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
CDC40	51362	broad.mit.edu	37	6	110536529	110536529	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:110536529T>C	uc003pua.3	+	8	1044	c.983T>C	c.(982-984)tTt>tCt	p.F328S		NM_015891	NP_056975	O60508	PRP17_HUMAN	Homo sapiens cell division cycle 40 homolog (S. cerevisiae) (CDC40), mRNA.	328					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		CTGAGAACATTTATTGGTAAT	0.338000														11			14		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26165018	26165018	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr22:26165018C>T	uc003abz.1	+	3	1385	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	MYO18B_uc003aca.1_Missense_Mutation_p.R260W|MYO18B_uc010guy.1_Missense_Mutation_p.R260W|MYO18B_uc010guz.1_Missense_Mutation_p.R260W|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	379			R -> Q (in a lung small cell carcinoma sample; somatic mutation).			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						AGGTGAGCTTCGGAGCACGAC	0.577000														13			7		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514167	157514167	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:157514167C>T	uc009wsm.3	-	4	887	c.729G>A	c.(727-729)ccG>ccA	p.P243P	FCRL5_uc001fqu.3_Silent_p.P243P|FCRL5_uc010phv.1_Silent_p.P243P|FCRL5_uc010phw.1_Silent_p.P158P|FCRL5_uc001fqv.1_Silent_p.P243P|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	243	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCTGGAAATTCGGGGAGAGAC	0.527000														96			114		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831458	47831458	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr21:47831458T>A	uc002zji.4	+	27	5578	c.5471T>A	c.(5470-5472)cTc>cAc	p.L1824H	PCNT_uc002zjj.3_Missense_Mutation_p.L1706H	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1824					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGCAGCGCCTCCAGGGCGCA	0.692000														19			10		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340573	121340573	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:121340573G>A	uc003eeg.2	+	2	507	c.297G>A	c.(295-297)tgG>tgA	p.W99*		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	99					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCATGGAGTGGAACCGCTGGC	0.582000														46			27		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324855	150324855	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:150324855C>T	uc022apv.1	-	2	1521	c.1041G>A	c.(1039-1041)aaG>aaA	p.K347K	GIMAP6_uc003whn.3_Silent_p.K277K|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	277							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)		CCTCAGATTCCTTCTGGATCT	0.577000														57			21		0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	41016023	41016023	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:41016023T>C	uc003gvn.3	-	5	1042	c.412A>G	c.(412-414)Aaa>Gaa	p.K138E	APBB2_uc003gvl.3_Missense_Mutation_p.K138E|APBB2_uc003gvm.3_Missense_Mutation_p.K138E|APBB2_uc011byt.1_Missense_Mutation_p.K121E	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	138					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TGGGGCTCTTTACCCTCTAAC	0.512000														44			23		0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170695524	170695524	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:170695524G>A	uc001ghf.3	+	2	628	c.581G>A	c.(580-582)gGg>gAg	p.G194E	PRRX1_uc001ghe.3_Missense_Mutation_p.G194E	NM_022716	NP_073207	P54821	PRRX1_HUMAN	Homo sapiens paired related homeobox 1 (PRRX1), transcript variant pmx-1b, mRNA.	194						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCTCCTGGGGGACAGCGTCT	0.567000														43			22		0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100787170	100787170	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:100787170T>C	uc010svi.2	+	3	810	c.497T>C	c.(496-498)tTa>tCa	p.L166S	SLC17A8_uc009ztx.3_Missense_Mutation_p.L166S	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	166					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GCCATCTTCTTAACATCGACT	0.478000														23			14		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304997	10304997	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:10304997C>T	uc002gmm.2	-	22	2889	c.2794G>A	c.(2794-2796)Gag>Aag	p.E932K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	932					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATCTCTTCCTCCTCCTCAGCT	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					154			79		0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191934455	191934455	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:191934455C>T	uc002usm.2	-	5	823	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	STAT4_uc002usn.2_Missense_Mutation_p.E170K|STAT4_uc010zgk.1_Missense_Mutation_p.E15K|STAT4_uc002uso.2_Missense_Mutation_p.E170K	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	170					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TAGTCAAATTCGTCTTGCAGA	0.323000														38			19		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278967	152278967	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:152278967C>T	uc001ezu.1	-	2	8431	c.8395G>A	c.(8395-8397)Ggg>Agg	p.G2799R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2799	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGGTACCCCTGCCTTCCT	0.612000									Ichthyosis					521			134		0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310332	124310332	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:124310332G>A	uc010sal.2	-	0	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAGAGCATAGGAAATGAAGAT	0.483000														26			28		0	0	1	0	0
C2orf61	285051	broad.mit.edu	37	2	47378548	47378548	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:47378548G>A	uc010yog.2	-	2	375	c.248C>T	c.(247-249)cCa>cTa	p.P83L	C2orf61_uc010fbd.3_Non-coding_Transcript|C2orf61_uc002rvs.2_Missense_Mutation_p.P83L	NM_001163561	NP_001157033	Q8N801	CB061_HUMAN	Homo sapiens chromosome 2 open reading frame 61 (C2orf61), transcript variant 1, mRNA.	83								p.P83L(3)|p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CACAAGAGGTGGCTTTTTCCT	0.398000														61			46		0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164466470	164466470	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:164466470G>A	uc002uck.1	-	2	2183	c.1872C>T	c.(1870-1872)atC>atT	p.I624I		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	624						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AAATTACTACGATTTGGTCCT	0.448000														62			24		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101197031	101197031	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:101197031C>T	uc001dti.3	+	5	1703	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	VCAM1_uc010ouj.2_Silent_p.F432F|VCAM1_uc001dtj.3_Silent_p.F402F	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	494	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACATGGAATTCGAACCCAAAC	0.378000														24			19		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31918648	31918648	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:31918648C>T	uc003tcm.2	-	3	847	c.386G>A	c.(385-387)aGc>aAc	p.S129N	PDE1C_uc003tcn.1_Missense_Mutation_p.S129N|PDE1C_uc003tco.2_Missense_Mutation_p.S189N|PDE1C_uc003tcr.3_Missense_Mutation_p.S129N|PDE1C_uc003tcs.3_Missense_Mutation_p.S129N	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	129					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GTGAACGATGCTCTTGAACCG	0.527000														48			21		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47210392	47210392	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:47210392G>A	uc002ion.2	+	0	64	c.5G>A	c.(4-6)gGg>gAg	p.G2E	B4GALNT2_uc010wlt.1_Intron|B4GALNT2_uc010wlu.1_Intron	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	2					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCAGGAATGGGGAGCGCTGGC	0.647000														12			10		0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40895286	40895287	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:40895286_40895287CC>AT	uc003gvn.3	-	10	2026_2027	c.1396_1397GG>AT	c.(1396-1398)gga>ATa	p.G466I	APBB2_uc010ifu.3_Missense_Mutation_p.G37I|APBB2_uc003gvl.3_Missense_Mutation_p.G465I|APBB2_uc003gvm.3_Missense_Mutation_p.G444I|APBB2_uc011byt.1_Missense_Mutation_p.G427I	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	465	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						ACTTACCTCTCCCCAAATCCCG	0.525000														46			29		0	0	1	0	0
B3GALT2	8707	broad.mit.edu	37	1	193149577	193149577	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:193149577C>T	uc021pgr.1	-	0	1116	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S	CDC73_uc001gtb.3_Intron|B3GALT2_uc001gtc.4_Silent_p.S372S	NM_003783	NP_003774	O43825	B3GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 (B3GALT2), mRNA.	372					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						ATTTACAGCTCGAATAAGAGA	0.418000														35			27		0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725661	55725661	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:55725661C>T	uc010spj.2	+	0	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGTATTTCTTCCTCCGGAACT	0.383000														61			31		0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607561	68607561	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:68607561C>T	uc002sen.4	+	1	306	c.144C>T	c.(142-144)atC>atT	p.I48I	PLEK_uc010fde.3_Silent_p.I48I	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	48	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	p.I48I(2)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AAGGAATGATCCCGCTGAAAG	0.468000														30			10		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6977274	6977274	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:6977274G>A	uc001mey.3	+	6	1654	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Missense_Mutation_p.E118K|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	356					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TTCAGAATATGAATATGGGAA	0.338000														24			12		0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18284622	18284622	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:18284622T>A	uc001ipo.2	+	9	1844	c.1571T>A	c.(1570-1572)aTa>aAa	p.I524K	SLC39A12_uc001ipn.2_Missense_Mutation_p.I487K|SLC39A12_uc001ipp.2_Missense_Mutation_p.I523K|SLC39A12_uc010qck.1_Missense_Mutation_p.I390K	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	524					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GAAATGCCTATAGGCAGTATG	0.328000														23			13		0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20129011	20129012	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr22:20129011_20129012CC>TT	uc002zrr.2	+	8	1190_1191	c.1083_1084CC>TT	c.(1081-1086)ttcccc>ttTTcc	p.P362S	ZDHHC8_uc002zrq.3_Missense_Mutation_p.P362S|ZDHHC8_uc010gsa.3_Missense_Mutation_p.P168S	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	362						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGCCGGCTTTCCCCACGGGTCC	0.658000														15			10		0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27457480	27457480	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:27457480G>A	uc003xfy.2	-	6	1161	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	CLU_uc003xfw.2_Silent_p.L327L|CLU_uc003xfx.2_Silent_p.L327L|CLU_uc003xfz.2_Silent_p.L327L	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	327					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	p.L379L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GGGATTCGTCGAGCTCCCGCC	0.552000														13			14		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24511522	24511522	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:24511522A>T	uc003jgr.2	-	5	1422	c.916T>A	c.(916-918)Tac>Aac	p.Y306N	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	306	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATAATTCGGTATTCTACTTCA	0.448000										HNSCC(23;0.051)				55			37		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008739	11008740	+	Nonsense_Mutation	DNP	CC	AT	AT			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:11008739_11008740CC>AT	uc010oao.2	-	11	1452_1453	c.1452_1453GG>AT	c.(1450-1455)tcggag>tcATag	p.E485*	C1orf127_uc001ars.2_Nonsense_Mutation_p.E320*|C1orf127_uc001arr.2_Nonsense_Mutation_p.E328*	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	336								p.S317S(1)|p.S484S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TCTACAGGCTCCGAGGGGAGCG	0.673000														35			31		0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154474155	154474155	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:154474155C>T	uc001ffb.3	-	0	372	c.348G>A	c.(346-348)gcG>gcA	p.A116A	SHE_uc001ffc.3_Non-coding_Transcript|TDRD10_uc001ffd.3_5'Flank|TDRD10_uc009wow.3_5'Flank	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	116										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGCCCTTGCCCGCGGCGGCCT	0.701000														34			8		0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102843271	102843271	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:102843271C>T	uc001ylw.2	+	1	439	c.213C>T	c.(211-213)aaC>aaT	p.N71N	TECPR2_uc010txw.2_Silent_p.N71N|TECPR2_uc010awl.3_Silent_p.N71N|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	71							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGAAGTACAACTTTGAGGTGA	0.522000														13			6		0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85448270	85448270	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:85448270C>T	uc003pkl.1	-	6	1044	c.1044G>A	c.(1042-1044)tgG>tgA	p.W348*	TBX18_uc010kbq.2_Nonsense_Mutation_p.W190*	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	348					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GTGATGGTCGCCAGAATGCAT	0.468000														29			41		0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560645	32560645	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:32560645C>T	uc001wrl.3	+	1	1009	c.770C>T	c.(769-771)cCc>cTc	p.P257L	ARHGAP5_uc001wrm.3_Missense_Mutation_p.P257L|ARHGAP5_uc001wrn.3_Missense_Mutation_p.P257L|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	257					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAAATTATTCCCTATTTGGAT	0.363000														73			29		0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158828698	158828698	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:158828698G>A	uc003woh.3	-	7	940	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	252					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CAGACGGTGGGGAGGCCTGCA	0.612000														23			8		0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651160	1651160	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:1651160C>T	uc001lty.3	+	0	128	c.90C>T	c.(88-90)ggC>ggT	p.G30G	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	30						keratin filament				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)		gctgtggaggctgtggctctg	0.721000														90			10		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882591	228882591	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:228882591C>T	uc002vpq.2	-	6	3026	c.2979G>A	c.(2977-2979)agG>agA	p.R993R	SPHKAP_uc002vpp.2_Silent_p.R993R|SPHKAP_uc010zlx.1_Silent_p.R993R	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	993						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)		GCTTGTGTTTCCTCACAGCGG	0.537000														35			23		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141843	133141843	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:133141843G>A	uc003ytj.3	-	14	2510	c.2285C>T	c.(2284-2286)tCc>tTc	p.S762F	KCNQ3_uc003yti.3_Missense_Mutation_p.S642F|KCNQ3_uc010mdt.3_Missense_Mutation_p.S750F	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	762					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTCAGCCTGGGAGTGGCAGCT	0.602000														23			23		0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058388	67058388	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:67058388G>A	uc003dmy.3	+	3	1438	c.1385G>A	c.(1384-1386)gGt>gAt	p.G462D	KBTBD8_uc011bfv.2_Missense_Mutation_p.G20D	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	462										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GACTACTGGGGTTTCTTAACC	0.358000														37			20		0	0	1	0	0
RAD9B	144715	broad.mit.edu	37	12	110968380	110968380	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:110968380C>A	uc001trf.4	+	10	1314	c.1176C>A	c.(1174-1176)ttC>ttA	p.F392L	RAD9B_uc001trg.4_Missense_Mutation_p.F392L|RAD9B_uc010sya.2_Intron|RAD9B_uc001tre.4_Missense_Mutation_p.F320L|RAD9B_uc001trd.4_Missense_Mutation_p.F234L	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN	Homo sapiens RAD9 homolog B (S. pombe) (RAD9B), mRNA.	389					DNA repair|DNA replication|cell cycle checkpoint	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						AAGAACACTTCAACCACCCTT	0.423000														50			19		1.33834e-09	1.35203e-09	1	1	0
KRT37	8688	broad.mit.edu	37	17	39578598	39578598	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:39578598C>T	uc002hwp.1	-	3	868	c.821G>A	c.(820-822)gGg>gAg	p.G274E		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	274	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CCGCATCTCCCCCAACACCCT	0.572000														75			39		0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912104	87912104	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:87912104A>C	uc022agz.1	-	3	1059	c.836T>G	c.(835-837)tTc>tGc	p.F279C	STEAP4_uc003ujs.3_Missense_Mutation_p.F279C|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	279	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	p.R278P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CCAGTCTGGGAATCGACGGTA	0.478000														26			11		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462668	5462668	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:5462668G>A	uc002gci.3	-	3	1903	c.1348C>T	c.(1348-1350)Ccc>Tcc	p.P450S	NLRP1_uc002gcg.1_Missense_Mutation_p.P450S|NLRP1_uc002gch.4_Missense_Mutation_p.P450S|NLRP1_uc002gck.3_Missense_Mutation_p.P450S|NLRP1_uc002gcj.3_Missense_Mutation_p.P450S|NLRP1_uc002gcl.3_Missense_Mutation_p.P450S|NLRP1_uc010clh.3_Missense_Mutation_p.P450S	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	450	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GATGCCTCGGGAAGTATAGTT	0.582000														16			6		0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9085274	9085274	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:9085274C>T	uc001qvd.3	+	7	1377	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	PHC1_uc001qvc.1_Silent_p.F362F|PHC1_uc010sgn.1_Silent_p.F407F|PHC1_uc001qve.3_Silent_p.F407F	NM_004426	NP_004417	P78364	PHC1_HUMAN	Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA.	407					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						AGCAGCAGTTCCAGCACCGGC	0.582000														45			8		0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54492241	54492241	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chrX:54492241G>A	uc004dtg.3	-	6	2119	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	FGD1_uc011moi.1_Missense_Mutation_p.P220L	NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	462	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTTGAGGAAGGGGGCCAGTTT	0.542000														10			10		0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66838466	66838466	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:66838466C>T	uc001stk.3	-	11	1670	c.1429G>A	c.(1429-1431)Gga>Aga	p.G477R	GRIP1_uc010sta.1_Missense_Mutation_p.G421R|GRIP1_uc001stj.3_Missense_Mutation_p.G259R|GRIP1_uc001stm.3_Missense_Mutation_p.G477R|GRIP1_uc001stl.1_Missense_Mutation_p.G369R	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	529	PDZ 4.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GTTGGAATTCCATTGATGGCC	0.458000														34			20		0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36464552	36464552	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:36464552G>A	uc003omg.3	-	11	1791	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	STK38_uc003omh.3_Silent_p.I401I|STK38_uc003omi.3_Silent_p.I401I	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	401	AGC-kinase C-terminal.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAATGCTTTTGATTTCAATAG	0.373000														34			4		0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19744923	19744923	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:19744923G>A	uc002nnd.3	-	18	2278	c.2161C>T	c.(2161-2163)Ccg>Tcg	p.P721S	GMIP_uc010xrb.2_Missense_Mutation_p.P695S|GMIP_uc010xrc.2_Missense_Mutation_p.P692S	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	721	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCGTCCGGCGGCCGCAGCAGT	0.612000														36			13		0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68587958	68587958	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:68587958G>A	uc003dnd.3	+	3	527	c.311G>A	c.(310-312)gGa>gAa	p.G104E	FAM19A1_uc003dne.3_Missense_Mutation_p.G104E|FAM19A1_uc003dng.3_Missense_Mutation_p.G104E	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	104						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TGCCTAGAAGGAGAAGAATGT	0.428000														24			19		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72134020	72134020	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr13:72134020G>A	uc021rkj.1	-	4	1796	c.1373C>T	c.(1372-1374)cCa>cTa	p.P458L	DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	508					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ATGTGATGATGGGTGACTGCC	0.567000														8			11		0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41515124	41515124	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr13:41515124C>T	uc001uxs.3	-	7	1562	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	ELF1_uc010tfc.2_Missense_Mutation_p.E373K|ELF1_uc010acd.3_Missense_Mutation_p.E290K	NM_172373	NP_758961	P32519	ELF1_HUMAN	Homo sapiens E74-like factor 1 (ets domain transcription factor) (ELF1), transcript variant 1, mRNA.	397					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GCTTCTCCCTCTGGGACAGCC	0.468000														28			19		0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124266544	124266544	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:124266544G>A	uc010saj.2	-	0	704	c.704C>T	c.(703-705)tCa>tTa	p.S235L	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234I(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAAGGCTTTTGATCTTCCTTG	0.378000														23			23		0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74589839	74589839	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:74589839C>T	uc002skx.3	-	29	3865	c.3547G>A	c.(3547-3549)Gcc>Acc	p.A1183T	SLC4A5_uc002skl.3_Non-coding_Transcript|DCTN1_uc002skt.2_Missense_Mutation_p.A117T|DCTN1_uc002skv.3_Missense_Mutation_p.A1049T|DCTN1_uc002sku.3_Missense_Mutation_p.A1044T|DCTN1_uc002skw.2_Missense_Mutation_p.A1176T|DCTN1_uc010ffd.3_Missense_Mutation_p.A1158T|DCTN1_uc002sky.3_Missense_Mutation_p.A1141T	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	1183					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ATAAGTTGGGCCGACGGGCTC	0.567000														12			3		0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509332	105509332	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:105509332T>C	uc003yma.3	-	4	1575	c.1448A>G	c.(1447-1449)gAa>gGa	p.E483G	LRP12_uc003ymb.3_Missense_Mutation_p.E464G|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	483	LDL-receptor class A 5.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGGGCAATTTTCTTCATCGCT	0.448000														58			15		0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123517193	123517193	+	Missense_Mutation	SNP	G	A	A	rs117488620	byFrequency	TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:123517193G>A	uc003vlc.3	+	4	2068	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	HYAL4_uc011knz.2_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	477					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						GCAAGTTATCGAAGCATTCAG	0.393000														60			14		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370097	17370097	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:17370097C>T	uc002nfs.1	-	7	1159	c.1046_splice	c.e7+1	p.S349_splice	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Splice_Site|USHBP1_uc010xpk.1_Splice_Site_p.S285_splice|USHBP1_uc010eam.1_Splice_Site_p.R277_splice	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	349							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGTGCACTGACCTGTACTGCA	0.612000														23			11		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124392850	124392850	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:124392850G>A	uc001lgk.1	+	48	6260	c.6154G>A	c.(6154-6156)Gat>Aat	p.D2052N	DMBT1_uc001lgl.1_Missense_Mutation_p.D2042N|DMBT1_uc001lgm.1_Missense_Mutation_p.D1424N|DMBT1_uc021qaf.1_Missense_Mutation_p.D2052N|DMBT1_uc021qag.1_Missense_Mutation_p.D2042N|DMBT1_uc021qah.1_Missense_Mutation_p.D1424N|DMBT1_uc009xzz.1_Missense_Mutation_p.D2051N|DMBT1_uc010qtx.1_Missense_Mutation_p.D772N|DMBT1_uc009yab.1_Missense_Mutation_p.D755N|DMBT1_uc009yac.1_Missense_Mutation_p.D346N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2052	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GATCTTCAGAGATGTCCAGTA	0.498000														25			9		0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028736	102028736	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:102028736C>T	uc021sdx.1	+	0	1049	c.903C>T	c.(901-903)ccC>ccT	p.P301P	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	275					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GCGCTCGGCCCCGGAGGGTGT	0.602000														32			12		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498504	61498504	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:61498504C>T	uc002jal.4	+	24	5184	c.5161C>T	c.(5161-5163)Cag>Tag	p.Q1721*	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Nonsense_Mutation_p.Q832*	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1721							binding	p.Y1721C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CGGACGCAGCCAGTCAGCATC	0.527000														111			40		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539861	55539861	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:55539861G>A	uc003xsd.1	+	3	3567	c.3419G>A	c.(3418-3420)gGa>gAa	p.G1140E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1140					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AACCTAAAGGGAAGTATGAAT	0.408000														31			26		0	0	1	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242716379	242716379	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:242716379C>T	uc002wcj.1	+	0	140	c.9C>T	c.(7-9)tcC>tcT	p.S3S		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA.	3					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.S3F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		AGATGATGTCCATGCTGGGCG	0.652000														12			5		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139155261	139155261	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:139155261C>T	uc003yuy.3	-	15	3803	c.3632G>A	c.(3631-3633)cGa>cAa	p.R1211Q	FAM135B_uc003yux.3_Missense_Mutation_p.R1112Q|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.R773Q|FAM135B_uc003yvb.3_3'UTR	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1211								p.R1211Q(3)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTACCTAATTCGGGATATGGA	0.393000										HNSCC(54;0.14)				29			10		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72204727	72204727	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr13:72204727C>T	uc021rkj.1	-	2	1516	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	DACH1_uc021rkk.1_Missense_Mutation_p.G365R|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	363	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GAGTCTGCTCCATGTTGGTTA	0.398000														117			64		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761086	121761086	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:121761086G>A	uc003ksw.1	+	4	1248	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.E348K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.E395K|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E42K|SNCAIP_uc010jcx.1_Intron	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	348					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.D347H(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AATTCACGACGAAAATGGAAA	0.438000														53			32		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33630347	33630347	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:33630347C>T	uc021ywr.1	+	7	978	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	252	MIR 3.				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						GGAGAAGTTCCTGACGTGTGA	0.632000														18			8		0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464126	141464126	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:141464126C>T	uc003vwp.1	+	0	230	c.168C>T	c.(166-168)atC>atT	p.I56I		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	Homo sapiens taste receptor, type 2, member 3 (TAS2R3), mRNA.	56					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					TCTTGAGGATCATTCTGCTGT	0.383000														178			61		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21856244	21856244	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:21856244C>T	uc003svc.3	+	64	10544	c.10513C>T	c.(10513-10515)Ccc>Tcc	p.P3505S		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3505	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P3505P(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGTGATAGATCCCCAGCAACA	0.483000									Kartagener syndrome					21			12		0	0	1	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93390343	93390343	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:93390343G>A	uc001kho.3	-	1	427	c.295C>T	c.(295-297)Cat>Tat	p.H99Y		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3C (PPP1R3C), mRNA.	99							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				GAGAAGACATGGATCGCAGTG	0.498000														39			19		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8524946	8524946	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr9:8524946G>A	uc003zkk.3	-	17	1401	c.658C>T	c.(658-660)Cct>Tct	p.P220S	PTPRD_uc003zkp.3_Missense_Mutation_p.P220S|PTPRD_uc003zkq.3_Missense_Mutation_p.P220S|PTPRD_uc003zkr.3_Missense_Mutation_p.P214S|PTPRD_uc003zks.3_Missense_Mutation_p.P214S|PTPRD_uc022bdj.1_Missense_Mutation_p.P217S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	220	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		aaattggcaggagcggaatag	0.512000										TSP Lung(15;0.13)				29			29		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400320	89400320	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:89400320G>A	uc010upo.1	+	11	4878	c.4504G>A	c.(4504-4506)Gga>Aga	p.G1502R	ACAN_uc010upp.1_Missense_Mutation_p.G1502R|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1502					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TTCTGCCTCTGGAATAGAGGA	0.498000														42			21		0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33586576	33586576	+	Silent	SNP	C	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:33586576C>A	uc002hjf.4	+	1	984	c.867C>A	c.(865-867)ctC>ctA	p.L289L	SLFN5_uc002hje.3_Silent_p.L289L|SLFN5_uc010wcg.2_Silent_p.L289L	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	289					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGGGGGCCCTCCGTGGATATG	0.473000														60			45		7.88023e-25	8.14841e-25	1	1	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606443	1606443	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:1606443T>C	uc001ltu.1	-	0	71	c.37A>G	c.(37-39)Agc>Ggc	p.S13G	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	13						keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		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)		CCCCCACAGCTGGAGCCACAG	0.672000														136			6		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17056471	17056471	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:17056471C>T	uc002nfb.3	-	21	2854	c.2822G>A	c.(2821-2823)gGa>gAa	p.G941E		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	894						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ATTTGTGTCTCCGTAAGCAAG	0.567000														56			25		0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143827123	143827123	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:143827123G>A	uc011kua.2	+	0	918	c.918G>A	c.(916-918)aaG>aaA	p.K306K		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CACTGAGGAAGGAGAGGCTGA	0.483000														129			55		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45293285	45293285	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:45293285C>T	uc002ozs.3	+	5	1005	c.942C>T	c.(940-942)acC>acT	p.T314T	CBLC_uc010ejt.3_Silent_p.T268T	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	314	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				ATGGAAAGACCCACAACCCAG	0.612000			M		AML									69			36		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45396351	45396351	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:45396351C>T	uc001zun.3	-	18	2750	c.2547G>A	c.(2545-2547)gtG>gtA	p.V849V	DUOX2_uc010bea.3_Silent_p.V849V	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	849	EF-hand 1.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCATGAAGACCACCAGGATGT	0.542000														28			7		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28672213	28672213	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr18:28672213G>A	uc002kwl.4	-	2	659	c.205C>T	c.(205-207)Cct>Tct	p.P69S	DSC2_uc002kwk.4_Missense_Mutation_p.P69S|DSC2_uc010xbo.1_Missense_Mutation_p.P69S	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	69					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGGAAGTCAGGATCACTTGAA	0.333000														13			20		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8784510	8784510	+	Missense_Mutation	SNP	C	T	T	rs147236744	byFrequency	TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr18:8784510C>T	uc002knr.2	+	5	1542	c.1400C>T	c.(1399-1401)aCg>aTg	p.T467M	SOGA2_uc002knq.2_Missense_Mutation_p.T467M|SOGA2_uc010dkw.1_Missense_Mutation_p.T305M	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	818																	CTAGAGCGGACGGTGGAGCGC	0.677000														146			97		0	0	1	0	0
HILPDA	29923	broad.mit.edu	37	7	128097400	128097400	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:128097400C>T	uc003vne.4	+	1	340	c.78C>T	c.(76-78)tcC>tcT	p.S26S	HILPDA_uc010lli.3_Silent_p.S26S|HILPDA_uc022alc.1_Silent_p.S26S	NM_013332	NP_037464	Q9Y5L2	HIG2_HUMAN	Homo sapiens hypoxia inducible lipid droplet-associated (HILPDA), transcript variant 1, mRNA.	26					autocrine signaling|positive regulation of cell proliferation|response to stress	cell surface|extracellular space|integral to membrane|stored secretory granule	receptor binding										TGATGGAGTCCCTAGAGGGCT	0.542000														58			19		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64515471	64515471	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:64515471G>A	uc001dbj.2	+	2	671	c.272G>A	c.(271-273)tGg>tAg	p.W91*	ROR1_uc001dbi.4_Nonsense_Mutation_p.W91*	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	91	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ACCATCCGCTGGTTCAAAAAT	0.552000														59			44		0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33768044	33768044	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:33768044T>C	uc002hjk.1	-	3	2594	c.2264A>G	c.(2263-2265)aAt>aGt	p.N755S	SLFN13_uc010wch.1_Missense_Mutation_p.N755S|SLFN13_uc002hjl.2_Missense_Mutation_p.N755S|SLFN13_uc002hjm.2_Missense_Mutation_p.N424S|SLFN13_uc010ctt.2_Missense_Mutation_p.N437S	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	755						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATGGGGGATATTAATTGGAGG	0.383000														49			37		0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45644571	45644571	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:45644571C>T	uc001wwd.4	+	13	2713	c.2614C>T	c.(2614-2616)Cac>Tac	p.H872Y	FANCM_uc010anf.3_Missense_Mutation_p.H846Y|FANCM_uc001wwe.4_Missense_Mutation_p.H408Y|FANCM_uc010ang.3_Missense_Mutation_p.H86Y	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	872					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGAAAATAATCACGGTATTAT	0.259000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					36			11		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467279	56467279	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:56467279G>A	uc002qmh.3	+	2	1926	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	NLRP8_uc010etg.3_Missense_Mutation_p.E619K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	619						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AATCCGGGAGGAAGCCTTTGT	0.458000														40			12		0	0	1	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029549	41029549	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:41029549G>T	uc003opl.3	+	1	761	c.614G>T	c.(613-615)tGg>tTg	p.W205L	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	205					DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTTCAGCCCTGGGAGGACATT	0.517000														37			37		5.71845e-15	5.86698e-15	1	1	0
UGT3A2	167127	broad.mit.edu	37	5	36039616	36039616	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:36039616C>T	uc003jjz.2	-	4	1170	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	UGT3A2_uc011cos.2_Silent_p.V312V|UGT3A2_uc011cot.2_Silent_p.V44V	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	346						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACAATTTTCACATTTGCAG	0.532000														47			17		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489159	237489159	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:237489159C>T	uc021vys.1	+	0	51	c.51C>T	c.(49-51)atC>atT	p.I17I	CXCR7_uc010fyq.3_Silent_p.I17I|CXCR7_uc002vwd.3_Silent_p.I17I	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	17					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		TCTCGGACATCAGCTGGCCAT	0.512000														23			11		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122765670	122765670	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:122765670A>G	uc003vkm.3	-	10	1218	c.1193T>C	c.(1192-1194)cTt>cCt	p.L398P	SLC13A1_uc010lks.3_Missense_Mutation_p.L274P	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	398						integral to membrane|plasma membrane	sodium:sulfate symporter activity	p.L398P(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AGCTGGGATAAGAAAGAATAG	0.338000														71			25		0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37904217	37904217	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:37904217A>G	uc002ogj.3	-	8	2347	c.1415T>C	c.(1414-1416)aTa>aCa	p.I472T	ZNF569_uc002ogh.3_Missense_Mutation_p.I289T|ZNF569_uc002ogi.3_Missense_Mutation_p.I448T	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C471F(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGACATCTGTATAAAAGCTTT	0.368000														18			9		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832977	130832977	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:130832977G>A	uc010fmh.2	-	16	2468	c.2068C>T	c.(2068-2070)Ctt>Ttt	p.L690F		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	690						cell cortex	ATP binding	p.N689S(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCCTTTAAAAGATTATCATTC	0.433000														23			14		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945600	144945600	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:144945600C>T	uc003zaa.1	-	0	1835	c.1822G>A	c.(1822-1824)Ggt>Agt	p.G608S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	608						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCCCGTACCCTGCAGGTAC	0.662000														13			5		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756137	71756137	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:71756137G>A	uc003kce.1	-	1	1373	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTCGCACTCGGAGCAGTTGTA	0.602000														12			10		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1058821	1058821	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:1058821C>A	uc002lqw.4	+	38	5513	c.5282C>A	c.(5281-5283)cCc>cAc	p.P1761H	ABCA7_uc002lqy.3_Missense_Mutation_p.P214H|ABCA7_uc010dsc.3_Non-coding_Transcript	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1761					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GTCCCCAGGCCCAGGGTGAGG	0.612000														32			16		6.72482e-11	6.84615e-11	1	1	0
GRID2	2895	broad.mit.edu	37	4	94411887	94411887	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:94411887C>T	uc011cdt.2	+	11	2214	c.1956C>T	c.(1954-1956)ctC>ctT	p.L652L	GRID2_uc011cdu.2_Silent_p.L557L	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	652					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CGGCAAACCTCGCTGCTTTCC	0.453000														43			21		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891674	18891674	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:18891674C>T	uc001rdy.3	+	0	630	c.472C>T	c.(472-474)Cac>Tac	p.H158Y	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	158					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CATTGAAGATCACAACTATGA	0.368000														33			18		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20199629	20199629	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:20199629C>T	uc003sus.4	-	4	664	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	MACC1_uc010kug.3_Missense_Mutation_p.E119K	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	119					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ACATCAAGTTCATCACCGGAG	0.348000														11			6		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10567357	10567357	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:10567357G>A	uc002czw.3	+	7	1607	c.1448G>A	c.(1447-1449)gGa>gAa	p.G483E	ATF7IP2_uc010uyp.2_Missense_Mutation_p.G27E|ATF7IP2_uc002czu.3_Missense_Mutation_p.G483E|ATF7IP2_uc002czv.3_Missense_Mutation_p.G483E|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						ATTACATCAGGAAATTCTAGC	0.269000														28			11		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599542	123599542	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:123599542C>A	uc003vle.3	+	4	1488	c.1049C>A	c.(1048-1050)tCt>tAt	p.S350Y	SPAM1_uc011koa.1_Missense_Mutation_p.S6Y|SPAM1_uc003vld.3_Missense_Mutation_p.S350Y|SPAM1_uc022aks.1_Missense_Mutation_p.S350Y|SPAM1_uc003vlf.4_Missense_Mutation_p.S350Y|SPAM1_uc010lku.3_Missense_Mutation_p.S350Y	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	350					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TTACAGAAATCTTGCTTGCTC	0.338000														22			5		0.014758	0.0148331	1	1	0
PDLIM5	10611	broad.mit.edu	37	4	95575610	95575610	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:95575610G>A	uc003hti.3	+	10	1435	c.1284_splice	c.e10-1	p.R428_splice	PDLIM5_uc011cdx.1_Splice_Site_p.R325_splice|PDLIM5_uc003htj.3_Splice_Site_p.R103_splice|PDLIM5_uc003htk.3_Splice_Site_p.R457_splice|PDLIM5_uc011cdy.2_Splice_Site_p.R306_splice|PDLIM5_uc003hth.3_Splice_Site_p.R319_splice|PDLIM5_uc003htl.3_Splice_Site_p.R103_splice	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	428	LIM zinc-binding 1.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TCTTCTGTCAGAGGACCATTC	0.403000														32			20		0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156451241	156451241	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:156451241A>G	uc003wmo.3	+	6	891	c.661A>G	c.(661-663)Aga>Gga	p.R221G	RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Missense_Mutation_p.R221G|RNF32_uc003wmq.3_Missense_Mutation_p.R221G|RNF32_uc003wmr.3_Missense_Mutation_p.R221G|RNF32_uc003wms.3_Missense_Mutation_p.R221G|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Missense_Mutation_p.R221G	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	221						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGCCAAGTTAAGAAAAAAATT	0.418000														29			7		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104640152	104640152	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:104640152C>T	uc001yos.4	+	9	1977	c.1977C>T	c.(1975-1977)gcC>gcT	p.A659A		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	659	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCTGTCGGCCCTGGGCAGCG	0.706000														29			16		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532199	92532199	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:92532199T>C	uc001pdj.4	+	8	6037	c.6020T>C	c.(6019-6021)gTt>gCt	p.V2007A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2007	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCAATGCAGTTGGAAATCGC	0.423000										TCGA Ovarian(4;0.039)				51			74		0	0	1	0	0
MRPL24	79590	broad.mit.edu	37	1	156708369	156708370	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:156708369_156708370GG>AA	uc001fpw.1	-	1	266_267	c.127_128CC>TT	c.(127-129)cca>TTa	p.P43L	MRPL24_uc001fpx.1_Missense_Mutation_p.P43L	NM_024540	NP_663781	Q96A35	RM24_HUMAN	Homo sapiens mitochondrial ribosomal protein L24 (MRPL24), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	43	Poly-Arg.				translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACAACCACTGGGCGCCGCCTG	0.594000														46			62		0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77082220	77082220	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:77082220C>T	uc002jwv.3	+	13	2029	c.2021C>T	c.(2020-2022)cCg>cTg	p.P674L	ENGASE_uc002jww.3_Missense_Mutation_p.P379L	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	674						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GATGACTCTCCGGGCAGGGAG	0.632000														37			20		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383101	152383101	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:152383101G>A	uc001ezx.2	-	2	531	c.457C>T	c.(457-459)Cag>Tag	p.Q153*		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	153	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)			CCCTGGGTCTGAACCCCAGGC	0.602000														123			155		0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121586700	121586700	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:121586700C>T	uc001leo.3	+	19	3023	c.2807C>T	c.(2806-2808)cCt>cTt	p.P936L	INPP5F_uc001lep.3_Missense_Mutation_p.P326L	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	936							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAGGAGTCTCCTTTGAAGAAA	0.483000														35			21		0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	30008609	30008609	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:30008609C>T	uc011kaa.2	-	1	184	c.135G>A	c.(133-135)ggG>ggA	p.G45G	SCRN1_uc011jzy.2_Intron|SCRN1_uc003tak.3_Silent_p.G25G|SCRN1_uc011jzz.2_Silent_p.G25G|SCRN1_uc010kvp.3_Silent_p.G25G|SCRN1_uc011jzx.2_Intron	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	25					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CTGAATTTTTCCCAAATACCA	0.512000														20			10		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17414565	17414565	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:17414565G>A	uc001mnc.3	-	38	4845	c.4719C>T	c.(4717-4719)ttC>ttT	p.F1573F		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1573	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CGAAGGAGGCGAAGACGCTGT	0.572000														38			19		0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145035897	145035897	+	Silent	SNP	A	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:145035897A>T	uc003ijo.4	-	5	497	c.381T>A	c.(379-381)ccT>ccA	p.P127P	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Silent_p.P94P|GYPA_uc003ijp.4_Silent_p.P95P|GYPA_uc010ioq.3_Silent_p.P114P|GYPA_uc010ior.3_Silent_p.P62P|GYPA_uc010ios.1_Non-coding_Transcript	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	127					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					GTGAGGGGAGAGGTTTTACAT	0.333000														21			11		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377764	50377764	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chrX:50377764G>A	uc004dpe.2	-	3	1335	c.1309C>T	c.(1309-1311)Cca>Tca	p.P437S	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.P321S	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	437					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGTACGGGTGGGAGCTCCATC	0.597000														10			23		0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113857657	113857657	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:113857657C>T	uc010rxb.2	+	6	1374	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	HTR3A_uc010rxa.2_Silent_p.L349L|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.L328L	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	343					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GCCTGCTTGGCTGCGTCACCT	0.592000														13			21		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393349	145393349	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:145393349G>A	uc003lnt.3	+	4	1022	c.784G>A	c.(784-786)Ggt>Agt	p.G262S	SH3RF2_uc011dbl.1_Missense_Mutation_p.G262S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	262							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGAACAAAGGTCGCCAGTC	0.517000														36			13		0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824280	54824280	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr20:54824280C>T	uc002xxb.2	+	0	493	c.381C>T	c.(379-381)tcC>tcT	p.S127S		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	164					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCTGCATCTCCCTGGTGGCCT	0.557000														38			18		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31996586	31996586	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:31996586C>T	uc011dpd.2	+	25	3398	c.3347C>T	c.(3346-3348)tCg>tTg	p.S1116L	C4B_uc011dpe.2_Missense_Mutation_p.S1116L	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1116					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GCTGACGGCTCGTTCCAGGAC	0.602000														114			35		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56307512	56307512	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:56307512C>T	uc010ygf.2	-	7	2987	c.2276G>A	c.(2275-2277)aGg>aAg	p.R759K	NLRP11_uc002qlz.3_Missense_Mutation_p.R606K|NLRP11_uc002qmb.3_Missense_Mutation_p.R660K|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	759							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCCGTCGCTCCTCAGCGGATT	0.493000														61			40		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89923417	89923417	+	Silent	SNP	T	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:89923417T>C	uc003kju.3	+	6	1158	c.1062T>C	c.(1060-1062)atT>atC	p.I354I	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	354	Calx-beta 3.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TACCGGAGATTGCTGAATCGT	0.363000														65			47		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152582002	152582002	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:152582002G>A	uc021vrb.1	-	3	396	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	NEB_uc002txu.3_Missense_Mutation_p.R123C|NEB_uc021vrc.1_Missense_Mutation_p.R123C|NEB_uc010fnx.3_Missense_Mutation_p.R123C|NEB_uc021vrd.1_Missense_Mutation_p.R123C	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	123					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGATTCTGCGAAGTTCTGGA	0.393000														60			40		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907871	12907871	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:12907871T>C	uc010obf.2	-	1	498	c.272A>G	c.(271-273)aAc>aGc	p.N91S	LOC649330_uc009vno.2_Missense_Mutation_p.N91S	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	91							nucleic acid binding|nucleotide binding										GTTTCCTCGGTTCACTTTTGG	0.483000														95			14		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153128167	153128167	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chrX:153128167T>C	uc004fjb.3	-	27	3833	c.3725A>G	c.(3724-3726)gAc>gGc	p.D1242G	L1CAM_uc004fjc.3_Missense_Mutation_p.D1238G|L1CAM_uc010nuo.3_Missense_Mutation_p.D1233G	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	1242					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGAGCTGTCATTGCCCCC	0.607000														17			22		0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145638024	145638024	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:145638024T>G	uc003lnz.4	+	10	1773	c.1607T>G	c.(1606-1608)gTg>gGg	p.V536G	RBM27_uc003lny.2_Missense_Mutation_p.V481G	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	536					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTAACATTGTGATCCAGACT	0.338000														28			17		0	0	1	0	0
RINL	126432	broad.mit.edu	37	19	39361342	39361343	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:39361342_39361343GG>AA	uc010xuo.2	-	7	978_979	c.891_892CC>TT	c.(889-894)gacccg>gaTTcg	p.P298S	RINL_uc002ojq.3_Missense_Mutation_p.P184S|RINL_uc002ojr.1_5'Flank	NM_001195833	NP_001182762	Q6ZS11	RINL_HUMAN	Homo sapiens Ras and Rab interactor-like (RINL), transcript variant 1, mRNA.	184	VPS9.						GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TCCGTGGCCGGGTCCCCAGACC	0.639000														17			14		0	0	1	0	0
ABR	29	broad.mit.edu	37	17	962063	962063	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:962063C>T	uc002fsd.3	-	10	1337	c.1227G>A	c.(1225-1227)aaG>aaA	p.K409K	ABR_uc002fse.3_Silent_p.K363K|ABR_uc010vqg.2_Silent_p.K191K|ABR_uc002fsg.3_Silent_p.K372K|ABR_uc002fsh.1_Intron	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	409	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CAAACATCTTCTTCTTCAGGC	0.572000											OREG0024068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			10		0	0	1	0	0
TPTE2P3	220115	broad.mit.edu	37	13	53106024	53106024	+	RNA	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr13:53106024C>T	uc001vgw.3	+	13		c.1570C>T								Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 3 (TPTE2P3), non-coding RNA.																		TGGATTTGACCTAGACCTCAC	0.289000														26			11		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903688	5903688	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr20:5903688C>T	uc002wmg.3	+	3	1204	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	300						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGGGAGTCTTCCCTCTGAGGA	0.582000														14			6		0	0	1	0	0
SLC25A28	81894	broad.mit.edu	37	10	101370957	101370957	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:101370957G>A	uc001kpx.2	-	3	873	c.744C>T	c.(742-744)ttC>ttT	p.F248F	SLC25A28_uc021pwy.1_Silent_p.F60F|SLC25A28_uc021pwz.1_Silent_p.F93F|SLC25A28_uc001kpy.2_Silent_p.F61F	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	Homo sapiens solute carrier family 25, member 28 (SLC25A28), mRNA.	248					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		GCTCCTGCAGGAATTCATAGG	0.567000														22			10		0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134237731	134237731	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:134237731C>T	uc003yub.3	+	3	815	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	WISP1_uc003yuc.3_Missense_Mutation_p.R150W|WISP1_uc010meb.3_Missense_Mutation_p.R65W|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	237	TSP type-1.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding	p.R237R(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GGTCTCCACTCGGATCTCCAA	0.597000														35			48		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222316	140222316	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:140222316G>A	uc003lhs.2	+	0	1410	c.1410G>A	c.(1408-1410)ccG>ccA	p.P470P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.P470P	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	484	Cadherin 5.				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)			ACAACCCGCCGGGCTGCCACA	0.672000														13			47		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29647298	29647298	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:29647298C>T	uc001bru.3	+	26	3948	c.3819C>T	c.(3817-3819)atC>atT	p.I1273I	PTPRU_uc009vtq.3_Silent_p.I1269I|PTPRU_uc009vtr.3_Silent_p.I1260I|PTPRU_uc001brw.3_Silent_p.I1263I|PTPRU_uc001brx.3_5'UTR	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1273	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCACCTCCATCGTCATGCTCA	0.637000														31			19		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102958733	102958733	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:102958733G>A	uc002tbu.1	+	5	932	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	IL1RL1_uc010ywa.2_Missense_Mutation_p.E104K|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.E221K	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	221	Ig-like C2-type 3.				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						TGCACAAAATGAAATAAAGGA	0.363000														33			9		0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57268478	57268478	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:57268478G>A	uc001xcq.3	-	4	1143	c.869C>T	c.(868-870)tCc>tTc	p.S290F	OTX2_uc001xcp.3_Missense_Mutation_p.S282F|OTX2_uc021rtm.1_Missense_Mutation_p.S112F|OTX2_uc010aou.3_Missense_Mutation_p.S282F	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	282					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTTCCACGAGGATGTCTGATC	0.413000														41			13		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18014233	18014233	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:18014233C>T	uc001ban.3	+	26	3334	c.3175C>T	c.(3175-3177)Ctc>Ttc	p.L1059F	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.L1020F|ARHGEF10L_uc001bao.3_Missense_Mutation_p.L1020F|ARHGEF10L_uc001bap.3_Missense_Mutation_p.L1015F|ARHGEF10L_uc001baq.3_Missense_Mutation_p.L820F|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.L832F|ARHGEF10L_uc001bar.3_Missense_Mutation_p.L762F|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1059					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GACCACCTTCCTCCTGCCAGG	0.627000														13			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641147	179641147	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:179641147C>T	uc021vsy.1	-	27	5669	c.5444G>A	c.(5443-5445)aGa>aAa	p.R1815K	TTN_uc021vsz.1_Missense_Mutation_p.R1769K|TTN_uc021vta.1_Missense_Mutation_p.R1769K|TTN_uc021vtb.1_Missense_Mutation_p.R1769K|TTN_uc002unb.2_Missense_Mutation_p.R1815K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1815							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTCAATTCTCTGTAAGCC	0.408000														59			36		0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134126191	134126191	+	Nonsense_Mutation	SNP	T	G	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:134126191T>G	uc003kzw.3	+	12	1743	c.1575T>G	c.(1573-1575)taT>taG	p.Y525*	DDX46_uc003kzv.1_Non-coding_Transcript	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	525	Helicase ATP-binding.				RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	p.T524S(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGTGACATATGTTGTTTTAG	0.308000														21			19		0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23523952	23523952	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr22:23523952C>T	uc002zww.3	+	0	1401	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	BCR_uc002zwx.3_Missense_Mutation_p.P269S	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	269	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CGGTAGCAGGCCCCCTTGGCC	0.672000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									42			14		0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45907653	45907653	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:45907653A>G	uc001jce.3	+	3	545	c.446A>G	c.(445-447)aAc>aGc	p.N149S	ALOX5_uc009xmt.3_Missense_Mutation_p.N149S|ALOX5_uc010qfg.2_Missense_Mutation_p.N149S|ALOX5_uc021ppr.1_Missense_Mutation_p.N149S	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	149	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	ATGGAGTGGAACCCTGGCTTC	0.498000														27			16		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18022077	18022077	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr22:18022077C>T	uc010gqw.1	+	14	2173	c.2173C>T	c.(2173-2175)Cct>Tct	p.P725S	CECR2_uc010gqv.1_Missense_Mutation_p.P586S|CECR2_uc002zml.2_Missense_Mutation_p.P586S	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	769					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)		ACCAGACTTTCCTGAAAGCTC	0.547000														29			6		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87760750	87760750	+	Splice_Site	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:87760750C>T	uc003ujn.3	+	11	1207	c.992_splice	c.e11+1	p.S331_splice	ADAM22_uc003ujj.2_Missense_Mutation_p.S331L|ADAM22_uc003ujk.2_Splice_Site_p.S331_splice|ADAM22_uc003ujl.2_Splice_Site_p.S331_splice|ADAM22_uc003ujm.3_Splice_Site_p.S331_splice|ADAM22_uc003ujo.3_Splice_Site_p.S331_splice|ADAM22_uc003ujp.1_Splice_Site_p.S383_splice	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	331	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CACCTTTTTTCGTACGTAACT	0.328000														29			18		0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642997	1642997	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:1642997C>T	uc009ycy.1	-	1	309	c.222G>A	c.(220-222)ggG>ggA	p.G74G	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	169	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.S73S(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCACAGCCCCCCTTGGAGC	0.672000														119			10		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120468308	120468308	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:120468308G>A	uc001eik.3	-	24	4428	c.4131C>T	c.(4129-4131)ggC>ggT	p.G1377G		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1377	EGF-like 35.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTGGCACAGCCTGACTCGC	0.652000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					27			51		0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76823355	76823355	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:76823355G>A	uc002jvz.1	-	5	986	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	USP36_uc002jwa.1_Nonsense_Mutation_p.Q221*|USP36_uc002jwd.1_Nonsense_Mutation_p.Q221*	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	221					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAGGCTTTCTGCATGGCGTCG	0.567000														14			7		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112318760	112318761	+	Missense_Mutation	DNP	GG	CT	CT			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:112318760_112318761GG>CT	uc001ebu.1	-	7	2386_2387	c.1906_1907CC>AG	c.(1906-1908)cca>AGa	p.P636R	KCND3_uc001ebv.1_Missense_Mutation_p.P617R	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	636						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.L636F(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GTTGGGGCCTGGGCTGGCAGGG	0.579000														50			24		0	0	1	0	0
C14orf102	55051	broad.mit.edu	37	14	90770342	90770342	+	Silent	SNP	A	G	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:90770342A>G	uc001xyi.2	-	4	1175	c.942T>C	c.(940-942)ttT>ttC	p.F314F	C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.2_Silent_p.F83F	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	314							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		CCCTCCTGTTAAACTCCTCCA	0.537000														69			38		0	0	1	0	0
C12orf53	196500	broad.mit.edu	37	12	6804720	6804720	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:6804720C>T	uc021quc.1	-	4	1042	c.703G>A	c.(703-705)Gga>Aga	p.G235R	C12orf53_uc001qqf.2_Missense_Mutation_p.G235R|C12orf53_uc001qqg.2_Missense_Mutation_p.G235R	NM_001244015	NP_001230944	Q8IYJ0	CL053_HUMAN	Homo sapiens chromosome 12 open reading frame 53 (C12orf53), transcript variant 3, mRNA.	235						integral to membrane				kidney(2)|large_intestine(1)|lung(3)	6						ACAGTGACTCCAGCCGGGGAC	0.701000														54			30		0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102314969	102314969	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:102314969T>G	uc002tbc.3	+	1	470	c.92T>G	c.(91-93)gTt>gGt	p.V31G	MAP4K4_uc002tbf.3_Missense_Mutation_p.V31G|MAP4K4_uc002tbd.3_Missense_Mutation_p.V31G|MAP4K4_uc010yvy.2_Missense_Mutation_p.V31G|MAP4K4_uc002tbh.3_Missense_Mutation_p.V31G|MAP4K4_uc002tbg.3_Missense_Mutation_p.V31G|MAP4K4_uc002tbi.3_Missense_Mutation_p.V31G	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	31	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTGGAAGTGGTTGGAAATGGC	0.478000														220			12		0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283651	40283651	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr22:40283651A>C	uc003ayg.3	-	1	353	c.102T>G	c.(100-102)agT>agG	p.S34R		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	34	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ACATCAGAGAACTAGAGGGAC	0.408000														57			34		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21078705	21078705	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:21078705C>T	uc010vbe.2	-	23	3417	c.3417G>A	c.(3415-3417)caG>caA	p.Q1139Q		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1139	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCATCCGTGGCTGGTCGGCTG	0.458000														34			20		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581283	140581283	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:140581283G>A	uc003liy.3	+	0	1936	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	646	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTCAAGGACAATGGCGA	0.711000														35			18		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102534	168102534	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:168102534G>A	uc002udx.3	+	8	4721	c.4632G>A	c.(4630-4632)aaG>aaA	p.K1544K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K1369K|XIRP2_uc010fpq.3_Silent_p.K1322K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1369					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						GAGTAGAAAAGATAGAAATTA	0.358000														30			16		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220342491	220342491	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:220342491C>T	uc010fwg.3	+	20	4810	c.4810C>T	c.(4810-4812)Cac>Tac	p.H1604Y		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1604	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TTATGACATCCACCAGGAGAT	0.622000														27			11		0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45880325	45880325	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:45880325C>T	uc010rgn.2	+	2	453	c.431C>T	c.(430-432)cCc>cTc	p.P144L	CRY2_uc009ykw.3_Missense_Mutation_p.P62L	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	123	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GACTCTGAACCCTTTGGGAAA	0.527000														15			11		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700666	136700666	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:136700666C>T	uc003vtf.1	+	3	1677	c.1054C>T	c.(1054-1056)Cag>Tag	p.Q352*	CHRM2_uc003vtg.1_Nonsense_Mutation_p.Q352*|CHRM2_uc003vti.1_Nonsense_Mutation_p.Q352*|CHRM2_uc003vtm.1_Nonsense_Mutation_p.Q352*|CHRM2_uc003vtj.1_Nonsense_Mutation_p.Q352*|CHRM2_uc003vtk.1_Nonsense_Mutation_p.Q352*|CHRM2_uc003vtl.1_Nonsense_Mutation_p.Q352*|CHRM2_uc003vtn.1_Nonsense_Mutation_p.Q352*|CHRM2_uc003vto.1_Nonsense_Mutation_p.Q352*|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Nonsense_Mutation_p.Q352*	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	352					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GTCTTCAGGTCAGAATGGAGA	0.463000														60			25		0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27212479	27212479	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:27212479G>A	uc001bnd.1	-	2	996	c.714C>T	c.(712-714)atC>atT	p.I238I	BC016143_uc021ojq.1_Intron	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN	Homo sapiens GPN-loop GTPase 2 (GPN2), mRNA.	238							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						TGTTGAGAGGGATAAAGGAGA	0.507000														36			19		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087970	92087970	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:92087970G>A	uc001pdj.4	+	0	2709	c.2692G>A	c.(2692-2694)Gcc>Acc	p.A898T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	898	Cadherin 8.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.T898I(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAATCCAAAGCCAATTATTC	0.418000										TCGA Ovarian(4;0.039)				70			29		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117923448	117923448	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:117923448G>A	uc001two.2	-	14	2236	c.2181C>T	c.(2179-2181)atC>atT	p.I727I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	756	Protein kinase.				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)					CATCCAAAACGATTTTGGCAT	0.453000														26			16		0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433564	55433564	+	Missense_Mutation	SNP	G	A	A	rs148830288	byFrequency	TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:55433564G>A	uc010rik.2	+	0	922	c.922G>A	c.(922-924)Ggg>Agg	p.G308R		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGCTTTGGCTGGGAAATAACT	0.418000														22			13		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39175958	39175958	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr9:39175958C>A	uc004abi.3	-	6	1298	c.1059G>T	c.(1057-1059)caG>caT	p.Q353H	CNTNAP3_uc004abj.3_Missense_Mutation_p.Q353H|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.Q353H|CNTNAP3_uc011lqs.1_Missense_Mutation_p.Q353H	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	353	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCATGAGGATCTGTGGTTTGT	0.353000														340			16		4.47668e-21	4.61694e-21	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64587767	64587767	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:64587767C>T	uc001xgl.3	+	67	13376	c.13146C>T	c.(13144-13146)ttC>ttT	p.F4382F	SYNE2_uc001xgm.3_Silent_p.F4382F|SYNE2_uc021ruh.1_Silent_p.F4397F|SYNE2_uc010apy.3_Silent_p.F767F|SYNE2_uc010apz.1_Silent_p.F274F	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4382					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAAAGATTTCCAGCAGCAAC	0.443000														40			13		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76744460	76744460	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:76744460G>A	uc003pik.1	-	2	476	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	116					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCAGGGATGCGATCCAGAAAG	0.502000														19			31		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22294440	22294440	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:22294440A>T	uc001mqi.2	+	18	2457	c.2140A>T	c.(2140-2142)Act>Tct	p.T714S	ANO5_uc001mqj.2_Missense_Mutation_p.T713S	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	714						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAAACTTACCACTCAATACAG	0.398000														35			19		0	0	1	0	0
ZNF586	54807	broad.mit.edu	37	19	58290772	58290772	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:58290772C>T	uc002qqd.3	+	2	1008	c.817C>T	c.(817-819)Cga>Tga	p.R273*	ZNF587_uc002qqb.2_Intron|ZNF586_uc010euh.3_Nonsense_Mutation_p.R230*|ZNF586_uc002qqe.3_3'UTR|ZNF586_uc002qqf.2_Intron	NM_017652	NP_001191743	Q9NXT0	ZN586_HUMAN	Homo sapiens zinc finger protein 586 (ZNF586), transcript variant 1, mRNA.	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCATTTCGCCGAAGCTCTTC	0.428000														22			14		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141059843	141059844	+	Silent	DNP	GG	AA	AA			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:141059843_141059844GG>AA	uc003llm.3	-	1	288_289	c.210_211CC>TT	c.(208-213)tccctg>tcTTtg	p.70_71SL>SL	ARAP3_uc003lln.3_5'UTR|ARAP3_uc003llo.1_Silent_p.70_71SL>SL	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	70					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTGGGATCCAGGGAGCCCTCTT	0.644000														59			10		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10426472	10426472	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:10426472G>A	uc010coi.3	-	38	5736	c.5608C>T	c.(5608-5610)Ctt>Ttt	p.L1870F	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.L1870F|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1870					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAATCTTGAAGCCTGAGAATA	0.338000														27			4		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96875192	96875192	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:96875192G>A	uc001yfn.2	+	3	456	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	138					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AGCACTCAGTGAAGAAGTCAG	0.478000														15			7		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25994344	25994344	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:25994344G>A	uc002rgs.2	-	4	690	c.469C>T	c.(469-471)Cca>Tca	p.P157S	ASXL2_uc002rgt.1_5'UTR	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	157	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTGTGATGGAGAAATGACT	0.433000														9			7		0	0	1	0	0
LOC338651	338651	broad.mit.edu	37	11	1619556	1619556	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:1619556T>C	uc009ycx.1	+	1	1407	c.656T>C	c.(655-657)cTg>cCg	p.L219P	MOB2_uc001ltq.2_Intron|LOC338651_uc001ltt.1_Non-coding_Transcript|KRTAP5-2_uc001ltv.3_5'Flank					Homo sapiens uncharacterized LOC338651 (LOC338651), non-coding RNA.																		TCCCTGAGCCTGGGCTCTTTA	0.522000														95			15		0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41515131	41515131	+	Silent	SNP	A	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr13:41515131A>T	uc001uxs.3	-	7	1555	c.1182T>A	c.(1180-1182)gcT>gcA	p.A394A	ELF1_uc010tfc.2_Silent_p.A370A|ELF1_uc010acd.3_Silent_p.A287A	NM_172373	NP_758961	P32519	ELF1_HUMAN	Homo sapiens E74-like factor 1 (ets domain transcription factor) (ELF1), transcript variant 1, mRNA.	394					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CCTCTGGGACAGCCTGTACTG	0.473000														30			19		0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90577400	90577400	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:90577400C>T	uc003pnr.3	+	7	4587	c.4391C>T	c.(4390-4392)tCg>tTg	p.S1464L	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.S1464L|CASP8AP2_uc011dzz.2_Missense_Mutation_p.S1464L	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	1464					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CCTGATATGTCGTCCAGTTCA	0.408000														3			15		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582728	55582728	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:55582728C>T	uc010qhy.1	-	34	5174	c.4779G>A	c.(4777-4779)agG>agA	p.R1593R	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.R1588R|PCDH15_uc021pqz.1_Silent_p.R1563R|PCDH15_uc010qhv.1_Silent_p.R1583R|PCDH15_uc010qhw.1_Silent_p.R1546R|PCDH15_uc010qhx.1_Silent_p.R1517R|PCDH15_uc010qhz.1_Silent_p.R1588R|PCDH15_uc010qia.1_Silent_p.R1566R|PCDH15_uc001jju.1_Silent_p.R1586R|PCDH15_uc010qib.1_Silent_p.R1563R	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1586					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGGAACTTTCCTCATCAGCC	0.468000										HNSCC(58;0.16)				50			40		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92456771	92456771	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:92456771C>T	uc001dol.4	+	13	2451	c.2033C>T	c.(2032-2034)cCa>cTa	p.P678L	BRDT_uc010osz.2_Missense_Mutation_p.P682L|BRDT_uc001dok.4_Missense_Mutation_p.P678L|BRDT_uc009wdf.3_Missense_Mutation_p.P605L|BRDT_uc010otb.2_Missense_Mutation_p.P632L|BRDT_uc010ota.2_Missense_Mutation_p.P632L|BRDT_uc001dom.4_Missense_Mutation_p.P678L	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	678					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GAAGTAAAACCAAATGATTCT	0.249000														5			5		0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212840	131212840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chrX:131212840G>A	uc004ewn.3	-	11	1383	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	FRMD7_uc022cdy.1_Missense_Mutation_p.P282L|FRMD7_uc011muy.2_Missense_Mutation_p.P387L	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	402					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TAGCAATGTGGGATCCGCCTC	0.498000														41			49		0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	107013044	107013044	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:107013044C>T	uc003vec.2	-	7	1449	c.924G>A	c.(922-924)gtG>gtA	p.V308V	COG5_uc003ved.2_Silent_p.V308V|COG5_uc003vee.2_Silent_p.V308V	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	308					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CCATACCTCTCACAGCTGACT	0.333000														29			12		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93806473	93806473	+	Splice_Site	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:93806473G>A	uc001pep.2	+	8	1530	c.1373_splice	c.e8-1	p.G458_splice	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	458	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TATTTTTTCAGGCCCAGTCAT	0.433000														7			12		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007904	6007904	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:6007904G>A	uc001mcd.2	-	0	312	c.257C>T	c.(256-258)gCc>gTc	p.A86V		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGTCGATGGCAGCTAGCAT	0.527000														12			8		0	0	1	0	0
HSP90AB4P	664618	broad.mit.edu	37	15	58985280	58985280	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:58985280G>A	uc002afh.1	-	0	45	c.45C>T	c.(43-45)ttC>ttT	p.F15F	ADAM10_uc002afd.1_Intron|ADAM10_uc010bgc.1_Intron|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron					Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 4, pseudogene (HSP90AB4P), non-coding RNA.																		ACTCCTGAAGGAAAATCTCCT	0.443000														32			11		0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105561083	105561083	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:105561083G>A	uc001kxj.1	-	1	250	c.110C>T	c.(109-111)tCc>tTc	p.S37F		NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	37	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GATAGTCTGGGAGGTGGAGTC	0.527000														19			15		0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188956652	188956652	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:188956652C>T	uc003frv.2	+	8	1660	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	TPRG1_uc003frw.2_Missense_Mutation_p.R145C	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	145								p.R145C(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CGCTGTCTATCGCATCTGCCT	0.498000														32			20		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50432657	50432657	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr18:50432657G>A	uc002lfe.2	+	2	1272	c.656G>A	c.(655-657)aGc>aAc	p.S219N	DCC_uc010xdr.1_Missense_Mutation_p.S67N	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	219	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AATCCAGCCAGCTCAAGAACA	0.463000														54			5		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2613203	2613203	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:2613203G>A	uc003bpc.3	+	3	355	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.E6K|CNTN4_uc003bpd.1_Missense_Mutation_p.E6K	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	6					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTTGCCATGGGAACTGCTGGT	0.368000														28			11		0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156757976	156757976	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:156757976C>T	uc003ipe.1	-	7	1147	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	367						integral to membrane|plasma membrane											GTTATGTGTTCCTACTGTACA	0.353000														25			15		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100193315	100193316	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:100193315_100193316GG>AA	uc011kjz.1	+	7	1374_1375	c.1306_1307GG>AA	c.(1306-1308)ggg>AAg	p.G436K	FBXO24_uc003uvl.1_3'UTR|FBXO24_uc003uvm.1_Missense_Mutation_p.G398K|FBXO24_uc003uvn.1_Missense_Mutation_p.G93K|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.G386K|LOC100129845_uc022air.1_Intron	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	398						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AATGGACCGAGGGGAACCCACA	0.515000														23			11		0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31344159	31344159	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:31344159G>A	uc001wqr.2	+	1	95	c.15G>A	c.(13-15)tgG>tgA	p.W5*	COCH_uc001wqp.2_Nonsense_Mutation_p.W5*|COCH_uc001wqq.4_Nonsense_Mutation_p.W5*	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	5					sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CCGCAGCCTGGATCCCGGCTC	0.701000														29			21		0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155261669	155261669	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:155261669G>A	uc001fkb.4	-	9	1535	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F	PKLR_uc001fka.4_Missense_Mutation_p.S468F	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	499					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.S499F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGCCTGGGCAGAGCGGGTGAC	0.602000														78			26		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324264	161324264	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:161324264G>A	uc010jiw.3	+	10	1675	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	GABRA1_uc010jix.3_Missense_Mutation_p.E403K|GABRA1_uc010jiy.3_Missense_Mutation_p.E403K|GABRA1_uc003lyx.4_Missense_Mutation_p.E403K|GABRA1_uc010jiz.3_Missense_Mutation_p.E403K|GABRA1_uc010jja.3_Missense_Mutation_p.E403K|GABRA1_uc010jjb.3_Missense_Mutation_p.E403K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	403					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.E403K(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GGTCAAGCCCGAAACAAAACC	0.473000														70			25		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974272	16974272	+	RNA	SNP	A	G	G	rs140344087		TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:16974272A>G	uc009vow.2	+	4		c.1082A>G			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		ATCTCGGTCCATCTAAGGGTC	0.647000														48			6		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65495802	65495802	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:65495802G>A	uc002aon.2	-	6	1107	c.926C>T	c.(925-927)cCa>cTa	p.P309L		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	309	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CACCATGTATGGAGTCTCTGG	0.493000														31			12		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10253931	10253931	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:10253931C>T	uc002gmk.1	-	11	1176	c.1086G>A	c.(1084-1086)ggG>ggA	p.G362G	MYH13_uc010vvf.1_Silent_p.G37G	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	362	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACTTCATGTTCCCATAATGCA	0.517000														71			33		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79469075	79469075	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr9:79469075G>A	uc010mpk.3	-	1	210	c.86C>T	c.(85-87)tCg>tTg	p.S29L	PRUNE2_uc022bih.1_5'UTR|PRUNE2_uc004akn.3_Missense_Mutation_p.S29L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	29					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAAGTCACACGATTTAGGCCC	0.358000														21			6		0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71235360	71235360	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:71235360C>T	uc003pfj.3	+	12	2706	c.2573C>T	c.(2572-2574)tCt>tTt	p.S858F	FAM135A_uc003pfi.3_Missense_Mutation_p.S662F|FAM135A_uc003pfh.3_Missense_Mutation_p.S645F|FAM135A_uc003pfl.3_Missense_Mutation_p.S525F|FAM135A_uc003pfn.3_Intron|FAM135A_uc003pfo.1_Missense_Mutation_p.S229F|FAM135A_uc010kan.2_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	858										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TCTAAGAAATCTGTTGTACCT	0.353000														23			7		0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46580620	46580620	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:46580620G>A	uc010hji.3	-	3	798	c.405C>T	c.(403-405)atC>atT	p.I135I	LRRC2_uc003cpu.4_Silent_p.I135I	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	Homo sapiens leucine rich repeat containing 2 (LRRC2), mRNA.	135										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ATGTAGGAATGATTTGAATCA	0.378000														38			20		0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95926868	95926868	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:95926868A>G	uc001teg.3	-	1	1309	c.1165T>C	c.(1165-1167)Ttc>Ctc	p.F389L	USP44_uc001teh.3_Missense_Mutation_p.F389L|USP44_uc009zte.3_Missense_Mutation_p.F386L	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	389					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						ATGACTTGGAACAAAGTATGC	0.448000														74			3		0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6312292	6312292	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:6312292G>A	uc002mel.2	-	2	296	c.218C>T	c.(217-219)tCc>tTc	p.S73F		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	73						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GAAATACATGGAGAACAGGCC	0.627000														64			26		0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431806	56431806	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:56431806C>T	uc010rjm.2	+	0	645	c.645C>T	c.(643-645)ttC>ttT	p.F215F	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCATCATCTTCATCTCCTATA	0.488000														48			35		0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8726743	8726743	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:8726743C>T	uc002glq.1	-	13	1827	c.1587G>A	c.(1585-1587)atG>atA	p.M529I	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	529					platelet activation	cytosol											GTTGGGTGCCCATGCGGATGT	0.552000														15			9		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099105	168099105	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:168099105C>T	uc002udx.3	+	8	1292	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.F226F|XIRP2_uc010fpq.3_Silent_p.F179F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	226					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						AAGAGACTTTCAAGCCATCAT	0.423000														59			25		0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571180	71571180	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:71571180C>T	uc021tkt.1	+	0	600	c.600C>T	c.(598-600)atC>atT	p.I200I	CHST4_uc002fan.3_Silent_p.I200I|CHST4_uc002fao.3_Silent_p.I200I	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	200					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACCTGCATATCGTGCACCTGG	0.607000														18			20		0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23523425	23523425	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:23523425C>T	uc001wil.3	-	5	1157	c.897G>A	c.(895-897)ctG>ctA	p.L299L	CDH24_uc010akf.3_Silent_p.L299L|CDH24_uc001win.3_Silent_p.L299L	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	299	Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCTCCCCATCCAGGATGCTGT	0.632000														72			70		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751462	19751462	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr13:19751462G>T	uc009zzj.3	-	3	766	c.661C>A	c.(661-663)Cgt>Agt	p.R221S		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	221					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TACGTGGGACGCTCGATGTCC	0.562000														109			5		0.217242	0.217794	1	1	0
FAM123C	205147	broad.mit.edu	37	2	131520647	131520647	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:131520647G>A	uc021voy.1	+	0	1002	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G	FAM123C_uc002trw.2_Silent_p.G334G|FAM123C_uc010fmv.2_Silent_p.G334G|FAM123C_uc010fms.1_Silent_p.G334G|FAM123C_uc010fmt.1_Silent_p.G334G|FAM123C_uc010fmu.1_Silent_p.G334G	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	334										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GCCCCCAGGGGACAGACAGGG	0.652000														31			21		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595241	82595241	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:82595241C>T	uc003uhx.2	-	3	4152	c.3863G>A	c.(3862-3864)gGg>gAg	p.G1288E	PCLO_uc003uhv.2_Missense_Mutation_p.G1288E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1227					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						TGGTTGTTTCCCTTCTTGCAC	0.413000														45			24		0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944192	55944192	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:55944192G>A	uc010rjb.2	+	0	99	c.99G>A	c.(97-99)gtG>gtA	p.V33V		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TGTTCCTGGTGATTTACGCCA	0.398000														87			45		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140228398	140228398	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:140228398G>A	uc003lhu.2	+	0	1042	c.318G>A	c.(316-318)ctG>ctA	p.L106L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.L106L	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	121	Cadherin 1.				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)			GCATCCACCTGGAGGTGATCG	0.547000														20			26		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34276407	34276407	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:34276407G>A	uc001bxm.1	-	9	1560	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	CSMD2_uc001bxn.1_Silent_p.F421F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	421	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACTGAATGGGGAAATTGGGGG	0.547000														47			31		0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794908	55794908	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:55794908T>C	uc010spl.2	+	0	596	c.596T>C	c.(595-597)tTg>tCg	p.L199S		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ATGGCATTTTTGCTAGCAGTA	0.438000														86			59		0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32097592	32097592	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:32097592A>C	uc001ivz.1	-	18	2621	c.2351T>G	c.(2350-2352)tTc>tGc	p.F784C	ARHGAP12_uc001ivy.1_Missense_Mutation_p.F730C|ARHGAP12_uc009xls.2_Missense_Mutation_p.F735C|ARHGAP12_uc001iwb.1_Missense_Mutation_p.F777C|ARHGAP12_uc001iwc.1_Missense_Mutation_p.F752C|ARHGAP12_uc009xlq.1_Missense_Mutation_p.F705C|ARHGAP12_uc001ivw.1_5'Flank|ARHGAP12_uc001ivx.1_Missense_Mutation_p.F83C	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	784	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.F784S(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GAGATGTCGGAAAAGAATCTG	0.507000														60			46		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78325563	78325563	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:78325563C>T	uc002jyh.2	+	32	10553	c.10410C>T	c.(10408-10410)tcC>tcT	p.S3470S	RNF213_uc021uen.1_Silent_p.S3421S	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAAAACTGTCCCGGGTGGGAA	0.343000														30			12		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20849176	20849176	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:20849176G>A	uc001vxe.3	-	32	4716	c.4676C>T	c.(4675-4677)tCg>tTg	p.S1559L	TEP1_uc010ahk.3_Missense_Mutation_p.S902L|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.S1451L|TEP1_uc010tlh.1_5'UTR	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1559					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AAGGAACTTCGAAAGAAGTCC	0.522000														20			15		0	0	1	0	0
TRIM26	7726	broad.mit.edu	37	6	30164453	30164453	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:30164453C>T	uc003npr.3	-	4	814	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	TRIM26_uc003nps.3_Missense_Mutation_p.R202Q|TRIM26_uc003npt.3_Missense_Mutation_p.R202Q|TRIM26_uc010jry.3_5'UTR	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	202							DNA binding|zinc ion binding	p.R202Q(3)		lung(1)|ovary(2)	3						GTGTTCCTCCCGCTCCCTCAG	0.632000														95			4		0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47684587	47684587	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:47684587C>T	uc001ngg.3	-	17	2828	c.2526G>A	c.(2524-2526)ggG>ggA	p.G842G	AGBL2_uc001ngf.3_Non-coding_Transcript	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	842					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CCTGCATTCTCCCTTTATTCT	0.363000														63			42		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95169418	95169418	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:95169418C>T	uc001kin.3	-	5	635	c.512G>A	c.(511-513)gGg>gAg	p.G171E	MYOF_uc001kio.3_Missense_Mutation_p.G171E|MYOF_uc001kip.4_Missense_Mutation_p.G171E|MYOF_uc009xuf.2_Missense_Mutation_p.G153E	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	171					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CGACACCGTCCCAACTGGCCC	0.547000														177			89		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306778	41306778	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr20:41306778G>A	uc002xkg.3	-	6	1065	c.881C>T	c.(880-882)cCc>cTc	p.P294L	PTPRT_uc010ggj.3_Missense_Mutation_p.P294L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	294	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.P294L(2)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGCTCTGGGGGAGCAATGGG	0.512000														10			11		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77387725	77387725	+	Missense_Mutation	SNP	G	A	A	rs147429761		TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:77387725G>A	uc002ffc.4	-	9	1938	c.1519C>T	c.(1519-1521)Ccg>Tcg	p.P507S	ADAMTS18_uc010chc.1_Missense_Mutation_p.P95S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.P203S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	507	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGTTTGTCCGGATATTTATAC	0.433000														37			27		0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548823	158548823	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:158548823G>A	uc010pin.2	-	0	867	c.867C>T	c.(865-867)gtC>gtT	p.V289V		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	289					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)					CAGTATAAGGGACTGCTATGA	0.443000														68			35		0	0	1	0	0
PPYR1	5540	broad.mit.edu	37	10	47087905	47087905	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:47087905C>T	uc001jee.3	+	2	1541	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.P374P|PPYR1_uc021ppu.1_Silent_p.P374P	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	374					blood circulation|digestion|feeding behavior	integral to plasma membrane		p.P374L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGTCCAATCCCATTTAACCAG	0.587000														46			11		0	0	1	0	0
CCDC51	79714	broad.mit.edu	37	3	48475220	48475220	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:48475220A>G	uc003ctc.3	-	2	406	c.374T>C	c.(373-375)gTt>gCt	p.V125A	CCDC51_uc021wxn.1_Missense_Mutation_p.V16A|CCDC51_uc003ctd.3_Missense_Mutation_p.V16A	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN	Homo sapiens coiled-coil domain containing 51 (CCDC51), mRNA.	125						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCCTGGTGAACTTCCAAGTC	0.577000														56			34		0	0	1	0	0
SECTM1	6398	broad.mit.edu	37	17	80280114	80280114	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:80280114C>T	uc002keo.3	-	4	1068	c.670G>A	c.(670-672)Gtg>Atg	p.V224M		NM_003004	NP_002995	Q8WVN6	SCTM1_HUMAN	Homo sapiens secreted and transmembrane 1 (SECTM1), mRNA.	224					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|extracellular space|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GGTTTGAACACCAGTGCCAGC	0.652000														36			18		0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142586826	142586826	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:142586826C>T	uc011dbj.2	+	20	2087	c.2052C>T	c.(2050-2052)tcC>tcT	p.S684S	ARHGAP26_uc003lmt.3_Silent_p.S684S|ARHGAP26_uc003lmw.3_Intron	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	684	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGCGCCATCCAGCCCTATGC	0.557000														48			29		0	0	1	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67478535	67478535	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:67478535A>C	uc010vjo.1	-	3	600	c.500T>G	c.(499-501)gTg>gGg	p.V167G	ATP6V0D1_uc002ete.1_Missense_Mutation_p.V126G|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.V49G	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	126					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GCACTTGGGCACGAGCTCAGC	0.567000														22			8		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784956	9784956	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:9784956G>A	uc003gmb.4	+	0	1699	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	435					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGGTCCTTTCGATCGCATGTT	0.557000														25			12		0	0	1	0	0
ANKRD1	27063	broad.mit.edu	37	10	92678945	92678945	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:92678945C>T	uc001khe.1	-	2	536	c.288G>A	c.(286-288)agG>agA	p.R96R		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	Homo sapiens ankyrin repeat domain 1 (cardiac muscle) (ANKRD1), mRNA.	96					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TGTATTTTTTCCTTTTCTTCA	0.303000														17			5		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389530	20389530	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:20389530C>T	uc010tkw.2	+	0	765	c.765C>T	c.(763-765)atC>atT	p.I255I		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I255T(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACCTTGCATCTTCATCTATG	0.403000														122			36		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29142232	29142232	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:29142232T>C	uc011dlm.2	+	0	922	c.820T>C	c.(820-822)Ttc>Ctc	p.F274L		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCAGGGCAAGTTCATTGCCCT	0.438000														119			38		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50734090	50734090	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr18:50734090G>A	uc002lfe.2	+	10	2380	c.1764G>A	c.(1762-1764)ctG>ctA	p.L588L	DCC_uc010xdr.1_Silent_p.L436L|DCC_uc010dpf.2_Silent_p.L243L	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	588	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGAAGGCCTGAAAAAATTCA	0.383000														56			5		0	0	1	0	0
LPL	4023	broad.mit.edu	37	8	19805727	19805727	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:19805727C>T	uc003wzk.4	+	1	495	c.125C>T	c.(124-126)gCc>gTc	p.A42V		NM_000237	NP_000228	P06858	LIPL_HUMAN	Homo sapiens lipoprotein lipase (LPL), mRNA.	42					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	AGTAAATTTGCCCTAAGGACC	0.438000														17			25		0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98254243	98254243	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:98254243C>T	uc003upl.2	+	2	830	c.653C>T	c.(652-654)gCc>gTc	p.A218V		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	218					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GGCAATAGCGCCTTTAAGTCA	0.587000														147			69		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25270422	25270422	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr22:25270422G>A	uc003abg.2	+	12	1489	c.1332G>A	c.(1330-1332)gtG>gtA	p.V444V	SGSM1_uc010guu.1_Intron|SGSM1_uc003abh.2_Silent_p.V444V|SGSM1_uc003abj.2_Intron|SGSM1_uc003abi.1_Intron	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	444						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CCGTCTCTGTGGGCCCTGCCT	0.617000														14			13		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74006208	74006208	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:74006208G>A	uc010wss.1	-	21	3372	c.3144C>T	c.(3142-3144)ccC>ccT	p.P1048P	EVPL_uc002jqi.2_Silent_p.P1026P|EVPL_uc010wst.1_Silent_p.P496P	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1026	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGTCCAGGCCGGGGTCCCTCT	0.647000														79			28		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141730243	141730243	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:141730243G>A	uc003vwy.3	+	10	1357	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	435	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGCTTCCCTGAATTTGTCAA	0.383000														29			9		0	0	1	0	0
FAM169B	283777	broad.mit.edu	37	15	98995080	98995080	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:98995080G>A	uc002buk.1	-	4	594	c.344C>T	c.(343-345)tCg>tTg	p.S115L		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA.	115			S -> P (in dbSNP:rs12101356).							large_intestine(3)|lung(3)|urinary_tract(1)	7						AGGAGACATCGAGCAGCTAAC	0.552000														13			10		0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167525048	167525048	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:167525048G>A	uc003ffa.4	+	5	1096	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	SERPINI1_uc003ffb.4_Missense_Mutation_p.E300K	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	300					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AGTGGAACAGGAAATTGATTT	0.338000														31			10		0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48572950	48572950	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:48572950C>T	uc003ctv.3	-	8	999	c.982G>A	c.(982-984)Gat>Aat	p.D328N	PFKFB4_uc003ctx.3_Missense_Mutation_p.D285N|PFKFB4_uc010hkb.3_Intron|PFKFB4_uc003ctw.3_Missense_Mutation_p.D137N|PFKFB4_uc010hkc.3_Missense_Mutation_p.D328N|PFKFB4_uc011bbm.2_Missense_Mutation_p.D317N|PFKFB4_uc011bbn.1_Intron	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	328	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACTACCGCATCGATCTCGTTG	0.547000														12			10		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263619	1263619	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:1263619G>A	uc001lta.3	+	30	5568	c.5509G>A	c.(5509-5511)Gag>Aag	p.E1837K		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1837	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAACTACCCCGAGGTAAGCAT	0.587000														25			20		0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54606840	54606840	+	Missense_Mutation	SNP	C	T	T	rs141787724		TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:54606840C>T	uc001cwv.1	-	2	1542	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	232	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						ACCTGCAGTTCGTGGCCCAGA	0.637000														31			15		0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111680403	111680403	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:111680403A>G	uc010rwn.2	-	12	1637	c.1538T>C	c.(1537-1539)aTc>aCc	p.I513T	ALG9_uc001ply.3_Missense_Mutation_p.I388T|ALG9_uc001plz.3_Missense_Mutation_p.I395T|ALG9_uc021qql.1_Missense_Mutation_p.I388T|ALG9_uc021qqm.1_Missense_Mutation_p.I395T|ALG9_uc010rwo.2_Missense_Mutation_p.I387T	NM_001077692	NP_001071160	Q9H6U8	ALG9_HUMAN	Homo sapiens asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) (ALG9), transcript variant 4, mRNA.	559					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GGCCAAGCTGATCCATTCTTC	0.388000														23			22		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51251604	51251604	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:51251604G>A	uc011bds.2	+	13	1201	c.1178G>A	c.(1177-1179)aGa>aAa	p.R393K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	393						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)		CAGATTCGGAGAGAAAATCCC	0.408000														9			10		0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762156	23762156	+	Missense_Mutation	SNP	G	A	A	rs146832864	byFrequency	TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr9:23762156G>A	uc003zpu.3	-	1	352	c.77C>T	c.(76-78)tCg>tTg	p.S26L	ELAVL2_uc003zps.3_Missense_Mutation_p.S26L|ELAVL2_uc003zpt.3_Missense_Mutation_p.S26L|ELAVL2_uc003zpv.3_Missense_Mutation_p.S26L|ELAVL2_uc003zpw.3_Missense_Mutation_p.S26L	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.	26					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.S26L(2)		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)		AACTGGTGACGAACAGTTGTT	0.433000														41			50		0	0	1	0	0
RPSA	3921	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:24010294C>G	uc002nrn.3	+	3	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	111	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.Q111E(12)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTTCACTAACCAGATCCAGGC	0.567000														30			5		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43689216	43689216	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:43689216C>T	uc002ovu.3	-	1	279	c.148G>A	c.(148-150)Gat>Aat	p.D50N	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.D50N	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	50	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AGAAGAACATCCTTCCCCTCG	0.453000														103			35		0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261837	39261837	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:39261837G>A	uc010wfp.2	+	0	197	c.197G>A	c.(196-198)cGc>cAc	p.R66H		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	66	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].		Missing (in allele KAP.9-v1).			keratin filament		p.S65C(2)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ACTTGTTCCCGCCCCAGCTGC	0.657000														18			14		0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159858154	159858154	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:159858154C>T	uc001fui.3	-	3	423	c.405G>A	c.(403-405)aaG>aaA	p.K135K	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Silent_p.K50K|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Silent_p.K135K	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	135						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TGGTGGCTTCCTTCTCCTTCT	0.517000														30			9		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160032985	160032985	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:160032985C>T	uc002uag.3	+	12	2132	c.1858C>T	c.(1858-1860)Cct>Tct	p.P620S	TANC1_uc010fol.1_Missense_Mutation_p.P514S|TANC1_uc010zcm.2_Missense_Mutation_p.P612S|TANC1_uc010fom.1_Missense_Mutation_p.P426S	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	620						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTCTAAATTTCCTGCCTGGTT	0.318000														16			11		0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30671796	30671796	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr20:30671796C>T	uc002wxh.3	+	6	869	c.632C>T	c.(631-633)tCc>tTc	p.S211F	HCK_uc010gdy.3_Missense_Mutation_p.S191F|HCK_uc021wbv.1_Missense_Mutation_p.S190F|HCK_uc002wxi.3_Missense_Mutation_p.S189F	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	211	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TTCTACATATCCCCCCGAAGC	0.587000														36			14		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103416169	103416169	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:103416169G>A	uc001ymi.1	-	25	3614	c.3382C>T	c.(3382-3384)Ctg>Ttg	p.L1128L	CDC42BPB_uc001ymj.1_Silent_p.L230L	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1128	PH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGATCATACAGGAAGAGCTTG	0.537000														60			31		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr20:29628300G>A	uc010ztl.1	+	2	244	c.212G>A	c.(211-213)aGt>aAt	p.S71N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23N					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000														46			5		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158617384	158617384	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:158617384G>A	uc001fst.1	-	26	4040	c.3841C>T	c.(3841-3843)Cgt>Tgt	p.R1281C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1281					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	p.R1281C(2)		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)					CTCTCCTTACGATCCTTTGTA	0.547000														49			34		0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10624442	10624442	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr20:10624442C>T	uc002wnw.2	-	19	2958	c.2442G>A	c.(2440-2442)ggG>ggA	p.G814G	JAG1_uc010gcd.1_Silent_p.G372G	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	814	EGF-like 15; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGCAGTCGGGCCCAGCAAAAC	0.498000									Alagille Syndrome					21			4		0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101933623	101933623	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:101933623G>A	uc002bxa.2	-	8	1314	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	PCSK6_uc010bpd.3_Nonsense_Mutation_p.Q205*|PCSK6_uc002bwy.3_Nonsense_Mutation_p.Q334*|PCSK6_uc010bpe.3_Nonsense_Mutation_p.Q331*|PCSK6_uc002bxb.2_Nonsense_Mutation_p.Q334*|PCSK6_uc002bxc.1_Nonsense_Mutation_p.Q334*|PCSK6_uc002bxd.1_Nonsense_Mutation_p.Q334*|PCSK6_uc002bxe.3_Nonsense_Mutation_p.Q334*|PCSK6_uc002bxg.1_Nonsense_Mutation_p.Q334*	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	335	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCAGGCCCTGCCGGCCCTGG	0.607000														23			21		0	0	1	0	0
MYEOV2	150678	broad.mit.edu	37	2	241075731	241075731	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:241075731C>T	uc002vyu.1	-	0	34	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	MYEOV2_uc010zof.1_5'UTR	NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		AGGCTCACTTCCGGCCTCAGA	0.741000														9			4		0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330912	39330913	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:39330912_39330913GG>AA	uc021uuh.1	-	7	1067_1068	c.1056_1057CC>TT	c.(1054-1059)caccgt>caTTgt	p.R353C	HNRNPL_uc002ojj.1_Missense_Mutation_p.R9C|HNRNPL_uc010ege.1_Missense_Mutation_p.R9C|HNRNPL_uc002ojk.3_Missense_Mutation_p.R9C|HNRNPL_uc002ojl.3_Missense_Mutation_p.R9C|HNRNPL_uc021uui.1_Missense_Mutation_p.R220C|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojp.1_Missense_Mutation_p.R9C|HNRNPL_uc010xun.2_Missense_Mutation_p.T60I	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	353	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGGCCCCGACGGTGACCCCCCA	0.683000														3			4		0	0	1	0	0
LRRC42	115353	broad.mit.edu	37	1	54417912	54417912	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:54417912G>A	uc001cwj.1	+	1	440	c.240G>A	c.(238-240)ggG>ggA	p.G80G	LRRC42_uc001cwk.1_Silent_p.G80G	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	Homo sapiens leucine rich repeat containing 42 (LRRC42), transcript variant 2, mRNA.	80										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CCCGAGAGGGGAATCTTCGGT	0.488000														48			27		0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103339331	103339331	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr13:103339331C>T	uc001vpj.3	-	2	365	c.359G>A	c.(358-360)gGt>gAt	p.G120D		NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	Homo sapiens methyltransferase like 21C (METTL21C), mRNA.	120							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						TGGTCCGGCACCAATTTCAAG	0.368000														17			13		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72152321	72152321	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:72152321C>T	uc001xms.3	+	9	3708	c.3347C>T	c.(3346-3348)tCc>tTc	p.S1116F	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S1116F|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S1116F|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S1116F|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S591F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1116					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)		CGAAGCATCTCCAGTGACGGG	0.542000														20			11		0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45556889	45556889	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:45556889C>T	uc001zva.2	+	6	690	c.625C>T	c.(625-627)Caa>Taa	p.Q209*		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	209					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CCTAGGTCTTCAATTTGTCTT	0.428000														51			23		0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135390924	135390924	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:135390924C>T	uc003vtb.3	-	3	1179	c.490G>A	c.(490-492)Gag>Aag	p.E164K	SLC13A4_uc003vta.3_Missense_Mutation_p.E164K	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	164						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						ACGAGCTGCTCGTCCTCAGCA	0.607000														65			26		0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45145083	45145083	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:45145083A>G	uc011kcd.2	-	2	774	c.725T>C	c.(724-726)gTg>gCg	p.V242A	TBRG4_uc003tmu.3_Missense_Mutation_p.V56A|TBRG4_uc003tmv.3_Missense_Mutation_p.V231A|TBRG4_uc003tmw.3_Missense_Mutation_p.V231A|TBRG4_uc003tmx.3_Missense_Mutation_p.V231A|SNORA5A_uc003tmy.3_5'Flank|SNORA5C_uc003tmz.1_5'Flank	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	Homo sapiens transforming growth factor beta regulator 4 (TBRG4), transcript variant 1, mRNA.	231					G1 phase of mitotic cell cycle|apoptosis|cell cycle arrest|cellular respiration|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GAGGTGTCCCACCTTCATCAT	0.572000														60			27		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41668062	41668062	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr21:41668062C>T	uc002yyq.1	-	9	2554	c.2102G>A	c.(2101-2103)gGg>gAg	p.G701E	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	701	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCCATAAATCCCGTCCTGGTC	0.438000														26			15		0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23807135	23807135	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr18:23807135C>T	uc002kvt.4	+	0	727	c.238C>T	c.(238-240)Cct>Tct	p.P80S	TAF4B_uc002kvu.4_Missense_Mutation_p.P80S|TAF4B_uc002kvs.4_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA.	80					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CAGCGCCCCTCCTAAAGTCAG	0.637000														19			45		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171376042	171376042	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:171376042G>A	uc002ufy.3	+	29	3710	c.3567G>A	c.(3565-3567)gaG>gaA	p.E1189E	MYO3B_uc002ufv.3_Silent_p.E1176E|MYO3B_uc010fqb.1_Silent_p.E1189E|MYO3B_uc002ufz.3_Silent_p.E1162E|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	1189					response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTGTCACAGAGAAAAATGGGT	0.433000														14			11		0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149630366	149630366	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:149630366G>A	uc003lru.2	-	9	916	c.701C>T	c.(700-702)tCg>tTg	p.S234L	CAMK2A_uc003lrt.2_Missense_Mutation_p.S234L|CAMK2A_uc010jhe.2_Missense_Mutation_p.S214L|CAMK2A_uc010jhf.1_Missense_Mutation_p.R72C	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	234	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	p.S234L(2)		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)			CCATTCCGGCGATGGGAACTG	0.617000														43			25		0	0	1	0	0
FAM222B	55731	broad.mit.edu	37	17	27085398	27085398	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:27085398G>A	uc002hct.1	-	2	1846	c.1579C>T	c.(1579-1581)Cga>Tga	p.R527*	FAM222B_uc010wax.1_Nonsense_Mutation_p.R527*|FAM222B_uc010way.1_Nonsense_Mutation_p.R527*|FAM222B_uc002hcw.3_Nonsense_Mutation_p.R399*	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	Homo sapiens chromosome 17 open reading frame 63 (C17orf63), transcript variant 2, mRNA.	527																	CTCTGTTCTCGGAAGCAGGCC	0.602000														28			16		0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125889	58125889	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:58125889G>A	uc010rke.2	-	0	654	c.654C>T	c.(652-654)ttC>ttT	p.F218F		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGATCAATATGAACAGATAGG	0.353000														38			14		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9523275	9523275	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr20:9523275C>T	uc002wnl.2	-	9	2507	c.1962G>A	c.(1960-1962)agG>agA	p.R654R	PAK7_uc002wnk.2_Silent_p.R654R|PAK7_uc002wnj.2_Silent_p.R654R|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	654	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGTCCCGGATCCTCCGCATCG	0.502000														55			30		0	0	1	0	0
PRAMEF20	645425	broad.mit.edu	37	1	13743091	13743091	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:13743091C>T	uc009voa.1	+	1	379	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C		NM_001099852	NP_001093584	Q5VT98	PRA20_HUMAN	Homo sapiens PRAME family member 20 (PRAMEF20), mRNA.	94										endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACAGGGTTCGTCTCAGGTG	0.602000														18			17		0	0	1	0	0
HMGA2	8091	broad.mit.edu	37	12	66232315	66232315	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:66232315G>A	uc001ssu.1	+	2	1026	c.215G>A	c.(214-216)gGa>gAa	p.G72E	HMGA2_uc001ssw.1_Missense_Mutation_p.G72E|HMGA2_uc001ssx.3_Missense_Mutation_p.G72E|HMGA2_uc010ssv.1_Non-coding_Transcript|HMGA2_uc001sss.1_Non-coding_Transcript|HMGA2_uc001sst.1_Missense_Mutation_p.G72E|HMGA2_uc001ssv.3_Missense_Mutation_p.G72E|HMGA2_uc001ssy.3_Non-coding_Transcript	NM_003483	NP_003474	P52926	HMGA2_HUMAN	Homo sapiens high mobility group AT-hook 2 (HMGA2), transcript variant 1, mRNA.	72					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		GAAGCCACTGGAGAAAAACGG	0.333000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""									9			3		0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190439984	190439984	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:190439984G>A	uc002uqp.4	-	2	525	c.174C>T	c.(172-174)ctC>ctT	p.L58L	SLC40A1_uc002uqq.2_Silent_p.L58L	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	58					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CTGTCAAAAGGAGGCTGTTTC	0.478000														70			36		0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19646583	19646583	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:19646583T>C	uc002gwk.3	-	1	369	c.106A>G	c.(106-108)Acc>Gcc	p.T36A	ALDH3A1_uc010cqu.3_Missense_Mutation_p.N119S|ALDH3A1_uc010vzd.2_Missense_Mutation_p.N119S|ALDH3A1_uc002gwj.3_Missense_Mutation_p.N119S|ALDH3A1_uc010cqv.3_Missense_Mutation_p.N119S|ALDH3A1_uc002gwl.1_Missense_Mutation_p.N46S			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	324					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GATGGTGAGGTTGAAGGGGTA	0.652000														21			15		0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16852106	16852106	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:16852106C>T	uc002gqs.1	-	2	404	c.391G>A	c.(391-393)Gac>Aac	p.D131N	TNFRSF13B_uc010vwt.1_Non-coding_Transcript|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.D85N	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	131					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CCCGAGTTGTCTGAATTGTTT	0.517000									IgA Deficiency, Selective					84			51		0	0	1	0	0
MEN1	4221	broad.mit.edu	37	11	64572586	64572586	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:64572586C>A	uc001obj.3	-	8	1358	c.1285G>T	c.(1285-1287)Gag>Tag	p.E429*	MAP4K2_uc001obh.3_5'Flank|MAP4K2_uc001obi.3_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.3_Nonsense_Mutation_p.E429*|MEN1_uc001obl.3_Nonsense_Mutation_p.E389*|MEN1_uc001obm.3_Nonsense_Mutation_p.E424*|MEN1_uc001obn.3_Nonsense_Mutation_p.E429*|MEN1_uc001obo.3_Nonsense_Mutation_p.E429*|MEN1_uc001obq.3_Nonsense_Mutation_p.E429*|MEN1_uc001obr.3_Nonsense_Mutation_p.E429*	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	429					DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding	p.T429T(1)|p.L414_E425del(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CTGCCCTCCTCCCATTTGCAG	0.632000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated					10			16		9.16793e-09	9.23809e-09	1	1	0
STAT2	6773	broad.mit.edu	37	12	56749257	56749257	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:56749257G>A	uc001slc.3	-	4	644	c.441C>T	c.(439-441)tcC>tcT	p.S147S	STAT2_uc001sld.3_Silent_p.S143S|STAT2_uc010sqn.2_Silent_p.S143S	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	147					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CCAGGATCCGGGATTCAATCT	0.493000														148			87		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42116122	42116122	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:42116122C>T	uc001zok.4	+	29	4380	c.4094C>T	c.(4093-4095)cCc>cTc	p.P1365L	MAPKBP1_uc010bci.3_Intron|MAPKBP1_uc010udb.2_Missense_Mutation_p.P1198L|MAPKBP1_uc001zoj.4_Missense_Mutation_p.P1359L|MAPKBP1_uc010bcj.3_Missense_Mutation_p.P866L|MAPKBP1_uc010bck.3_Missense_Mutation_p.P576L|MAPKBP1_uc010bcl.3_Missense_Mutation_p.P866L	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	1365										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CATCCTGGGCCCAGCAGCCCC	0.612000														57			34		0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123105006	123105006	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:123105006G>A	uc003vkn.3	-	9	2216	c.1639C>T	c.(1639-1641)Ctt>Ttt	p.L547F	IQUB_uc003vko.3_Missense_Mutation_p.L547F|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.L547F	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	547										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTCATCATAAGGTCAACCTCT	0.308000														62			61		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12313730	12313730	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:12313730G>A	uc001mkg.1	+	1	306	c.15G>A	c.(13-15)aaG>aaA	p.K5K		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	5					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CACCTCCTAAGGACccttctc	0.423000														27			17		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60813988	60813988	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:60813988C>G	uc010dds.3	-	6	1640	c.1355G>C	c.(1354-1356)gGt>gCt	p.G452A	MARCH10_uc010ddr.3_Missense_Mutation_p.G414A|MARCH10_uc002jag.4_Missense_Mutation_p.G414A|MARCH10_uc002jah.2_Missense_Mutation_p.G413A|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	414							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AGCATTGACACCAACCTCTTG	0.453000														47			20		0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78077709	78077709	+	Silent	SNP	T	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:78077709T>C	uc003kfq.3	-	6	2588	c.1302A>G	c.(1300-1302)agA>agG	p.R434R		NM_000046	NP_000037	P15848	ARSB_HUMAN	Homo sapiens arylsulfatase B (ARSB), transcript variant 1, mRNA.	434					lysosomal transport|lysosome organization	lysosome	N-acetylgalactosamine-4-sulfatase activity|arylsulfatase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		AATTTCCATGTCTAATTGCAG	0.498000														20			12		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164562	139164562	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:139164562C>T	uc003yuy.3	-	12	2327	c.2156G>A	c.(2155-2157)cGa>cAa	p.R719Q	FAM135B_uc003yux.3_Missense_Mutation_p.R620Q|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.R281Q|FAM135B_uc003yvb.3_Missense_Mutation_p.R281Q	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	719										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCATGTCTTCGAACAAACGG	0.567000										HNSCC(54;0.14)				20			22		0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22039122	22039122	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr22:22039122T>A	uc010gtj.1	+	9	750	c.634T>A	c.(634-636)Tac>Aac	p.Y212N	PPIL2_uc002zvh.4_Missense_Mutation_p.Y212N|PPIL2_uc002zvi.4_Missense_Mutation_p.Y212N|PPIL2_uc002zvg.4_Missense_Mutation_p.Y212N|PPIL2_uc011aij.2_Missense_Mutation_p.Y191N|PPIL2_uc002zvk.4_5'Flank	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	212					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GCAGGAGCTCTACAAGGAGTT	0.522000														17			17		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838895	100838895	+	Missense_Mutation	SNP	C	T	T	rs149460504		TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:100838895C>T	uc003pqj.4	-	10	2110	c.1643G>A	c.(1642-1644)cGa>cAa	p.R548Q	SIM1_uc021zdg.1_Missense_Mutation_p.R548Q|SIM1_uc010kcu.3_Missense_Mutation_p.R548Q	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	548	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGTACGATATCGGTCACCTGA	0.428000														11			18		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48634373	48634373	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:48634373T>A	uc003toq.2	+	57	14732	c.14708T>A	c.(14707-14709)gTt>gAt	p.V4903D	ABCA13_uc010kys.1_Missense_Mutation_p.V1978D|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.V633D	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4903	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGAAGGAGGTTCGGGAAGGC	0.498000														47			25		0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70149321	70149321	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:70149321C>T	uc001svp.3	+	1	628	c.181C>T	c.(181-183)Cct>Tct	p.P61S	RAB3IP_uc021rao.1_Missense_Mutation_p.P45S|RAB3IP_uc001svm.3_Missense_Mutation_p.P45S|RAB3IP_uc001svn.3_Missense_Mutation_p.P45S|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Missense_Mutation_p.P61S|RAB3IP_uc001svs.3_Non-coding_Transcript	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	61					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CCGGCCACACCCTTCAGCTTT	0.463000														47			33		0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51204893	51204893	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:51204893G>A	uc001wyi.3	-	26	5931	c.5740C>T	c.(5740-5742)Cag>Tag	p.Q1914*	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Nonsense_Mutation_p.Q1914*|NIN_uc001wyk.3_Nonsense_Mutation_p.Q1201*|NIN_uc001wyo.3_Nonsense_Mutation_p.Q1914*|NIN_uc001wyn.3_Non-coding_Transcript	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1914					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCTGAAACTGATCACACTCT	0.393000			T	PDGFRB	MPD									45			33		0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606411	1606411	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:1606411G>A	uc001ltu.1	-	0	103	c.69C>T	c.(67-69)ggC>ggT	p.G23G	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	23						keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		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)		CGGAGCCACAGCCCCCACAGC	0.677000														121			6		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189933585	189933585	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:189933585C>T	uc002uqk.3	-	18	1459	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	COL5A2_uc010frx.3_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	395					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTCAGGGCCTCGCGCCCCTGT	0.488000														22			14		0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98208136	98208136	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:98208136G>A	uc003knf.3	-	25	3843	c.3695C>T	c.(3694-3696)cCa>cTa	p.P1232L	CHD1_uc010jbn.3_5'UTR	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	1232					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCTTTCTTCTGGATCAGAAGG	0.348000														23			14		0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35155350	35155350	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr20:35155350G>A	uc002xff.3	+	12	3321	c.2886G>A	c.(2884-2886)cgG>cgA	p.R962R	DLGAP4_uc010zvp.2_Silent_p.R962R|DLGAP4_uc002xfg.3_Silent_p.R258R|DLGAP4_uc002xfh.3_Silent_p.R426R|DLGAP4_uc002xfi.3_3'UTR|DLGAP4_uc002xfj.3_Silent_p.R258R|BC039668_uc002xfk.3_Intron	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	965					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGGCCAAGCGGGCAGCTTCTG	0.642000														20			16		0	0	1	0	0
PCP4	5121	broad.mit.edu	37	21	41301012	41301012	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr21:41301012G>A	uc002yyp.3	+	2	246	c.165G>A	c.(163-165)aaG>aaA	p.K55K		NM_006198	NP_006189	P48539	PCP4_HUMAN	Homo sapiens Purkinje cell protein 4 (PCP4), mRNA.	55	IQ.				central nervous system development	cytosol|nucleus				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				AATTCCAGAAGAAGAAGGCTG	0.448000														21			14		0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096588	107096588	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:107096588G>A	uc003dwi.1	+	0	401	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	52										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GACATCTGATGATTGTAATCA	0.373000														55			36		0	0	1	0	0
CTSO	1519	broad.mit.edu	37	4	156850828	156850828	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:156850828A>T	uc003ipg.3	-	5	753	c.704T>A	c.(703-705)cTt>cAt	p.L235H		NM_001334	NP_001325	P43234	CATO_HUMAN	Homo sapiens cathepsin O (CTSO), mRNA.	235					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		AAAGGTAAGAAGTGCTTTTGC	0.363000														25			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140248703	140248703	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:140248703G>A	uc003lia.2	+	0	873	c.15G>A	c.(13-15)caG>caA	p.Q5Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.Q5Q	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	0					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)			TTGGTTTTCAGAGAAGGGGAT	0.488000														39			26		0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183824092	183824092	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:183824092G>A	uc010hxr.3	+	5	1374	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	HTR3E_uc010hxq.3_Missense_Mutation_p.E368K|HTR3E_uc003fml.4_Missense_Mutation_p.E353K|HTR3E_uc003fmm.3_Missense_Mutation_p.E383K|HTR3E_uc003fmn.3_Missense_Mutation_p.E368K	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	368						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCCCCAGAAGGAAAATAAGGG	0.667000														19			6		0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53292602	53292602	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:53292602C>T	uc009zmk.1	-	6	1167	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	KRT8_uc001sbd.2_Missense_Mutation_p.E355K|KRT8_uc009zml.1_Missense_Mutation_p.E355K|KRT8_uc009zmm.1_Missense_Mutation_p.E355K	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	355	Coil 2.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCTCCAGCTCGGACAACTTG	0.642000														44			19		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22927228	22927228	+	Silent	SNP	G	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:22927228G>T	uc001bfx.1	+	13	2588	c.2463G>T	c.(2461-2463)gtG>gtT	p.V821V		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	821	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCAGCGACGTGTGGAGCTTCG	0.657000														81			32		3.03874e-20	3.12579e-20	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152708309	152708309	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:152708309C>T	uc021zhb.1	-	51	8608	c.8385G>A	c.(8383-8385)gcG>gcA	p.A2795A	SYNE1_uc003qot.4_Silent_p.A2802A|SYNE1_uc003qou.4_Silent_p.A2795A|SYNE1_uc010kjb.1_Silent_p.A2778A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2795			A -> V (in dbSNP:rs214950).		Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCTGGACTTCGCAATTAGAC	0.488000										HNSCC(10;0.0054)				20			25		0	0	1	0	0
SUV39H2	79723	broad.mit.edu	37	10	14939068	14939068	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:14939068G>A	uc021png.1	+	2	507	c.401G>A	c.(400-402)aGg>aAg	p.R134K	SUV39H2_uc001ing.3_Intron|SUV39H2_uc001inh.3_Missense_Mutation_p.R74K|SUV39H2_uc001ini.3_Missense_Mutation_p.R74K|SUV39H2_uc021pnh.1_Intron|SUV39H2_uc001inj.3_Missense_Mutation_p.R74K	NM_001193424	NP_078946	Q9H5I1	SUV92_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 2 (Drosophila) (SUV39H2), transcript variant 1, mRNA.	134					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						GCTAAACAAAGGATAGCTCTG	0.368000														26			17		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11772518	11772518	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:11772518G>T	uc002gne.3	+	50	10069	c.10001G>T	c.(10000-10002)tGt>tTt	p.C3334F	DNAH9_uc010coo.3_Missense_Mutation_p.C2628F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3334	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAACTCAAATGTCAGCAAGAA	0.488000														42			26		1.66031e-10	1.68159e-10	1	1	0
IL26	55801	broad.mit.edu	37	12	68595655	68595655	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:68595655C>T	uc001stx.1	-	4	521	c.486G>A	c.(484-486)tgG>tgA	p.W162*		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	162					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of cytokine secretion|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		ATTTTTTAATCCAGGAAAGAA	0.289000														21			8		0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35450231	35450231	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:35450231G>A	uc002nxh.1	-	3	915	c.528C>T	c.(526-528)ccC>ccT	p.P176P		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCTGTTTCCGGGGAAGGTTTG	0.502000														147			72		0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36537307	36537307	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr22:36537307C>T	uc003aot.3	-	2	1188	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	APOL3_uc003aoq.3_Missense_Mutation_p.E313K|APOL3_uc003aor.3_Missense_Mutation_p.E313K|APOL3_uc003aos.3_Missense_Mutation_p.E313K|APOL3_uc003aou.3_Missense_Mutation_p.E184K|APOL3_uc003aov.3_Missense_Mutation_p.E184K|APOL3_uc021wol.1_Missense_Mutation_p.E184K	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	384					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						ATTAGATTCTCCTCCAGCTCC	0.552000														56			26		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21771858	21771858	+	Nonsense_Mutation	SNP	G	A	A	rs144955773		TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:21771858G>A	uc002djh.3	+	27	3418	c.3417G>A	c.(3415-3417)tgG>tgA	p.W1139*	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Nonsense_Mutation_p.W1060*|OTOA_uc002dji.3_Nonsense_Mutation_p.W815*|OTOA_uc010vbk.2_Nonsense_Mutation_p.W787*	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	1153					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGCTCCTGTGGTGAGTGGCCT	0.537000														20			14		0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67315971	67315971	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:67315971C>T	uc010cef.3	+	7	1364	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	PLEKHG4_uc002eso.4_Silent_p.I355I|PLEKHG4_uc002esp.4_Silent_p.I162I|PLEKHG4_uc002esq.4_Silent_p.I355I|PLEKHG4_uc002ess.4_Silent_p.I355I|PLEKHG4_uc010ceg.3_Silent_p.I274I	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	355					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		AGGGGGCCATCGAAAGTGTGA	0.622000														39			15		0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153070593	153070593	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chrX:153070593C>A	uc004fja.1	-	6	989	c.739G>T	c.(739-741)Gag>Tag	p.E247*	PDZD4_uc004fiy.1_Nonsense_Mutation_p.E166*|PDZD4_uc004fiz.1_Nonsense_Mutation_p.E241*|PDZD4_uc004fix.2_Nonsense_Mutation_p.E145*|PDZD4_uc011mze.1_Nonsense_Mutation_p.E132*|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	241						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCACGCAGCTCCCCCTCATTC	0.612000														21			26		7.01153e-11	7.11968e-11	1	1	0
ACTRT2	140625	broad.mit.edu	37	1	2939031	2939031	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:2939031G>A	uc001ajz.3	+	0	986	c.781G>A	c.(781-783)Gag>Aag	p.E261K		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	261						cytoplasm|cytoskeleton		p.E261K(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCAGGCGCCCGAGGCCCTGTT	0.642000														46			30		0	0	1	0	0
RGS7BP	401190	broad.mit.edu	37	5	63803625	63803625	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:63803625C>T	uc003jtj.3	+	1	253	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W		NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	85					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CCCCTCACTCCGGGCGGAAAT	0.517000														19			11		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11594532	11594532	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:11594532G>A	uc001ash.4	+	17	3608	c.3470G>A	c.(3469-3471)gGc>gAc	p.G1157D		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1157					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TTGCCCGAGGGCTCAGTCCTG	0.627000														33			20		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041335	234041335	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:234041335C>T	uc001hvy.1	+	1	259	c.114C>T	c.(112-114)ctC>ctT	p.L38L		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GCCCCCAGCTCCGGCAGCTCA	0.672000														58			15		0	0	1	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103518694	103518694	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr13:103518694C>T	uc001vpu.2	+	17	3766	c.3644C>T	c.(3643-3645)gCt>gTt	p.A1215V	BIVM-ERCC5_uc001vpw.3_Missense_Mutation_p.A761V|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Missense_Mutation_p.A593V	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	1186					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										GAACGGATCGCTGCTACTGTC	0.498000														30			17		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225556	21225556	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:21225556G>A	uc002red.3	-	28	12866	c.12738C>T	c.(12736-12738)ttC>ttT	p.F4246F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4246					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTAGGTCTTGGAAATAGGAAA	0.378000														51			25		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79429941	79429941	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:79429941G>A	uc003hlb.2	+	62	10001	c.9561G>A	c.(9559-9561)aaG>aaA	p.K3187K	FRAS1_uc003hlc.1_Silent_p.K189K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3182					cell communication	integral to membrane|plasma membrane	metal ion binding	p.K3187N(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAGGAGTCAAGAAATCCCCCT	0.547000														14			8		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121932414	121932414	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:121932414G>A	uc001uat.3	-	11	1806	c.1702C>T	c.(1702-1704)Cct>Tct	p.P568S	KDM2B_uc001uar.3_Missense_Mutation_p.P159S|KDM2B_uc001uas.3_Missense_Mutation_p.P537S|KDM2B_uc021rfd.1_Missense_Mutation_p.P537S|KDM2B_uc001uau.3_Missense_Mutation_p.P451S|KDM2B_uc021rfe.1_Missense_Mutation_p.P568S|KDM2B_uc001uav.4_Missense_Mutation_p.P478S	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	568					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GTCACCACAGGGACCCCAGTG	0.592000											OREG0022202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		7			5		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132562024	132562024	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:132562024A>G	uc001ujn.3	+	52	9330	c.9178A>G	c.(9178-9180)Act>Gct	p.T3060A	EP400_uc021rgq.1_Missense_Mutation_p.T3059A|EP400_uc001ujm.3_Missense_Mutation_p.T2979A|EP400_uc001ujp.3_Missense_Mutation_p.T270A|EP400_uc010tbo.2_Missense_Mutation_p.D126G	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	3096					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGTGACCGCGACTGCCCAGGT	0.657000														56			20		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138414689	138414689	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:138414689G>A	uc002tva.1	+	22	4244	c.4244G>A	c.(4243-4245)cGa>cAa	p.R1415Q	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATAACGAACGAACTGTATGG	0.413000														17			9		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34102840	34102840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:34102840G>A	uc001zhi.3	+	70	10257	c.10187G>A	c.(10186-10188)cGa>cAa	p.R3396Q	RYR3_uc010bar.3_Missense_Mutation_p.R3391Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3396					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCAAAATCGCGATACAGCCAT	0.547000														17			10		0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576822	158576822	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:158576822G>A	uc010pio.2	+	0	594	c.594G>A	c.(592-594)agG>agA	p.R198R		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GTGAGCTGAGGATCTTTATCC	0.512000														56			38		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033150	52033150	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:52033150G>A	uc002pwy.3	-	4	1048	c.840C>T	c.(838-840)ccC>ccT	p.P280P	SIGLEC6_uc002pwz.3_Silent_p.P264P|SIGLEC6_uc010ydb.2_Silent_p.P228P|SIGLEC6_uc010ydc.2_Silent_p.P291P|SIGLEC6_uc002pxa.3_Silent_p.P280P|SIGLEC6_uc010eoz.2_Silent_p.P269P|SIGLEC6_uc010epa.2_Silent_p.P269P|SIGLEC6_uc010epb.2_Silent_p.P233P	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	280	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGTGTGCAGGGGGGTTGCCGT	0.627000														60			19		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10508883	10508883	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:10508883C>T	uc001min.1	+	5	1283	c.938C>T	c.(937-939)cCc>cTc	p.P313L	AMPD3_uc010rbz.1_Missense_Mutation_p.P145L|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.P304L|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.P311L|AMPD3_uc009yfy.2_Missense_Mutation_p.P304L	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	304					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AAGAGTAACCCCCACCGGGAC	0.527000														62			43		0	0	1	0	0
FAM207A	85395	broad.mit.edu	37	21	46363728	46363728	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr21:46363728C>T	uc002zgl.3	+	1	277	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	FAM207A_uc002zgm.3_Intron	NM_058190	NP_478070	Q9NSI2	CU070_HUMAN	Homo sapiens family with sequence similarity 207, member A (FAM207A), mRNA.	87																	CTCGAGTGCACGGAGCGTCCC	0.612000														19			11		0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38910609	38910609	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:38910609G>A	uc021uub.1	-	5	768	c.554C>T	c.(553-555)cCa>cTa	p.P185L	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.P185L|RASGRP4_uc021uua.1_Missense_Mutation_p.P185L|RASGRP4_uc021uuc.1_Missense_Mutation_p.P185L|RASGRP4_uc021uud.1_Missense_Mutation_p.P185L|RASGRP4_uc021uue.1_Missense_Mutation_p.P185L|RASGRP4_uc021uuf.1_Missense_Mutation_p.P171L	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	185					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCCAGGCCTGGGCTGCTCAT	0.632000														20			8		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108129437	108129437	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:108129437G>A	uc003dxa.1	-	31	4605	c.4548C>T	c.(4546-4548)aaC>aaT	p.N1516N		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1516						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TACCTTGGAGGTTCTTGTTCT	0.547000														30			19		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				54			100		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074964	9074964	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:9074964G>A	uc002mkp.3	-	2	12686	c.12482C>T	c.(12481-12483)tCc>tTc	p.S4161F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4163	Ser-rich.|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						AGGTACCAGGGAAGAGGAAGA	0.483000														43			20		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49441820	49441821	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:49441820_49441821CC>TT	uc001rta.4	-	13	4163_4164	c.4163_4164GG>AA	c.(4162-4164)cgg>cAA	p.R1388Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1388					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.R1115L(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCTCTGCCCCCCGGCCAAAGCT	0.550000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				40			10		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23299917	23299917	+	RNA	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:23299917G>A	uc002nrb.1	+	0		c.141G>A								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GTGGCCCTGCGACCTGCGGGT	0.602000														43			33		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32906562	32906562	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr13:32906562G>A	uc001uub.1	+	9	1174	c.947G>A	c.(946-948)aGa>aAa	p.R316K	BRCA2_uc001uua.1_Missense_Mutation_p.R193K	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	316					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCTAAATGTAGAACAAAAAAT	0.299000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				23			18		0	0	1	0	0
C15orf23	90417	broad.mit.edu	37	15	40675068	40675068	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:40675068G>A	uc001zll.3	+	0	147	c.32G>A	c.(31-33)aGa>aAa	p.R11K	C15orf23_uc001zlo.3_Missense_Mutation_p.R11K|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.R11K	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	11						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		CCCCTGGACAGAGTTTTCCGT	0.592000														15			6		0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70515000	70515000	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:70515000C>T	uc002ezc.3	-	18	2294	c.2283G>A	c.(2281-2283)acG>acA	p.T761T	COG4_uc002ezd.3_Silent_p.T740T|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_Silent_p.T455T	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	757	E domain; essential for proper cell surface glycosylation.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	p.T761T(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TGAGGCGCCACGTCAATGGGC	0.582000														47			3		0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14970248	14970248	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:14970248G>T	uc002dcv.3	+	20	2455	c.2389G>T	c.(2389-2391)Ggg>Tgg	p.G797W	Mir_548_uc021tdj.1_5'Flank	NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	797						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CGAGATCCATGGGAAGGCAGG	0.527000														56			31		2.61193e-14	2.67283e-14	1	1	0
ANKRD34B	340120	broad.mit.edu	37	5	79855005	79855005	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:79855005G>A	uc010jam.3	-	3	1184	c.834C>T	c.(832-834)tcC>tcT	p.S278S	ANKRD34B_uc003kgw.3_Silent_p.S278S|ANKRD34B_uc010jan.3_Silent_p.S278S|ANKRD34B_uc021yax.1_Silent_p.S278S	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	278						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TGGTTTTATAGGATAGTTCTT	0.468000														32			19		0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24654438	24654438	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:24654438G>A	uc001wmv.1	-	13	2380	c.1359C>T	c.(1357-1359)caC>caT	p.H453H	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_Silent_p.H115H|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Silent_p.H317H|IPO4_uc001wmy.1_Silent_p.H317H|IPO4_uc001wmz.2_Silent_p.H453H	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	453					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGGCTAGGTGGTGTGTGTGTC	0.582000														27			13		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116758425	116758425	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:116758425C>T	uc011ebg.2	+	5	2950	c.2851C>T	c.(2851-2853)Caa>Taa	p.Q951*	DSE_uc003pws.3_Nonsense_Mutation_p.Q932*|DSE_uc003pwt.3_Nonsense_Mutation_p.Q932*|DSE_uc003pwu.3_Nonsense_Mutation_p.Q599*	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	932					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CCTACATGGCCAAAGATGTCT	0.388000														16			17		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858266	9858266	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:9858266G>A	uc010uym.2	-	13	3445	c.3135C>T	c.(3133-3135)tcC>tcT	p.S1045S	GRIN2A_uc002czo.4_Silent_p.S1045S|GRIN2A_uc010uyn.2_Silent_p.S888S|GRIN2A_uc002czr.4_Silent_p.S1045S	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1045					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGCTCTTTAGGGAGTGGGTCC	0.512000														91			42		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739007	119739007	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:119739007G>A	uc002tln.1	+	8	921	c.789G>A	c.(787-789)atG>atA	p.M263I	MARCO_uc010yyf.1_Missense_Mutation_p.M185I	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	263	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.G262C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						ACAGGGGCATGAAAGGAGATG	0.567000														11			9		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43495939	43495939	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:43495939G>A	uc003tid.1	+	12	3149	c.2544G>A	c.(2542-2544)gtG>gtA	p.V848V	HECW1_uc011kbi.1_Silent_p.V814V	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	848	WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCTTTTATGTGGACCACGTGA	0.542000														26			21		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650488	90650488	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:90650488G>A	uc001xye.1	+	1	810	c.368G>A	c.(367-369)gGa>gAa	p.G123E		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	123						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ACAGTAGGAGGAAAAATCTTT	0.483000														42			16		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214286	140214286	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:140214286G>A	uc003lhq.2	+	0	318	c.318G>A	c.(316-318)ctG>ctA	p.L106L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.L106L	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	121	Cadherin 1.				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)			GCATCCACCTGGAGGTGATCG	0.552000														194			36		0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53487495	53487495	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:53487495C>A	uc002ehi.4	+	5	1016	c.898C>A	c.(898-900)Ccc>Acc	p.P300T	RBL2_uc010vgv.1_Missense_Mutation_p.P226T|RBL2_uc002ehj.3_5'UTR|RBL2_uc010vgw.2_Missense_Mutation_p.P84T	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	300					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTTCTGGAAACCCTATATTAG	0.353000														35			23		4.26978e-12	4.35804e-12	1	1	0
LAMB4	22798	broad.mit.edu	37	7	107671362	107671362	+	Silent	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:107671362C>T	uc010ljo.1	-	31	4965	c.4881G>A	c.(4879-4881)ctG>ctA	p.L1627L	LAMB4_uc003vey.2_Silent_p.L1627L|LAMB4_uc010ljp.1_Silent_p.L596L	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1627	Domain I.				cell adhesion	basement membrane		p.G1626W(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTCCATCCTCCAGCCCTGATC	0.483000														54			20		0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6496064	6496064	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:6496064G>A	uc002mfg.1	-	3	553	c.446C>T	c.(445-447)aCg>aTg	p.T149M	TUBB4A_uc002mff.1_Missense_Mutation_p.T77M	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	149					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.T149M(1)									GATGAGCAGCGTGCCCATTCC	0.642000														47			28		0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890383	229890383	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:229890383C>T	uc002vpr.4	-	2	756	c.718G>A	c.(718-720)Gag>Aag	p.E240K	PID1_uc002vps.4_Missense_Mutation_p.E238K|PID1_uc002vpt.4_Missense_Mutation_p.E207K|PID1_uc002vpu.4_Missense_Mutation_p.E158K	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	240	PID.					cytoplasm		p.S240P(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGGGAAACCTCTTCGGAGGAG	0.527000														37			30		0	0	1	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106054658	106054658	+	Silent	SNP	T	G	G	rs114771275	by1000genomes	TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:106054658T>G	uc001yrt.3	-	1	124	c.93A>C	c.(91-93)gcA>gcC	p.A31A	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		GGACCAGGCATGCGACGACCA	0.622000														62			3		0	0	1	0	0
APOBEC2	10930	broad.mit.edu	37	6	41021143	41021143	+	Silent	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:41021143G>A	uc003opl.3	+	0	204	c.57G>A	c.(55-57)gaG>gaA	p.E19E	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	19					DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding	p.G18G(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGAATGGGGAGGATCTGGAGA	0.592000														28			54		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78392163	78392163	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:78392163G>A	uc001syp.3	+	6	960	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	NAV3_uc001syo.3_Missense_Mutation_p.V263I	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	263						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGCAGCAAGGTCCAGGGAGC	0.403000										HNSCC(70;0.22)				27			13		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234869681	234869681	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:234869681G>A	uc002vvh.3	+	11	1664	c.1624G>A	c.(1624-1626)Ggc>Agc	p.G542S	TRPM8_uc010fyj.3_Missense_Mutation_p.G230S	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	542						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGACAGAAATGGCCGGGACGA	0.488000														14			5		0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49949469	49949470	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:49949469_49949470GG>AA	uc001ruh.1	+	11	2463_2464	c.2203_2204GG>AA	c.(2203-2205)ggg>AAg	p.G735K	KCNH3_uc010smj.1_Missense_Mutation_p.G675K	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	735					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.D734H(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GGAGACAGATGGGGAGCAGGGC	0.634000														15			3		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42003536	42003536	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:42003536C>T	uc010ucy.2	+	7	3254	c.3073C>T	c.(3073-3075)Ctt>Ttt	p.L1025F	MGA_uc001zog.1_Missense_Mutation_p.L1025F|MGA_uc010ucz.2_Missense_Mutation_p.L1025F	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1025						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AACAACTCTACTTACAGCTCA	0.448000														13			10		0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651442	1651442	+	Silent	SNP	G	C	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:1651442G>C	uc001lty.3	+	0	410	c.372G>C	c.(370-372)ggG>ggC	p.G124G	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	124	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.G124G(4)		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)		CCTGTGGGGGGTCCAAGGGGG	0.692000														33			4		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135679	55135679	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:55135679C>T	uc010rif.2	+	0	320	c.320C>T	c.(319-321)cCc>cTc	p.P107L		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GCATTTGCTCCCAAAATGATT	0.418000														74			26		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152534436	152534436	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:152534436G>A	uc021vrb.1	-	30	3550	c.3521C>T	c.(3520-3522)gCc>gTc	p.A1174V	NEB_uc002txu.3_Missense_Mutation_p.A1174V|NEB_uc021vrc.1_Missense_Mutation_p.A1174V|NEB_uc010fnx.3_Missense_Mutation_p.A1174V|NEB_uc021vrd.1_Missense_Mutation_p.A1174V	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1174					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGGTCCATGGCGTCAGGCAA	0.453000														20			11		0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	975067	975067	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:975067delG	uc003sjo.4	-	1	350	c.157delC	c.(157-159)cagfs	p.Q53fs	ADAP1_uc010ksc.3_5'UTR	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	53	Arf-GAP.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						TTGCTGACCTGGGGGATATTC	0.672													---	4	---	---	2	---					
FER1L6	654463	broad.mit.edu	37	8	125058038	125058044	+	Frame_Shift_Del	DEL	AACCAGA	-	-			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:125058038_125058044delAACCAGA	uc003yqw.3	+	20	2826_2832	c.2620_2626delAACCAGA	c.(2620-2628)aaccagatgfs	p.N874fs		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	874	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)			TCCGACCTGGAACCAGATGCTGCTGTT	0.502													---	173	---	---	46	---					
SOS2	6655	broad.mit.edu	37	14	50616844	50616850	+	Frame_Shift_Del	DEL	GTGGACT	-	-			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:50616844_50616850delGTGGACT	uc001wxs.4	-	13	2358_2364	c.2260_2266delAGTCCAC	c.(2260-2268)agtccacctfs	p.S754fs	SOS2_uc010tql.2_Frame_Shift_Del_p.S721fs|SOS2_uc010tqm.1_Non-coding_Transcript	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	754					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding	p.P756L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATTGGTGGAGGTGGACTTTCAAAGGTA	0.406													---	83	---	---	28	---					
SV2B	9899	broad.mit.edu	37	15	91811796	91811796	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:91811796delA	uc002bqv.3	+	9	2225	c.1334delA	c.(1333-1335)gaafs	p.E445fs	SV2B_uc002bqt.3_Frame_Shift_Del_p.E445fs|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Frame_Shift_Del_p.E294fs	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	445					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTCACGATGGAAAATCAGATC	0.438													---	50	---	---	34	---					
AMZ2	51321	broad.mit.edu	37	17	66247278	66247290	+	Frame_Shift_Del	DEL	ACTCGTGGAATTT	-	-			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:66247278_66247290delACTCGTGGAATTT	uc002jgt.1	+	4	690_702	c.545_557delACTCGTGGAATTT	c.(544-558)gactcgtggaattttfs	p.D182fs	AMZ2_uc002jgs.1_Frame_Shift_Del_p.D182fs|AMZ2_uc002jgr.1_Frame_Shift_Del_p.D182fs|AMZ2_uc002jgu.1_Frame_Shift_Del_p.D182fs|AMZ2_uc002jgv.1_Frame_Shift_Del_p.D182fs|AMZ2_uc002jgw.1_Frame_Shift_Del_p.D124fs|AMZ2_uc002jgy.1_Frame_Shift_Del_p.D182fs	NM_001033570	NP_057711	Q86W34	AMZ2_HUMAN	Homo sapiens archaelysin family metallopeptidase 2 (AMZ2), transcript variant 3, mRNA.	182							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TACCCAAGAGACTCGTGGAATTTTGTCTTTGGA	0.385													---	69	---	---	13	---