTATGACATGCGCCCAGAAAC	0.423000														93			10		0	0	0.010729	0	0
AK309896	0	broad.mit.edu	37	9	66513819	66513819	+	RNA	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:66513819C>T	uc010mnh.1	-	5		c.929G>A								Homo sapiens cDNA FLJ20444 fis, clone KAT05128.																		GGTATTCAAACAGCTCTTCTA	0.498000														57			6		0	0	0.008291	0	0
KIF3C	3797	broad.mit.edu	37	2	26203833	26203833	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:26203833C>T	uc002rgu.2	-	0	1611	c.954G>A	c.(952-954)cgG>cgA	p.R318R	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Silent_p.R318R	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	318	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTGGAGTCCCGGTAGGGAA	0.592000														42			13		0	0	0.016723	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269299	30269299	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:30269299A>T	uc022buh.1	+	0	689	c.689A>T	c.(688-690)tAt>tTt	p.Y230F	MAGEB1_uc004dcc.3_Missense_Mutation_p.Y230F|MAGEB1_uc004dcd.3_Missense_Mutation_p.Y230F|MAGEB1_uc004dce.3_Missense_Mutation_p.Y230F	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	230	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TTGGGAGCCTATGATGGAGAG	0.488000														8			8		0	0	0.004482	0	0
OR4D11	219986	broad.mit.edu	37	11	59271951	59271951	+	Silent	SNP	G	A	A	rs116174674	by1000genomes	TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:59271951G>A	uc001noa.1	+	0	903	c.903G>A	c.(901-903)ctG>ctA	p.L301L		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGAGAAGACTGAAGAGAAGAC	0.522000														29			7		0	0	0.004482	0	0
FEM1C	56929	broad.mit.edu	37	5	114860482	114860483	+	Missense_Mutation	DNP	TA	CT	CT			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:114860482_114860483TA>CT	uc003krb.1	-	2	1938_1939	c.1376_1377TA>AG	c.(1375-1377)cta>cAG	p.L459Q	FEM1C_uc021ycp.1_Missense_Mutation_p.L166Q	NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	Homo sapiens fem-1 homolog c (C. elegans) (FEM1C), mRNA.	459						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GGTCTTGTTCTAGAGTACAAGG	0.386000														63			12		0	0	0.004672	0	0
ILDR1	286676	broad.mit.edu	37	3	121712741	121712741	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:121712741G>A	uc003ees.3	-	6	1058	c.855C>T	c.(853-855)gtC>gtT	p.V285V	ILDR1_uc003eeq.3_Silent_p.V253V|ILDR1_uc003eer.3_Silent_p.V241V|ILDR1_uc010hrg.3_Silent_p.V196V	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	285						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		AATACTCCAGGACACCATTGG	0.567000														32			21		0	0	0.024334	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140746180	140746180	+	Silent	SNP	G	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:140746180G>T	uc003lju.2	+	0	2283	c.2283G>T	c.(2281-2283)gcG>gcT	p.A761A	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_uc011das.2_Silent_p.A761A	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	766					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)			CCCTCACCGCGGACTCGAGGA	0.592000														97			63		5.32961e-40	5.67384e-40	0.014410	1	0
ABCA4	24	broad.mit.edu	37	1	94528173	94528173	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:94528173A>T	uc001dqh.3	-	12	2001	c.1897T>A	c.(1897-1899)Tac>Aac	p.Y633N	ABCA4_uc010otn.1_Missense_Mutation_p.Y633N	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	633					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGCTGGAGGTAGATTCCAACT	0.577000														43			11		0	0	0.013537	0	0
SCUBE3	222663	broad.mit.edu	37	6	35211401	35211401	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr6:35211401G>A	uc003okf.1	+	15	1946	c.1940G>A	c.(1939-1941)gGc>gAc	p.G647D	SCUBE3_uc003okg.1_Missense_Mutation_p.G646D|SCUBE3_uc003okh.1_Missense_Mutation_p.G534D	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	647					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TATTACCACGGCCAGACGGAG	0.667000														15			10		0	0	0.006214	0	0
CD1E	913	broad.mit.edu	37	1	158324176	158324176	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:158324176C>T	uc001fse.3	+	1	361	c.68C>T	c.(67-69)gCt>gTt	p.A23V	CD1E_uc010pid.2_Missense_Mutation_p.A21V|CD1E_uc010pie.2_Intron|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.A23V|CD1E_uc001fsf.3_Missense_Mutation_p.A23V|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Intron|CD1E_uc001fsj.3_Missense_Mutation_p.A23V|CD1E_uc001fsk.3_Missense_Mutation_p.A23V|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.A23V|CD1E_uc001frz.3_Missense_Mutation_p.A23V|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	23					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCTCCCCAGGCTCTACAATCC	0.507000														143			22		0	0	0.021523	0	0
NDST3	9348	broad.mit.edu	37	4	119161842	119161842	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:119161842C>T	uc003ibx.3	+	10	2685	c.2282C>T	c.(2281-2283)cCa>cTa	p.P761L		NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	761	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TATTTCCCCCCATTTCAGGTA	0.438000														26			7		0	0	0.001984	0	0
HYDIN	54768	broad.mit.edu	37	16	71209557	71209557	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:71209557C>T	uc002ezr.3	-	4	620	c.469G>A	c.(469-471)Gga>Aga	p.G157R	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Missense_Mutation_p.G157R|HYDIN_uc010vmc.2_Missense_Mutation_p.G174R|HYDIN_uc010vmd.2_Missense_Mutation_p.G184R|HYDIN_uc002ezw.4_Missense_Mutation_p.G174R	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	157										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAAGGCACTCCAGGAGCCACT	0.448000														60			21		0	0	0.018920	0	0
UPB1	51733	broad.mit.edu	37	22	24909338	24909338	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr22:24909338G>A	uc003aaf.3	+	4	1801	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	UPB1_uc003aae.3_Missense_Mutation_p.R101Q	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	169	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					ATCCTGGAACGAGACAGCGAG	0.488000														75			28		0	0	0.015359	0	0
TXNDC15	79770	broad.mit.edu	37	5	134229287	134229287	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:134229287C>T	uc003lac.1	+	2	1355	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	TXNDC15_uc010jdy.1_Non-coding_Transcript	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	Homo sapiens thioredoxin domain containing 15 (TXNDC15), mRNA.	233	Thioredoxin.				cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTTAACTCTCTGCCCCGGGC	0.512000														110			25		0	0	0.018920	0	0
CCDC137	339230	broad.mit.edu	37	17	79637484	79637484	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:79637484G>A	uc002kbc.4	+	3	533	c.497_splice	c.e3+1	p.A166_splice		NM_199287	NP_954981	Q6PK04	CC137_HUMAN	Homo sapiens coiled-coil domain containing 137 (CCDC137), mRNA.	166										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CAAAAAAAGCGTGAGTGGAGG	0.597000														8			16		0	0	0.004990	0	0
ABCG8	64241	broad.mit.edu	37	2	44102553	44102553	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:44102553G>A	uc002rtq.3	+	11	1846	c.1756_splice	c.e11+1	p.V586_splice	ABCG8_uc010yoa.2_Splice_Site_p.V585_splice	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	586	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGTGGACAGGTAAGGCCTGC	0.547000														31			17		0	0	0.007413	0	0
BEND2	139105	broad.mit.edu	37	X	18220055	18220055	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:18220055G>T	uc004cyj.4	-	5	1067	c.913C>A	c.(913-915)Cca>Aca	p.P305T	BEND2_uc010nfb.2_Intron	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	305										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGTCTTTCTGGCATTTCTGTA	0.343000														13			19		5.35267e-07	5.55005e-07	0.007413	1	0
TEKT3	64518	broad.mit.edu	37	17	15234658	15234658	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:15234658G>A	uc002gon.3	-	2	432	c.245C>T	c.(244-246)cCc>cTc	p.P82L		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	82					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GGAAACAAAGGGAAGCATGGT	0.498000														56			78		0	0	0.014410	0	0
SIRT4	23409	broad.mit.edu	37	12	120741433	120741433	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:120741433G>A	uc001tyc.3	+	1	128	c.69G>A	c.(67-69)ccG>ccA	p.P23P		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	Homo sapiens sirtuin 4 (SIRT4), mRNA.	23					chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAGCCAGCCGTGCTCGAAAG	0.498000														223			34		0	0	0.009718	0	0
TRHDE	29953	broad.mit.edu	37	12	72893278	72893278	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:72893278G>A	uc001sxa.3	+	6	1480	c.1450_splice	c.e6-1	p.E484_splice		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	484					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGTATTGCAGGAAAAGCAGAG	0.443000														48			5		0	0	0.021553	0	0
SF3B1	23451	broad.mit.edu	37	2	198264885	198264885	+	Silent	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:198264885T>C	uc002uue.3	-	19	2955	c.2907A>G	c.(2905-2907)aaA>aaG	p.K969K	SNORD2_uc021vul.1_5'Flank	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	969					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCCCATCAATTTTTCCTATA	0.338000			Mis		myelodysplastic syndrome									57			20		0	0	0.016522	0	0
ANKAR	150709	broad.mit.edu	37	2	190608180	190608180	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:190608180G>A	uc002uqw.2	+	20	4078	c.3990G>A	c.(3988-3990)ctG>ctA	p.L1330L	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript|ANKAR_uc002uqy.2_Intron	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	1330						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AACAAACACTGGTGGGACTTC	0.353000														16			9		0	0	0.008291	0	0
FAT4	79633	broad.mit.edu	37	4	126373645	126373645	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:126373645C>T	uc003ifj.4	+	8	11474	c.11474C>T	c.(11473-11475)tCc>tTc	p.S3825F	FAT4_uc011cgp.2_Missense_Mutation_p.S2123F|FAT4_uc003ifi.1_Missense_Mutation_p.S1303F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3825	EGF-like 1.				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						GCTGTGAGCTCCGTATTAAAA	0.512000														24			14		0	0	0.004990	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149350	142149350	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:142149350C>T	uc010lnw.1	-	0	125	c.43G>A	c.(43-45)Gta>Ata	p.V15I	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TCACCTGCTACCAGGAGACAA	0.607000														46			37		0	0	0.013114	0	0
SMYD3	64754	broad.mit.edu	37	1	245927409	245927409	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:245927409C>T	uc001ibl.3	-	10	1244	c.1119G>A	c.(1117-1119)gtG>gtA	p.V373V	SMYD3_uc001ibk.3_Silent_p.V314V|SMYD3_uc001ibj.3_Silent_p.V184V	NM_001167740	NP_073580	Q9H7B4	SMYD3_HUMAN	Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA.	373						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CAACTTTCATCACTTGAACCC	0.483000														87			17		0	0	0.010504	0	0
ZNF221	7638	broad.mit.edu	37	19	44469185	44469185	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:44469185C>T	uc002oxx.2	+	3	493	c.165C>T	c.(163-165)taC>taT	p.Y55Y	ZNF221_uc010ejb.1_Silent_p.Y55Y|ZNF221_uc010xws.1_Silent_p.Y55Y	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GGAAGCTGTACCGAGATGTGA	0.517000														230			25		0	0	0.010818	0	0
SLC39A5	283375	broad.mit.edu	37	12	56630755	56630755	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:56630755C>T	uc010sqj.2	+	10	1505	c.1248C>T	c.(1246-1248)acC>acT	p.T416T	SLC39A5_uc010sqk.2_Silent_p.T416T	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	416					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCTCAGTACCACCTTAGCGG	0.582000														205			136		0	0	0.014410	0	0
ACRV1	56	broad.mit.edu	37	11	125547954	125547954	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:125547954C>T	uc001qcs.3	-	1	409	c.291G>A	c.(289-291)gaG>gaA	p.E97E	ACRV1_uc001qcl.3_Intron|ACRV1_uc001qcn.3_Silent_p.E42E|ACRV1_uc001qcr.3_Silent_p.E97E	NM_001612	NP_001603	P26436	ASPX_HUMAN	Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA.	97	4 X 4 AA repeats of S-G-E-H.				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		TCGCAGCGGGCTCACCTGAAG	0.532000														43			6		0	0	0.021553	0	0
DNAH5	1767	broad.mit.edu	37	5	13766132	13766133	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:13766132_13766133CC>TT	uc003jfd.2	-	58	10095_10096	c.10053_10054GG>AA	c.(10051-10056)caggaa>caAAaa	p.E3352K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3352	Stalk (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)					TTTAAGGATTCCTGCCAGGAGG	0.446000									Kartagener syndrome					78			15		0	0	0.004672	0	0
OTOL1	131149	broad.mit.edu	37	3	161221501	161221501	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:161221501G>A	uc011bpb.2	+	3	1205	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	402	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CGACCTGCTCGAATCAGTCTG	0.468000														11			20		0	0	0.008871	0	0
ANGPT4	51378	broad.mit.edu	37	20	870890	870890	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr20:870890G>A	uc002wei.3	-	1	534	c.431C>T	c.(430-432)gCc>gTc	p.A144V	ANGPT4_uc010zpn.2_Missense_Mutation_p.A138V	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	144					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCGGATCTGGGCAGTGGTCTG	0.617000														41			17		0	0	0.010504	0	0
DNAH5	1767	broad.mit.edu	37	5	13823471	13823471	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:13823471C>T	uc003jfd.2	-	39	6630	c.6588G>A	c.(6586-6588)gaG>gaA	p.E2196E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2196					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E2196K(1)		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)					AGGGTTCATCCTCATCAATCT	0.378000									Kartagener syndrome					34			18		0	0	0.008871	0	0
OR51B5	282763	broad.mit.edu	37	11	5364717	5364717	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:5364717G>T	uc001map.1	-	0	38	c.38C>A	c.(37-39)aCt>aAt	p.T13N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.T13N	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAAAACCAGTCAATAGGAA	0.443000														32			4		0.0215528	0.0218731	0.021553	1	0
ANO1	55107	broad.mit.edu	37	11	70026114	70026114	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:70026114C>T	uc001opj.3	+	22	2660	c.2355C>T	c.(2353-2355)atC>atT	p.I785I	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc010rqk.2_Silent_p.I494I|ANO1_uc010rql.1_5'UTR	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	785					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CCCCAGGAATCTGGTACAATA	0.522000														46			20		0	0	0.008871	0	0
OR1L4	254973	broad.mit.edu	37	9	125486956	125486956	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:125486956C>T	uc004bmu.1	+	0	688	c.688C>T	c.(688-690)Ccc>Tcc	p.P230S		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GCTCAGAATCCCCTCTGCAGC	0.522000														226			63		0	0	0.014410	0	0
SYT4	6860	broad.mit.edu	37	18	40850435	40850435	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:40850435G>A	uc002law.3	-	3	1518	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S	SYT4_uc010dng.3_Non-coding_Transcript|SYT4_uc010xcm.2_Silent_p.S365S	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	383	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CCTCATTTCGGGACCCCCTTT	0.458000														45			19		0	0	0.008871	0	0
HOXA3	3200	broad.mit.edu	37	7	27150120	27150120	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:27150120C>T	uc011jzl.2	-	1	340	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	HOXA3_uc003syk.3_Missense_Mutation_p.R47Q	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	47					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCAGGCGGGTCGGTGGTACTC	0.692000														7			3		0	0	0.009096	0	0
RYR1	6261	broad.mit.edu	37	19	38980715	38980715	+	Splice_Site	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:38980715G>A	uc002oit.3	+	36	5945	c.5815_splice	c.e36-1	p.M1939_splice	RYR1_uc002oiu.3_Splice_Site_p.M1939_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1939	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCTTCCACAGATGTGCCACC	0.582000														73			11		0	0	0.024245	0	0
C1orf150	148823	broad.mit.edu	37	1	247737618	247737618	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:247737618G>A	uc001idf.3	+	4	489	c.342G>A	c.(340-342)agG>agA	p.R114R	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	114								p.L113F(1)		breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CCCTTCTTAGGACTTCTGTTA	0.443000														54			15		0	0	0.020292	0	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53216987	53216987	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr13:53216987C>T	uc001vgx.1	+	6	1433	c.360C>T	c.(358-360)caC>caT	p.H120H	HNRNPA1L2_uc001vgy.1_Silent_p.H120H|HNRNPA1L2_uc001vgz.1_Silent_p.H120H|HNRNPA1L2_uc021rjy.1_Silent_p.H120H	NM_001011724	NP_001011725	Q32P51	RA1L2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A1-like 2 (HNRNPA1L2), transcript variant 1, mRNA.	120	Globular B domain.|RRM 2.				RNA splicing|mRNA processing|mRNA transport	cytoplasm|spliceosomal complex	RNA binding|nucleotide binding			cervix(1)|large_intestine(1)|lung(5)	7						AAGAACATCACCTAAGAGATT	0.398000														36			8		0	0	0.008291	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900242	151900242	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:151900242C>T	uc022chj.1	-	0	559	c.559G>A	c.(559-561)Gat>Aat	p.D187N	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.D187N|MAGEA12_uc022chi.1_Missense_Mutation_p.D187N|MAGEA12_uc004fgc.3_Missense_Mutation_p.D187N|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	187	MAGE.			D -> A (in Ref. 1; AAA19023).						breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGGCCATCGTAGGAGAGG	0.582000														47			99		0	0	0.014410	0	0
TMX3	54495	broad.mit.edu	37	18	66346769	66346769	+	Splice_Site	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:66346769C>T	uc002lkf.3	-	15	1171	c.1036_splice	c.e15-1	p.A346_splice	TMX3_uc010xez.2_Splice_Site_p.A205_splice	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA.	346					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CTCCTTGGGCCTTCAAAAAAG	0.328000														35			5		0	0	0.001984	0	0
POLR3B	55703	broad.mit.edu	37	12	106824069	106824069	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:106824069A>G	uc001tlp.3	+	13	1504	c.1282A>G	c.(1282-1284)Aga>Gga	p.R428G	POLR3B_uc001tlq.3_Missense_Mutation_p.R370G	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	428					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.K427N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTCTTTAAAGAGATTTAAAAT	0.433000														149			30		0	0	0.013726	0	0
SATB2	23314	broad.mit.edu	37	2	200137016	200137016	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:200137016G>A	uc002uuy.2	-	10	2937	c.2120C>T	c.(2119-2121)tCc>tTc	p.S707F	SATB2_uc010fsq.2_Missense_Mutation_p.S589F|SATB2_uc002uva.2_Missense_Mutation_p.S707F|SATB2_uc002uuz.2_Missense_Mutation_p.S707F	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	707						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATCTCCTCGGAGCCTTCCTC	0.542000														65			31		0	0	0.012213	0	0
TECTA	7007	broad.mit.edu	37	11	121000698	121000698	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:121000698C>T	uc010rzo.2	+	8	2719	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	907	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAAGTTTTATCGAAGCCGCTC	0.562000														45			5		0	0	0.014758	0	0
MLLT3	4300	broad.mit.edu	37	9	20414298	20414298	+	Silent	SNP	A	G	G	rs143254940	byFrequency	TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:20414298A>G	uc003zoe.2	-	4	805	c.546T>C	c.(544-546)agT>agC	p.S182S	MLLT3_uc011lne.1_Silent_p.S150S|MLLT3_uc011lnf.1_Silent_p.S179S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	182	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.522000			T	MLL	ALL									39			6		0	0	0.003080	0	0
AFMID	125061	broad.mit.edu	37	17	76201792	76201792	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:76201792C>T	uc002juz.3	+	8	807	c.753C>T	c.(751-753)ttC>ttT	p.F251F	AFMID_uc002jva.3_Silent_p.F251F|AFMID_uc002jvb.3_Intron	NM_001145526	NP_001138998	Q63HM1	AFMID_HUMAN	Homo sapiens arylformamidase (AFMID), transcript variant 1, mRNA.	251						cytosol|nucleus	arylformamidase activity	p.E250K(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CCCCCGAATTCCACCGACAGT	0.592000														58			6		0	0	0.003080	0	0
VWA3A	146177	broad.mit.edu	37	16	22135021	22135021	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:22135021G>A	uc010vbq.2	+	15	1621	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.E517K	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	509						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CACAGTCTGTGAAAAAAGGTA	0.502000														96			21		0	0	0.010504	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140788198	140788198	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:140788198C>T	uc003lkj.2	+	0	429	c.429C>T	c.(427-429)ttC>ttT	p.F143F	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_uc003lki.1_Silent_p.F143F	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	143	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)			TAGAAATTTTCGAATCTGCAT	0.348000														24			25		0	0	0.021523	0	0
CACNG6	59285	broad.mit.edu	37	19	54496162	54496162	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:54496162G>A	uc002qct.3	+	0	621	c.31G>A	c.(31-33)Gag>Aag	p.E11K	CACNG6_uc002qcu.3_Missense_Mutation_p.E11K|CACNG6_uc002qcv.3_Missense_Mutation_p.E11K	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	11						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CCTGCAAGAGGAGAAccggcg	0.736000														24			14		0	0	0.006122	0	0
S100A9	6280	broad.mit.edu	37	1	153333202	153333202	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:153333202A>T	uc001fbq.3	+	2	276	c.233A>T	c.(232-234)gAg>gTg	p.E78V		NM_002965	NP_002956	P06702	S10A9_HUMAN	Homo sapiens S100 calcium binding protein A9 (S100A9), mRNA.	78	EF-hand 2.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCTTCGAGGAGTTCATCATG	0.562000														58			26		0	0	0.008361	0	0
FZD8	8325	broad.mit.edu	37	10	35929025	35929025	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr10:35929025C>T	uc001iyz.1	-	0	1338	c.1333G>A	c.(1333-1335)Gcg>Acg	p.A445T		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	445					T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						ACAAGCCACGCGGCCAGGTGG	0.652000														10			5		0	0	0.014758	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950486	235950486	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:235950486C>T	uc002vvp.3	+	3	1466	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	SH3BP4_uc010fym.3_Missense_Mutation_p.A358V|SH3BP4_uc002vvq.3_Missense_Mutation_p.A358V	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	358					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TCCATGAAAGCCCTGCTGGAC	0.627000														36			13		0	0	0.016723	0	0
ELAVL2	1993	broad.mit.edu	37	9	23704974	23704974	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:23704974C>T	uc003zpu.3	-	3	704	c.429G>A	c.(427-429)caG>caA	p.Q143Q	ELAVL2_uc003zps.3_Silent_p.Q143Q|ELAVL2_uc003zpt.3_Silent_p.Q143Q|ELAVL2_uc003zpv.3_Silent_p.Q143Q|ELAVL2_uc003zpw.3_Silent_p.Q143Q	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	143	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTGAAAAAAGCTGTTCCAACT	0.448000														41			40		0	0	0.010771	0	0
OR6C76	390326	broad.mit.edu	37	12	55820527	55820527	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:55820527G>A	uc010spm.2	+	0	490	c.490G>A	c.(490-492)Gat>Aat	p.D164N		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTTACAGCTGGATTTCTGTGA	0.453000														60			52		0	0	0.014410	0	0
DCHS2	54798	broad.mit.edu	37	4	155241615	155241615	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr4:155241615G>A	uc003inw.2	-	13	3571	c.3571C>T	c.(3571-3573)Cca>Tca	p.P1191S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1191	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCTTCGTCTGGATCGTGAGCA	0.443000														74			46		0	0	0.014410	0	0
DUSP16	80824	broad.mit.edu	37	12	12640061	12640061	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:12640061G>A	uc001rao.2	-	4	1355	c.592C>T	c.(592-594)Cct>Tct	p.P198S	DUSP16_uc001ran.2_Missense_Mutation_p.P50S	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	Homo sapiens dual specificity phosphatase 16 (DUSP16), mRNA.	198					MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive|inactivation of MAPK activity	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		ATAAAGTCAGGCTTTGGACAG	0.423000														113			34		0	0	0.021022	0	0
SACS	26278	broad.mit.edu	37	13	23908710	23908710	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr13:23908710A>T	uc001uon.2	-	9	9894	c.9305T>A	c.(9304-9306)tTa>tAa	p.L3102*	SACS_uc001uoo.2_Nonsense_Mutation_p.L2955*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3102					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAATGTCATTAAAAAAGATCT	0.353000														38			7		0	0	0.008291	0	0
FLG2	388698	broad.mit.edu	37	1	152325496	152325496	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:152325496G>A	uc001ezw.4	-	2	4839	c.4766C>T	c.(4765-4767)tCa>tTa	p.S1589L	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1589							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)			TGGTCTGTGTGAGCCCCCTGA	0.512000														160			153		0	0	0.014410	0	0
BSDC1	55108	broad.mit.edu	37	1	32849430	32849430	+	Splice_Site	SNP	C	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:32849430C>A	uc001bvi.3	-	4	455	c.408_splice	c.e4+1	p.K136_splice	BSDC1_uc001bvh.4_Splice_Site_p.K119_splice|BSDC1_uc010ohg.2_Splice_Site_p.K136_splice|BSDC1_uc010ohh.2_Intron|BSDC1_uc010ohi.2_Intron|BSDC1_uc001bvg.4_Splice_Site|BSDC1_uc001bvj.3_Splice_Site_p.K15_splice			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	119							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCAGTGAATACCTTGGTGCCA	0.517000														45			15		3.52763e-06	3.64192e-06	0.004990	1	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251875	25251875	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:25251875C>T	uc002dod.4	-	6	2573	c.2166G>A	c.(2164-2166)caG>caA	p.Q722Q	ZKSCAN2_uc010vcl.2_Silent_p.Q518Q	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	722					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCGGCTTTCCCTGTCTAATTC	0.453000														40			17		0	0	0.007413	0	0
PEG3	5178	broad.mit.edu	37	19	57326480	57326480	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:57326480C>A	uc002qnu.2	-	6	3681	c.3330G>T	c.(3328-3330)gaG>gaT	p.E1110D	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1081D|PEG3_uc002qnv.2_Missense_Mutation_p.E1110D|PEG3_uc002qnw.2_Missense_Mutation_p.E986D|PEG3_uc002qnx.2_Missense_Mutation_p.E984D|PEG3_uc010etr.2_Missense_Mutation_p.E1110D	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1110					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C1109F(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCCACAGTCCTCACATTCAT	0.502000														60			43		1.86633e-21	1.96499e-21	0.014410	1	0
SNRPN	6638	broad.mit.edu	37	15	25223563	25223563	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr15:25223563C>T	uc021sgb.1	+	7	1746	c.704C>T	c.(703-705)cCc>cTc	p.P235L	SNRPN_uc001ywp.1_Missense_Mutation_p.P232L|SNRPN_uc001ywq.1_Missense_Mutation_p.P232L|SNRPN_uc001ywr.1_Missense_Mutation_p.P232L|SNRPN_uc001yws.1_Missense_Mutation_p.P232L|SNRPN_uc001ywt.1_Missense_Mutation_p.P232L|SNRPN_uc001ywy.1_Missense_Mutation_p.P232L|SNRPN_uc001ywz.1_Intron|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Missense_Mutation_p.P232L	NM_022808	NP_073719	P63162	RSMN_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA.	232	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding	p.G234*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGTCCACCTCCCCCAGGAATG	0.473000									Prader-Willi syndrome					196			53		0	0	0.014410	0	0
PRKD3	23683	broad.mit.edu	37	2	37543540	37543540	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:37543540C>T	uc002rqd.3	-	0	683	c.128G>A	c.(127-129)gGa>gAa	p.G43E	PRKD3_uc002rqf.1_Missense_Mutation_p.G43E	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	43					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ACTGAAGCTTCCATTAGAGAG	0.502000														63			22		0	0	0.016522	0	0
DNAH7	56171	broad.mit.edu	37	2	196636561	196636561	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:196636561G>A	uc002utj.4	-	60	11357	c.11256C>T	c.(11254-11256)gtC>gtT	p.V3752V	DNAH7_uc002uti.4_Silent_p.V235V	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3752					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.V3752V(2)		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						TGTCACTAGCGACCTCATTCA	0.428000														162			64		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9072618	9072618	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:9072618G>A	uc002mkp.3	-	2	15032	c.14828C>T	c.(14827-14829)cCt>cTt	p.P4943L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4945	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						GGACTGATCAGGGCCAGGGAA	0.498000														66			40		0	0	0.014410	0	0
FLNB	2317	broad.mit.edu	37	3	58087985	58087985	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr3:58087985C>T	uc003djj.2	+	8	1566	c.1401C>T	c.(1399-1401)gtC>gtT	p.V467V	FLNB_uc010hne.2_Silent_p.V467V|FLNB_uc003djk.2_Silent_p.V467V|FLNB_uc010hnf.2_Silent_p.V467V|FLNB_uc003djl.2_Silent_p.V298V|FLNB_uc003djm.2_Silent_p.V298V	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	467					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCAAAGGCGTCCGTATCCGGG	0.502000														54			32		0	0	0.013726	0	0
CHRM4	1132	broad.mit.edu	37	11	46406672	46406672	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:46406672C>T	uc001nct.1	-	0	1436	c.1436G>A	c.(1435-1437)aGg>aAg	p.R479K		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	479					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GCCTGCCTACCTGGCAGTGCC	0.597000														9			7		0	0	0.001984	0	0
ZNF180	7733	broad.mit.edu	37	19	44981860	44981860	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:44981860G>A	uc002ozf.4	-	4	1120	c.838C>T	c.(838-840)Caa>Taa	p.Q280*	ZNF180_uc002ozh.4_5'UTR|ZNF180_uc002ozi.4_Nonsense_Mutation_p.Q253*|ZNF180_uc002ozg.4_Nonsense_Mutation_p.Q279*|ZNF180_uc010ejm.3_Nonsense_Mutation_p.Q255*	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CAAAAAGATTGAATACGGTCA	0.358000														61			18		0	0	0.010504	0	0
CNPY2	10330	broad.mit.edu	37	12	56708919	56708919	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:56708919C>G	uc001sku.2	-	1	632	c.83G>C	c.(82-84)tGt>tCt	p.C28S	CNPY2_uc001skv.3_Missense_Mutation_p.C28S	NM_014255	NP_055070	Q9Y2B0	CNPY2_HUMAN	Homo sapiens canopy 2 homolog (zebrafish) (CNPY2), transcript variant 1, mRNA.	28	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						TTTACCTCCACAGTGGAGATC	0.587000														40			22		0	0	0.018920	0	0
DSC3	1825	broad.mit.edu	37	18	28584252	28584252	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:28584252C>T	uc002kwj.4	-	12	2124	c.1969G>A	c.(1969-1971)Ggc>Agc	p.G657S	DSC3_uc002kwi.4_Missense_Mutation_p.G657S	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	657	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCAGCTTGGCCGGCCCTGTCT	0.388000														57			8		0	0	0.006214	0	0
CRNN	49860	broad.mit.edu	37	1	152382652	152382652	+	Silent	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:152382652C>T	uc001ezx.2	-	2	980	c.906G>A	c.(904-906)gtG>gtA	p.V302V		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	302	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGCTCCACGGTCTGGG	0.612000														185			176		0	0	0.014410	0	0
RCOR3	55758	broad.mit.edu	37	1	211462663	211462663	+	Silent	SNP	A	T	T	rs150197033		TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:211462663A>T	uc010psw.2	+	7	1059	c.864A>T	c.(862-864)gcA>gcT	p.A288A	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Silent_p.A288A|RCOR3_uc001hif.3_Silent_p.A288A|RCOR3_uc001hig.3_Silent_p.A230A	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	230	SANT 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ATGTGGTAGCAGTTTCCTGTA	0.418000														56			17		0	0	0.006122	0	0
PRDM10	56980	broad.mit.edu	37	11	129814664	129814664	+	Splice_Site	SNP	A	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr11:129814664A>C	uc001qfm.3	-	6	994	c.762_splice	c.e6+1	p.K254_splice	PRDM10_uc001qfj.3_Splice_Site_p.K168_splice|PRDM10_uc001qfk.3_Splice_Site_p.K168_splice|PRDM10_uc001qfl.3_Splice_Site_p.K168_splice|PRDM10_uc010sbx.2_Splice_Site_p.K168_splice|PRDM10_uc001qfn.3_Splice_Site_p.K254_splice|PRDM10_uc009zct.1_Splice_Site_p.K286_splice	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	254	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AGCATAAATTACCTTGAGGTG	0.512000														68			30		0	0	0.012213	0	0
ADCY9	115	broad.mit.edu	37	16	4016009	4016009	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:4016009C>T	uc002cvx.3	-	10	4368	c.3829G>A	c.(3829-3831)Gag>Aag	p.E1277K		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	1277				QHQLSISPDIRVQVDGSIGRSPTDEIANLVPSVQYVDKTSL GSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCD ETGIEEANELTKLNVSKSV -> APAVHLPRHPRPGGWQHR TVSHRRDCQPGAFCPVCGQDISGF (in Ref. 1; AAC24201).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	p.D1276D(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTGGCAATCTCGTCTGTGGGA	0.592000														32			18		0	0	0.006122	0	0
SLC9C2	284525	broad.mit.edu	37	1	173503740	173503740	+	Silent	SNP	T	G	G			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr1:173503740T>G	uc001giz.2	-	15	2280	c.1857A>C	c.(1855-1857)atA>atC	p.I619I	SLC9C2_uc009wwe.2_Silent_p.I177I|SLC9C2_uc010pmq.1_Intron	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	619					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GATAAATATATATCAAATTTA	0.254000														44			9		0	0	0.004482	0	0
EFCAB5	374786	broad.mit.edu	37	17	28408001	28408001	+	Splice_Site	SNP	T	C	C			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr17:28408001T>C	uc002het.3	+	17	3618	c.3426_splice	c.e17+2	p.Q1142_splice	EFCAB5_uc010cse.3_Splice_Site_p.Q897_splice|EFCAB5_uc010csf.3_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	1142							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCTATCAGGTAAGTCATAGA	0.398000														15			11		0	0	0.020292	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327212	150327212	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:150327212C>T	uc022apv.1	-	1	499	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	GIMAP6_uc003whn.3_Missense_Mutation_p.E7K|GIMAP6_uc003whm.3_Missense_Mutation_p.E7K	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	7							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)		GGAATTTGTTCATATTCTTCT	0.428000														191			9		0	0	0.004482	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56702275	56702275	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr19:56702275C>T	uc010ygh.2	-	2	670	c.670G>A	c.(670-672)Gat>Aat	p.D224N		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	224					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCCTTCAGATCCTTCTCCAAG	0.502000														62			55		0	0	0.014410	0	0
RGPD4	285190	broad.mit.edu	37	2	108489194	108489194	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr2:108489194G>A	uc010ywk.2	+	19	4816	c.4734G>A	c.(4732-4734)ttG>ttA	p.L1578L	RGPD4_uc002tdu.3_Silent_p.L765L|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1578					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATGCATCTTTGAAAAGTAACA	0.353000														142			94		0	0	0.014410	0	0
TEK	7010	broad.mit.edu	37	9	27169478	27169478	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr9:27169478C>T	uc011lno.2	+	3	921	c.479C>T	c.(478-480)tCc>tTc	p.S160F	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.S160F|TEK_uc003zqi.4_Missense_Mutation_p.S160F|TEK_uc011lnp.2_Missense_Mutation_p.S56F|TEK_uc003zqj.1_Missense_Mutation_p.S137F	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	160					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTACTAGGTTCCTTCATCCAT	0.493000														64			117		0	0	0.014410	0	0
MYF6	4618	broad.mit.edu	37	12	81102648	81102648	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr12:81102648C>T	uc001szf.2	+	2	729	c.638C>T	c.(637-639)tCg>tTg	p.S213L		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	213					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TCGTCAGCCTCGAGTAGCCTT	0.542000														77			40		0	0	0.009718	0	0
DDC	1644	broad.mit.edu	37	7	50597007	50597007	+	Silent	SNP	G	A	A			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr7:50597007G>A	uc003tpg.4	-	4	670	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	DDC_uc022ade.1_Silent_p.L79L|DDC_uc003tpf.4_Silent_p.L157L|DDC_uc022adb.1_Silent_p.L119L|DDC_uc022adc.1_Silent_p.L157L|DDC_uc022add.1_Intron|DDC_uc022adf.1_Silent_p.L157L|LOC100129427_uc022adg.1_5'Flank	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	157	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CGAGCGGCCAGCAGGGCCACC	0.547000														45			13		0	0	0.016723	0	0
DNAH5	1767	broad.mit.edu	37	5	13830871	13830886	+	Splice_Site	DEL	GCGTGATGTAACATCT	-	-			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:13830871_13830886delGCGTGATGTAACATCT	uc003jfd.2	-	36	5925	c.5883_splice	c.e36-1	p.R1961_splice		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1961	AAA 1 (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)					GCTTGAGCCAGCGTGATGTAACATCTGCATGGGTAG	0.500									Kartagener syndrome				---	73	---	---	9	---					
HEATR7B2	133558	broad.mit.edu	37	5	41039555	41039555	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr5:41039555delA	uc003jmj.4	-	19	2546	c.2056delT	c.(2056-2058)tgtfs	p.C686fs	HEATR7B2_uc003jmi.4_Frame_Shift_Del_p.C241fs	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	686							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						CTTACCTTACATCGATTCATG	0.323													---	4	---	---	2	---					
BCL11B	64919	broad.mit.edu	37	14	99641544	99641546	+	In_Frame_Del	DEL	CTC	-	-			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr14:99641544_99641546delCTC	uc001yga.3	-	3	1894_1896	c.1627_1629delGAG	c.(1627-1629)gagdel	p.E543del	BCL11B_uc001ygb.3_In_Frame_Del_p.E472del	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	543	Glu-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCAGTAGCAGctcctcctcctcc	0.700			T	TLX3	T-ALL								---	5	---	---	3	---					
ARL6IP1	23204	broad.mit.edu	37	16	18810024	18810024	+	Splice_Site	DEL	G	-	-			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr16:18810024delG	uc002dfl.1	-	2	239	c.170_splice	c.e2+1	p.L57_splice	ARL6IP1_uc010van.1_Splice_Site_p.L28_splice|ARL6IP1_uc010bvz.1_Splice_Site	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	Homo sapiens ADP-ribosylation factor-like 6 interacting protein 1 (ARL6IP1), mRNA.	57						integral to membrane	protein binding			breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						CTCACTTACAGAAACACCAAA	0.418													---	102	---	---	18	---					
KCTD1	284252	broad.mit.edu	37	18	24128262	24128264	+	In_Frame_Del	DEL	TCC	-	-			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chr18:24128262_24128264delTCC	uc010xbj.2	-	0	237_239	c.237_239delGGA	c.(235-240)gaggac>gac	p.E79del	KCTD1_uc002kvw.3_Intron|KCTD1_uc010xbk.2_Intron	NM_001142730	NP_001136202	Q719H9	KCTD1_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 1 (KCTD1), transcript variant 3, mRNA.	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			cccacctccgtcctcctcctcct	0.690													---	4	---	---	2	---					
EFHC2	80258	broad.mit.edu	37	X	44023191	44023191	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DA-A3F5-06A-11D-A20D-08	TCGA-DA-A3F5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14630c19-9ee0-4ab3-9d8b-8c3309d1e7d0	665797b6-021d-4cf4-8be5-138db70b1211	g.chrX:44023191delG	uc004dgb.4	-	13	2214	c.2125delC	c.(2125-2127)caafs	p.Q709fs	EFHC2_uc022bvg.1_Frame_Shift_Del_p.Q287fs	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA.	709							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						GATGCTGGTTGCAATTCAGGC	0.303													---	4	---	---	2	---