Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FLNC	2318	broad.mit.edu	37	7	128480207	128480207	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:128480207G>A	ENST00000325888.8	+	9	1803	c.1542G>A	c.(1540-1542)aaG>aaA	p.K514K	FLNC_ENST00000346177.6_Silent_p.K514K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	514					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCACGGTCAAGGGGCCAAGTG	0.627000													27	67					0	0	0.006320	0	0
A1CF	29974	broad.mit.edu	37	10	52603882	52603882	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:52603882C>T	ENST00000395489.2	-	6	475	c.78_splice	c.e6-1	p.E27_splice	A1CF_ENST00000373995.3_Splice_Site_p.E42_splice|A1CF_ENST00000373997.3_Splice_Site_p.E34_splice|A1CF_ENST00000282641.2_Splice_Site_p.E34_splice|A1CF_ENST00000374001.1_Splice_Site_p.E34_splice|A1CF_ENST00000373993.1_Splice_Site_p.E34_splice|A1CF_ENST00000395495.1_Splice_Site_p.E34_splice	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	34					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E42K(2)|p.E34K(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGTCCATTTTCCTGCAAATCC	0.413000													8	14					0	0	0.003080	0	0
COASY	80347	broad.mit.edu	37	17	40714459	40714459	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:40714459C>T	ENST00000590958.1	+	2	155	c.30C>T	c.(28-30)ccC>ccT	p.P10P	COASY_ENST00000421097.2_Intron|COASY_ENST00000420359.1_5'UTR|COASY_ENST00000393818.2_5'UTR|COASY_ENST00000449624.1_Intron			Q13057	COASY_HUMAN	CoA synthase	0					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GAGCACAGCCCCGAGGCGCCG	0.637000													15	47					0	0	0.006122	0	0
CXorf67	340602	broad.mit.edu	37	X	51150031	51150031	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:51150031T>C	ENST00000342995.2	+	1	265	c.163T>C	c.(163-165)Tcg>Ccg	p.S55P						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						AGCATCTCCCTCGGGCGGCGC	0.652000													5	20					0	0	0.001168	0	0
SCN3A	6328	broad.mit.edu	37	2	165947448	165947448	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:165947448C>T	ENST00000360093.3	-	28	5706	c.5215G>A	c.(5215-5217)Gga>Aga	p.G1739R	SCN3A_ENST00000283254.7_Missense_Mutation_p.G1739R|SCN3A_ENST00000409101.3_Missense_Mutation_p.G1690R|SCN3A_ENST00000540861.1_Missense_Mutation_p.G222R|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1739						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G1739R(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCACAGTCTCCCTTAACTGAG	0.483000													8	33					0	0	0.003080	0	0
SCN10A	6336	broad.mit.edu	37	3	38793930	38793930	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:38793930C>T	ENST00000449082.2	-	11	1534	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	512					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAGATATCTCGGCCAGGGGA	0.587000													17	14					0	0	0.004007	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73944209	73944209	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:73944209C>T	ENST00000476977.1	+	9	2927	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	GTF2IRD1_ENST00000265755.3_Silent_p.I412I|GTF2IRD1_ENST00000424337.2_Silent_p.I412I|GTF2IRD1_ENST00000455841.2_Silent_p.I444I|GTF2IRD1_ENST00000489094.1_3'UTR			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	412						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGAAGCGGATCCTGGAGGAGC	0.597000													20	29					0	0	0.002780	0	0
TCF7	6932	broad.mit.edu	37	5	133473780	133473780	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:133473780C>T	ENST00000395029.1	+	4	667	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S	TCF7_ENST00000321603.6_Missense_Mutation_p.P158S|TCF7_ENST00000520958.1_Missense_Mutation_p.P43S|TCF7_ENST00000518915.1_Missense_Mutation_p.P43S|TCF7_ENST00000378560.4_Missense_Mutation_p.P43S|TCF7_ENST00000432532.2_Missense_Mutation_p.P43S|TCF7_ENST00000321584.4_Missense_Mutation_p.P158S|TCF7_ENST00000378564.1_Missense_Mutation_p.P158S|TCF7_ENST00000342854.5_Missense_Mutation_p.P158S|TCF7_ENST00000395023.1_Missense_Mutation_p.P43S			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	158					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCACGGTGTCCCCCAACTCTC	0.587000													18	27					0	0	0.002780	0	0
ADC	113451	broad.mit.edu	37	1	33583638	33583638	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:33583638G>C	ENST00000294517.6	+	11	1752	c.1165G>C	c.(1165-1167)Gcc>Ccc	p.A389P	ADC_ENST00000398167.1_Missense_Mutation_p.A409P|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.A409P|ADC_ENST00000373443.3_Missense_Mutation_p.A389P	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	389					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CAACATGGGCGCCTACACTGT	0.637000													14	45					0	0	0.002450	0	0
ASTE1	28990	broad.mit.edu	37	3	130743531	130743531	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:130743531A>G	ENST00000264992.3	-	3	1061	c.620T>C	c.(619-621)tTc>tCc	p.F207S	ASTE1_ENST00000514044.1_Missense_Mutation_p.F207S	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	207					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CATATTGCTGAAGTGATGGCA	0.403000													6	31					0	0	0.001984	0	0
NFKB1	4790	broad.mit.edu	37	4	103498131	103498131	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:103498131G>A	ENST00000226574.4	+	7	973	c.506G>A	c.(505-507)gGa>gAa	p.G169E	NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000394820.4_Missense_Mutation_p.G168E|NFKB1_ENST00000505458.1_Missense_Mutation_p.G168E	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	168	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TATAATCCTGGACTCTTGGTG	0.493000													4	29					0	0	0.000248	0	0
MN1	4330	broad.mit.edu	37	22	28192913	28192913	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr22:28192913C>T	ENST00000302326.4	-	1	4573	c.3619G>A	c.(3619-3621)Gtc>Atc	p.V1207I		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1207							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGCTCTTGACCGCCTCGGAG	0.672000			T	ETV6	"""AML, meningioma"""								4	28					0	0	0.000248	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51994940	51994940	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:51994940C>T	ENST00000291707.3	-	8	1798	c.1743G>A	c.(1741-1743)caG>caA	p.Q581Q	SIGLEC12_ENST00000598614.1_Silent_p.Q463Q	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	581					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGATGGCCTCCTGTTCCTGTG	0.582000													19	46					0	0	0.002299	0	0
DNM2	1785	broad.mit.edu	37	19	10893721	10893721	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:10893721C>T	ENST00000314646.5	+	6	938	c.774C>T	c.(772-774)ttC>ttT	p.F258F	DNM2_ENST00000389253.4_Silent_p.F258F|DNM2_ENST00000585892.1_Silent_p.F258F|DNM2_ENST00000359692.6_Silent_p.F258F|DNM2_ENST00000355667.6_Silent_p.F258F|DNM2_ENST00000408974.4_Silent_p.F258F			P50570	DYN2_HUMAN	dynamin 2	258					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGAGGAAGTTCTTCCTCTCCC	0.592000			"""F, N, Splice, Mis, O"""		ETP ALL								9	38					0	0	0.006214	0	0
OR2L3	391192	broad.mit.edu	37	1	248224006	248224006	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:248224006C>T	ENST00000359959.3	+	1	23	c.23C>T	c.(22-24)tCa>tTa	p.S8L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AATCAAACATCAACTGATTTC	0.393000													42	72					0	0	0.002222	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476850	42476850	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:42476850G>A	ENST00000434000.1	-	9	2643	c.2361C>T	c.(2359-2361)tcC>tcT	p.S787S	GPATCH8_ENST00000591680.1_Silent_p.S865S			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	865						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AACGCCGGGAGGAACGATGCG	0.542000													12	70					0	0	0.000978	0	0
MUTYH	4595	broad.mit.edu	37	1	45799205	45799205	+	Silent	SNP	T	T	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:45799205T>A	ENST00000450313.1	-	3	443	c.228A>T	c.(226-228)gtA>gtT	p.V76V	MUTYH_ENST00000372100.5_Silent_p.V59V|MUTYH_ENST00000354383.6_Silent_p.V49V|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372104.1_Silent_p.V48V|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000372110.3_Silent_p.V63V|MUTYH_ENST00000448481.1_Silent_p.V59V|MUTYH_ENST00000355498.2_Silent_p.V48V|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000372115.3_Silent_p.V62V|MUTYH_ENST00000372098.3_Silent_p.V73V|MUTYH_ENST00000456914.2_Silent_p.V48V	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	73					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					AGGCCTGCAATACCACCTCTT	0.592000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				19	25					0	0	0.007413	0	0
MUC2	4583	broad.mit.edu	37	11	1097261	1097261	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:1097261T>C	ENST00000441003.2	+	35	6704	c.6677T>C	c.(6676-6678)gTg>gCg	p.V2226A	MUC2_ENST00000361558.6_Missense_Mutation_p.V364A	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4588						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ATCAACTACGTGGTGGACATC	0.612000													15	10					0	0	0.003163	0	0
ARPC1B	10095	broad.mit.edu	37	7	98988584	98988584	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:98988584C>T	ENST00000451682.1	+	8	878	c.569C>T	c.(568-570)cCc>cTc	p.P190L	ARPC1B_ENST00000252725.5_Missense_Mutation_p.P190L			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	190					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCAAGATGCCCTTTGGGGAA	0.592000													25	55					0	0	0.003954	0	0
ZNF555	148254	broad.mit.edu	37	19	2851627	2851627	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:2851627A>G	ENST00000334241.4	+	3	430	c.292A>G	c.(292-294)Aca>Gca	p.T98A	ZNF555_ENST00000591539.1_Missense_Mutation_p.T98A|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		AGATCAAACCACAAACCAGGG	0.393000													3	18					0	0	0.004672	0	0
MYH4	4622	broad.mit.edu	37	17	10364279	10364279	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:10364279G>A	ENST00000255381.2	-	12	1211	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	367	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTTTTGCTTGAATTTCATGT	0.478000													23	36					0	0	0.003954	0	0
MEX3A	92312	broad.mit.edu	37	1	156046378	156046378	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:156046378C>T	ENST00000532414.2	-	2	1549	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q		NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	517						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GGAGAATATTCGGATGGCTTG	0.587000													24	44					0	0	0.004656	0	0
SPTA1	6708	broad.mit.edu	37	1	158612245	158612245	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:158612245G>A	ENST00000368148.3	-	33	4873	c.4693C>T	c.(4693-4695)Ctg>Ttg	p.L1565L	SPTA1_ENST00000368147.3_Silent_p.L1565L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1565					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACTCAATCAGGGAGTTCCCC	0.473000													18	20					0	0	0.007413	0	0
C1GALT1	56913	broad.mit.edu	37	7	7278375	7278375	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:7278375C>T	ENST00000436587.2	+	3	933	c.710C>T	c.(709-711)tCc>tTc	p.S237F	C1GALT1_ENST00000402468.3_Missense_Mutation_p.S237F|C1GALT1_ENST00000223122.2_Missense_Mutation_p.S237F	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	237					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		CATAGTTCCTCCATTGAAGAC	0.403000													9	26					0	0	0.004482	0	0
LSM14B	149986	broad.mit.edu	37	20	60705702	60705702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr20:60705702C>T	ENST00000253001.4	+	6	996	c.790C>T	c.(790-792)Cga>Tga	p.R264*	LSM14B_ENST00000279068.6_Nonsense_Mutation_p.R264*			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	264	DFDF.				multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCAGTTCAACCGAGAGGAGCT	0.403000													14	26					0	0	0.003163	0	0
CCDC11	220136	broad.mit.edu	37	18	47778002	47778002	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr18:47778002C>T	ENST00000398545.4	-	4	743	c.626G>A	c.(625-627)cGa>cAa	p.R209Q		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	209										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CTTGGCTAATCGGTCTTCCTC	0.527000													55	75					0	0	0.003610	0	0
GK2	2712	broad.mit.edu	37	4	80328679	80328679	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:80328679G>A	ENST00000358842.3	-	1	693	c.676C>T	c.(676-678)Cca>Tca	p.P226S		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	226					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.P226S(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AGGTCCATTGGAATTTCAAAA	0.408000													8	19					0	0	0.003080	0	0
PARP1	142	broad.mit.edu	37	1	226566965	226566965	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:226566965G>A	ENST00000366794.5	-	12	1766	c.1623C>T	c.(1621-1623)caC>caT	p.H541H		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	541					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CATGCGCAGAGTGTTCCAGTC	0.547000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					20	101					0	0	0.003954	0	0
NPLOC4	55666	broad.mit.edu	37	17	79573742	79573742	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:79573742G>A	ENST00000374747.5	-	7	758	c.629C>T	c.(628-630)cCg>cTg	p.P210L	NPLOC4_ENST00000539314.1_Missense_Mutation_p.P49L|NPLOC4_ENST00000331134.6_Missense_Mutation_p.P210L|NPLOC4_ENST00000574344.1_5'UTR			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	210					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GATGGCGCTCGGCTGGCACTT	0.532000													14	24					0	0	0.003163	0	0
LONRF2	164832	broad.mit.edu	37	2	100919490	100919490	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:100919490C>T	ENST00000393437.3	-	3	1453	c.814G>A	c.(814-816)Gct>Act	p.A272T	LONRF2_ENST00000409647.1_Missense_Mutation_p.A29T	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	272					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						AGAGCCTGAGCTTTTACTTGA	0.368000													6	65					0	0	0.001168	0	0
TTYH1	57348	broad.mit.edu	37	19	54930426	54930426	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:54930426C>T	ENST00000301194.4	+	2	373	c.251C>T	c.(250-252)tCg>tTg	p.S84L	TTYH1_ENST00000376531.3_Missense_Mutation_p.S84L|TTYH1_ENST00000391739.3_Missense_Mutation_p.S133L|TTYH1_ENST00000376530.3_Missense_Mutation_p.S84L			Q9H313	TTYH1_HUMAN	tweety family member 1	84					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		AAGATCCCCTCGCCCGGGGGA	0.706000													6	27					0	0	0.001168	0	0
SSX9	280660	broad.mit.edu	37	X	48163767	48163767	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:48163767C>T	ENST00000376909.1	-	3	141	c.79G>A	c.(79-81)Gat>Aat	p.D27N	SSX9_ENST00000407081.2_Missense_Mutation_p.D27N																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGCAATATCATCGAAGGCC	0.428000													13	35					0	0	0.001855	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6114543	6114543	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:6114543G>A	ENST00000409021.3	-	2	484	c.35C>T	c.(34-36)cCc>cTc	p.P12L	JAKMIP1_ENST00000282924.5_Missense_Mutation_p.P12L|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.P12L|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.P12L|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.P12L	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	12	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCCATCTCGGGCTTCTCGCC	0.612000													9	25					0	0	0.006214	0	0
IQCF3	401067	broad.mit.edu	37	3	51863696	51863696	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:51863696G>A	ENST00000456080.1	+	7	1199	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	IQCF3_ENST00000446775.1_Missense_Mutation_p.E12K|IQCF3_ENST00000437810.2_Missense_Mutation_p.E12K|IQCF3_ENST00000440739.2_Missense_Mutation_p.E12K|IQCF3_ENST00000444293.1_Missense_Mutation_p.E12K			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	12										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGGTCCAGATGAAGATGCAGT	0.527000													4	17					0	0	0.000248	0	0
ARPC1B	10095	broad.mit.edu	37	7	98988585	98988585	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:98988585C>T	ENST00000451682.1	+	8	879	c.570C>T	c.(568-570)ccC>ccT	p.P190P	ARPC1B_ENST00000252725.5_Silent_p.P190P			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	190					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CCAAGATGCCCTTTGGGGAAC	0.587000													25	56					0	0	0.003954	0	0
NRP2	8828	broad.mit.edu	37	2	206641046	206641046	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:206641046C>T	ENST00000357118.4	+	16	2533	c.2502C>T	c.(2500-2502)taC>taT	p.Y834Y	NRP2_ENST00000357785.5_Intron|NRP2_ENST00000272849.3_Silent_p.Y839Y|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000412873.2_Intron	NM_201267.1	NP_957719.1	O60462	NRP2_HUMAN	neuropilin 2	0					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACTGGTATTACGTAATGGCCG	0.662000											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	40					0	0	0.002780	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16816142	16816142	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:16816142G>A	ENST00000355661.3	-	19	2648	c.2638C>T	c.(2638-2640)Cga>Tga	p.R880*	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Nonsense_Mutation_p.R880*|PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.R880*			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	880	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGGAAGAGTCGAACCTCCAGA	0.622000													25	40					0	0	0.003330	0	0
VWA5A	4013	broad.mit.edu	37	11	123988472	123988472	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:123988472C>T	ENST00000456829.2	+	4	387	c.136C>T	c.(136-138)Cct>Tct	p.P46S	VWA5A_ENST00000361352.5_Missense_Mutation_p.P46S|VWA5A_ENST00000360334.4_Missense_Mutation_p.P46S|VWA5A_ENST00000449321.1_Missense_Mutation_p.P46S|VWA5A_ENST00000392744.4_Missense_Mutation_p.P62S|VWA5A_ENST00000392748.1_Missense_Mutation_p.P46S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	46	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GGAGAAAGTTCCTTTGGAGGC	0.458000													28	38					0	0	0.002445	0	0
CDCP1	64866	broad.mit.edu	37	3	45130573	45130573	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:45130573C>T	ENST00000296129.1	-	8	2188	c.2054G>A	c.(2053-2055)gGg>gAg	p.G685E		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	685						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AATGATGAGCCCGAGGGCAGA	0.483000													5	24					0	0	0.000602	0	0
CNTN1	1272	broad.mit.edu	37	12	41333227	41333227	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:41333227C>T	ENST00000551295.2	+	12	1436	c.1319C>T	c.(1318-1320)gCt>gTt	p.A440V	CNTN1_ENST00000547849.1_Missense_Mutation_p.A440V|CNTN1_ENST00000547702.1_Missense_Mutation_p.A440V|CNTN1_ENST00000348761.2_Missense_Mutation_p.A429V|CNTN1_ENST00000360099.3_Missense_Mutation_p.A440V|CNTN1_ENST00000347616.1_Missense_Mutation_p.A440V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	440	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAACCTAAAGCTGCACCGAAA	0.403000													3	7					0	0	0.000248	0	0
KCNT1	57582	broad.mit.edu	37	9	138657500	138657500	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:138657500G>A	ENST00000298480.5	+	13	1305	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	KCNT1_ENST00000371757.2_Missense_Mutation_p.E411K|KCNT1_ENST00000263604.3_Missense_Mutation_p.E392K|KCNT1_ENST00000488444.2_Missense_Mutation_p.E392K|KCNT1_ENST00000490355.2_Missense_Mutation_p.E392K|KCNT1_ENST00000491806.2_Missense_Mutation_p.E378K|KCNT1_ENST00000487664.1_Missense_Mutation_p.E366K|KCNT1_ENST00000486577.2_Missense_Mutation_p.E372K			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	411						membrane	binding|calcium-activated potassium channel activity	p.E411K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GTGCCCCACGGAGATGGATGT	0.662000													4	9					0	0	0.000248	0	0
ZNF79	7633	broad.mit.edu	37	9	130206524	130206524	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:130206524C>T	ENST00000342483.5	+	5	951	c.545C>T	c.(544-546)tCg>tTg	p.S182L	ZNF79_ENST00000543471.1_Missense_Mutation_p.S158L	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						TTCAAGAACTCGGAAATCCTG	0.488000													29	13					0	0	0.007291	0	0
LPHN1	22859	broad.mit.edu	37	19	14266174	14266174	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:14266174C>T	ENST00000340736.6	-	19	3603	c.3306G>A	c.(3304-3306)aaG>aaA	p.K1102K	LPHN1_ENST00000361434.3_Silent_p.K1097K|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1102					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCTCACCTTCTTCTGTAAGG	0.592000													33	66					0	0	0.006230	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148800398	148800398	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:148800398G>A	ENST00000336498.3	+	9	1087	c.848G>A	c.(847-849)gGt>gAt	p.G283D		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	283	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GCTCCGTTTGGTTCCAGTTGG	0.388000													20	33					0	0	0.008871	0	0
CLC	1178	broad.mit.edu	37	19	40222086	40222086	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:40222086C>T	ENST00000221804.4	-	4	438	c.363G>A	c.(361-363)gtG>gtA	p.V121V		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	121	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		GCACCATCTTCACAGCCTCAG	0.408000													8	51					0	0	0.003080	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460052	107460052	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:107460052C>T	ENST00000409382.3	-	2	992	c.382G>A	c.(382-384)Gat>Aat	p.D128N	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.D128N|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.D128N	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	128					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.D128N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TAGTCGTCATCCTCCGGGTAG	0.552000													26	108					0	0	0.004656	0	0
ZYX	7791	broad.mit.edu	37	7	143087006	143087006	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:143087006G>A	ENST00000322764.5	+	9	1895	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q	ZYX_ENST00000392910.2_Missense_Mutation_p.R360Q|ZYX_ENST00000449423.2_Missense_Mutation_p.R430Q	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	517	LIM zinc-binding 3.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GAGCCTGGCCGAGATGAGACT	0.597000													21	56					0	0	0.001882	0	0
MIR891A	100126341	broad.mit.edu	37	X	145109374	145109374	+	RNA	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:145109374C>T	ENST00000401237.1	-	0	16					NR_030581.1																						GGCTCAGGTTCGTTGCAAGGA	0.388000													4	16					0	0	0.000248	0	0
SCN8A	6334	broad.mit.edu	37	12	52159762	52159762	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:52159762C>T	ENST00000354534.5	+	16	3030	c.2852C>T	c.(2851-2853)gCc>gTc	p.A951V	SCN8A_ENST00000550891.1_Missense_Mutation_p.A951V|SCN8A_ENST00000545061.1_Missense_Mutation_p.A951V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	951					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCAGGCCAGGCCATGTGCCTC	0.448000													71	100					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9066695	9066695	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:9066695C>T	ENST00000397910.4	-	3	20954	c.20751G>A	c.(20749-20751)atG>atA	p.M6917I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6919	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						AGGTGGTATCCATTGGAGCTG	0.463000													21	130					0	0	0.003330	0	0
LAMA1	284217	broad.mit.edu	37	18	6978348	6978348	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr18:6978348C>T	ENST00000389658.3	-	43	6130	c.6037G>A	c.(6037-6039)Gag>Aag	p.E2013K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2013	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGGCCAGCTCTTTGGTTTTG	0.507000													27	47					0	0	0.007291	0	0
PSG2	5670	broad.mit.edu	37	19	43585315	43585315	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:43585315C>T	ENST00000406487.1	-	2	246	c.148G>A	c.(148-150)Gat>Aat	p.D50N		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	50	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGAAGAACATCCTTCCCCTCG	0.473000													13	74					0	0	0.002780	0	0
EPHB1	2047	broad.mit.edu	37	3	134898712	134898712	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:134898712G>A	ENST00000398015.3	+	10	2140	c.1770G>A	c.(1768-1770)ggG>ggA	p.G590G	EPHB1_ENST00000493838.1_Silent_p.G151G	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	590						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCTCCCCAGGGATGAAGATCT	0.488000													43	59					0	0	0.003610	0	0
GALNT6	11226	broad.mit.edu	37	12	51759262	51759262	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:51759262C>T	ENST00000543196.2	-	4	971	c.766G>A	c.(766-768)Ggg>Agg	p.G256R	GALNT6_ENST00000356317.3_Missense_Mutation_p.G256R			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	256	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACGCTGGCCCCCAGCAGCCGG	0.662000													26	26					0	0	0.006320	0	0
DNAH3	55567	broad.mit.edu	37	16	21122990	21122990	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:21122990G>A	ENST00000261383.3	-	14	2055	c.2056C>T	c.(2056-2058)Ctg>Ttg	p.L686L	DNAH3_ENST00000415178.1_Silent_p.L686L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	686	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)		AATTGAATCAGATGGTCTTTA	0.438000													4	29					0	0	0.000602	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672055	39672055	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr21:39672055G>A	ENST00000398930.1	+	4	1226	c.872G>A	c.(871-873)aGc>aAc	p.S291N	KCNJ15_ENST00000398934.1_Missense_Mutation_p.S291N|KCNJ15_ENST00000398932.1_Missense_Mutation_p.S291N|KCNJ15_ENST00000398938.2_Missense_Mutation_p.S291N|KCNJ15_ENST00000328656.3_Missense_Mutation_p.S291N			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	291					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GAATCCACCAGCGCTGTCTGC	0.498000													6	28					0	0	0.001168	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954507	35954507	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:35954507C>T	ENST00000274278.3	-	7	1726	c.1369G>A	c.(1369-1371)Ggc>Agc	p.G457S		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	457						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCGATCCAGCCCACCAGCCGC	0.607000													6	18					0	0	0.001168	0	0
ACPL2	92370	broad.mit.edu	37	3	141011771	141011771	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:141011771G>A	ENST00000508812.1	+	5	3047	c.1140G>A	c.(1138-1140)ttG>ttA	p.L380L	ACPL2_ENST00000393010.2_Silent_p.L389L|ACPL2_ENST00000393007.1_Silent_p.L373L|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000504264.1_Silent_p.L372L|ACPL2_ENST00000502783.1_Silent_p.L351L|ACPL2_ENST00000286353.4_Silent_p.L389L			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	389						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						TCAGTGCCTTGGGCCTTTCAG	0.537000													23	103					0	0	0.004656	0	0
GNPAT	8443	broad.mit.edu	37	1	231403528	231403528	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:231403528G>T	ENST00000366647.4	+	9	1327	c.1158G>T	c.(1156-1158)tgG>tgT	p.W386C	GNPAT_ENST00000366646.3_Missense_Mutation_p.W325C	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	386					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TGAGCCCCTGGACCCTAATAG	0.453000													34	62					1.45844e-13	2.51016e-13	0.002836	1	0
PCNT	5116	broad.mit.edu	37	21	47841920	47841920	+	Missense_Mutation	SNP	G	G	A	rs144775948		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr21:47841920G>A	ENST00000359568.5	+	32	7168	c.7061G>A	c.(7060-7062)gGg>gAg	p.G2354E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2354					cilium assembly|G2/M transition of mitotic cell cycle	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)					CTGAGCCCGGGGTCAGGAGGC	0.617000													14	59					0	0	0.003163	0	0
DSCAML1	57453	broad.mit.edu	37	11	117329567	117329567	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:117329567C>T	ENST00000321322.6	-	19	3652	c.3651G>A	c.(3649-3651)atG>atA	p.M1217I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.M947I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1157	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGAACTTCTCCATGCCCCGCA	0.632000													22	32					0	0	0.002299	0	0
MB21D1	115004	broad.mit.edu	37	6	74155279	74155279	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:74155279G>A	ENST00000370315.3	-	2	943	c.849C>T	c.(847-849)atC>atT	p.I283I	MB21D1_ENST00000370318.1_Silent_p.I283I	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN	Mab-21 domain containing 1	283										central_nervous_system(1)|large_intestine(4)|lung(1)	6						CTTCCTTAATGATTTTCCTAA	0.308000													12	17					0	0	0.001368	0	0
VIPR2	7434	broad.mit.edu	37	7	158829468	158829468	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:158829468G>A	ENST00000262178.2	-	7	908	c.723C>T	c.(721-723)ttC>ttT	p.F241F	VIPR2_ENST00000377633.3_Silent_p.F225F|VIPR2_ENST00000402066.1_Silent_p.F382F	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	241					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)		GGTAGGCCAGGAAGCACCTTC	0.582000													8	20					0	0	0.003080	0	0
JPH3	57338	broad.mit.edu	37	16	87678398	87678398	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:87678398C>T	ENST00000284262.2	+	2	1159	c.917C>T	c.(916-918)tCg>tTg	p.S306L		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	306					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGCCAGCGCTCGGACGGGCTC	0.657000													9	30					0	0	0.006214	0	0
SDE2	163859	broad.mit.edu	37	1	226179048	226179048	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:226179048G>A	ENST00000272091.7	-	5	555	c.537C>T	c.(535-537)tcC>tcT	p.S179S	SDE2_ENST00000366817.1_Silent_p.S84S	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		CCATCTTGCTGGAGGCAGCCT	0.418000													16	44					0	0	0.004990	0	0
SULT1C3	442038	broad.mit.edu	37	2	108868931	108868931	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:108868931C>T	ENST00000376700.1	+	2	283	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	SULT1C3_ENST00000329106.2_Missense_Mutation_p.P95S			Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	95						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ACTGAAATTTCCCCATAAAGA	0.398000													4	8					0	0	0.000602	0	0
HN1L	90861	broad.mit.edu	37	16	1747840	1747840	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:1747840G>A	ENST00000248098.3	+	4	421	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	HN1L_ENST00000562684.1_Missense_Mutation_p.E150K|HN1L_ENST00000561516.1_3'UTR|HN1L_ENST00000382711.5_Missense_Mutation_p.E106K|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000382710.4_Missense_Mutation_p.E110K|HN1L_ENST00000569765.1_3'UTR	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	122						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGAAGGAGAAGAACCAAAATC	0.403000													28	64					0	0	0.001786	0	0
PON3	5446	broad.mit.edu	37	7	94991698	94991698	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:94991698G>A	ENST00000265627.5	-	8	892	c.882C>T	c.(880-882)aaC>aaT	p.N294N	PON3_ENST00000427422.1_Intron|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			GGTCCTCAGGGTTATAGTTCA	0.463000													10	18					0	0	0.008291	0	0
RELN	5649	broad.mit.edu	37	7	103126753	103126753	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:103126753C>T	ENST00000428762.1	-	61	10033	c.9874G>A	c.(9874-9876)Gga>Aga	p.G3292R	RELN_ENST00000343529.5_Missense_Mutation_p.G3292R|RELN_ENST00000424685.2_Missense_Mutation_p.G3292R|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3292					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGCCACTTCCTATGACTCCA	0.507000													19	32					0	0	0.008871	0	0
FRS3	10817	broad.mit.edu	37	6	41738653	41738653	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:41738653C>T	ENST00000373018.3	-	7	1434	c.1183G>A	c.(1183-1185)Ggc>Agc	p.G395S	FRS3_ENST00000259748.2_Missense_Mutation_p.G395S	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	395					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTGGGGAGCCGCGGCGGCGG	0.662000													48	25					0	0	0.003610	0	0
BCAT1	586	broad.mit.edu	37	12	25031484	25031484	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:25031484G>A	ENST00000261192.7	-	5	1016	c.490C>T	c.(490-492)Cct>Tct	p.P164S	BCAT1_ENST00000539282.1_Missense_Mutation_p.P176S|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Missense_Mutation_p.P127S|BCAT1_ENST00000538118.1_Missense_Mutation_p.P163S|BCAT1_ENST00000342945.5_Missense_Mutation_p.P103S	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	164					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	ATGAATGTAGGACGAATATAC	0.368000													3	16					0	0	0.000248	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999751	72999751	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr18:72999751G>A	ENST00000322038.5	+	2	2838	c.2254G>A	c.(2254-2256)Gcc>Acc	p.A752T	TSHZ1_ENST00000580243.1_Missense_Mutation_p.A797T	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	797						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCAGGCCGATGCCATCGACCG	0.582000													11	31					0	0	0.001855	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104302	142104302	+	RNA	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:142104302G>A	ENST00000390379.1	-	0	162																											GGGTCTTGTCGATACCAGGAC	0.507000													22	81					0	0	0.002299	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111956662	111956662	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:111956662G>A	ENST00000374566.3	-	21	2578	c.2061C>T	c.(2059-2061)ctC>ctT	p.L687L		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	687						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTCTGGAGGGAGGTCGTCTT	0.572000													26	32					0	0	0.005443	0	0
ARIH2	10425	broad.mit.edu	37	3	49002366	49002366	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:49002366C>T	ENST00000356401.4	+	5	677	c.338C>T	c.(337-339)tCt>tTt	p.S113F	ARIH2_ENST00000449376.1_Missense_Mutation_p.S113F|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	113					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		AAGTCCAATTCTGCTCAACTG	0.388000													6	36					0	0	0.001168	0	0
MGAM	8972	broad.mit.edu	37	7	141731504	141731504	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:141731504C>T	ENST00000475668.2	+	13	1549	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S	MGAM_ENST00000549489.2_Missense_Mutation_p.P499S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	499	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)	AACTGTGTTTCCTGATTATAC	0.363000													13	31					0	0	0.004990	0	0
SLC36A3	285641	broad.mit.edu	37	5	150663628	150663628	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:150663628G>A	ENST00000335230.3	-	8	1362	c.951C>T	c.(949-951)atC>atT	p.I317I	SLC36A3_ENST00000377713.3_Silent_p.I358I	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	317						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTGAGGGTGATGCTGGCCT	0.502000													24	31					0	0	0.005443	0	0
DDX4	54514	broad.mit.edu	37	5	55081648	55081648	+	Nonsense_Mutation	SNP	C	C	G	rs146554855		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:55081648C>G	ENST00000505374.1	+	13	905	c.813C>G	c.(811-813)taC>taG	p.Y271*	DDX4_ENST00000354991.5_Nonsense_Mutation_p.Y237*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.Y251*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.Y237*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.Y122*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	271					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TCGACAAATACGACACTATTC	0.433000													4	13					0	0	0.000248	0	0
CXorf56	63932	broad.mit.edu	37	X	118699269	118699269	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:118699269C>A	ENST00000371594.4	-	1	128	c.50G>T	c.(49-51)cGg>cTg	p.R17L	CXorf56_ENST00000486230.1_Missense_Mutation_p.R17L|CXorf56_ENST00000476164.1_Missense_Mutation_p.R17L|CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000536133.1_Missense_Mutation_p.R17L	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	17							protein binding			cervix(1)|endometrium(2)|lung(7)	10						ATATTCCTCCCGGTCCCGAGT	0.572000													12	51					4.3838e-07	7.51237e-07	0.001855	1	0
FBXO10	26267	broad.mit.edu	37	9	37521707	37521707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:37521707G>A	ENST00000432825.2	-	8	2107	c.2059C>T	c.(2059-2061)Cga>Tga	p.R687*	FBXO10_ENST00000541829.1_Nonsense_Mutation_p.R212*|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	687						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CTGTGGCCTCGAGGTAACTCG	0.602000													17	11					0	0	0.001523	0	0
PLA2R1	22925	broad.mit.edu	37	2	160889546	160889546	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:160889546C>T	ENST00000283243.7	-	4	971	c.765G>A	c.(763-765)gaG>gaA	p.E255E	PLA2R1_ENST00000392771.1_Silent_p.E255E	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	255	C-type lectin 1.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AAGAATGTGCCTCACTCCAAG	0.433000													9	42					0	0	0.006214	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48602289	48602289	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:48602289G>A	ENST00000323776.5	+	13	1978	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E569K	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	569					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGTGCTGCAGGAGCTGCTGAT	0.587000													10	60					0	0	0.008291	0	0
KCNK17	89822	broad.mit.edu	37	6	39272382	39272382	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:39272382G>A	ENST00000453413.2	-	3	542	c.402C>T	c.(400-402)atC>atT	p.I134I	KCNK17_ENST00000373231.4_Silent_p.I134I	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	134						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GGGCAAAGAAGATGCAGAAGA	0.622000													67	56					0	0	0.003610	0	0
OR1G1	8390	broad.mit.edu	37	17	3030585	3030585	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:3030585G>A	ENST00000328890.2	-	1	290	c.261C>T	c.(259-261)atC>atT	p.I87I		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CCTGACTCTGGATCTGTATGT	0.483000													19	23					0	0	0.007413	0	0
KCNH6	81033	broad.mit.edu	37	17	61601675	61601675	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:61601675G>A	ENST00000583023.1	+	2	263	c.252G>A	c.(250-252)caG>caA	p.Q84Q	KCNH6_ENST00000580652.1_Silent_p.Q84Q|KCNH6_ENST00000456941.2_Silent_p.Q84Q|KCNH6_ENST00000581784.1_Silent_p.Q84Q|KCNH6_ENST00000314672.5_Silent_p.Q84Q	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	84					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCCTAGCGCAGGCCCTGCTGG	0.637000													20	42					0	0	0.002780	0	0
LIG4	3981	broad.mit.edu	37	13	108861056	108861056	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr13:108861056G>A	ENST00000356922.4	-	2	2833	c.2561C>T	c.(2560-2562)tCt>tTt	p.S854F	LIG4_ENST00000442234.1_Missense_Mutation_p.S854F|LIG4_ENST00000405925.1_Missense_Mutation_p.S854F	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	854	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGCTAAACAAGAAACTACTTT	0.373000								Non-homologous end-joining					19	31					0	0	0.002299	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115534631	115534631	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:115534631G>A	ENST00000354462.3	+	3	216	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	PLEKHS1_ENST00000361048.1_Missense_Mutation_p.E276K|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.E188K|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.E270K|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.E90K					pleckstrin homology domain containing, family S member 1																		CAGCAAAGAGGAACCCCAGAC	0.468000													10	28					0	0	0.001855	0	0
TNXB	7148	broad.mit.edu	37	6	32037579	32037579	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:32037579C>T	ENST00000375244.3	-	15	5539	c.5338G>A	c.(5338-5340)Gag>Aag	p.E1780K	TNXB_ENST00000375247.2_Missense_Mutation_p.E1780K			P22105	TENX_HUMAN	tenascin XB	1862	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.E1867K(1)|p.E1780K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCAGCTCCTCCCCCAGACGG	0.577000													207	139					0	0	0.003610	0	0
DNAH9	1770	broad.mit.edu	37	17	11757400	11757400	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:11757400G>A	ENST00000262442.3	+	50	9656	c.9588G>A	c.(9586-9588)atG>atA	p.M3196I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M3196I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3196	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)		TGGTACTGATGGCTCCCAGGG	0.562000													9	30					0	0	0.004482	0	0
ADARB1	104	broad.mit.edu	37	21	46596523	46596523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr21:46596523C>T	ENST00000539173.1	+	4	1342	c.907C>T	c.(907-909)Cag>Tag	p.Q303*	ADARB1_ENST00000348831.4_Nonsense_Mutation_p.Q303*|ADARB1_ENST00000360697.3_Nonsense_Mutation_p.Q303*|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000389863.4_Nonsense_Mutation_p.Q303*	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	303					adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GCACTTGGATCAGACGCCATC	0.547000													13	57					0	0	0.001855	0	0
MEOX2	4223	broad.mit.edu	37	7	15652164	15652164	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:15652164G>A	ENST00000262041.5	-	3	1172	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	255					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TCCTTTTCCCGAGCCGCAGCT	0.512000													35	45					0	0	0.003755	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995727	140995727	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:140995727C>T	ENST00000285879.4	+	4	2823	c.2537C>T	c.(2536-2538)tCc>tTc	p.S846F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	846							protein binding	p.P847fs*9(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAAGAGTTCCCCTGAGAGT	0.527000										HNSCC(15;0.026)			30	81					0	0	0.001786	0	0
CCDC6	8030	broad.mit.edu	37	10	61572503	61572503	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:61572503C>T	ENST00000263102.6	-	5	968	c.737G>A	c.(736-738)aGa>aAa	p.R246K		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	246						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		GGAGATATCTCTAGGCGATGG	0.408000			T	RET	NSCLC								5	13					0	0	0.000602	0	0
SEZ6	124925	broad.mit.edu	37	17	27284987	27284987	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:27284987C>T	ENST00000317338.12	-	11	2708	c.2280G>A	c.(2278-2280)gaG>gaA	p.E760E	SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Silent_p.E760E|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Silent_p.E760E			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	760	Sushi 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AGGGCAGGTCCTCACTCCAAG	0.562000													7	19					0	0	0.003080	0	0
SYT3	84258	broad.mit.edu	37	19	51135778	51135778	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:51135778C>T	ENST00000338916.4	-	2	1072	c.439G>A	c.(439-441)Gag>Aag	p.E147K	SYT3_ENST00000593901.1_Missense_Mutation_p.E147K|SYT3_ENST00000544769.1_Missense_Mutation_p.E147K|SYT3_ENST00000600079.1_Missense_Mutation_p.E147K	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	147						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CTGCCTGGCTCCAGCAGCTCA	0.677000													3	11					0	0	0.004672	0	0
OR52N2	390077	broad.mit.edu	37	11	5842082	5842082	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:5842082G>A	ENST00000317037.2	+	1	539	c.517G>A	c.(517-519)Ggg>Agg	p.G173R	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATTGCCGGGGGAACTTCAT	0.517000													9	15					0	0	0.004482	0	0
C1orf177	163747	broad.mit.edu	37	1	55279566	55279566	+	Missense_Mutation	SNP	T	T	G	rs142853163		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:55279566T>G	ENST00000358193.3	+	7	896	c.842T>G	c.(841-843)gTt>gGt	p.V281G	C1orf177_ENST00000371273.3_Missense_Mutation_p.V281G	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	281										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AAGCATGGGGTTTTTTCTAAA	0.443000													13	68					0	0	0.001855	0	0
PHKA1	5255	broad.mit.edu	37	X	71887314	71887314	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:71887314C>T	ENST00000373545.3	-	7	1066	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	PHKA1_ENST00000541944.1_Missense_Mutation_p.E210K|PHKA1_ENST00000373542.4_Missense_Mutation_p.E210K|PHKA1_ENST00000373539.3_Missense_Mutation_p.E210K|PHKA1_ENST00000339490.3_Missense_Mutation_p.E210K			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	210					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TCTAATGCTTCCAGGGCTGCC	0.408000													7	21					0	0	0.003080	0	0
C6orf222	389384	broad.mit.edu	37	6	36287211	36287211	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:36287211G>A	ENST00000437635.2	-	11	2022	c.1845C>T	c.(1843-1845)aaC>aaT	p.N615N		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	615										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TGGCATGGCTGTTGCTGCCAG	0.562000													72	48					0	0	0.003610	0	0
CTBS	1486	broad.mit.edu	37	1	85029075	85029075	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:85029075G>A	ENST00000370630.4	-	6	870	c.822C>T	c.(820-822)gtC>gtT	p.V274V	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	274			V -> I (in dbSNP:rs15911).			lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		CCCGGAAAGGGACTTTTGCAA	0.383000													4	27					0	0	0.000248	0	0
NRAP	4892	broad.mit.edu	37	10	115401183	115401183	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:115401183C>T	ENST00000369358.4	-	13	1508	c.1264G>A	c.(1264-1266)Gga>Aga	p.G422R	NRAP_ENST00000369360.3_Missense_Mutation_p.G387R|NRAP_ENST00000359988.3_Missense_Mutation_p.G422R|NRAP_ENST00000360478.3_Missense_Mutation_p.G387R			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	422						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATACCAACTCCTTCATAGCGG	0.463000													8	20					0	0	0.006214	0	0
ABCB11	8647	broad.mit.edu	37	2	169836414	169836414	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:169836414G>A	ENST00000263817.6	-	11	1283	c.1159C>T	c.(1159-1161)Cgt>Tgt	p.R387C		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	387					bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GCTGCTGCACGTCCAGTTGCA	0.453000													4	10					0	0	0.000602	0	0
SLC25A6	293	broad.mit.edu	37	X	1508348	1508348	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:1508348G>A	ENST00000381401.5	-	2	1098	c.384C>T	c.(382-384)ctC>ctT	p.L128L	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	128					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	ACACGAAGCAGAGGGAGGTCG	0.662000													11	113					0	0	0.000978	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997268	146997268	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:146997268C>T	ENST00000361727.3	+	9	1900	c.1384C>T	c.(1384-1386)Cgc>Tgc	p.R462C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	462	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCACGAGGTTCGCTTCCTAGC	0.403000										HNSCC(39;0.1)			14	17					0	0	0.007413	0	0
PHF8	23133	broad.mit.edu	37	X	54020145	54020145	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:54020145C>T	ENST00000338154.6	-	13	2019	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	PHF8_ENST00000322659.8_Silent_p.E505E|PHF8_ENST00000357988.5_Silent_p.E541E|PHF8_ENST00000338946.6_Intron	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	541					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGCCCTTTCGCTCTGCCTTCT	0.517000													10	49					0	0	0.006214	0	0
AP3D1	8943	broad.mit.edu	37	19	2115263	2115263	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:2115263G>A	ENST00000355272.6	-	20	2510	c.2304C>T	c.(2302-2304)atC>atT	p.I768I	AP3D1_ENST00000350812.6_Silent_p.I599I|AP3D1_ENST00000356926.4_Silent_p.I677I|AP3D1_ENST00000345016.5_Silent_p.I768I	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	768					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		GGGCAGGGGCGATGTCCTCGT	0.597000													4	24					0	0	0.000248	0	0
DPP10	57628	broad.mit.edu	37	2	116538498	116538498	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:116538498C>T	ENST00000410059.1	+	16	1890	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	DPP10_ENST00000409163.1_Silent_p.F420F|DPP10_ENST00000393147.2_Silent_p.F474F|DPP10_ENST00000310323.8_Silent_p.F463F	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	470					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CATGTAATTTCATGAAAGAAC	0.308000													5	19					0	0	0.001168	0	0
FBN3	84467	broad.mit.edu	37	19	8146297	8146297	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:8146297G>A	ENST00000600128.1	-	58	7695	c.7281C>T	c.(7279-7281)ttC>ttT	p.F2427F	FBN3_ENST00000601739.1_Silent_p.F2427F|FBN3_ENST00000270509.2_Silent_p.F2427F			Q75N90	FBN3_HUMAN	fibrillin 3	2427	EGF-like 39; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGCTGCACAGGAAACTGCCCT	0.592000													18	32					0	0	0.007413	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37791921	37791921	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:37791921G>A	ENST00000254079.4	+	6	976	c.507G>A	c.(505-507)ctG>ctA	p.L169L	PPP1R1B_ENST00000394267.2_Silent_p.L133L|PPP1R1B_ENST00000579000.1_Silent_p.L136L|PPP1R1B_ENST00000580825.1_Silent_p.L169L|PPP1R1B_ENST00000394265.1_Silent_p.L133L	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	169					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CACCCCCTCTGGATGAGTCCG	0.592000													27	62					0	0	0.006320	0	0
IFI35	3430	broad.mit.edu	37	17	41166293	41166293	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:41166293G>A	ENST00000415816.2	+	7	1061	c.838G>A	c.(838-840)Gtc>Atc	p.V280I	IFI35_ENST00000438323.2_Missense_Mutation_p.V282I	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	280				EVEALTVVPQGQQGLAVFTSESG -> GRGPDSRTPRTAGP SSLHL (in Ref. 1; no nucleotide entry).	response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GGGCCTAGCAGTCTTCACCTC	0.647000													6	14					0	0	0.001984	0	0
EYA4	2070	broad.mit.edu	37	6	133844294	133844294	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:133844294A>C	ENST00000367895.5	+	18	2181	c.1717A>C	c.(1717-1719)Att>Ctt	p.I573L	RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355286.6_Missense_Mutation_p.I550L|EYA4_ENST00000525849.1_Missense_Mutation_p.I550L|EYA4_ENST00000355167.3_Missense_Mutation_p.I573L|EYA4_ENST00000452339.2_Missense_Mutation_p.I519L|EYA4_ENST00000431403.2_Missense_Mutation_p.I573L|EYA4_ENST00000430974.2_Missense_Mutation_p.I525L|EYA4_ENST00000531901.1_Missense_Mutation_p.I579L	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	573					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CATTGAGAATATTTACAGTGC	0.388000													8	13					0	0	0.004482	0	0
TSTD2	158427	broad.mit.edu	37	9	100388231	100388231	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:100388231A>C	ENST00000341170.4	-	3	596	c.214T>G	c.(214-216)Ttt>Gtt	p.F72V	TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	72										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						TTACATTCAAAACTCCTTTTT	0.373000													3	18					0	0	0.000248	0	0
NPLOC4	55666	broad.mit.edu	37	17	79573743	79573743	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:79573743G>A	ENST00000374747.5	-	7	757	c.628C>T	c.(628-630)Ccg>Tcg	p.P210S	NPLOC4_ENST00000539314.1_Missense_Mutation_p.P49S|NPLOC4_ENST00000331134.6_Missense_Mutation_p.P210S|NPLOC4_ENST00000574344.1_5'UTR			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	210					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ATGGCGCTCGGCTGGCACTTA	0.532000													14	24					0	0	0.003163	0	0
ACPL2	92370	broad.mit.edu	37	3	141011772	141011772	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:141011772G>A	ENST00000508812.1	+	5	3048	c.1141G>A	c.(1141-1143)Ggc>Agc	p.G381S	ACPL2_ENST00000393010.2_Missense_Mutation_p.G390S|ACPL2_ENST00000393007.1_Missense_Mutation_p.G374S|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000504264.1_Missense_Mutation_p.G373S|ACPL2_ENST00000502783.1_Missense_Mutation_p.G352S|ACPL2_ENST00000286353.4_Missense_Mutation_p.G390S			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	390						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CAGTGCCTTGGGCCTTTCAGA	0.532000													22	105					0	0	0.003954	0	0
SH2D4A	63898	broad.mit.edu	37	8	19218823	19218823	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:19218823C>T	ENST00000265807.3	+	6	1115	c.704C>T	c.(703-705)tCt>tTt	p.S235F	SH2D4A_ENST00000518040.1_Missense_Mutation_p.S190F|SH2D4A_ENST00000519207.1_Missense_Mutation_p.S235F	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	235						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TGGCAGGCATCTCGTGAGTAC	0.413000													3	8					0	0	0.000248	0	0
OR2A12	346525	broad.mit.edu	37	7	143792752	143792752	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:143792752C>T	ENST00000408949.2	+	1	612	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGTCCGTATTCAAATTGGCCT	0.493000													15	49					0	0	0.002450	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409088	105409088	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:105409088G>A	ENST00000333244.5	-	7	12819	c.12700C>T	c.(12700-12702)Ccc>Tcc	p.P4234S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4234						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCACCTGGGGGCCCTTGAGG	0.652000													19	77					0	0	0.002299	0	0
USP26	83844	broad.mit.edu	37	X	132161510	132161510	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:132161510G>A	ENST00000511190.1	-	6	1208	c.739C>T	c.(739-741)Cct>Tct	p.P247S	USP26_ENST00000370832.1_Missense_Mutation_p.P247S|USP26_ENST00000406273.1_Missense_Mutation_p.P247S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	247					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTAGGTAAGGATTTCCAGTG	0.373000													5	20					0	0	0.000602	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101435314	101435314	+	RNA	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:101435314G>A	ENST00000554693.2	+	0	212				SNORD114-12_ENST00000365400.1_RNA																							ACCGGCGTATGAGTCTTGGAT	0.353000													4	10					0	0	0.000248	0	0
ATP8B3	148229	broad.mit.edu	37	19	1789468	1789468	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:1789468G>A	ENST00000539485.1	-	23	3000	c.2767C>T	c.(2767-2769)Cgc>Tgc	p.R923C	ATP8B3_ENST00000310127.6_Missense_Mutation_p.R913C|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R876C			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	913					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GGCGTCACGCGGCAGCAGATG	0.662000													5	12					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179408933	179408933	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:179408933C>T	ENST00000589042.1	-	345	96247	c.96023G>A	c.(96022-96024)aGa>aAa	p.R32008K	TTN_ENST00000591111.1_Missense_Mutation_p.R30367K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22943K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29440K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23068K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23135K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30367	Ig-like 142.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R29440T(1)|p.R22943T(1)|p.R29438T(1)|p.R23068T(1)|p.R23135T(1)		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)			AATACCTATTCTTTCCACGGG	0.373000													7	18					0	0	0.001984	0	0
TTLL6	284076	broad.mit.edu	37	17	46863592	46863592	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:46863592C>T	ENST00000393382.3	-	12	1836	c.1695G>A	c.(1693-1695)aaG>aaA	p.K565K	TTLL6_ENST00000433608.2_Silent_p.K258K	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	517						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCCTCATGCCCTTCTTTCTCA	0.527000													54	267					0	0	0.003610	0	0
KIF24	347240	broad.mit.edu	37	9	34259683	34259683	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:34259683G>A	ENST00000379166.2	-	10	1655	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	KIF24_ENST00000379174.3_Silent_p.I378I|KIF24_ENST00000402558.2_Silent_p.I512I|KIF24_ENST00000345050.2_Silent_p.I378I	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	512					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TGGCATTGCCGATGAAAGAGT	0.488000													57	60					0	0	0.003610	0	0
SFSWAP	6433	broad.mit.edu	37	12	132209970	132209970	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:132209970C>T	ENST00000261674.4	+	5	768	c.627C>T	c.(625-627)caC>caT	p.H209H	SFSWAP_ENST00000541286.1_Silent_p.H209H	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	209					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTAAAATGCACGCCATCATCG	0.517000													9	42					0	0	0.000978	0	0
CUX2	23316	broad.mit.edu	37	12	111785456	111785456	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:111785456C>T	ENST00000261726.6	+	22	3942	c.3788C>T	c.(3787-3789)tCt>tTt	p.S1263F		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1263						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGCCCTGACTCTGAGACTGAG	0.637000													20	24					0	0	0.001523	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147545	6147545	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:6147545C>T	ENST00000588304.1	+	3	452	c.6C>T	c.(4-6)acC>acT	p.T2T	ACSBG2_ENST00000591403.1_Silent_p.T52T|ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000586696.1_Silent_p.T52T|ACSBG2_ENST00000252669.5_Silent_p.T52T			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	52					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCGATGACCATCCCTGAAT	0.488000													23	106					0	0	0.003330	0	0
TAMM41	132001	broad.mit.edu	37	3	11887979	11887979	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:11887979C>T	ENST00000444133.2	-	1	274	c.132G>A	c.(130-132)caG>caA	p.Q44Q	TAMM41_ENST00000455809.1_Silent_p.Q44Q|TAMM41_ENST00000273037.5_Silent_p.Q44Q			Q96BW9	MMP37_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	44					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane											GGCTCACCTTCTGGTCTGAAC	0.622000													9	33					0	0	0.004482	0	0
DNAH9	1770	broad.mit.edu	37	17	11797735	11797735	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:11797735C>T	ENST00000262442.3	+	59	11396	c.11328C>T	c.(11326-11328)ttC>ttT	p.F3776F	DNAH9_ENST00000396001.2_Silent_p.F88F|DNAH9_ENST00000454412.2_Silent_p.F3776F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3776					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)		AGTTGGATTTCCTGCTTCGAT	0.512000													13	52					0	0	0.002450	0	0
TRPC3	7222	broad.mit.edu	37	4	122835986	122835986	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:122835986G>A	ENST00000264811.5	-	3	1489	c.1071C>T	c.(1069-1071)gcC>gcT	p.A357A	TRPC3_ENST00000379645.3_Silent_p.A430A|TRPC3_ENST00000513531.1_Intron	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	345					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAAGGCCCAGGGCCACGACCA	0.537000													8	10					0	0	0.003080	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240908	39240908	+	Silent	SNP	T	T	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:39240908T>C	ENST00000391417.4	+	1	450	c.450T>C	c.(448-450)tgT>tgC	p.C150C		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.C150C(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCTTGTGCTGTGCCTCCTCTT	0.607000													3	10					0	0	0.004672	0	0
ITGA8	8516	broad.mit.edu	37	10	15639266	15639266	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:15639266C>T	ENST00000378076.3	-	21	2504	c.2151G>A	c.(2149-2151)atG>atA	p.M717I	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	717					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTACATTTTCCATCTTGTACT	0.453000													7	24					0	0	0.004482	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993591	140993591	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:140993591C>T	ENST00000285879.4	+	4	687	c.401C>T	c.(400-402)tCc>tTc	p.S134F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	134							protein binding	p.S134F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCGAGTTCCTTCTTCTCC	0.502000										HNSCC(15;0.026)			32	51					0	0	0.002096	0	0
SPIN2A	54466	broad.mit.edu	37	X	57162290	57162290	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:57162290G>A	ENST00000374908.1	-	1	1140	c.741C>T	c.(739-741)ttC>ttT	p.F247F	SPIN2A_ENST00000374906.3_Silent_p.F247F			Q99865	SPI2A_HUMAN	spindlin family, member 2A	247					cell cycle|gamete generation					breast(1)|kidney(1)|ovary(1)	3						CATAGATATGGAAATCATCAT	0.363000													12	38					0	0	0.004990	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140536852	140536852	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:140536852G>A	ENST00000539533.1	+	1	1276	c.1276G>A	c.(1276-1278)Gac>Aac	p.D426N																								TACTGTCACAGACTTGGGGAC	0.507000													5	38					0	0	0.001168	0	0
RECQL5	9400	broad.mit.edu	37	17	73658685	73658685	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:73658685G>A	ENST00000420326.2	-	4	804	c.645C>T	c.(643-645)atC>atT	p.I215I	RECQL5_ENST00000340830.5_Silent_p.I215I|RECQL5_ENST00000317905.5_Silent_p.I215I|RECQL5_ENST00000423245.2_Silent_p.I188I|RECQL5_ENST00000584999.1_Silent_p.I215I	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	215					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GAGTCTTGAAGATGGCAACTG	0.547000								Other identified genes with known or suspected DNA repair function					84	165					0	0	0.003610	0	0
YY1AP1	55249	broad.mit.edu	37	1	155631048	155631048	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:155631048A>G	ENST00000405763.3	-	9	1470	c.1460T>C	c.(1459-1461)gTt>gCt	p.V487A	YY1AP1_ENST00000295566.4_Intron|YY1AP1_ENST00000359205.5_Intron|YY1AP1_ENST00000404643.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Intron|YY1AP1_ENST00000368330.2_Intron|YY1AP1_ENST00000368340.5_Intron|YY1AP1_ENST00000361831.5_Intron|YY1AP1_ENST00000347088.5_Intron|YY1AP1_ENST00000311573.5_Intron|YY1AP1_ENST00000368339.5_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000355499.4_Intron|YY1AP1_ENST00000535662.1_Intron					YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTCTCTCAGAACTTTCAGTGA	0.443000													18	31					0	0	0.003954	0	0
TDGF1	6997	broad.mit.edu	37	3	46620588	46620588	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:46620588G>A	ENST00000296145.5	+	2	772	c.39G>A	c.(37-39)gtG>gtA	p.V13V	TDGF1_ENST00000542931.1_5'UTR|LRRC2_ENST00000296144.3_Intron	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	13					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TTCCTAGTGTGATTTGGATCA	0.408000													35	53					0	0	0.002222	0	0
LRP5	4041	broad.mit.edu	37	11	68174156	68174156	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:68174156C>T	ENST00000294304.7	+	9	2072	c.1966C>T	c.(1966-1968)Cac>Tac	p.H656Y		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	656	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCCGCCATCCACAGGATCTC	0.597000													8	15					0	0	0.003080	0	0
FAM117A	81558	broad.mit.edu	37	17	47793567	47793567	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:47793567G>A	ENST00000240364.2	-	7	1100	c.1021C>T	c.(1021-1023)Cca>Tca	p.P341S	FAM117A_ENST00000513602.1_Missense_Mutation_p.P69S|RP11-613C6.2_ENST00000512720.1_RNA	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	341										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CAGCCTTCTGGGGGCTCCCGT	0.557000													14	39					0	0	0.006122	0	0
SSH2	85464	broad.mit.edu	37	17	27994162	27994162	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:27994162T>C	ENST00000269033.3	-	9	959	c.808A>G	c.(808-810)Att>Gtt	p.I270V	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.I297V	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	270					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGGATGTAATATTCTCCAAA	0.418000													11	18					0	0	0.001368	0	0
FZR1	51343	broad.mit.edu	37	19	3527704	3527704	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:3527704C>T	ENST00000441788.2	+	7	782	c.546C>T	c.(544-546)ccC>ccT	p.P182P	FZR1_ENST00000395095.3_Silent_p.P182P|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	182					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACGCGCCCGAGCTGCAGG	0.632000													8	21					0	0	0.003080	0	0
RAB34	83871	broad.mit.edu	37	17	27042098	27042098	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:27042098C>T	ENST00000395245.3	-	8	1182	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	RAB34_ENST00000453384.3_Missense_Mutation_p.V244M|RAB34_ENST00000450529.1_Missense_Mutation_p.V178M|RAB34_ENST00000395242.2_Missense_Mutation_p.V187M|RAB34_ENST00000436730.3_Missense_Mutation_p.V186M|RAB34_ENST00000415040.2_Missense_Mutation_p.V164M|RAB34_ENST00000395243.3_Missense_Mutation_p.V178M|RAB34_ENST00000301043.6_Missense_Mutation_p.V186M|RAB34_ENST00000447716.1_Missense_Mutation_p.V243M	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	186					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TCCTGGGCCACCTGGAGGGCG	0.602000													10	40					0	0	0.000978	0	0
KRT72	140807	broad.mit.edu	37	12	52981604	52981604	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:52981604G>A	ENST00000293745.2	-	7	1206	c.1121C>T	c.(1120-1122)gCt>gTt	p.A374V	KRT72_ENST00000398066.3_Missense_Mutation_p.A186V|KRT72_ENST00000354310.4_Missense_Mutation_p.A332V|KRT72_ENST00000537672.2_Missense_Mutation_p.A374V	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	374	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCGCTGTTCAGCGTCGGCGAT	0.627000													5	15					0	0	0.001168	0	0
OR52J3	119679	broad.mit.edu	37	11	5068359	5068359	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:5068359C>T	ENST00000380370.1	+	1	604	c.604C>T	c.(604-606)Ctt>Ttt	p.L202F		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L202I(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATCTATGGGCTTTTTGTAGT	0.443000													11	17					0	0	0.008291	0	0
MARCH2	51257	broad.mit.edu	37	19	8491579	8491579	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:8491579C>T	ENST00000602117.1	+	3	718	c.263C>T	c.(262-264)gCc>gTc	p.A88V	MARCH2_ENST00000393944.1_Missense_Mutation_p.A88V|MARCH2_ENST00000381035.4_Missense_Mutation_p.A88V|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000215555.2_Missense_Mutation_p.A88V|MARCH2_ENST00000601283.1_Intron			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	88					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						ACGCTGGGTGCCGTGCATAAG	0.597000													4	24					0	0	0.000248	0	0
NIPBL	25836	broad.mit.edu	37	5	36995774	36995774	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:36995774G>A	ENST00000282516.8	+	11	3671	c.3172G>A	c.(3172-3174)Gaa>Aaa	p.E1058K	NIPBL_ENST00000448238.2_Missense_Mutation_p.E1058K|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1058					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACTCCTGGCAGAAATTGAGTC	0.338000													7	15					0	0	0.006214	0	0
CACNA1G	8913	broad.mit.edu	37	17	48646648	48646648	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:48646648C>T	ENST00000352832.5	+	3	849	c.477C>T	c.(475-477)atC>atT	p.I159I	CACNA1G_ENST00000502264.1_Silent_p.I159I|CACNA1G_ENST00000416767.4_Silent_p.I159I|CACNA1G_ENST00000510366.1_Silent_p.I159I|CACNA1G_ENST00000358244.5_Silent_p.I159I|CACNA1G_ENST00000513689.2_Silent_p.I159I|CACNA1G_ENST00000505165.1_Silent_p.I159I|CACNA1G_ENST00000503485.1_Silent_p.I159I|CACNA1G_ENST00000429973.2_Silent_p.I159I|CACNA1G_ENST00000354983.4_Silent_p.I159I|CACNA1G_ENST00000359106.5_Silent_p.I159I|CACNA1G_ENST00000507510.2_Silent_p.I159I|CACNA1G_ENST00000515165.1_Silent_p.I159I|CACNA1G_ENST00000512389.1_Silent_p.I159I|CACNA1G_ENST00000507896.1_Silent_p.I159I|CACNA1G_ENST00000360761.4_Silent_p.I159I|CACNA1G_ENST00000514717.1_Silent_p.I159I|CACNA1G_ENST00000515411.1_Silent_p.I159I|CACNA1G_ENST00000507609.1_Silent_p.I159I|CACNA1G_ENST00000513964.1_Silent_p.I159I|CACNA1G_ENST00000507336.1_Silent_p.I159I|CACNA1G_ENST00000442258.2_Silent_p.I159I|CACNA1G_ENST00000510115.1_Silent_p.I159I|CACNA1G_ENST00000515765.1_Silent_p.I159I|CACNA1G_ENST00000514079.1_Silent_p.I159I|CACNA1G_ENST00000514181.1_Silent_p.I159I	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	159					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACTTTTTCATCGTCATCGCAG	0.582000													7	49					0	0	0.003080	0	0
BCAM	4059	broad.mit.edu	37	19	45316532	45316532	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:45316532G>A	ENST00000391955.1	+	5	574	c.530G>A	c.(529-531)gGg>gAg	p.G177E	BCAM_ENST00000270233.6_Missense_Mutation_p.G177E			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	177	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGCCGGAACGGGAACCCGGCC	0.662000													46	135					0	0	0.003610	0	0
DNAAF3	352909	broad.mit.edu	37	19	55670558	55670558	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:55670558C>T	ENST00000527223.2	-	12	1700	c.1699G>A	c.(1699-1701)Ggg>Agg	p.G567R	DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.4_ENST00000587871.1_Intron|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000524407.2_Missense_Mutation_p.G500R|DNAAF3_ENST00000455045.1_Missense_Mutation_p.G446R|DNAAF3_ENST00000391720.4_Missense_Mutation_p.G547R	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	500																	TGTGGGGTCCCACCCTGCAGA	0.657000													7	19					0	0	0.003080	0	0
IGHG3	3502	broad.mit.edu	37	14	106237643	106237643	+	RNA	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:106237643G>A	ENST00000390551.2	-	0	99																											CACCGGTTCTGGGAAGTAGTC	0.667000													6	16					0	0	0.001168	0	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3583028	3583028	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:3583028C>T	ENST00000550383.1	-	11	1303	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E	P2RX5_ENST00000547178.1_Missense_Mutation_p.G371E|P2RX5_ENST00000345901.3_Missense_Mutation_p.G348E|P2RX5_ENST00000435558.1_Missense_Mutation_p.G372E|P2RX5_ENST00000552276.1_Missense_Mutation_p.G371E|P2RX5_ENST00000552050.1_Missense_Mutation_p.G312E|P2RX5_ENST00000551178.1_Missense_Mutation_p.G347E|P2RX5_ENST00000225328.5_Missense_Mutation_p.G372E																							CTCAGATAGCCCCAGCCCCGA	0.657000													5	26					0	0	0.001168	0	0
NDST3	9348	broad.mit.edu	37	4	119174728	119174728	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:119174728G>A	ENST00000296499.5	+	13	2877	c.2474G>A	c.(2473-2475)gGa>gAa	p.G825E		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	825	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AAGAGCAAAGGAAGAAAATAC	0.318000													26	49					0	0	0.001786	0	0
SSUH2	51066	broad.mit.edu	37	3	8672581	8672581	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:8672581G>A	ENST00000317371.4	-	13	1594	c.369C>T	c.(367-369)tcC>tcT	p.S123S	SSUH2_ENST00000415132.1_Silent_p.S123S|SSUH2_ENST00000544814.1_Silent_p.S145S|SSUH2_ENST00000341795.3_Silent_p.S123S					ssu-2 homolog (C. elegans)																		AGAGCCTGGGGGAGGCGCCTC	0.522000													16	31					0	0	0.003163	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427784	27427784	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:27427784G>A	ENST00000310574.3	-	8	1223	c.750C>T	c.(748-750)ccC>ccT	p.P250P	SLC5A6_ENST00000408041.1_Silent_p.P250P	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	250					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GCCGCACAAAGGGGTCTGGAT	0.572000													6	33					0	0	0.003080	0	0
BCAT1	586	broad.mit.edu	37	12	25031483	25031483	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:25031483G>A	ENST00000261192.7	-	5	1017	c.491C>T	c.(490-492)cCt>cTt	p.P164L	BCAT1_ENST00000539282.1_Missense_Mutation_p.P176L|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Missense_Mutation_p.P127L|BCAT1_ENST00000538118.1_Missense_Mutation_p.P163L|BCAT1_ENST00000342945.5_Missense_Mutation_p.P103L	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	164					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	AATGAATGTAGGACGAATATA	0.363000													3	16					0	0	0.000248	0	0
NISCH	11188	broad.mit.edu	37	3	52521747	52521747	+	Missense_Mutation	SNP	C	C	T	rs62256878		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:52521747C>T	ENST00000345716.4	+	16	2373	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	NISCH_ENST00000479054.1_Missense_Mutation_p.R747W	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	747	Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCAGGAGTCTCGGGGCAGCAG	0.612000													12	35					0	0	0.001855	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307492	140307492	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:140307492G>A	ENST00000253807.2	+	1	1015	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E339K|PCDHA4_ENST00000530339.1_Intron	NM_018898.3	NP_061721.2												p.E339K(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATGCCCCCGAACTGGACTT	0.522000													16	82					0	0	0.004990	0	0
ATAD2	29028	broad.mit.edu	37	8	124358477	124358477	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:124358477C>T	ENST00000287394.5	-	18	2488	c.2381G>A	c.(2380-2382)aGa>aAa	p.R794K	ATAD2_ENST00000521903.1_Missense_Mutation_p.R112K	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	794					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TATCAATATTCTTGGTCGAAA	0.343000													7	26					0	0	0.001984	0	0
OR4A5	81318	broad.mit.edu	37	11	51412281	51412281	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:51412281C>T	ENST00000319760.6	-	1	167	c.115G>A	c.(115-117)Ggg>Agg	p.G39R		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGCAGGTTCCCCACCACTGTC	0.433000													5	4					0	0	0.000602	0	0
SSUH2	51066	broad.mit.edu	37	3	8672582	8672582	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:8672582G>A	ENST00000317371.4	-	13	1593	c.368C>T	c.(367-369)tCc>tTc	p.S123F	SSUH2_ENST00000415132.1_Missense_Mutation_p.S123F|SSUH2_ENST00000544814.1_Missense_Mutation_p.S145F|SSUH2_ENST00000341795.3_Missense_Mutation_p.S123F					ssu-2 homolog (C. elegans)																		GAGCCTGGGGGAGGCGCCTCT	0.527000													17	31					0	0	0.004007	0	0
UROC1	131669	broad.mit.edu	37	3	126211324	126211324	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:126211324G>T	ENST00000290868.2	-	16	1598	c.1545C>A	c.(1543-1545)gaC>gaA	p.D515E	UROC1_ENST00000383579.3_Missense_Mutation_p.D575E	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	515					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GGCCCTTCTGGTCTGAGTACA	0.602000													10	11					1.08611e-07	1.86527e-07	0.000978	1	0
C1orf65	164127	broad.mit.edu	37	1	223567284	223567284	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:223567284C>T	ENST00000366875.3	+	1	570	c.467C>T	c.(466-468)cCc>cTc	p.P156L		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	156										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCTGGCACTCCCCTGAGTGGC	0.677000													13	20					0	0	0.001368	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687812	27687812	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:27687812G>A	ENST00000438700.3	-	4	1832	c.1715C>T	c.(1714-1716)tCt>tTt	p.S572F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	572					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ATCTGGGACAGAACCAAATGG	0.408000													3	12					0	0	0.004672	0	0
ACTL8	81569	broad.mit.edu	37	1	18149669	18149669	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:18149669G>A	ENST00000375406.1	+	2	382	c.166G>A	c.(166-168)Gac>Aac	p.D56N		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	56						cytoplasm|cytoskeleton		p.D56Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCTGGGCATCGACATTTGCCA	0.572000													22	65					0	0	0.004656	0	0
CHURC1	91612	broad.mit.edu	37	14	65390804	65390804	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:65390804C>T	ENST00000607599.1	+	2	270	c.216C>T	c.(214-216)tcC>tcT	p.S72S	CHURC1_ENST00000359118.2_Silent_p.S45S|CHURC1_ENST00000552002.2_Silent_p.S45S|CHURC1-FNTB_ENST00000447296.2_Silent_p.S45S|CHURC1-FNTB_ENST00000542227.1_5'UTR|CHURC1_ENST00000549115.1_Silent_p.S72S|CHURC1_ENST00000548752.2_Silent_p.S72S	NM_001204063.1|NM_145165.3	NP_001190992.1|NP_660148.3			churchill domain containing 1											breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		CAAACAAATCCTTGAAAGAAG	0.393000													4	15					0	0	0.000602	0	0
DSCAM	1826	broad.mit.edu	37	21	41561001	41561001	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr21:41561001C>T	ENST00000400454.1	-	12	2998	c.2521G>A	c.(2521-2523)Gag>Aag	p.E841K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	841	Ig-like C2-type 9.				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)				TCTCCCACCTCCTTGGTGGAC	0.473000													39	59					0	0	0.003610	0	0
GPR171	29909	broad.mit.edu	37	3	150916784	150916784	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:150916784A>C	ENST00000309180.5	-	3	620	c.390T>G	c.(388-390)ttT>ttG	p.F130L	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	130						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCATTTTGGCAAATCCGGGTT	0.393000													10	17					0	0	0.008291	0	0
MYH15	22989	broad.mit.edu	37	3	108219036	108219036	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:108219036C>T	ENST00000273353.3	-	5	541	c.485G>A	c.(484-486)gGg>gAg	p.G162E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	162	Myosin head-like.					myofibril|myosin filament	actin binding|ATP 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						TCGCCTCTTCCCTTTGTAGGC	0.473000													7	12					0	0	0.006214	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480878	140480878	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:140480878G>A	ENST00000231130.2	+	1	645	c.645G>A	c.(643-645)ctG>ctA	p.L215L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		215	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACCGCGCTGGACGGCGGCT	0.567000													10	24					0	0	0.001368	0	0
SV2A	9900	broad.mit.edu	37	1	149877521	149877521	+	Silent	SNP	G	G	A	rs138258149		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:149877521G>A	ENST00000369146.3	-	12	2446	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	SV2A_ENST00000369145.1_Silent_p.I652I	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	652					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.I652I(3)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGAGCAGAGCGATCATGGCCG	0.542000													35	85					0	0	0.003271	0	0
IL27RA	9466	broad.mit.edu	37	19	14142700	14142700	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:14142700G>A	ENST00000263379.2	+	1	141	c.16G>A	c.(16-18)Ggc>Agc	p.G6S		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	6					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GGGAGGCAGGGGCGCCCCTTT	0.721000													5	9					0	0	0.000602	0	0
AFF3	3899	broad.mit.edu	37	2	100209873	100209873	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:100209873C>T	ENST00000317233.4	-	14	2485	c.2250G>A	c.(2248-2250)cgG>cgA	p.R750R	AFF3_ENST00000409236.1_Silent_p.R750R|AFF3_ENST00000356421.2_Silent_p.R775R|AFF3_ENST00000409579.1_Silent_p.R775R	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	750					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GAAGTTCGTTCCGGCCAAAGG	0.582000													13	41					0	0	0.001855	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905896	164905896	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:164905896G>A	ENST00000475390.1	-	2	3166	c.2723C>T	c.(2722-2724)cCc>cTc	p.P908L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P908L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	908						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTTTAATTTGGGCACTGTTCC	0.547000										HNSCC(40;0.11)			23	24					0	0	0.002299	0	0
RAG1	5896	broad.mit.edu	37	11	36595117	36595117	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:36595117C>T	ENST00000299440.5	+	2	375	c.263C>T	c.(262-264)tCa>tTa	p.S88L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	88	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CCTAAGTTTTCAAAGAAATTT	0.488000									Familial Hemophagocytic Lymphohistiocytosis				21	24					0	0	0.001523	0	0
ANO2	57101	broad.mit.edu	37	12	5708726	5708726	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:5708726C>T	ENST00000356134.5	-	22	2231	c.2160G>A	c.(2158-2160)tcG>tcA	p.S720S	ANO2_ENST00000327087.8_Silent_p.S719S|ANO2_ENST00000546188.1_Silent_p.S720S	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	724						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGGATGTTTCGAATGGGCAG	0.453000													32	40					0	0	0.002445	0	0
SNTG2	54221	broad.mit.edu	37	2	1133330	1133330	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:1133330C>T	ENST00000308624.5	+	5	477	c.348C>T	c.(346-348)ttC>ttT	p.F116F	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	116	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.F116F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GGATGTTGTTCGTAGGAGATG	0.378000													13	13					0	0	0.003163	0	0
FZR1	51343	broad.mit.edu	37	19	3527703	3527703	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:3527703C>T	ENST00000441788.2	+	7	781	c.545C>T	c.(544-546)cCc>cTc	p.P182L	FZR1_ENST00000395095.3_Missense_Mutation_p.P182L|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	182					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGACGCGCCCGAGCTGCAG	0.637000													9	21					0	0	0.004482	0	0
GCKR	2646	broad.mit.edu	37	2	27729363	27729363	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:27729363C>T	ENST00000264717.2	+	11	948	c.885C>T	c.(883-885)atC>atT	p.I295I	GCKR_ENST00000424318.2_Silent_p.I105I	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	295					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TCCTGGAAATCTTGCGGACAT	0.552000													20	20					0	0	0.002780	0	0
OR2A12	346525	broad.mit.edu	37	7	143793023	143793023	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:143793023C>T	ENST00000408949.2	+	1	883	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GATCCTTTCCCTGTTTTACAG	0.517000													27	81					0	0	0.002096	0	0
PPP1R36	145376	broad.mit.edu	37	14	65041199	65041199	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:65041199A>G	ENST00000298705.1	+	8	656	c.560A>G	c.(559-561)gAa>gGa	p.E187G	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	187																	AAAGAAATGGAATTGGTTTTA	0.423000													10	34					0	0	0.000978	0	0
WDR96	80217	broad.mit.edu	37	10	105939630	105939630	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:105939630C>T	ENST00000357060.3	-	18	2465	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	WDR96_ENST00000278064.2_Missense_Mutation_p.E715K|WDR96_ENST00000428666.1_Missense_Mutation_p.E785K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	784										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAAGGAATTTCCTTCTTAACA	0.358000													10	55					0	0	0.000978	0	0
ZNF608	57507	broad.mit.edu	37	5	123977034	123977034	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:123977034G>A	ENST00000306315.5	-	7	4796	c.4361C>T	c.(4360-4362)cCc>cTc	p.P1454L	ZNF608_ENST00000513985.1_5'UTR|ZNF608_ENST00000504926.1_Missense_Mutation_p.P1027L	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1454						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGGCCGAAGGGGGAGTGGCG	0.572000													13	54					0	0	0.001368	0	0
DIS3L	115752	broad.mit.edu	37	15	66624337	66624337	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:66624337G>A	ENST00000319194.5	+	15	2672	c.2411G>A	c.(2410-2412)gGt>gAt	p.G804D	DIS3L_ENST00000319212.4_Missense_Mutation_p.G887D	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	887					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGAACAAATGGTGTGCTTCTA	0.363000													16	78					0	0	0.001523	0	0
OR13C8	138802	broad.mit.edu	37	9	107332290	107332290	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:107332290C>T	ENST00000335040.1	+	1	842	c.842C>T	c.(841-843)tCc>tTc	p.S281F		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GCCCTCATCTCCCTTTTCTAT	0.413000													17	17					0	0	0.006122	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44266166	44266166	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr18:44266166C>T	ENST00000315087.7	-	5	1200	c.540G>A	c.(538-540)agG>agA	p.R180R	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.R149R|ST8SIA5_ENST00000538168.1_Silent_p.R216R	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	180					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGTTGATCTCCCTCCCGCAGC	0.592000													7	33					0	0	0.000978	0	0
ZNF32	7580	broad.mit.edu	37	10	44139841	44139841	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:44139841G>A	ENST00000395797.1	-	3	667	c.479C>T	c.(478-480)cCc>cTc	p.P160L	ZNF32_ENST00000374433.2_Missense_Mutation_p.P160L|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		ACACTCGTAGGGTTTCTGTCC	0.498000													9	32					0	0	0.006214	0	0
EXTL3	2137	broad.mit.edu	37	8	28575288	28575288	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:28575288G>A	ENST00000220562.4	+	3	2614	c.1712G>A	c.(1711-1713)gGg>gAg	p.G571E	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.G187E	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	571						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GCTGACAACGGGGACCTGGAC	0.627000													16	26					0	0	0.004990	0	0
TELO2	9894	broad.mit.edu	37	16	1544321	1544321	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:1544321G>A	ENST00000262319.6	+	2	318	c.39G>A	c.(37-39)cgG>cgA	p.R13R		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	13						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TCGCCGTCCGGGAAGCCATTC	0.622000											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	34					0	0	0.003163	0	0
OR6C1	390321	broad.mit.edu	37	12	55715172	55715172	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:55715172A>T	ENST00000379668.2	+	1	827	c.789A>T	c.(787-789)aaA>aaT	p.K263N		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K263K(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CCTCAGCAAAAGATAGAGTGT	0.443000													14	13					0	0	0.001855	0	0
TENM4	26011	broad.mit.edu	37	11	78440605	78440605	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:78440605G>A	ENST00000278550.7	-	22	3684	c.3222C>T	c.(3220-3222)gtC>gtT	p.V1074V		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGATCCTCAGGACAGATTTGT	0.577000													17	24					0	0	0.006122	0	0
ZZZ3	26009	broad.mit.edu	37	1	78097898	78097898	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:78097898G>A	ENST00000370801.3	-	5	1617	c.1142C>T	c.(1141-1143)tCa>tTa	p.S381L	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCTTCGTGGTGAGGTTCTCAG	0.438000													10	15					0	0	0.001368	0	0
LRRC6	23639	broad.mit.edu	37	8	133584655	133584655	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:133584655C>T	ENST00000519595.1	-	12	1398	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	LRRC6_ENST00000518642.1_3'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.E434K			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	434						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGTTTTTTCTCTTGAACTATG	0.423000													11	60					0	0	0.008291	0	0
SIGMAR1	10280	broad.mit.edu	37	9	34637410	34637410	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:34637410G>A	ENST00000277010.4	-	2	232	c.159C>T	c.(157-159)gaC>gaT	p.D53D	SIGMAR1_ENST00000378892.1_5'UTR|SIGMAR1_ENST00000477726.1_Silent_p.D53D|SIGMAR1_ENST00000461426.1_5'UTR	NM_005866.2	NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	53					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	CCAGCTCGTGGTCCAGCCCTG	0.706000													11	9					0	0	0.000978	0	0
CCDC108	255101	broad.mit.edu	37	2	219871204	219871204	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:219871204G>A	ENST00000341552.5	-	30	4785	c.4702C>T	c.(4702-4704)Cct>Tct	p.P1568S	CCDC108_ENST00000453220.1_Missense_Mutation_p.P1568S|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1568S|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1568						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCTCGCAGGTTCACAGGCT	0.572000													40	79					0	0	0.003610	0	0
DSC3	1825	broad.mit.edu	37	18	28581592	28581592	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr18:28581592C>T	ENST00000434452.1	-	14	2381	c.2227G>A	c.(2227-2229)Gat>Aat	p.D743N	DSC3_ENST00000360428.4_Missense_Mutation_p.D743N	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	743					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ACCACTCTATCGTCTCCAGGT	0.294000													9	21					0	0	0.004482	0	0
ZAN	7455	broad.mit.edu	37	7	100386926	100386926	+	RNA	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:100386926C>T	ENST00000542585.1	+	0	7459				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCTGGTCACCGACTTTGAGC	0.542000													17	47					0	0	0.006122	0	0
R3HDM4	91300	broad.mit.edu	37	19	899628	899628	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:899628G>A	ENST00000361574.5	-	6	693	c.620C>T	c.(619-621)gCc>gTc	p.A207V	R3HDM4_ENST00000587975.1_Missense_Mutation_p.A186V	NM_138774.3	NP_620129.2	Q96D70	CS022_HUMAN	R3H domain containing 4	207	R3H.					nucleus	nucleic acid binding										TGTGTACACGGCCTGGGGGGA	0.692000													7	8					0	0	0.004482	0	0
TRPC7	57113	broad.mit.edu	37	5	135583207	135583207	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:135583207T>C	ENST00000513104.1	-	7	2078	c.1796A>G	c.(1795-1797)aAc>aGc	p.N599S	TRPC7_ENST00000355180.3_Missense_Mutation_p.N538S|TRPC7_ENST00000426057.2_Missense_Mutation_p.N483S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	599					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAGTACAGGTTGAACATCCC	0.483000													7	31					0	0	0.001984	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11862319	11862319	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:11862319G>A	ENST00000396516.2	-	11	1409	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	ZC3H7A_ENST00000355758.4_Silent_p.F404F			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	404						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AAATTCCCAGGAAATTCTCTG	0.368000													15	40					0	0	0.003163	0	0
SAFB	6294	broad.mit.edu	37	19	5667120	5667120	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:5667120G>A	ENST00000292123.5	+	18	2505	c.2398G>A	c.(2398-2400)Ggc>Agc	p.G800S	SAFB_ENST00000592224.1_Missense_Mutation_p.G799S|SAFB_ENST00000454510.1_Missense_Mutation_p.G731S|SAFB_ENST00000588852.1_Missense_Mutation_p.G800S|SAFB_ENST00000433404.1_Missense_Mutation_p.G630S|SAFB_ENST00000538656.1_Missense_Mutation_p.G642S	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	800	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TGGCTGGGGGGGCTATGGCTC	0.652000													9	27					0	0	0.004482	0	0
COASY	80347	broad.mit.edu	37	17	40714460	40714460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:40714460C>T	ENST00000590958.1	+	2	156	c.31C>T	c.(31-33)Cga>Tga	p.R11*	COASY_ENST00000421097.2_Intron|COASY_ENST00000420359.1_5'UTR|COASY_ENST00000393818.2_5'UTR|COASY_ENST00000449624.1_Intron			Q13057	COASY_HUMAN	CoA synthase	0					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AGCACAGCCCCGAGGCGCCGT	0.642000													15	45					0	0	0.006122	0	0
EDEM2	55741	broad.mit.edu	37	20	33711741	33711741	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr20:33711741G>A	ENST00000540582.1	-	13	1664	c.943C>T	c.(943-945)Cct>Tct	p.P315S	EDEM2_ENST00000542871.1_Missense_Mutation_p.P80S|EDEM2_ENST00000541621.1_Missense_Mutation_p.P135S|EDEM2_ENST00000374491.2_Missense_Mutation_p.P319S|EDEM2_ENST00000374492.3_Missense_Mutation_p.P356S			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	356					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TATCCCTGAGGAATGTTGTAG	0.527000													18	34					0	0	0.002780	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716939	222716939	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:222716939C>T	ENST00000343410.6	-	2	972	c.914G>A	c.(913-915)cGa>cAa	p.R305Q		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	305					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTCACTAATTCGGATCTTTTC	0.453000													248	497					0	0	0.003610	0	0
PC	5091	broad.mit.edu	37	11	66633742	66633742	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:66633742G>A	ENST00000393960.1	-	11	1382	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	PC_ENST00000393955.2_Silent_p.I367I|PC_ENST00000524491.1_Silent_p.I327I|PC_ENST00000393958.2_Silent_p.I367I|PC_ENST00000355677.3_Silent_p.I367I	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	367	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGTTGATGCGGATGTTCTCCT	0.682000													18	18					0	0	0.002299	0	0
XKR3	150165	broad.mit.edu	37	22	17288712	17288712	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr22:17288712G>A	ENST00000331428.5	-	2	354	c.252C>T	c.(250-252)atC>atT	p.I84I		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	84						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAAACATCAGGATAATTTGAT	0.333000													12	17					0	0	0.001368	0	0
PSPC1	55269	broad.mit.edu	37	13	20279916	20279916	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr13:20279916C>T	ENST00000338910.4	-	8	1431	c.1272G>A	c.(1270-1272)atG>atA	p.M424I		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	424	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TGTTCATATTCATACCCATCA	0.483000													13	79					0	0	0.003163	0	0
NDUFS7	374291	broad.mit.edu	37	19	1391044	1391044	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:1391044C>T	ENST00000313408.7	+	5	426	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	NDUFS7_ENST00000233627.9_Missense_Mutation_p.R135C|NDUFS7_ENST00000546283.1_Missense_Mutation_p.R135C|NDUFS7_ENST00000414651.2_Missense_Mutation_p.R165C|NDUFS7_ENST00000539480.1_Missense_Mutation_p.R135C|NDUFS7_ENST00000540530.1_3'UTR			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	135					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	NADH(DB00157)	CCCAGCGCTTCGCAAGGTAGG	0.692000													5	18					0	0	0.000602	0	0
SH3RF2	153769	broad.mit.edu	37	5	145317664	145317664	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:145317664C>T	ENST00000511217.1	+	1	225	c.173C>T	c.(172-174)tCc>tTc	p.S58F	SH3RF2_ENST00000359120.4_Missense_Mutation_p.S58F			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	58							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)			CCTGTGTTTTCCAACATTGAG	0.622000													5	27					0	0	0.001168	0	0
C14orf166B	145497	broad.mit.edu	37	14	77319733	77319733	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:77319733G>A	ENST00000393774.3	+	9	1112	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K		NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	330										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGAATCCAATGAAAGCCTCAG	0.507000													6	17					0	0	0.001168	0	0
INSL6	11172	broad.mit.edu	37	9	5185341	5185341	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:5185341G>A	ENST00000381641.3	-	1	327	c.262C>T	c.(262-264)Ccg>Tcg	p.P88S		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	88						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CCCCGGGCCGGGGAAGCGGTT	0.522000													27	89					0	0	0.002836	0	0
ACSL6	23305	broad.mit.edu	37	5	131329801	131329801	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:131329801G>A	ENST00000379264.2	-	2	301	c.193C>T	c.(193-195)Ctt>Ttt	p.L65F	ACSL6_ENST00000543479.1_Missense_Mutation_p.L40F|ACSL6_ENST00000431707.1_Intron|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000379240.1_Missense_Mutation_p.L40F|ACSL6_ENST00000296869.4_Missense_Mutation_p.L65F|ACSL6_ENST00000379272.2_Missense_Mutation_p.L40F|ACSL6_ENST00000379244.1_Missense_Mutation_p.L40F|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000379249.3_Missense_Mutation_p.L40F|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000379246.1_Missense_Mutation_p.L51F|ACSL6_ENST00000544770.1_5'UTR	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	40					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGTAGGCAAGGATGGCAGCC	0.587000													9	43					0	0	0.008291	0	0
NPY5R	4889	broad.mit.edu	37	4	164272599	164272599	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:164272599G>A	ENST00000515560.1	+	4	2696	c.1174G>A	c.(1174-1176)Gat>Aat	p.D392N	NPY5R_ENST00000338566.3_Missense_Mutation_p.D392N|NPY5R_ENST00000506953.1_Missense_Mutation_p.D392N			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	392					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTGGTAACTGATTTTAATGA	0.338000													23	36					0	0	0.002780	0	0
DNAH7	56171	broad.mit.edu	37	2	196720582	196720582	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:196720582C>T	ENST00000312428.6	-	45	8648	c.8548G>A	c.(8548-8550)Gac>Aac	p.D2850N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2850	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCAAGTGTGTCTTGAAGCCTG	0.433000													43	81					0	0	0.002222	0	0
MYOCD	93649	broad.mit.edu	37	17	12626254	12626254	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:12626254G>A	ENST00000425538.1	+	5	544	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	MYOCD_ENST00000343344.4_Missense_Mutation_p.R115Q|MYOCD_ENST00000395988.1_Missense_Mutation_p.R19Q	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	115					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATTGCTCTACGACCAGGGCCA	0.468000													22	102					0	0	0.002299	0	0
MYOM2	9172	broad.mit.edu	37	8	2054304	2054304	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:2054304C>T	ENST00000262113.4	+	23	3056	c.2915C>T	c.(2914-2916)cCg>cTg	p.P972L	MYOM2_ENST00000523438.1_Missense_Mutation_p.P397L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	972	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TTAAAGAATCCGGATAAGGAG	0.408000													6	33					0	0	0.001168	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25255331	25255331	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:25255331G>A	ENST00000328086.7	-	6	2559	c.1756C>T	c.(1756-1758)Cgg>Tgg	p.R586W		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	586					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GCAGATGCCCGAGAGTTAATC	0.532000													13	30					0	0	0.001855	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884185	228884185	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:228884185G>A	ENST00000392056.3	-	7	1431	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A462V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	462						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)		TGGCTGTGGGGCAGCATCACT	0.522000													7	45					0	0	0.001984	0	0
NTSR2	23620	broad.mit.edu	37	2	11802339	11802339	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:11802339G>A	ENST00000306928.5	-	2	686	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	218					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AGTGCCAAGGGGAGCACGAAG	0.647000													43	87					0	0	0.002852	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442604	25442604	+	RNA	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:25442604C>T	ENST00000424208.1	+	0	1580				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1																						TGCTTAGCCCCTGGTAATCTG	0.607000													8	32					0	0	0.003080	0	0
IL36A	27179	broad.mit.edu	37	2	113765561	113765561	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:113765561C>T	ENST00000259211.6	+	4	828	c.417C>T	c.(415-417)atC>atT	p.I139I		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	139					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GTCCTCTCATCCTTACCCAAG	0.507000													17	24					0	0	0.008871	0	0
CCDC24	149473	broad.mit.edu	37	1	44461725	44461725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:44461725C>T	ENST00000372318.3	+	9	988	c.817C>T	c.(817-819)Cga>Tga	p.R273*	SLC6A9_ENST00000372307.3_Intron|CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372306.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	273										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCTTCGACCTCGAGGCCAGTC	0.682000													19	29					0	0	0.008871	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134458021	134458021	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:134458021C>T	ENST00000372195.1	-	22	3219	c.2976G>A	c.(2974-2976)tcG>tcA	p.S992S	RAPGEF1_ENST00000372190.3_Silent_p.S993S|RAPGEF1_ENST00000372189.3_Silent_p.S975S			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	975	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTTCCACCTCCGAGAGGGCGG	0.662000													19	59					0	0	0.003330	0	0
DKK2	27123	broad.mit.edu	37	4	107845214	107845214	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:107845214T>C	ENST00000285311.3	-	4	1382	c.677A>G	c.(676-678)gAa>gGa	p.E226G	DKK2_ENST00000513208.1_Missense_Mutation_p.E126G|DKK2_ENST00000510463.1_Missense_Mutation_p.E180G	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	226	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CTGGAAAATTTCCAGCCCATG	0.488000													8	18					0	0	0.006214	0	0
SCN1A	6323	broad.mit.edu	37	2	166901553	166901553	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:166901553C>T	ENST00000423058.2	-	10	1679	c.1662_splice	c.e10+1	p.Q554_splice	SCN1A_ENST00000303395.4_Splice_Site_p.Q554_splice|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Splice_Site_p.Q554_splice|SCN1A_ENST00000375405.3_Splice_Site_p.Q554_splice|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	554						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGTGCCATACCTGGTGTGGGG	0.418000													3	11					0	0	0.004672	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455038	187455038	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:187455038G>A	ENST00000307161.5	-	2	1059	c.858C>T	c.(856-858)ttC>ttT	p.F286F	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	286					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GGCAGCTGTTGAAATACGCCA	0.507000													17	52					0	0	0.007413	0	0
HSPB2	3316	broad.mit.edu	37	11	111784511	111784511	+	Silent	SNP	T	T	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:111784511T>A	ENST00000304298.3	+	2	1029	c.441T>A	c.(439-441)ccT>ccA	p.P147P	HSPB2_ENST00000537382.1_Silent_p.P147P|CRYAB_ENST00000533475.1_5'UTR|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000527950.1_Intron	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	147					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		TGGAAGCACCTCGGGGTGGCC	0.592000													18	15					0	0	0.006122	0	0
UPP2	151531	broad.mit.edu	37	2	158974375	158974375	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:158974375G>A	ENST00000605860.1	+	7	596	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	UPP2_ENST00000409859.4_Missense_Mutation_p.E184K|UPP2_ENST00000005756.4_Missense_Mutation_p.E127K|UPP2_ENST00000460456.1_Intron			O95045	UPP2_HUMAN	uridine phosphorylase 2	127					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						TATGCTTCATGAACTCATCAA	0.423000													16	21					0	0	0.004990	0	0
MYH8	4626	broad.mit.edu	37	17	10300150	10300150	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:10300150G>A	ENST00000403437.2	-	31	4426	c.4332C>T	c.(4330-4332)gcC>gcT	p.A1444A	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1444					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP 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						TCTTATCAAGGGCTGCACAGG	0.463000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				17	34					0	0	0.006122	0	0
GDF10	2662	broad.mit.edu	37	10	48428967	48428967	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:48428967C>T	ENST00000224605.2	-	2	1184	c.919G>A	c.(919-921)Gat>Aat	p.D307N		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	307					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGCCTCTCATCCAGCCCCGGC	0.746000													3	9					0	0	0.004672	0	0
CNGB3	54714	broad.mit.edu	37	8	87679189	87679189	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:87679189C>T	ENST00000320005.5	-	6	863	c.816G>A	c.(814-816)caG>caA	p.Q272Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	272					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GGAGTCTGGGCTGGATAAATA	0.418000													7	19					0	0	0.008291	0	0
HYDIN	54768	broad.mit.edu	37	16	70954932	70954932	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:70954932G>A	ENST00000393567.2	-	46	7497	c.7347C>T	c.(7345-7347)ccC>ccT	p.P2449P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2449										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTTGCTTGTCGGGGTCCTTTG	0.507000													10	18					0	0	0.007413	0	0
OLFML2B	25903	broad.mit.edu	37	1	161954616	161954616	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:161954616C>T	ENST00000294794.3	-	7	2052	c.1629G>A	c.(1627-1629)cgG>cgA	p.R543R	OLFML2B_ENST00000367938.1_Silent_p.R26R|OLFML2B_ENST00000367940.2_Silent_p.R544R	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	543	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TCTCCAGGTTCCGGAACTCTA	0.517000													22	138					0	0	0.003330	0	0
PANK4	55229	broad.mit.edu	37	1	2452661	2452661	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:2452661T>G	ENST00000378466.3	-	3	313	c.301A>C	c.(301-303)Atc>Ctc	p.I101L	PANK4_ENST00000435556.3_Missense_Mutation_p.I101L	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	101					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CAGGCTTCGATGTAGGTATTC	0.498000													33	64					0	0	0.002096	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011020	105011020	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:105011020C>T	ENST00000372582.1	+	11	2183	c.1427C>T	c.(1426-1428)cCa>cTa	p.P476L	IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.P81L|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P476L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	476	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGCTAACTCCAGACTATATT	0.378000													11	18					0	0	0.000978	0	0
LRRK2	120892	broad.mit.edu	37	12	40643669	40643669	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:40643669T>G	ENST00000298910.7	+	8	938	c.880T>G	c.(880-882)Ttt>Gtt	p.F294V	LRRK2_ENST00000343742.2_Missense_Mutation_p.F294V	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	294					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGTCCATGAGTTTGTGGTGAA	0.393000													5	4					0	0	0.000602	0	0
NT5DC2	64943	broad.mit.edu	37	3	52561704	52561704	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:52561704G>A	ENST00000307076.4	-	9	1255	c.855C>T	c.(853-855)ccC>ccT	p.P285P	NT5DC2_ENST00000459839.1_Silent_p.P297P|NT5DC2_ENST00000307092.4_Silent_p.P226P|NT5DC2_ENST00000422318.2_Silent_p.P322P	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	285							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GGCGCCAATCGGGACCCACCA	0.627000													6	24					0	0	0.001984	0	0
TRDV1	28518	broad.mit.edu	37	14	22564822	22564822	+	RNA	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:22564822G>A	ENST00000390452.2	+	0	291																											AGAAAGCAGCGAAATCCGTCG	0.423000													6	19					0	0	0.001984	0	0
PPP6R2	9701	broad.mit.edu	37	22	50845137	50845137	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr22:50845137G>A	ENST00000359139.3	+	4	641	c.247G>A	c.(247-249)Gag>Aag	p.E83K	PPP6R2_ENST00000216061.5_Missense_Mutation_p.E83K|PPP6R2_ENST00000395744.3_Missense_Mutation_p.E83K|PPP6R2_ENST00000395741.3_Missense_Mutation_p.E83K	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	83						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CACAGCCTGTGAGCTTCTGAC	0.527000													21	141					0	0	0.002299	0	0
TELO2	9894	broad.mit.edu	37	16	1544322	1544322	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:1544322G>A	ENST00000262319.6	+	2	319	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	14						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CGCCGTCCGGGAAGCCATTCA	0.622000											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	34					0	0	0.004990	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282015	52282015	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:52282015G>A	ENST00000301190.6	+	1	272	c.45G>A	c.(43-45)ggG>ggA	p.G15G	ANKRD33_ENST00000340970.4_5'UTR|ANKRD33_ENST00000538991.1_5'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CCTGGGGAGGGATAGTCCACC	0.597000													17	80					0	0	0.008871	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810423	106810423	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:106810423G>A	ENST00000526355.1	-	4	1437	c.969C>T	c.(967-969)ttC>ttT	p.F323F	GUCY1A2_ENST00000347596.2_Silent_p.F323F|GUCY1A2_ENST00000282249.2_Silent_p.F323F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	323					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGGCTCTACAGAAGGTGTTGA	0.453000													3	7					0	0	0.004672	0	0
SOX10	6663	broad.mit.edu	37	22	38369509	38369509	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr22:38369509C>T	ENST00000396884.2	-	4	1676	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.R465Q	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	465						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCTTTAGGGCCGGGACAGTGT	0.697000													4	1					0	0	0.000248	0	0
CYP19A1	1588	broad.mit.edu	37	15	51504711	51504711	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:51504711C>T	ENST00000396402.1	-	9	1222	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	CYP19A1_ENST00000260433.2_Missense_Mutation_p.E357K|CYP19A1_ENST00000396404.4_Missense_Mutation_p.E357K|CYP19A1_ENST00000559878.1_Missense_Mutation_p.E357K|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	357					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	ATGAAGTTTTCCATCACTTTT	0.388000													13	13					0	0	0.001855	0	0
PELI2	57161	broad.mit.edu	37	14	56763440	56763440	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:56763440C>T	ENST00000267460.4	+	6	1105	c.819C>T	c.(817-819)ctC>ctT	p.L273L		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	273					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TAGAAGCCCTCCGGCAGGAGA	0.587000													4	23					0	0	0.000602	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641622	106641622	+	RNA	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:106641622C>T	ENST00000390605.2	-	0	350																											TCCATGTAGGCTGTGCTCGTG	0.522000													18	68					0	0	0.007413	0	0
CHRM2	1129	broad.mit.edu	37	7	136700910	136700910	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:136700910G>A	ENST00000445907.2	+	3	1826	c.1298G>A	c.(1297-1299)aGc>aAc	p.S433N	AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.S433N|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.S433N|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S433N|CHRM2_ENST00000402486.3_Missense_Mutation_p.S433N|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.S433N|AC009264.1_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	433					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|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)	TACATCAACAGCACTATCAAC	0.453000													13	19					0	0	0.002450	0	0
TMEM130	222865	broad.mit.edu	37	7	98445848	98445848	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:98445848G>A	ENST00000416379.2	-	8	1143	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000546258.1_Intron|TMEM130_ENST00000450876.1_Intron|TMEM130_ENST00000339375.4_Intron			Q8N3G9	TM130_HUMAN	transmembrane protein 130	380						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGACATGGGGGAAAAGTCAAA	0.567000													12	29					0	0	0.001855	0	0
SPTBN2	6712	broad.mit.edu	37	11	66457350	66457350	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:66457350G>A	ENST00000533211.1	-	29	6206	c.5875C>T	c.(5875-5877)Cgg>Tgg	p.R1959W	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1959W|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1959W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1959					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGGTCTGCCCGGGCCTCTATC	0.642000													8	25					0	0	0.004482	0	0
FAM177B	400823	broad.mit.edu	37	1	222920396	222920396	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:222920396G>A	ENST00000445590.2	+	4	480	c.214G>A	c.(214-216)Gga>Aga	p.G72R	FAM177B_ENST00000360827.2_Missense_Mutation_p.G72R	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	72										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						ATTTTGGGCAGGACGAATAGC	0.388000													15	30					0	0	0.007413	0	0
CATSPER1	117144	broad.mit.edu	37	11	65790426	65790426	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:65790426C>T	ENST00000312106.5	-	2	1460	c.1323G>A	c.(1321-1323)cgG>cgA	p.R441R		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	441					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGGTCAGGTTCCGGATCATTT	0.542000											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	31					0	0	0.005443	0	0
ADORA1	134	broad.mit.edu	37	1	203134427	203134427	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:203134427C>T	ENST00000367236.4	+	3	1301	c.380C>T	c.(379-381)gCc>gTc	p.A127V	ADORA1_ENST00000309502.3_Missense_Mutation_p.A127V|ADORA1_ENST00000337894.4_Missense_Mutation_p.A127V|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000472535.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	127					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GCGGCGGTGGCCATAGCCGGC	0.657000													16	21					0	0	0.006122	0	0
MGAM	8972	broad.mit.edu	37	7	141760163	141760163	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:141760163G>A	ENST00000475668.2	+	34	4166	c.4112G>A	c.(4111-4113)aGc>aAc	p.S1371N	MGAM_ENST00000549489.2_Missense_Mutation_p.S1371N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1371	Glucoamylase.				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)	GACTGGGACAGCCAAGTGGAG	0.493000													7	16					0	0	0.004482	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657713	72657713	+	RNA	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:72657713G>A	ENST00000425256.1	-	0	2198					NR_002164.1																						ttcatttctggaaaccaattt	0.468000													50	75					0	0	0.003610	0	0
FAM66D	100132923	broad.mit.edu	37	8	11985719	11985719	+	RNA	SNP	A	A	T	rs71511003	by1000genomes	TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:11985719A>T	ENST00000434078.2	+	0	608					NR_027425.1																						CTGTTGACTCAAAGGAGAAGT	0.463000													3	6					0	0	0.000248	0	0
HERC2	8924	broad.mit.edu	37	15	28502277	28502277	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:28502277G>A	ENST00000261609.7	-	17	2555	c.2447C>T	c.(2446-2448)tCc>tTc	p.S816F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	816					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCAGTCCGCGGAACCATCCAT	0.552000													20	52					0	0	0.007413	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				6	29					0	0	0.001984	0	0
PRPF8	10594	broad.mit.edu	37	17	1585565	1585565	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:1585565C>T	ENST00000572621.1	-	3	557	c.292G>A	c.(292-294)Gca>Aca	p.A98T	PRPF8_ENST00000304992.6_Missense_Mutation_p.A98T			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	98						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTGAGGACTGCGTGGGGCATG	0.507000													16	54					0	0	0.008871	0	0
TRPM5	29850	broad.mit.edu	37	11	2437152	2437152	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:2437152C>T	ENST00000452833.1	-	8	1126	c.1118G>A	c.(1117-1119)gGg>gAg	p.G373E	TRPM5_ENST00000533060.1_Missense_Mutation_p.G371E|TRPM5_ENST00000155858.6_Missense_Mutation_p.G371E|TRPM5_ENST00000528453.1_Missense_Mutation_p.G371E			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	371						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTCCACGTCCCCATTGAAGAT	0.642000													68	87					0	0	0.003610	0	0
MYH2	4620	broad.mit.edu	37	17	10431190	10431190	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:10431190C>T	ENST00000245503.5	-	28	4130	c.3744_splice	c.e28-1	p.G1249_splice	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Splice_Site_p.G1249_splice|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1249					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						CTCTAGGTTTCCCTATAGAAG	0.403000													11	29					0	0	0.008291	0	0
NBEAL1	65065	broad.mit.edu	37	2	203921152	203921152	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:203921152A>C	ENST00000449802.1	+	5	641	c.308A>C	c.(307-309)aAt>aCt	p.N103T	NBEAL1_ENST00000478884.1_3'UTR	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	103							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCTCACAGAAATCTATCAAAT	0.328000													44	181					0	0	0.003610	0	0
PHF7	51533	broad.mit.edu	37	3	52456779	52456779	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:52456779G>A	ENST00000327906.3	+	10	1461	c.801G>A	c.(799-801)agG>agA	p.R267R	PHF7_ENST00000478707.1_Silent_p.R267R|PHF7_ENST00000347025.2_Silent_p.R228R	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	267						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CCTCTAGGAGGTGGTGCCTCA	0.502000													12	86					0	0	0.001855	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89416962	89416962	+	RNA	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:89416962G>A	ENST00000490686.1	-	0	248																											TTTGCAAACTGGATGCAGCAT	0.507000													11	47					0	0	0.008291	0	0
DUSP1	1843	broad.mit.edu	37	5	172197251	172197251	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:172197251G>A	ENST00000239223.3	-	2	668	c.426C>T	c.(424-426)ccC>ccT	p.P142P	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	142					cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		TGAGCCCCATGGGGGTCGACT	0.552000													4	10					0	0	0.000248	0	0
SCAND3	114821	broad.mit.edu	37	6	28547172	28547172	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:28547172C>T	ENST00000452236.2	-	2	1062	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	149					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATAGAAACTTCCTGCCCATAT	0.413000													26	18					0	0	0.003954	0	0
PCED1B	91523	broad.mit.edu	37	12	47629311	47629311	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:47629311C>T	ENST00000546455.1	+	4	1196	c.465C>T	c.(463-465)ccC>ccT	p.P155P	PCED1B_ENST00000432328.1_Silent_p.P155P					PC-esterase domain containing 1B																		AGGTGCTGCCCGAGTCTTGCC	0.622000													7	55					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13839615	13839615	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:13839615G>A	ENST00000265104.4	-	35	5836	c.5732C>T	c.(5731-5733)cCc>cTc	p.P1911L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1911	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGTCCATGGGACTCTTGAT	0.358000									Kartagener syndrome				3	16					0	0	0.004672	0	0
CELSR1	9620	broad.mit.edu	37	22	46930320	46930320	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr22:46930320G>A	ENST00000262738.3	-	1	2747	c.2748C>T	c.(2746-2748)gcC>gcT	p.A916A	CELSR1_ENST00000395964.1_Silent_p.A916A	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	916	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCCGGTCCGTGGCAGAGACCT	0.597000													4	33					0	0	0.000602	0	0
GNA11	2767	broad.mit.edu	37	19	3114976	3114976	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:3114976G>A	ENST00000078429.4	+	4	753	c.511G>A	c.(511-513)Ggc>Agc	p.G171S		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	171					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CGCCACCTTGGGCTACCTGCC	0.667000			Mis		uveal melanoma								31	49					0	0	0.001786	0	0
CELF3	11189	broad.mit.edu	37	1	151678358	151678358	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:151678358C>G	ENST00000290583.4	-	11	2003	c.1210G>C	c.(1210-1212)Ggc>Cgc	p.G404R	CELF3_ENST00000392706.3_Missense_Mutation_p.G199R|CELF3_ENST00000290585.4_Missense_Mutation_p.G354R|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	404	RRM 3.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						ATGACGTGGCCAAAGGGGACA	0.483000													24	58					0	0	0.002780	0	0
NFATC4	4776	broad.mit.edu	37	14	24838810	24838810	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:24838810C>T	ENST00000413692.2	+	3	539	c.395C>T	c.(394-396)cCt>cTt	p.P132L	NFATC4_ENST00000539237.2_Missense_Mutation_p.P101L|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554591.1_Missense_Mutation_p.P132L|NFATC4_ENST00000554966.1_Missense_Mutation_p.P82L|NFATC4_ENST00000554344.1_5'UTR|NFATC4_ENST00000250373.4_Missense_Mutation_p.P69L|NFATC4_ENST00000553469.1_Missense_Mutation_p.P101L|NFATC4_ENST00000424781.2_Missense_Mutation_p.P82L|NFATC4_ENST00000555590.1_Missense_Mutation_p.P82L|NFATC4_ENST00000556169.1_Missense_Mutation_p.P57L|NFATC4_ENST00000555453.1_Missense_Mutation_p.P57L|NFATC4_ENST00000553879.1_5'UTR|NFATC4_ENST00000422617.3_Missense_Mutation_p.P57L|NFATC4_ENST00000553708.1_Missense_Mutation_p.P69L|NFATC4_ENST00000554661.1_5'UTR|NFATC4_ENST00000554050.1_Missense_Mutation_p.P69L|NFATC4_ENST00000556279.1_Missense_Mutation_p.P101L|NFATC4_ENST00000557451.1_5'UTR	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	69	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCCCCTCGGCCTGGCATGCAT	0.701000													11	40					0	0	0.001368	0	0
PPP2R4	5524	broad.mit.edu	37	9	131909681	131909681	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:131909681C>T	ENST00000337738.1	+	11	1282	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	PPP2R4_ENST00000347048.4_Missense_Mutation_p.P85S|PPP2R4_ENST00000419582.1_Missense_Mutation_p.P42S|PPP2R4_ENST00000434095.1_Missense_Mutation_p.P42S|PPP2R4_ENST00000355007.3_Missense_Mutation_p.P262S|PPP2R4_ENST00000432651.1_Missense_Mutation_p.P42S|PPP2R4_ENST00000414510.1_Missense_Mutation_p.P42S|PPP2R4_ENST00000423100.1_Missense_Mutation_p.P42S|PPP2R4_ENST00000358994.4_Missense_Mutation_p.P304S|PPP2R4_ENST00000393370.2_Missense_Mutation_p.P304S|PPP2R4_ENST00000357197.4_Missense_Mutation_p.P275S|PPP2R4_ENST00000435132.1_Missense_Mutation_p.P42S|PPP2R4_ENST00000348141.5_Missense_Mutation_p.P310S	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	339					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GGAGAAGTTCCCTGTGATCCA	0.632000													11	23					0	0	0.001368	0	0
PRTG	283659	broad.mit.edu	37	15	55965814	55965814	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:55965814G>A	ENST00000389286.4	-	10	1654	c.1607C>T	c.(1606-1608)tCc>tTc	p.S536F		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	536	Fibronectin type-III 2.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGGCAGCCAGGAGATGAGAAT	0.448000													23	46					0	0	0.003330	0	0
CAPNS1	826	broad.mit.edu	37	19	36637136	36637136	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:36637136C>T	ENST00000246533.3	+	9	1241	c.643C>T	c.(643-645)Cga>Tga	p.R215*	AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Nonsense_Mutation_p.R225*|CAPNS1_ENST00000590874.1_Nonsense_Mutation_p.R185*|CAPNS1_ENST00000589146.1_Nonsense_Mutation_p.R41*|CAPNS1_ENST00000588815.1_Nonsense_Mutation_p.R215*|CAPNS1_ENST00000587718.1_Nonsense_Mutation_p.R215*	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	215	EF-hand 4.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CATGATCATCCGACGCTACTC	0.527000													21	92					0	0	0.001882	0	0
LRP2	4036	broad.mit.edu	37	2	170135937	170135937	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:170135937G>A	ENST00000263816.3	-	12	1795	c.1510C>T	c.(1510-1512)Ctt>Ttt	p.L504F	LRP2_ENST00000443831.1_Missense_Mutation_p.L504F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	504					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCAGTTATAAGGGTAACCCGA	0.398000													10	24					0	0	0.008291	0	0
GK	2710	broad.mit.edu	37	X	30745606	30745606	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:30745606C>T	ENST00000378943.3	+	19	1767	c.1588C>T	c.(1588-1590)Ctg>Ttg	p.L530L	GK_ENST00000378946.3_Intron|GK_ENST00000378945.3_Intron|GK_ENST00000427190.1_Silent_p.L331L	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	536					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CTTCTGTAGTCTGCCCTTGGG	0.373000													8	17					0	0	0.006214	0	0
PHLDB2	90102	broad.mit.edu	37	3	111658337	111658337	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:111658337G>A	ENST00000431670.2	+	7	2557	c.2146G>A	c.(2146-2148)Gat>Aat	p.D716N	PHLDB2_ENST00000393923.3_Missense_Mutation_p.D700N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.D673N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.D673N|PHLDB2_ENST00000495180.1_Missense_Mutation_p.D302N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.D716N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	716						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGACCTGTTGGATGTTGAAAG	0.413000													5	21					0	0	0.000602	0	0
FAM189B	10712	broad.mit.edu	37	1	155220925	155220925	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:155220925C>T	ENST00000361361.2	-	8	1434	c.925G>A	c.(925-927)Ggc>Agc	p.G309S	FAM189B_ENST00000350210.2_Missense_Mutation_p.G213S|FAM189B_ENST00000368368.3_Missense_Mutation_p.G291S|FAM189B_ENST00000472550.1_5'UTR	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	309						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATGCACGAGCCATCGTGAAGC	0.592000											OREG0013858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	19					0	0	0.000978	0	0
GNA11	2767	broad.mit.edu	37	19	3114975	3114975	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:3114975G>A	ENST00000078429.4	+	4	752	c.510G>A	c.(508-510)ttG>ttA	p.L170L		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	170					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		TCGCCACCTTGGGCTACCTGC	0.667000			Mis		uveal melanoma								32	48					0	0	0.002096	0	0
ABCA9	10350	broad.mit.edu	37	17	66985995	66985995	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:66985995T>C	ENST00000340001.4	-	30	4125	c.3914A>G	c.(3913-3915)aAa>aGa	p.K1305R	ABCA9_ENST00000370732.2_Missense_Mutation_p.K1305R|ABCA9_ENST00000453985.2_Missense_Mutation_p.K1267R	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1305	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGCAATTTTTTTCTTCCTTTT	0.353000													11	12					0	0	0.001368	0	0
ZNF302	55900	broad.mit.edu	37	19	35175586	35175586	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:35175586T>C	ENST00000505242.1	+	5	1138	c.644T>C	c.(643-645)aTc>aCc	p.I215T	ZNF302_ENST00000457781.2_Missense_Mutation_p.I215T|ZNF302_ENST00000423823.2_Missense_Mutation_p.I215T|ZNF302_ENST00000446502.2_Missense_Mutation_p.I259T|ZNF302_ENST00000505365.2_3'UTR			Q9NR11	ZN302_HUMAN	zinc finger protein 302	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AAACAGTCAATCCTCAGTCGC	0.453000													11	39					0	0	0.001368	0	0
OR2T3	343173	broad.mit.edu	37	1	248637424	248637424	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:248637424G>A	ENST00000359594.2	+	1	798	c.773G>A	c.(772-774)gGt>gAt	p.G258D		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCTCTTCGGTGCTTCCTTC	0.547000													27	97					0	0	0.006320	0	0
KRT38	8687	broad.mit.edu	37	17	39594521	39594521	+	Silent	SNP	G	G	A	rs146972741		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:39594521G>A	ENST00000246646.3	-	6	1064	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	355	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCTCCGTGCCGAAGCGGTCCT	0.567000													19	23					0	0	0.008871	0	0
CSMD3	114788	broad.mit.edu	37	8	113988232	113988232	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:113988232C>T	ENST00000297405.5	-	7	1420	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Silent_p.E352E|CSMD3_ENST00000352409.3_Silent_p.E392E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	392						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCGCTGTTCCTCGGAAAGTC	0.498000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	25					0	0	0.002450	0	0
NEMF	9147	broad.mit.edu	37	14	50267277	50267277	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:50267277C>T	ENST00000298310.5	-	23	2682	c.2233G>A	c.(2233-2235)Gaa>Aaa	p.E745K	NEMF_ENST00000545773.1_Missense_Mutation_p.E703K|NEMF_ENST00000546046.1_Missense_Mutation_p.E724K|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	745						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GAGCTTTCTTCCTGAATGAGC	0.413000													8	40					0	0	0.004482	0	0
ZNF17	7565	broad.mit.edu	37	19	57931243	57931243	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:57931243G>C	ENST00000307658.7	+	4	652	c.389G>C	c.(388-390)aGt>aCt	p.S130T	ZNF17_ENST00000595206.1_3'UTR|ZNF17_ENST00000601808.1_Missense_Mutation_p.S128T|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Missense_Mutation_p.140_140insT			P17021	ZNF17_HUMAN	zinc finger protein 17	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CTCACCAGAAGTGATGAAGGG	0.498000													8	33					0	0	0.003080	0	0
MUC2	4583	broad.mit.edu	37	11	1097262	1097262	+	Silent	SNP	G	G	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:1097262G>C	ENST00000441003.2	+	35	6705	c.6678G>C	c.(6676-6678)gtG>gtC	p.V2226V	MUC2_ENST00000361558.6_Silent_p.V364V	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4588						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCAACTACGTGGTGGACATCC	0.607000													15	10					0	0	0.004007	0	0
HEXDC	284004	broad.mit.edu	37	17	80382341	80382341	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:80382341G>A	ENST00000337014.6	+	3	630	c.156G>A	c.(154-156)gaG>gaA	p.E52E	HEXDC_ENST00000577944.1_Silent_p.E52E|HEXDC_ENST00000327949.9_Silent_p.E52E	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	52					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TTCCCTACGAGGGCCCTCTGA	0.597000													19	35					0	0	0.001882	0	0
ACAP2	23527	broad.mit.edu	37	3	195000119	195000119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:195000119G>A	ENST00000326793.6	-	23	2505	c.2275C>T	c.(2275-2277)Caa>Taa	p.Q759*	ACAP2_ENST00000472860.1_5'UTR	NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	759					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GATGCCATTTGGGAAAAATCA	0.303000													11	51					0	0	0.000978	0	0
OTOF	9381	broad.mit.edu	37	2	26699830	26699830	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:26699830C>T	ENST00000272371.2	-	22	2731	c.2605G>A	c.(2605-2607)Gac>Aac	p.D869N	OTOF_ENST00000402415.3_Missense_Mutation_p.D179N|OTOF_ENST00000339598.3_Missense_Mutation_p.D122N|OTOF_ENST00000403946.3_Missense_Mutation_p.D869N|OTOF_ENST00000338581.6_Missense_Mutation_p.D122N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	869					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAGCAGGTCCTTGGAGGGC	0.612000													4	22					0	0	0.000248	0	0
HMCN1	83872	broad.mit.edu	37	1	185987424	185987424	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:185987424C>T	ENST00000271588.4	+	34	5639	c.5410C>T	c.(5410-5412)Cgg>Tgg	p.R1804W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R1804W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1804	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGCCTTTATCGGTGCATGGC	0.418000													10	16					0	0	0.006214	0	0
PTPN21	11099	broad.mit.edu	37	14	88946268	88946268	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:88946268G>A	ENST00000556564.1	-	13	1791	c.1507C>T	c.(1507-1509)Ccc>Tcc	p.P503S	PTPN21_ENST00000328736.3_Missense_Mutation_p.P503S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	503						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCTGGCGAGGGGAGCTGTGCG	0.701000													9	30					0	0	0.006214	0	0
TRMT44	152992	broad.mit.edu	37	4	8472856	8472856	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:8472856C>T	ENST00000389737.4	+	10	1973	c.1973C>T	c.(1972-1974)aCc>aTc	p.T658I		NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		GACACGGAGACCCTGCGGAGG	0.572000													43	64					0	0	0.002522	0	0
COL4A4	1286	broad.mit.edu	37	2	227924291	227924291	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:227924291G>A	ENST00000396625.3	-	28	2420	c.2213C>T	c.(2212-2214)tCc>tTc	p.S738F	COL4A4_ENST00000329662.7_Missense_Mutation_p.S738F	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	738	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AACAGGGGAGGACCCCTTTTC	0.512000													16	47					0	0	0.008871	0	0
ART3	419	broad.mit.edu	37	4	77003171	77003171	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:77003171G>A	ENST00000355810.4	+	3	383	c.264G>A	c.(262-264)atG>atA	p.M88I	ART3_ENST00000513494.1_3'UTR|ART3_ENST00000341029.5_Missense_Mutation_p.M88I|ART3_ENST00000349321.3_Missense_Mutation_p.M88I	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	88					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTCTCCCTATGAATTTTAAGG	0.428000													5	30					0	0	0.000602	0	0
CHD5	26038	broad.mit.edu	37	1	6195313	6195313	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:6195313C>T	ENST00000262450.3	-	18	2946	c.2847G>A	c.(2845-2847)cgG>cgA	p.R949R	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	949					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCAGCTCCACCCGGACAATGA	0.617000													30	28					0	0	0.008361	0	0
FAM196A	642938	broad.mit.edu	37	10	128974537	128974537	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:128974537C>T	ENST00000522781.1	-	4	678	c.123G>A	c.(121-123)cgG>cgA	p.R41R	FAM196A_ENST00000424811.2_Silent_p.R41R|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	41										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGGCTTTGTTCCGTTTTTTAA	0.582000													14	98					0	0	0.002450	0	0
SPG20	23111	broad.mit.edu	37	13	36909411	36909411	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr13:36909411G>A	ENST00000451493.1	-	2	774	c.557C>T	c.(556-558)tCc>tTc	p.S186F	SPG20_ENST00000494062.2_Missense_Mutation_p.S186F|SPG20_ENST00000355182.4_Missense_Mutation_p.S186F|SPG20_ENST00000438666.2_Missense_Mutation_p.S186F|SPG20_ENST00000495510.1_5'UTR	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	186					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TGTTCCATAGGATACAGTGTA	0.478000													9	20					0	0	0.000978	0	0
MAGT1	84061	broad.mit.edu	37	X	77112981	77112981	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:77112981G>A	ENST00000358075.6	-	4	586	c.500C>T	c.(499-501)tCa>tTa	p.S167L		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	135					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						AGTTGGAGCTGAATTCATGTT	0.378000													32	59					0	0	0.003271	0	0
CPED1	79974	broad.mit.edu	37	7	120906769	120906769	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:120906769C>T	ENST00000310396.5	+	20	3007	c.2540C>T	c.(2539-2541)cCc>cTc	p.P847L		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AGATCACGTCCCCTAGAGAAT	0.398000													7	12					0	0	0.003080	0	0
NBEA	26960	broad.mit.edu	37	13	35619123	35619123	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr13:35619123G>A	ENST00000400445.3	+	3	1100	c.566G>A	c.(565-567)aGc>aAc	p.S189N	NBEA_ENST00000379939.2_Missense_Mutation_p.S189N|NBEA_ENST00000310336.4_Missense_Mutation_p.S189N|NBEA_ENST00000540320.1_Missense_Mutation_p.S189N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	189						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCCAGCTACAGCATCACTGTC	0.433000													4	8					0	0	0.000248	0	0
CRELD2	79174	broad.mit.edu	37	22	50313864	50313864	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr22:50313864C>T	ENST00000404488.3	+	4	519	c.384C>T	c.(382-384)tgC>tgT	p.C128C	CRELD2_ENST00000403427.3_Silent_p.C128C|CRELD2_ENST00000328268.4_Silent_p.C128C|CRELD2_ENST00000407217.3_Silent_p.C128C	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	128						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		AAGTGTGCTGCTCTCCAGGAA	0.498000													22	26					0	0	0.002780	0	0
CCDC108	255101	broad.mit.edu	37	2	219871203	219871203	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:219871203G>A	ENST00000341552.5	-	30	4786	c.4703C>T	c.(4702-4704)cCt>cTt	p.P1568L	CCDC108_ENST00000453220.1_Missense_Mutation_p.P1568L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1568L|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1568						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCCTCGCAGGTTCACAGGC	0.572000													40	78					0	0	0.003610	0	0
MMS22L	253714	broad.mit.edu	37	6	97599671	97599671	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:97599671G>A	ENST00000275053.4	-	23	3723	c.3458C>T	c.(3457-3459)tCc>tTc	p.S1153F	MMS22L_ENST00000369251.2_Missense_Mutation_p.S1113F	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1153					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGCTGGGAGGAAGGTTCTTC	0.428000													12	37					0	0	0.002450	0	0
C6orf10	10665	broad.mit.edu	37	6	32317528	32317528	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:32317528C>T	ENST00000375015.4	-	9	469	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	C6orf10_ENST00000442822.2_Missense_Mutation_p.R83Q|C6orf10_ENST00000527965.1_Missense_Mutation_p.R83Q|C6orf10_ENST00000375007.4_Missense_Mutation_p.R111Q|C6orf10_ENST00000447241.2_Missense_Mutation_p.R113Q|C6orf10_ENST00000533191.1_Missense_Mutation_p.R90Q			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	90						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						AATACTTGATCGAGACAGTGC	0.383000													5	30					0	0	0.000602	0	0
CRP	1401	broad.mit.edu	37	1	159683548	159683548	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:159683548C>T	ENST00000255030.5	-	2	545	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	CRP_ENST00000437342.1_5'UTR|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000368111.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	148	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	ATGCTTGCTTCTGCCCCCACA	0.547000													105	180					0	0	0.003610	0	0
SLIT2	9353	broad.mit.edu	37	4	20591305	20591305	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:20591305G>A	ENST00000504154.1	+	30	3379	c.3127G>A	c.(3127-3129)Gac>Aac	p.D1043N	SLIT2_ENST00000503837.1_Missense_Mutation_p.D1039N|SLIT2_ENST00000503823.1_Missense_Mutation_p.D1035N|SLIT2_ENST00000273739.5_Missense_Mutation_p.D1056N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1043	EGF-like 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTGTGCCCAGGACCTGAACCC	0.507000													7	35					0	0	0.003080	0	0
STX2	2054	broad.mit.edu	37	12	131283119	131283119	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:131283119G>A	ENST00000261653.6	-	9	903	c.737C>T	c.(736-738)gCt>gTt	p.A246V	STX2_ENST00000392373.2_Missense_Mutation_p.A246V	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	246	t-SNARE coiled-coil homology.				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TTCTTCTTTAGCGTGTTCTAC	0.338000													24	88					0	0	0.005443	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370147	35370147	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:35370147G>A	ENST00000373347.1	-	3	1106	c.838C>T	c.(838-840)Cct>Tct	p.P280S	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P280S			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	280					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.P280A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGCTCCCCAGGGGGCCTCCCA	0.677000													7	61					0	0	0.001984	0	0
GPR50	9248	broad.mit.edu	37	X	150348293	150348293	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:150348293T>A	ENST00000218316.3	+	2	307	c.238T>A	c.(238-240)Tac>Aac	p.Y80N		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	80					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGCCATCTACCCATACCC	0.522000													42	242					0	0	0.003610	0	0
ABI3	51225	broad.mit.edu	37	17	47295174	47295174	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:47295174C>T	ENST00000225941.1	+	3	857	c.359C>T	c.(358-360)cCc>cTc	p.P120L	ABI3_ENST00000419580.2_Missense_Mutation_p.P114L	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	120					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CGGCTGCCCCCCGGCCAGAAG	0.602000										HNSCC(55;0.14)			10	30					0	0	0.001368	0	0
PCDH12	51294	broad.mit.edu	37	5	141335230	141335230	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:141335230G>A	ENST00000231484.3	-	1	3397	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	729					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCAACCCGAAGATGCCCA	0.592000													9	29					0	0	0.006214	0	0
SLIT2	9353	broad.mit.edu	37	4	20521064	20521064	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:20521064C>T	ENST00000504154.1	+	12	1370	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	SLIT2_ENST00000503837.1_Missense_Mutation_p.S377F|SLIT2_ENST00000503823.1_Missense_Mutation_p.S373F|SLIT2_ENST00000273739.5_Missense_Mutation_p.S377F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	373					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGACTGTTTTCCTTACAGCTC	0.313000													6	27					0	0	0.001168	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17965056	17965056	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:17965056G>A	ENST00000361221.3	+	20	2202		c.e20-1		ARHGEF10L_ENST00000452522.1_Splice_Site|ARHGEF10L_ENST00000375408.3_Splice_Site|ARHGEF10L_ENST00000375415.1_Splice_Site|ARHGEF10L_ENST00000434513.1_Splice_Site|ARHGEF10L_ENST00000375420.3_Splice_Site|ARHGEF10L_ENST00000469726.1_Splice_Site|ARHGEF10L_ENST00000167825.4_Splice_Site	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like						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)		CTGAACCCTAGAACCTGAACA	0.562000													16	26					0	0	0.006122	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90499936	90499936	+	Silent	SNP	G	G	A	rs147565798		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:90499936G>A	ENST00000325643.5	+	4	600	c.534G>A	c.(532-534)ggG>ggA	p.G178G		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		AGCCGCATGGGAAATGCATGC	0.642000													16	37					0	0	0.004990	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	37					0	0	0.000248	0	0
SSH1	54434	broad.mit.edu	37	12	109182779	109182779	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:109182779G>A	ENST00000326495.5	-	15	2228	c.2135C>T	c.(2134-2136)cCc>cTc	p.P712L	SSH1_ENST00000360239.3_Missense_Mutation_p.P400L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	712					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TAGGAACGGGGGAGGTTCGGT	0.657000													5	57					0	0	0.001168	0	0
OR6C3	254786	broad.mit.edu	37	12	55726246	55726246	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:55726246C>T	ENST00000379667.1	+	1	762	c.762C>T	c.(760-762)ttC>ttT	p.F254F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	254					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						GCTGTATATTCATGTATGCTA	0.388000													4	14					0	0	0.000248	0	0
GLA	2717	broad.mit.edu	37	X	100656651	100656651	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:100656651A>C	ENST00000218516.3	-	3	537	c.516T>G	c.(514-516)tgT>tgG	p.C172W	GLA_ENST00000493905.1_Intron|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	172			C -> R (in FD).|C -> Y (in FD).		glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	TGTCACAGTAACAACCATCAA	0.438000													8	53					0	0	0.008291	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148800397	148800397	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:148800397G>A	ENST00000336498.3	+	9	1086	c.847G>A	c.(847-849)Ggt>Agt	p.G283S		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	283	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TGCTCCGTTTGGTTCCAGTTG	0.388000													20	31					0	0	0.008871	0	0
SCN3A	6328	broad.mit.edu	37	2	165984140	165984140	+	Splice_Site	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:165984140C>T	ENST00000360093.3	-	18	3885		c.e18+1		SCN3A_ENST00000283254.7_Splice_Site|SCN3A_ENST00000409101.3_Splice_Site	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit							voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGCATTCTTACCTCTTTGCTT	0.343000													7	15					0	0	0.001984	0	0
SLC12A6	9990	broad.mit.edu	37	15	34531303	34531303	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:34531303G>A	ENST00000354181.3	-	20	2987	c.2495C>T	c.(2494-2496)gCc>gTc	p.A832V	SLC12A6_ENST00000558589.1_Missense_Mutation_p.A823V|SLC12A6_ENST00000397702.2_Missense_Mutation_p.A773V|SLC12A6_ENST00000560164.1_Missense_Mutation_p.A644V|SLC12A6_ENST00000558667.1_Missense_Mutation_p.A832V|SLC12A6_ENST00000290209.5_Missense_Mutation_p.A781V|SLC12A6_ENST00000397707.2_Missense_Mutation_p.A817V|SLC12A6_ENST00000451844.2_Missense_Mutation_p.A644V|SLC12A6_ENST00000458406.2_Missense_Mutation_p.A773V|SLC12A6_ENST00000560611.1_Missense_Mutation_p.A832V			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	832					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CAGCTTGGCGGCCACCACCAG	0.552000													50	100					0	0	0.003610	0	0
SERINC1	57515	broad.mit.edu	37	6	122767981	122767981	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:122767981G>A	ENST00000368454.1	-	11	1493	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	SERINC1_ENST00000339697.3_Silent_p.F388F			Q9NRX5	SERC1_HUMAN	serine incorporator 1	388					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		TGAAGTGAAAGAAGGAATAAC	0.413000													5	15					0	0	0.000602	0	0
SLC38A1	81539	broad.mit.edu	37	12	46623362	46623362	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:46623362C>T	ENST00000398637.5	-	4	877	c.183G>A	c.(181-183)aaG>aaA	p.K61K	SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Silent_p.K61K|SLC38A1_ENST00000552197.1_Silent_p.K61K|SLC38A1_ENST00000546893.1_Silent_p.K61K|SLC38A1_ENST00000549049.1_Silent_p.K61K	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	61					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CATCACACTTCTTTTTTTCCA	0.284000													22	39					0	0	0.001882	0	0
CTBS	1486	broad.mit.edu	37	1	85029074	85029074	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:85029074G>A	ENST00000370630.4	-	6	871	c.823C>T	c.(823-825)Cct>Tct	p.P275S	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	275						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		CCCCGGAAAGGGACTTTTGCA	0.383000													4	28					0	0	0.000248	0	0
LRWD1	222229	broad.mit.edu	37	7	102108811	102108811	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:102108811G>A	ENST00000292616.5	+	7	1058	c.906G>A	c.(904-906)ccG>ccA	p.P302P		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	302					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CCTTCGAGCCGGCCTGGGAGG	0.652000													8	15					0	0	0.008291	0	0
ABHD15	116236	broad.mit.edu	37	17	27893573	27893573	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:27893573C>T	ENST00000307201.4	-	1	582	c.412G>A	c.(412-414)Gac>Aac	p.D138N	RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000584522.1_3'UTR	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	138						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						ACCACCCAGTCCAGGGCCACT	0.687000													4	15					0	0	0.000248	0	0
GDF2	2658	broad.mit.edu	37	10	48416352	48416352	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:48416352C>T	ENST00000249598.1	-	1	501	c.342G>A	c.(340-342)atG>atA	p.M114I		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	114					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCCTACCTTCCATGCTGAAGC	0.602000													6	19					0	0	0.001984	0	0
CDHR3	222256	broad.mit.edu	37	7	105672950	105672950	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:105672950G>A	ENST00000542731.1	+	19	2573	c.2465G>A	c.(2464-2466)cGc>cAc	p.R822H	CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000317716.9_Missense_Mutation_p.R822H|CDHR3_ENST00000478080.1_Missense_Mutation_p.R734H			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	822					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GCTGCCCCACGCAGAGTCACT	0.527000													11	31					0	0	0.000978	0	0
SAFB	6294	broad.mit.edu	37	19	5667119	5667119	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:5667119G>A	ENST00000292123.5	+	18	2504	c.2397G>A	c.(2395-2397)ggG>ggA	p.G799G	SAFB_ENST00000592224.1_Silent_p.G798G|SAFB_ENST00000454510.1_Silent_p.G730G|SAFB_ENST00000588852.1_Silent_p.G799G|SAFB_ENST00000433404.1_Silent_p.G629G|SAFB_ENST00000538656.1_Silent_p.G641G	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	799	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		ATGGCTGGGGGGGCTATGGCT	0.647000													9	27					0	0	0.004482	0	0
ZNF81	347344	broad.mit.edu	37	X	47775073	47775073	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:47775073C>T	ENST00000376954.1	+	6	1396	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	ZNF81_ENST00000338637.7_Missense_Mutation_p.S343L			P51508	ZNF81_HUMAN	zinc finger protein 81	343						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ATCCAGAATTCAGAATTAATT	0.358000													4	11					0	0	0.000602	0	0
GSPT2	23708	broad.mit.edu	37	X	51487452	51487452	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:51487452G>A	ENST00000340438.4	+	1	972	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	244					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AGAAGCTAAGGAAAAAAACAG	0.428000													6	22					0	0	0.001984	0	0
IRS1	3667	broad.mit.edu	37	2	227661607	227661607	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:227661607G>A	ENST00000305123.4	-	1	2868	c.1848C>T	c.(1846-1848)tcC>tcT	p.S616S		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	616					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCACCCCTGGGGACATGGGCA	0.632000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	19					0	0	0.001984	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559736	44559736	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr18:44559736G>A	ENST00000332567.4	-	1	2252	c.1900C>T	c.(1900-1902)Ccc>Tcc	p.P634S	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	634	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGCCGTTGGGGTTGTTTCCA	0.527000													33	92					0	0	0.003271	0	0
ABI3	51225	broad.mit.edu	37	17	47295175	47295175	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:47295175C>T	ENST00000225941.1	+	3	858	c.360C>T	c.(358-360)ccC>ccT	p.P120P	ABI3_ENST00000419580.2_Silent_p.P114P	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	120					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GGCTGCCCCCCGGCCAGAAGG	0.602000										HNSCC(55;0.14)			9	29					0	0	0.000978	0	0
CDH23	64072	broad.mit.edu	37	10	73558877	73558877	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:73558877T>G	ENST00000224721.6	+	50	7084	c.7079T>G	c.(7078-7080)aTt>aGt	p.I2360S	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.I115S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2355	Cadherin 22.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGGAAGGTCATTGCCAACCGG	0.587000													9	41					0	0	0.001368	0	0
C2orf42	54980	broad.mit.edu	37	2	70402819	70402819	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:70402819G>A	ENST00000264434.2	-	5	1404	c.1025C>T	c.(1024-1026)tCg>tTg	p.S342L	C2orf42_ENST00000420306.1_Missense_Mutation_p.S342L	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	342										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CCTTTTTAACGAGGAAGCAAC	0.448000													44	208					0	0	0.003610	0	0
SNF8	11267	broad.mit.edu	37	17	47014475	47014475	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:47014475A>G	ENST00000502492.1	-	4	638	c.256T>C	c.(256-258)Ttt>Ctt	p.F86L	SNF8_ENST00000290330.3_Missense_Mutation_p.F86L|SNF8_ENST00000514089.1_5'UTR			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	86					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding			breast(1)|endometrium(1)|lung(1)	3						TCAGACCAAAATCCTTTTCCA	0.423000													14	69					0	0	0.004007	0	0
DEGS1	8560	broad.mit.edu	37	1	224377583	224377583	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:224377583G>T	ENST00000323699.4	+	2	553	c.387G>T	c.(385-387)atG>atT	p.M129I	DEGS1_ENST00000465848.1_3'UTR|DEGS1_ENST00000391877.3_Missense_Mutation_p.M129I	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	129					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		GGTATCACATGGATCATCATC	0.428000													6	166					0.00116845	0.00199368	0.001168	1	0
RASGRP1	10125	broad.mit.edu	37	15	38808488	38808488	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:38808488C>T	ENST00000310803.5	-	6	762	c.585G>A	c.(583-585)cgG>cgA	p.R195R	RASGRP1_ENST00000558164.1_Silent_p.R195R|RASGRP1_ENST00000450598.2_Silent_p.R195R|RASGRP1_ENST00000559830.1_Silent_p.R195R|RASGRP1_ENST00000539159.1_Silent_p.R147R|RASGRP1_ENST00000561180.1_Silent_p.R246R	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	195					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GGGAGACTTTCCGTTTCTTGC	0.463000													9	25					0	0	0.004482	0	0
GLIPR1	11010	broad.mit.edu	37	12	75875727	75875727	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:75875727G>A	ENST00000266659.3	+	2	489	c.288G>A	c.(286-288)ctG>ctA	p.L96L		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	96					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TCACTTCACTGGGAGAGAACA	0.488000													24	28					0	0	0.003330	0	0
ADAD1	132612	broad.mit.edu	37	4	123314757	123314757	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:123314757C>T	ENST00000296513.2	+	6	728	c.543C>T	c.(541-543)ttC>ttT	p.F181F	ADAD1_ENST00000388724.2_Silent_p.F181F|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Silent_p.F163F	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	181					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTCCTCCTTTCCCTGCAGAAC	0.343000													4	18					0	0	0.000602	0	0
TRAPPC9	83696	broad.mit.edu	37	8	140743318	140743318	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:140743318C>T	ENST00000389328.4	-	23	3741	c.3727G>A	c.(3727-3729)Gag>Aag	p.E1243K	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.E1136K|TRAPPC9_ENST00000522504.1_5'UTR|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.E1145K	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1145					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GCCTGCGCCTCCAGGGCACAC	0.642000													10	20					0	0	0.006214	0	0
TCF7L2	6934	broad.mit.edu	37	10	114903757	114903757	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:114903757C>T	ENST00000355995.4	+	7	1268	c.761C>T	c.(760-762)cCc>cTc	p.P254L	TCF7L2_ENST00000538897.1_Missense_Mutation_p.P254L|TCF7L2_ENST00000352065.5_Missense_Mutation_p.P231L|TCF7L2_ENST00000369395.1_Missense_Mutation_p.P279L|TCF7L2_ENST00000355717.4_Missense_Mutation_p.P278L|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000349937.2_Missense_Mutation_p.P254L|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000543371.1_Missense_Mutation_p.P254L|TCF7L2_ENST00000545257.1_Missense_Mutation_p.P254L|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P231L|TCF7L2_ENST00000534894.1_Missense_Mutation_p.P254L|TCF7L2_ENST00000536810.1_Missense_Mutation_p.P254L			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	254	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GGACAAATCCCCCATCCGCTA	0.458000			T	VTI1A	colorectal								48	210					0	0	0.003610	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030446	10030446	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr20:10030446C>T	ENST00000378380.3	+	6	1558	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.S410L|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		GTCTTAGGATCGTATGGACCT	0.408000													10	14					0	0	0.001368	0	0
SYCP2L	221711	broad.mit.edu	37	6	10935386	10935386	+	Silent	SNP	T	T	G			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:10935386T>G	ENST00000283141.6	+	21	2075	c.1779T>G	c.(1777-1779)gcT>gcG	p.A593A		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	593						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATAGTTTTGCTTTTTTGACTG	0.348000													11	9					0	0	0.001368	0	0
TMTC3	160418	broad.mit.edu	37	12	88547269	88547269	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:88547269C>T	ENST00000266712.6	+	3	611	c.391C>T	c.(391-393)Cca>Tca	p.P131S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	131						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TGCAGTGCACCCAATACATAC	0.313000													11	8					0	0	0.000978	0	0
AOC1	26	broad.mit.edu	37	7	150557656	150557656	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:150557656G>A	ENST00000493429.1	+	6	2508	c.1924G>A	c.(1924-1926)Gac>Aac	p.D642N	AOC1_ENST00000416793.2_Missense_Mutation_p.D661N|AOC1_ENST00000467291.1_Missense_Mutation_p.D642N|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.D642N					amine oxidase, copper containing 1									p.D642N(1)									CCACCAGAACGACCCCTGGCA	0.612000													30	59					0	0	0.001786	0	0
DAXX	1616	broad.mit.edu	37	6	33288199	33288199	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:33288199G>A	ENST00000374542.5	-	4	1413	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	DAXX_ENST00000414083.2_Silent_p.S328S|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Silent_p.S403S	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	403	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CTGCAGAGTGGGAAGAGGTGC	0.547000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								24	49					0	0	0.004656	0	0
FBXO40	51725	broad.mit.edu	37	3	121341537	121341537	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:121341537G>A	ENST00000338040.4	+	3	1675	c.1261G>A	c.(1261-1263)Gga>Aga	p.G421R		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	421					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)		AAGCATTGATGGACTGTTCAT	0.512000													12	77					0	0	0.003163	0	0
NR1H2	7376	broad.mit.edu	37	19	50882384	50882384	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:50882384C>T	ENST00000253727.5	+	7	1108	c.873C>T	c.(871-873)ttC>ttT	p.F291F	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000599105.1_Intron|NR1H2_ENST00000411902.2_Silent_p.F194F|NR1H2_ENST00000593926.1_Silent_p.F291F|NR1H2_ENST00000598168.1_Silent_p.F261F	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	291	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TGCCTGGTTTCCTGCAGCTGG	0.592000													14	52					0	0	0.003163	0	0
MYH15	22989	broad.mit.edu	37	3	108219035	108219035	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:108219035C>T	ENST00000273353.3	-	5	542	c.486G>A	c.(484-486)ggG>ggA	p.G162G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	162	Myosin head-like.					myofibril|myosin filament	actin binding|ATP 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						ATCGCCTCTTCCCTTTGTAGG	0.468000													7	11					0	0	0.006214	0	0
LIPF	8513	broad.mit.edu	37	10	90433396	90433396	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:90433396C>T	ENST00000394375.3	+	8	864	c.751C>T	c.(751-753)Ctt>Ttt	p.L251F	LIPF_ENST00000238983.4_Missense_Mutation_p.L241F|LIPF_ENST00000355843.2_Missense_Mutation_p.L208F	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	241					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TGATCAATTTCTTGCTACTGA	0.368000													21	52					0	0	0.001523	0	0
FAT4	79633	broad.mit.edu	37	4	126336393	126336393	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:126336393C>T	ENST00000394329.3	+	5	6288	c.6275C>T	c.(6274-6276)cCt>cTt	p.P2092L	FAT4_ENST00000335110.5_Missense_Mutation_p.P390L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2092	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGCTGAACCCTTTGGGAAAC	0.418000													6	28					0	0	0.001984	0	0
FAM35A	54537	broad.mit.edu	37	10	88911479	88911479	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:88911479G>A	ENST00000298786.4	+	3	482	c.368G>A	c.(367-369)tGt>tAt	p.C123Y	FAM35A_ENST00000298784.1_Missense_Mutation_p.C123Y			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	123										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						ATGCAAATATGTGGATTTAAA	0.358000													13	25					0	0	0.001368	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649911	75649911	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:75649911C>T	ENST00000361470.2	+	1	1866	c.1588C>T	c.(1588-1590)Cct>Tct	p.P530S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	530	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CAACCAGTTTCCTGAGATACT	0.463000													21	23					0	0	0.001882	0	0
ANKRD26	22852	broad.mit.edu	37	10	27324073	27324073	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:27324073G>A	ENST00000376087.4	-	24	3471	c.3306C>T	c.(3304-3306)agC>agT	p.S1102S	ANKRD26_ENST00000376070.3_Silent_p.S659S|ANKRD26_ENST00000436985.2_Silent_p.S1118S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1101						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ACTGTGTTTGGCTTAGGTCCT	0.383000													13	57					0	0	0.002450	0	0
ZIM3	114026	broad.mit.edu	37	19	57647093	57647093	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:57647093G>A	ENST00000269834.1	-	5	997	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTTCTCCCCGAATGCTCTTC	0.443000													18	62					0	0	0.006122	0	0
PMPCA	23203	broad.mit.edu	37	9	139313549	139313549	+	Silent	SNP	C	C	T	rs148017285	byFrequency	TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:139313549C>T	ENST00000371717.3	+	11	1263	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Silent_p.T287T	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	418					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGGGCGGAACCGTGGACACGG	0.557000													24	27					0	0	0.003954	0	0
CNOT1	23019	broad.mit.edu	37	16	58576341	58576341	+	Silent	SNP	T	T	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:58576341T>C	ENST00000317147.5	-	32	4898	c.4566A>G	c.(4564-4566)agA>agG	p.R1522R	CNOT1_ENST00000569240.1_Silent_p.R1517R|CNOT1_ENST00000245138.4_Silent_p.R373R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1522					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGTTGCTAATCTCTTGTCCA	0.378000													30	41					0	0	0.007291	0	0
TRAV20	28663	broad.mit.edu	37	14	22509134	22509134	+	RNA	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:22509134G>A	ENST00000390448.3	+	0	141																											GAGAAGACCAGGTGACGCAGA	0.448000													4	16					0	0	0.000602	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55052306	55052306	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:55052306G>A	ENST00000474759.1	+	35	2997	c.2949G>A	c.(2947-2949)aaG>aaA	p.K983K	CACNA2D3_ENST00000490478.1_Silent_p.K889K|CACNA2D3_ENST00000415676.2_Silent_p.K983K|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Silent_p.K983K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	983						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GCACCATCAAGGAGACTACAG	0.493000													3	11					0	0	0.004672	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183320	167183320	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:167183320T>A	ENST00000476257.1	-	5	918	c.620A>T	c.(619-621)aAt>aTt	p.N207I	SERPINI2_ENST00000471111.1_Missense_Mutation_p.N207I|SERPINI2_ENST00000264677.4_Missense_Mutation_p.N207I|SERPINI2_ENST00000461846.1_Missense_Mutation_p.N207I			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	207					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AGTTGAACCATTTTTCTTAGT	0.368000													12	16					0	0	0.001855	0	0
TRAT1	50852	broad.mit.edu	37	3	108572518	108572518	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:108572518G>A	ENST00000295756.6	+	6	585	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	TRAT1_ENST00000426646.1_Missense_Mutation_p.G82R	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	119					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.G119W(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CAGCGTTAAGGGGAAGCGTAG	0.418000													9	20					0	0	0.006214	0	0
WDR25	79446	broad.mit.edu	37	14	100934432	100934432	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:100934432G>A	ENST00000335290.6	+	3	1123	c.897G>A	c.(895-897)cgG>cgA	p.R299R	WDR25_ENST00000554998.1_Silent_p.R299R|WDR25_ENST00000542471.2_Silent_p.R42R|WDR25_ENST00000402312.3_Silent_p.R299R	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	299										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GGGCCGCCCGGTGGGCTCCCT	0.627000													24	80					0	0	0.005443	0	0
RRP12	23223	broad.mit.edu	37	10	99126525	99126525	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr10:99126525C>T	ENST00000370992.4	-	27	3300	c.3189G>A	c.(3187-3189)gaG>gaA	p.E1063E	RRP12_ENST00000315563.6_Silent_p.E963E|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Silent_p.E1002E|RRP12_ENST00000536831.1_Silent_p.E781E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1063	Glu-rich.					integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGGCGGGctcctcctcctcct	0.662000													29	66					0	0	0.008361	0	0
SLC8A3	6547	broad.mit.edu	37	14	70517766	70517766	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:70517766G>A	ENST00000381269.2	-	6	2843	c.2090C>T	c.(2089-2091)tCc>tTc	p.S697F	SLC8A3_ENST00000528359.1_Missense_Mutation_p.S695F|SLC8A3_ENST00000216568.7_Missense_Mutation_p.S68F|SLC8A3_ENST00000394330.2_Missense_Mutation_p.S54F|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S694F|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S691F|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S695F|SLC8A3_ENST00000533541.1_Missense_Mutation_p.S54F	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	697					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTCCCTCCAGGAATGGGTCCC	0.522000													7	25					0	0	0.004482	0	0
SLC8A2	6543	broad.mit.edu	37	19	47941107	47941107	+	Splice_Site	SNP	T	T	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:47941107T>C	ENST00000236877.6	-	7	2404	c.2010_splice	c.e7+1	p.K670_splice	SLC8A2_ENST00000542837.1_Splice_Site_p.K426_splice|SLC8A2_ENST00000539381.1_Splice_Site_p.K133_splice|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	670					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GAAAATCACCTTAAAATCATA	0.572000													14	51					0	0	0.003163	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749811	79749811	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:79749811C>T	ENST00000305428.3	+	2	1397	c.1322C>T	c.(1321-1323)tCa>tTa	p.S441L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	441						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AAAGAGATCTCATCCCCTGTT	0.478000													6	22					0	0	0.001168	0	0
GABRE	2564	broad.mit.edu	37	X	151123232	151123232	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:151123232A>C	ENST00000370328.3	-	9	1515	c.1462T>G	c.(1462-1464)Ttc>Gtc	p.F488V	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	488					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GTCACTGGGAAAACAACTCTC	0.532000													6	28					0	0	0.001168	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092827	147092827	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:147092827G>A	ENST00000361727.3	+	10	2141	c.1625G>A	c.(1624-1626)gGa>gAa	p.G542E		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	542	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGAAGCCGGGAAGTTTCGCG	0.438000										HNSCC(39;0.1)			11	32					0	0	0.000978	0	0
CRYAA	1409	broad.mit.edu	37	21	44592263	44592263	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr21:44592263C>T	ENST00000291554.2	+	3	487	c.395C>T	c.(394-396)tCc>tTc	p.S132F	CRYAA_ENST00000398133.1_Missense_Mutation_p.S112F|CRYAA_ENST00000398132.1_Missense_Mutation_p.S95F|CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	132					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CTCTCTTGCTCCCTGTCTGCC	0.672000													11	27					0	0	0.000978	0	0
SCN8A	6334	broad.mit.edu	37	12	52159763	52159763	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:52159763C>T	ENST00000354534.5	+	16	3031	c.2853C>T	c.(2851-2853)gcC>gcT	p.A951A	SCN8A_ENST00000550891.1_Silent_p.A951A|SCN8A_ENST00000545061.1_Silent_p.A951A	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	951					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CAGGCCAGGCCATGTGCCTCA	0.448000													74	99					0	0	0.003610	0	0
TAF1A	9015	broad.mit.edu	37	1	222750981	222750981	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:222750981G>A	ENST00000350027.4	-	5	563	c.410C>T	c.(409-411)tCc>tTc	p.S137F	TAF1A_ENST00000352967.4_Missense_Mutation_p.S137F|TAF1A_ENST00000366890.1_Missense_Mutation_p.S23F|TAF1A_ENST00000543857.1_Missense_Mutation_p.S137F|TAF1A_ENST00000391882.1_Missense_Mutation_p.S23F|TAF1A_ENST00000465263.1_5'UTR	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	137					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ATGTTGTAAGGAGATCTGCAA	0.378000													118	245					0	0	0.003610	0	0
SLC8A2	6543	broad.mit.edu	37	19	47941108	47941108	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:47941108T>C	ENST00000236877.6	-	7	2403	c.2008A>G	c.(2008-2010)Aag>Gag	p.K670E	SLC8A2_ENST00000542837.1_Missense_Mutation_p.K426E|SLC8A2_ENST00000539381.1_Missense_Mutation_p.K133E|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	670					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AAAATCACCTTAAAATCATAT	0.567000													15	52					0	0	0.004007	0	0
MROH5	389690	broad.mit.edu	37	8	142458032	142458032	+	RNA	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:142458032C>T	ENST00000430863.1	-	0	2874					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		ACGGCCGCCTCCTGGGCCTGC	0.647000													5	13					0	0	0.001168	0	0
MALAT1	378938	broad.mit.edu	37	11	65272116	65272116	+	RNA	SNP	T	T	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:65272116T>A	ENST00000534336.1	+	0	6884					NR_002819.2																						CTGAAGCCTTTAGTCTTTTCC	0.378000													12	13					0	0	0.001368	0	0
MYLK2	85366	broad.mit.edu	37	20	30408346	30408346	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr20:30408346C>T	ENST00000375994.2	+	2	743	c.470C>T	c.(469-471)tCc>tTc	p.S157F	MYLK2_ENST00000375985.4_Missense_Mutation_p.S157F			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	157					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCCATCATCTCCAGGTGAATA	0.582000													5	24					0	0	0.001168	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20212370	20212370	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:20212370C>T	ENST00000379565.3	-	6	630	c.423G>A	c.(421-423)ggG>ggA	p.G141G	RPS6KA3_ENST00000379548.4_Silent_p.G112G|RPS6KA3_ENST00000544447.1_Silent_p.G113G|RPS6KA3_ENST00000540702.1_Silent_p.G113G	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	141	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						GATACAACTTCCCTTCAGTTT	0.279000													5	14					0	0	0.001168	0	0
LRRC37B	114659	broad.mit.edu	37	17	30376191	30376191	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:30376191C>T	ENST00000327564.7	+	10	2596	c.2535C>T	c.(2533-2535)ttC>ttT	p.F845F	LRRC37B_ENST00000584368.1_Silent_p.F779F|LRRC37B_ENST00000543378.2_Silent_p.F736F|LRRC37B_ENST00000341671.7_Silent_p.F818F|LRRC37B_ENST00000394713.3_Silent_p.F767F			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	818						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TGAGAAAGTTCATGTCTCATG	0.498000													24	22					0	0	0.006320	0	0
SOWAHB	345079	broad.mit.edu	37	4	77816807	77816807	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr4:77816807G>A	ENST00000334306.2	-	1	2195	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	732																	GATAGACAGGGAAAATGGGCT	0.502000													38	128					0	0	0.006230	0	0
KLK6	5653	broad.mit.edu	37	19	51462556	51462556	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:51462556G>A	ENST00000376851.3	-	6	1038	c.599C>T	c.(598-600)cCg>cTg	p.P200L	CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.P200L|KLK6_ENST00000456750.2_Missense_Mutation_p.P93L|KLK6_ENST00000391808.1_Missense_Mutation_p.P93L|KLK6_ENST00000594641.1_Missense_Mutation_p.P200L|KLK6_ENST00000376853.4_Missense_Mutation_p.R72C	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	200	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	p.P200L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ACATACCAGCGGACCCCCAGA	0.527000													9	22					0	0	0.006214	0	0
SSX5	6758	broad.mit.edu	37	X	48053621	48053621	+	Missense_Mutation	SNP	C	C	T	rs139280367		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:48053621C>T	ENST00000311798.1	-	5	399	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	SSX5_ENST00000376923.1_Missense_Mutation_p.R75Q|SSX5_ENST00000347757.1_Missense_Mutation_p.R75Q	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.R116L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GTCTGCGACCCGTTTATTACG	0.488000													36	75					0	0	0.003214	0	0
SOX10	6663	broad.mit.edu	37	22	38369508	38369508	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr22:38369508C>T	ENST00000396884.2	-	4	1677	c.1395G>A	c.(1393-1395)cgG>cgA	p.R465R	POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Silent_p.R465R	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	465						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCCTTTAGGGCCGGGACAGTG	0.692000													4	0					0	0	0.000248	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905895	164905895	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:164905895G>A	ENST00000475390.1	-	2	3167	c.2724C>T	c.(2722-2724)ccC>ccT	p.P908P	SLITRK3_ENST00000241274.3_Silent_p.P908P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	908						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTTTAATTTGGGCACTGTTC	0.547000										HNSCC(40;0.11)			27	24					0	0	0.004656	0	0
PCLO	27445	broad.mit.edu	37	7	82581797	82581797	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:82581797G>A	ENST00000423517.2	-	5	8809	c.8472C>T	c.(8470-8472)ctC>ctT	p.L2824L	PCLO_ENST00000333891.8_Silent_p.L2824L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2755					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						TTGTAAGTTGGAGTGGTGTTG	0.468000													11	14					0	0	0.001368	0	0
TRAF2	7186	broad.mit.edu	37	9	139820223	139820223	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:139820223C>T	ENST00000359662.3	+	11	1577	c.1532C>T	c.(1531-1533)cCa>cTa	p.P511L	TRAF2_ENST00000536468.1_Missense_Mutation_p.P459L|TRAF2_ENST00000247668.2_Missense_Mutation_p.P459L			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	459					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TTTCAGAGGCCAGTCAACGAC	0.557000													19	17					0	0	0.006122	0	0
MARCH10	162333	broad.mit.edu	37	17	60821840	60821840	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:60821840C>T	ENST00000544856.2	-	6	807	c.429G>A	c.(427-429)agG>agA	p.R143R	MARCH10_ENST00000311269.5_Silent_p.R144R|MARCH10_ENST00000583600.1_Silent_p.R182R|MARCH10_ENST00000456609.2_Silent_p.R144R			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	144							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTGTAAATCTCCTCAGGTTTG	0.468000													9	53					0	0	0.008291	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090984	91090984	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:91090984C>T	ENST00000373094.1	+	1	1326	c.481C>T	c.(481-483)Cca>Tca	p.P161S	PCDH11X_ENST00000406881.1_Missense_Mutation_p.P161S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P161S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P161S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P161S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P161S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P161S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P161S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P161S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	161	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATATACTCTCCCAGCGGCTGT	0.353000													8	23					0	0	0.003080	0	0
CCDC125	202243	broad.mit.edu	37	5	68590651	68590651	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:68590651G>A	ENST00000396496.2	-	9	1000	c.893C>T	c.(892-894)aCt>aTt	p.T298I	CCDC125_ENST00000511257.1_Missense_Mutation_p.T173I|CCDC125_ENST00000383374.2_Intron|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.T298I			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	298						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CAGTTTCCGAGTGGATGCTGC	0.453000													40	117					0	0	0.003610	0	0
DSG1	1828	broad.mit.edu	37	18	28919979	28919979	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr18:28919979G>A	ENST00000257192.4	+	11	1890	c.1678G>A	c.(1678-1680)Gtc>Atc	p.V560I		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	560					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGGATTCTTGGTCTTAGGATG	0.393000													6	19					0	0	0.001984	0	0
HHAT	55733	broad.mit.edu	37	1	210577938	210577938	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:210577938C>T	ENST00000367010.1	+	6	826	c.599C>T	c.(598-600)tCc>tTc	p.S200F	HHAT_ENST00000413764.2_Missense_Mutation_p.S200F|HHAT_ENST00000545781.1_Missense_Mutation_p.S137F|HHAT_ENST00000545154.1_Missense_Mutation_p.S201F|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000308852.6_Missense_Mutation_p.S155F|HHAT_ENST00000537898.1_Missense_Mutation_p.S135F|HHAT_ENST00000261458.3_Missense_Mutation_p.S200F|HHAT_ENST00000391905.3_Missense_Mutation_p.S200F	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	200					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		ACCTCCTACTCCTTTCCCTGG	0.557000													6	49					0	0	0.001984	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745253	140745253	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:140745253C>T	ENST00000518069.1	+	1	1356	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCAATTTCCCTCAAGCCT	0.522000													40	72					0	0	0.002852	0	0
PIGR	5284	broad.mit.edu	37	1	207112655	207112655	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:207112655G>A	ENST00000356495.4	-	3	380	c.197C>T	c.(196-198)aCc>aTc	p.T66I		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	66	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGAGATGAGGGTTATGCAGCC	0.577000													19	42					0	0	0.002299	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136307632	136307632	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:136307632C>T	ENST00000371929.3	+	17	2525	c.2081C>T	c.(2080-2082)cCc>cTc	p.P694L	ADAMTS13_ENST00000355699.2_Missense_Mutation_p.P694L|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.P663L|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000536611.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	694	TSP type-1 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTGCGTGGGCCCTGCTCGGTG	0.667000													30	31					0	0	0.003271	0	0
PARP3	10039	broad.mit.edu	37	3	51981903	51981903	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:51981903C>T	ENST00000417220.2	+	11	1912	c.1424C>T	c.(1423-1425)aCc>aTc	p.T475I	PARP3_ENST00000398755.3_Missense_Mutation_p.T482I|PARP3_ENST00000431474.1_Missense_Mutation_p.T475I|PARP3_ENST00000486510.1_3'UTR			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	475	PARP catalytic.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGAGGCCACACCGAGCCTGGT	0.612000													15	72					0	0	0.004990	0	0
NLRX1	79671	broad.mit.edu	37	11	119050970	119050970	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr11:119050970C>T	ENST00000409109.1	+	7	2827	c.2240C>T	c.(2239-2241)cCt>cTt	p.P747L	NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409991.1_Missense_Mutation_p.P747L|NLRX1_ENST00000409265.4_Missense_Mutation_p.P747L|NLRX1_ENST00000292199.2_Missense_Mutation_p.P747L|NLRX1_ENST00000525863.1_Missense_Mutation_p.P747L			Q86UT6	NLRX1_HUMAN	NLR family member X1	747	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ACACTCCTGCCTGTCTTCCTG	0.597000													11	13					0	0	0.000978	0	0
FAM57B	83723	broad.mit.edu	37	16	30037049	30037049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:30037049G>A	ENST00000380495.4	-	4	1269	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	FAM57B_ENST00000279389.4_Nonsense_Mutation_p.Q130*|FAM57B_ENST00000564806.1_Nonsense_Mutation_p.Q130*	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	180	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TCACTCACCTGGATGAGGATC	0.592000													39	80					0	0	0.002852	0	0
CDK13	8621	broad.mit.edu	37	7	40134017	40134017	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr7:40134017G>A	ENST00000181839.4	+	14	4582	c.3977G>A	c.(3976-3978)gGa>gAa	p.G1326E	CDK13_ENST00000340829.5_Missense_Mutation_p.G1266E	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1326					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TATCAAGCAGGAGACACTTAC	0.493000													18	46					0	0	0.006122	0	0
AKAP4	8852	broad.mit.edu	37	X	49958661	49958661	+	Missense_Mutation	SNP	C	C	T	rs147442985		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:49958661C>T	ENST00000376056.2	-	5	826	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.E235K|AKAP4_ENST00000376064.3_Missense_Mutation_p.E226K|AKAP4_ENST00000376058.2_Intron			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	235	PKA-RI and PKA-RII subunit binding domain (By similarity).				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.E235K(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCCTTGATTTCCTTATGGGCC	0.458000													17	36					0	0	0.006122	0	0
CLEC6A	93978	broad.mit.edu	37	12	8629986	8629986	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:8629986G>A	ENST00000382073.3	+	6	742	c.556G>A	c.(556-558)Gga>Aga	p.G186R		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	186	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GAAACCTACAGGATGGGGCTG	0.383000													29	13					0	0	0.005443	0	0
RP1	6101	broad.mit.edu	37	8	55537893	55537893	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:55537893C>T	ENST00000220676.1	+	4	1599	c.1451C>T	c.(1450-1452)tCa>tTa	p.S484L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	484					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)			GGACAGTTTTCATATAGTGAA	0.373000													5	27					0	0	0.000602	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481400	140481400	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:140481400C>T	ENST00000231130.2	+	1	1167	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		389	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAACAATCTCCCCTTCTTCC	0.463000													10	26					0	0	0.006214	0	0
VAV1	7409	broad.mit.edu	37	19	6821821	6821821	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:6821821G>A	ENST00000304076.2	+	4	494	c.400G>A	c.(400-402)Gag>Aag	p.E134K	VAV1_ENST00000599806.1_Missense_Mutation_p.E79K|VAV1_ENST00000539284.1_Missense_Mutation_p.E69K|VAV1_ENST00000596764.1_Missense_Mutation_p.E134K|VAV1_ENST00000602142.1_Missense_Mutation_p.E134K	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	134					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CACCGAGGAGGAGAGTGTAGG	0.657000													10	48					0	0	0.001368	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432591	140432591	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:140432591G>A	ENST00000306549.3	+	1	1613	c.1536G>A	c.(1534-1536)ggG>ggA	p.G512G		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		512	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGCAATGGGAAGCTCTACG	0.428000													19	22					0	0	0.008871	0	0
SUCLG2	8801	broad.mit.edu	37	3	67559257	67559257	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr3:67559257G>A	ENST00000307227.5	-	7	758	c.731C>T	c.(730-732)cCc>cTc	p.P244L	SUCLG2_ENST00000492795.1_Missense_Mutation_p.P244L|SUCLG2_ENST00000493112.1_Missense_Mutation_p.P244L	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	244	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	TTCACCAAAGGGATTCACTTC	0.308000													6	14					0	0	0.001984	0	0
COL4A4	1286	broad.mit.edu	37	2	227958912	227958912	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr2:227958912C>T	ENST00000396625.3	-	20	1505	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G433E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	433	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCTGGTTTTCCTGGAGCAGA	0.552000													10	14					0	0	0.008291	0	0
CCDC27	148870	broad.mit.edu	37	1	3669219	3669219	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:3669219G>A	ENST00000294600.2	+	1	258	c.174G>A	c.(172-174)tcG>tcA	p.S58S		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	58										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGCACAGTTCGATGTCCAGCT	0.602000													10	53					0	0	0.006214	0	0
PPP2R4	5524	broad.mit.edu	37	9	131909680	131909680	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr9:131909680C>T	ENST00000337738.1	+	11	1281	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	PPP2R4_ENST00000347048.4_Silent_p.F84F|PPP2R4_ENST00000419582.1_Silent_p.F41F|PPP2R4_ENST00000434095.1_Silent_p.F41F|PPP2R4_ENST00000355007.3_Silent_p.F261F|PPP2R4_ENST00000432651.1_Silent_p.F41F|PPP2R4_ENST00000414510.1_Silent_p.F41F|PPP2R4_ENST00000423100.1_Silent_p.F41F|PPP2R4_ENST00000358994.4_Silent_p.F303F|PPP2R4_ENST00000393370.2_Silent_p.F303F|PPP2R4_ENST00000357197.4_Silent_p.F274F|PPP2R4_ENST00000435132.1_Silent_p.F41F|PPP2R4_ENST00000348141.5_Silent_p.F309F	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	338					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		TGGAGAAGTTCCCTGTGATCC	0.632000													10	23					0	0	0.000978	0	0
FBN3	84467	broad.mit.edu	37	19	8194143	8194143	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:8194143G>A	ENST00000600128.1	-	17	2565	c.2151C>T	c.(2149-2151)gcC>gcT	p.A717A	FBN3_ENST00000601739.1_Silent_p.A717A|FBN3_ENST00000270509.2_Silent_p.A717A			Q75N90	FBN3_HUMAN	fibrillin 3	717	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTTGCCTGAGGCACCTGCCT	0.637000													7	42					0	0	0.003080	0	0
SPG7	6687	broad.mit.edu	37	16	89614441	89614441	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:89614441C>T	ENST00000268704.2	+	12	1598	c.1583C>T	c.(1582-1584)gCt>gTt	p.A528V		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	528					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGCAATGAGGCTGCGCTGCAC	0.637000													36	75					0	0	0.002222	0	0
OR6F1	343169	broad.mit.edu	37	1	247875253	247875253	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:247875253C>T	ENST00000302084.2	-	1	852	c.805G>A	c.(805-807)Gat>Aat	p.D269N	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTGATCAGATCCAAGGCATCT	0.488000													15	33					0	0	0.002450	0	0
CARD6	84674	broad.mit.edu	37	5	40854355	40854355	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:40854355C>T	ENST00000254691.5	+	3	3120	c.2921C>T	c.(2920-2922)tCc>tTc	p.S974F	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	974	Pro-rich.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAGACAAAATCCTGTCAGTCC	0.522000													20	137					0	0	0.001523	0	0
DAXX	1616	broad.mit.edu	37	6	33288198	33288198	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:33288198G>A	ENST00000374542.5	-	4	1414	c.1210C>T	c.(1210-1212)Cac>Tac	p.H404Y	DAXX_ENST00000414083.2_Missense_Mutation_p.H329Y|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Missense_Mutation_p.H404Y	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	404	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TCTGCAGAGTGGGAAGAGGTG	0.547000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								24	49					0	0	0.004656	0	0
VPS13B	157680	broad.mit.edu	37	8	100789096	100789096	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:100789096C>T	ENST00000358544.2	+	41	7527	c.7416C>T	c.(7414-7416)acC>acT	p.T2472T	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.T2447T	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2472					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTGCTTTACCCCATGGTTTG	0.488000													7	26					0	0	0.001984	0	0
MMP28	79148	broad.mit.edu	37	17	34105972	34105972	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr17:34105972G>C	ENST00000250144.8	-	3	628	c.299C>G	c.(298-300)gCg>gGg	p.A100G		NM_001032278.1	NP_001027449.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 28	100					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.A100V(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGCCCAGGCCGCATAACTGTT	0.567000													8	45					0	0	0.004482	0	0
SLC27A2	11001	broad.mit.edu	37	15	50518184	50518184	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:50518184G>A	ENST00000267842.5	+	6	1399		c.e6-1		SLC27A2_ENST00000380902.4_Splice_Site|SLC27A2_ENST00000544960.1_Splice_Site	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2						bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AATCTTGCTAGAAAATCATAA	0.318000													9	12					0	0	0.004482	0	0
C15orf27	123591	broad.mit.edu	37	15	76494550	76494550	+	Silent	SNP	G	G	A	rs138438508		TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr15:76494550G>A	ENST00000388942.3	+	10	1242	c.966G>A	c.(964-966)acG>acA	p.T322T		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	322						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TAGAAGCCACGATGAAGGACG	0.532000													26	36					0	0	0.004656	0	0
VIPAS39	63894	broad.mit.edu	37	14	77901669	77901669	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr14:77901669G>A	ENST00000553888.1	-	14	1490	c.980C>T	c.(979-981)tCc>tTc	p.S327F	VIPAS39_ENST00000343765.2_Missense_Mutation_p.S327F|VIPAS39_ENST00000557658.1_Missense_Mutation_p.S327F|VIPAS39_ENST00000556412.1_Missense_Mutation_p.S353F|VIPAS39_ENST00000448935.2_Missense_Mutation_p.S278F|VIPAS39_ENST00000327028.4_Missense_Mutation_p.S314F	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		GTTGAGGATGGAGGCTTTGCG	0.463000													9	52					0	0	0.004482	0	0
SLC2A11	66035	broad.mit.edu	37	22	24217412	24217412	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr22:24217412C>T	ENST00000345044.6	+	4	658	c.390C>T	c.(388-390)ctC>ctT	p.L130L	AP000350.10_ENST00000433835.3_Silent_p.L95L|SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000405847.1_Silent_p.L130L|SLC2A11_ENST00000398356.2_Silent_p.L137L|SLC2A11_ENST00000316185.8_Silent_p.L133L			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	130						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GAAGACTGCTCGTGGGAGTCA	0.448000													18	34					0	0	0.003330	0	0
MEP1A	4224	broad.mit.edu	37	6	46800981	46800981	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr6:46800981C>T	ENST00000230588.4	+	11	1324	c.1315C>T	c.(1315-1317)Cgg>Tgg	p.R439W		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	439	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CTGGACAGTCCGGAATTTCTC	0.512000													23	19					0	0	0.004656	0	0
ADAM33	80332	broad.mit.edu	37	20	3655171	3655171	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr20:3655171G>A	ENST00000356518.2	-	6	821	c.580C>T	c.(580-582)Cct>Tct	p.P194S	ADAM33_ENST00000350009.2_Missense_Mutation_p.P194S|ADAM33_ENST00000379861.4_Missense_Mutation_p.P194S	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	194					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGACCACCAGGAAGGCTGGTC	0.572000													17	59					0	0	0.008871	0	0
STAB2	55576	broad.mit.edu	37	12	104049234	104049234	+	Splice_Site	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:104049234G>A	ENST00000388887.2	+	15	1813	c.1608_splice	c.e15-1	p.E537_splice	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	537	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAAATGCAGGAAACCAATTT	0.378000													17	31					0	0	0.004007	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221776	118221776	+	Silent	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chrX:118221776G>A	ENST00000402510.2	-	11	3416	c.3417C>T	c.(3415-3417)ttC>ttT	p.F1139F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1139										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CAGCCCGCTCGAAATTTGAGG	0.473000													22	37					0	0	0.001523	0	0
TMC2	117532	broad.mit.edu	37	20	2542553	2542553	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr20:2542553G>A	ENST00000358864.1	+	4	466	c.451G>A	c.(451-453)Gag>Aag	p.E151K		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	151	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTGTCCGAGGAGGAACTGGC	0.607000													28	56					0	0	0.002096	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724647	140724647	+	Silent	SNP	C	C	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr5:140724647C>T	ENST00000253812.6	+	1	1047	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATTACAATCACGTCTCTCA	0.463000													12	53					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9074139	9074139	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr19:9074139G>A	ENST00000397910.4	-	3	13510	c.13307C>T	c.(13306-13308)cCc>cTc	p.P4436L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4438	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						CACATCCTTGGGACCTTTGCT	0.498000													16	41					0	0	0.003163	0	0
CLK2	1196	broad.mit.edu	37	1	155236673	155236674	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr1:155236673_155236674insC	ENST00000368361.4	-	7	999_1000	c.684_685insG	c.(682-687)catgttfs	p.HV228fs	CLK2_ENST00000355560.4_Frame_Shift_Ins_p.HV226fs|CLK2_ENST00000536801.1_Frame_Shift_Ins_p.HV228fs|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Frame_Shift_Ins_p.HV227fs			P49760	CLK2_HUMAN	CDC-like kinase 2	228	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGTCAAACATCTGGACACAGA	0.505								Other conserved DNA damage response genes					11	25	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110467060	110467061	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr8:110467060_110467061insA	ENST00000378402.5	+	45	6957_6958	c.6853_6854insA	c.(6853-6855)gggfs	p.G2285fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2285	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGCTGTGCGGGAGGGAATCCTG	0.515										HNSCC(38;0.096)			4	4	---	---	---	---					
KRT19P2	160313	broad.mit.edu	37	12	95228730	95228730	+	RNA	DEL	A	A	-			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr12:95228730delA	ENST00000405395.2	+	0	501					NR_036685.1																						TGGCAGAAACAGAGGCATGCT	0.572													2	4	---	---	---	---					
CMTM4	146223	broad.mit.edu	37	16	66656033	66656034	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GN-A26A-06A-11D-A19A-08	TCGA-GN-A26A-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22edd867-dcd6-42b5-92bb-025ceb84b106	268a11d4-51a7-491c-9060-7dc559dcdb9e	g.chr16:66656033_66656034insT	ENST00000330687.4	-	4	735_736	c.554_555insA	c.(553-555)agafs	p.R185fs	CMTM4_ENST00000394106.2_Frame_Shift_Ins_p.R185fs|CMTM4_ENST00000563952.1_Frame_Shift_Ins_p.R156fs	NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	185					chemotaxis	extracellular space|integral to membrane	cytokine activity			cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		GGATGTAGTCATTGGTGCTCTG	0.579													8	11	---	---	---	---					
