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
LRRTM1	347730	broad.mit.edu	37	2	80529463	80529463	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:80529463C>T	ENST00000295057.3	-	2	2138	c.1482G>A	c.(1480-1482)ccG>ccA	p.P494P	LRRTM1_ENST00000409148.1_Silent_p.P494P|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	494						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.P494P(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CAATGTGGTTCGGTTTGTAAT	0.547000										HNSCC(69;0.2)			19	48					0	0	1	0	0
ENTHD2	146705	broad.mit.edu	37	17	79202912	79202912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:79202912C>T	ENST00000374769.2	-	13	1619	c.1142G>A	c.(1141-1143)tGg>tAg	p.W381*	ENTHD2_ENST00000300714.3_Nonsense_Mutation_p.W465*|AC027601.1_ENST00000575922.1_RNA					ENTH domain containing 2																		GTCGCGGCTCCACGCACAGCT	0.687000													5	33					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86887260	86887260	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:86887260A>C	ENST00000373119.4	+	7	1520	c.1375A>C	c.(1375-1377)Att>Ctt	p.I459L	KLHL4_ENST00000373114.4_Missense_Mutation_p.I459L	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	459						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTGGCTACATATTGGCACCAT	0.378000													25	43					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25474168	25474168	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:25474168C>T	ENST00000453082.2	+	0	1370				SNORD115-32_ENST00000364079.1_RNA	NR_003343.1																						ACTTAAAAATCATGTTCAATA	0.488000													104	199					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143787204	143787204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:143787204G>A	ENST00000264170.4	+	11	1169	c.911G>A	c.(910-912)gGa>gAa	p.G304E	KYNU_ENST00000409512.1_Missense_Mutation_p.G304E	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	304					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AGATTAGTGGGATGGTTTGGC	0.363000													10	50					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77924270	77924270	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:77924270G>A	ENST00000310924.2	-	6	1312	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	TBC1D16_ENST00000576768.1_Silent_p.S38S|TBC1D16_ENST00000340848.7_Silent_p.S37S|TBC1D16_ENST00000570373.1_Silent_p.S38S|TBC1D16_ENST00000572862.1_Silent_p.S37S	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	399						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TGAGCCAGGCGGAGACGCCGA	0.667000													9	18					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23326295	23326295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:23326295G>A	ENST00000298032.5	+	19	2590	c.2506G>A	c.(2506-2508)Gga>Aga	p.G836R	ARMC3_ENST00000376528.4_Missense_Mutation_p.G573R|ARMC3_ENST00000409983.3_Missense_Mutation_p.G829R	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	836							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCTCGGAAGGGAGTGATTGG	0.527000													37	53					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35763116	35763116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:35763116G>A	ENST00000187397.4	+	14	1471	c.1015G>A	c.(1015-1017)Ggg>Agg	p.G339R	ARPP21_ENST00000458225.1_Missense_Mutation_p.G305R|ARPP21_ENST00000444190.1_Missense_Mutation_p.G285R|ARPP21_ENST00000337271.5_Missense_Mutation_p.G285R|ARPP21_ENST00000417925.1_Missense_Mutation_p.G305R	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	339	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGATGGCTCAGGGAGAACATC	0.537000													7	30					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32172159	32172159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:32172159G>A	ENST00000375023.3	-	19	3011	c.2873C>T	c.(2872-2874)cCa>cTa	p.P958L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	958	EGF-like 24.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATCGTAGCCTGGGGCACACTG	0.542000													56	37					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35538295	35538295	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:35538295G>A	ENST00000353139.5	-	40	5260	c.4779C>T	c.(4777-4779)atC>atT	p.I1593I	ACACA_ENST00000335166.5_Silent_p.I1478I|ACACA_ENST00000360679.3_Silent_p.I1498I|ACACA_ENST00000394406.2_Silent_p.I1556I	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1556					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTGAAACATGATCTGCAGGA	0.408000													18	67					0	0	1	0	0
SMS	6611	broad.mit.edu	37	X	21996131	21996131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:21996131G>T	ENST00000404933.2	+	6	811	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	SMS_ENST00000379404.1_Nonsense_Mutation_p.E134*|SMS_ENST00000415881.2_Nonsense_Mutation_p.E91*	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	187					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	CAGTGGCAAAGAAGATTACAC	0.448000													26	176					4.3181e-19	4.43953e-19	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40364229	40364229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:40364229C>T	ENST00000221347.6	-	31	14420	c.14413G>A	c.(14413-14415)Gag>Aag	p.E4805K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4805						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TAGAAGACCTCGCCCAGTGGG	0.657000													13	54					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41962150	41962150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:41962150C>T	ENST00000219905.7	+	2	1239	c.1058C>T	c.(1057-1059)tCt>tTt	p.S353F	MGA_ENST00000568630.1_Intron|MGA_ENST00000545763.1_Missense_Mutation_p.S353F|MGA_ENST00000389936.4_Missense_Mutation_p.S353F|MGA_ENST00000570161.1_Missense_Mutation_p.S353F|MGA_ENST00000566586.1_Missense_Mutation_p.S353F	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	353						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CAAGAGATTTCTGAATGGTAA	0.373000													6	18					0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132888183	132888183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:132888183G>A	ENST00000370818.3	-	3	803	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	GPC3_ENST00000394299.2_Missense_Mutation_p.R120C|GPC3_ENST00000543339.1_Missense_Mutation_p.R66C	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	120						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TTGGCATGGCGAACAACAATT	0.363000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				31	125					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488226	24488226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:24488226C>T	ENST00000264463.4	-	12	2420	c.1913G>A	c.(1912-1914)cGa>cAa	p.R638Q	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	638					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R638L(1)|p.R638Q(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCTTTTTTTCGCTGTCTTTT	0.398000										HNSCC(23;0.051)			11	14					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50249810	50249810	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:50249810C>T	ENST00000246801.3	-	6	991	c.909G>A	c.(907-909)tgG>tgA	p.W303*	TSKS_ENST00000358830.3_Nonsense_Mutation_p.W103*	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	303							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCCCCATTCCCCAGCCTGCGG	0.721000													27	46					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74354372	74354372	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:74354372T>A	ENST00000226355.3	+	7	832	c.739T>A	c.(739-741)Ttc>Atc	p.F247I		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	247	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGTCAAAAATTCCCCAAGAT	0.363000													22	45					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101706790	101706790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:101706790G>A	ENST00000409318.1	-	2	294	c.164C>T	c.(163-165)tCc>tTc	p.S55F	TBC1D8_ENST00000376840.4_Missense_Mutation_p.S55F	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	55					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	p.S55F(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCGTGCATTGGAATCCAACAC	0.522000													29	70					0	0	1	0	0
NDUFAF5	79133	broad.mit.edu	37	20	13779129	13779129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:13779129C>T	ENST00000378106.5	+	6	621	c.502C>T	c.(502-504)Cct>Tct	p.P168S	NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Missense_Mutation_p.P140S	NM_024120.4	NP_077025.2	Q5TEU4	CT007_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	168					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity										GAATGACCTTCCTAGAGCACT	0.299000													19	65					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190891	49190891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:49190891C>T	ENST00000406846.2	-	10	1188	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	FSHR_ENST00000304421.4_Missense_Mutation_p.E331K|FSHR_ENST00000541117.1_Missense_Mutation_p.E93K|FSHR_ENST00000346173.3_Missense_Mutation_p.E295K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	357					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ATGATATCTTCACATGGGTTG	0.458000									Gonadal Dysgenesis, 46 XX				45	81					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163317606	163317606	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:163317606G>A	ENST00000271452.3	+	12	1281	c.1002G>A	c.(1000-1002)ttG>ttA	p.L334L	NUF2_ENST00000524800.1_Silent_p.L287L|NUF2_ENST00000367900.3_Silent_p.L334L	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	334	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TGAAGAAATTGAAGACTGAAG	0.333000													18	26					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24886023	24886023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:24886023C>T	ENST00000382554.3	+	9	5386	c.5068C>T	c.(5068-5070)Ctt>Ttt	p.L1690F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1690	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCGGCACGTCCTTGTGAGCTG	0.657000													8	6					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632552	32632552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:32632552C>T	ENST00000242310.4	-	1	3115	c.3026G>A	c.(3025-3027)gGa>gAa	p.G1009E		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1009					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGCATCTGTTCCTGTCACTGT	0.458000													101	103					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84025037	84025037	+	Silent	SNP	A	A	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:84025037A>T	ENST00000369705.3	-	6	812	c.696T>A	c.(694-696)gtT>gtA	p.V232V	ME1_ENST00000543031.1_Silent_p.V157V|ME1_ENST00000541327.1_Silent_p.V66V	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	232					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	ACTTGGAAGAAACTGCCTCCA	0.308000													37	33					0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800156	74800156	+	Silent	SNP	G	G	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:74800156G>C	ENST00000305159.3	-	1	643	c.603C>G	c.(601-603)acC>acG	p.T201T		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGCCCATGAGGGTCTGGGGGG	0.567000													9	19					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79699004	79699004	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:79699004C>T	ENST00000538312.1	+	5	1300	c.966C>T	c.(964-966)ctC>ctT	p.L322L	FAM46D_ENST00000308293.5_Silent_p.L322L	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	322										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GACAGATTCTCCACCTGATCA	0.403000													39	48					0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48880471	48880471	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:48880471G>A	ENST00000314014.2	+	4	228	c.96_splice	c.e4-1	p.E33_splice	C12orf54_ENST00000548364.1_Splice_Site_p.E33_splice|RP11-722P11.4_ENST00000551847.1_RNA	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	33										endometrium(1)|large_intestine(4)	5						ATTTCTACAGGAAAAACAGGT	0.438000													8	40					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													4	129					0	0	1	0	0
CCK	885	broad.mit.edu	37	3	42299709	42299709	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:42299709T>A	ENST00000396169.2	-	5	1134	c.229A>T	c.(229-231)Atg>Ttg	p.M77L	CCK_ENST00000334681.5_Missense_Mutation_p.M77L|CCK_ENST00000434608.1_Missense_Mutation_p.M77L	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	77					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		ACGATGGACATTCGTCCAGAA	0.512000													12	52					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985474	140985474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:140985474C>T	ENST00000544766.1	+	5	1563	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S	MAGEC3_ENST00000298296.1_Silent_p.I596I|MAGEC3_ENST00000409007.1_Missense_Mutation_p.P346S|MAGEC3_ENST00000536088.1_Missense_Mutation_p.P346S|MAGEC3_ENST00000443323.2_Missense_Mutation_p.P266S	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTATCATCCCTAGTGCCT	0.473000													25	122					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940619	113940619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:113940619C>T	ENST00000245796.6	+	2	781	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Missense_Mutation_p.P196S	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	196					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTGGACCTCCCCGGGGACAC	0.642000													24	42					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31680452	31680452	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:31680452C>T	ENST00000375483.3	+	9	1332	c.1332C>T	c.(1330-1332)atC>atT	p.I444I		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	444						cytoplasm|extracellular region	lipid binding										ACCTGGATATCACCAATGGCA	0.577000													55	104					0	0	1	0	0
EPHX3	79852	broad.mit.edu	37	19	15338473	15338473	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:15338473C>T	ENST00000221730.3	-	7	1078	c.857_splice	c.e7-1	p.R286_splice	EPHX3_ENST00000602233.1_Splice_Site_p.R286_splice|EPHX3_ENST00000435261.1_Splice_Site_p.R286_splice	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	286						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GGGGGAAGTTCCTGTGGCcag	0.602000													17	36					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532707	92532707	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:92532707C>T	ENST00000298047.6	+	9	6545	c.6528C>T	c.(6526-6528)atC>atT	p.I2176I	FAT3_ENST00000409404.2_Silent_p.I2176I|FAT3_ENST00000525166.1_Silent_p.I2026I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2176	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCTTCCCATCACTATTGTCA	0.428000										TCGA Ovarian(4;0.039)			17	20					0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38229491	38229491	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:38229491C>A	ENST00000339503.4	-	8	2227	c.1726G>T	c.(1726-1728)Ggt>Tgt	p.G576C	ZNF573_ENST00000536220.1_Missense_Mutation_p.G546C|ZNF573_ENST00000357309.3_Missense_Mutation_p.G546C|ZNF573_ENST00000392138.1_Missense_Mutation_p.G547C|ZNF573_ENST00000590414.2_Missense_Mutation_p.G634C	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GGTTTCTCACCAGTATGAATT	0.403000													23	87					1.66031e-10	1.69555e-10	1	1	0
ADCY5	111	broad.mit.edu	37	3	123049764	123049764	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:123049764T>C	ENST00000462833.1	-	5	2830	c.1618A>G	c.(1618-1620)Atg>Gtg	p.M540V	ADCY5_ENST00000309879.5_Missense_Mutation_p.M190V|ADCY5_ENST00000491190.1_Missense_Mutation_p.M173V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	540	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCCATGCCCATCTCCACACAG	0.582000													15	64					0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110726051	110726051	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:110726051G>A	ENST00000368924.3	-	4	483	c.468C>T	c.(466-468)ccC>ccT	p.P156P	DDO_ENST00000368923.3_Intron|DDO_ENST00000368925.1_Silent_p.P128P	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	128					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		ACACATACTGGGGGAATTTCT	0.483000													16	25					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061310	9061310	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:9061310C>T	ENST00000397910.4	-	3	26339	c.26136G>A	c.(26134-26136)gaG>gaA	p.E8712E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8714	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTACTGATCTCCCTTAATC	0.498000													9	47					0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178358763	178358763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:178358763G>A	ENST00000361362.2	+	5	979	c.449G>A	c.(448-450)aGa>aAa	p.R150K	ZFP2_ENST00000523286.1_Missense_Mutation_p.R150K|ZFP2_ENST00000520301.1_Missense_Mutation_p.R150K|ZFP2_ENST00000503510.2_Missense_Mutation_p.R150K	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R150I(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTACATCAAAGAATTCATACT	0.413000													15	39					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5939646	5939646	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:5939646G>A	ENST00000546188.1	-	6	857	c.786C>T	c.(784-786)atC>atT	p.I262I	ANO2_ENST00000327087.8_Silent_p.I261I|ANO2_ENST00000356134.5_Silent_p.I262I			Q9NQ90	ANO2_HUMAN	anoctamin 2	266						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						CCTTTTCCTGGATGTTGTACC	0.478000													5	21					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54590048	54590048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:54590048G>A	ENST00000545554.1	+	11	4028	c.4028G>A	c.(4027-4029)cGa>cAa	p.R1343Q	UNC13C_ENST00000537900.1_Missense_Mutation_p.R1341Q|UNC13C_ENST00000260323.11_Missense_Mutation_p.R1343Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1343					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGGCCATACGATTGAAAATC	0.343000													7	17					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73724492	73724492	+	Silent	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:73724492T>C	ENST00000200181.3	+	6	691	c.504T>C	c.(502-504)acT>acC	p.T168T	ITGB4_ENST00000449880.2_Silent_p.T168T|ITGB4_ENST00000450894.3_Silent_p.T168T|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Silent_p.T168T|ITGB4_ENST00000339591.3_Silent_p.T168T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	168	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGACTACACTATTGGATTTG	0.582000													15	74					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19121890	19121890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:19121890C>T	ENST00000252137.6	-	10	1293	c.1250G>A	c.(1249-1251)aGc>aAc	p.S417N		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	417					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TGGTGTGTAGCTGGCCCGCAG	0.687000													7	89					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105732781	105732781	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:105732781A>C	ENST00000393127.2	+	5	965	c.519A>C	c.(517-519)aaA>aaC	p.K173N	GRIA4_ENST00000525187.1_Missense_Mutation_p.K173N|GRIA4_ENST00000393125.2_Missense_Mutation_p.K173N|GRIA4_ENST00000428631.2_Missense_Mutation_p.K173N|GRIA4_ENST00000530497.1_Missense_Mutation_p.K173N|GRIA4_ENST00000282499.5_Missense_Mutation_p.K173N	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	173					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TTATGGAAAAAGCAGGACAAA	0.368000													21	99					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33463111	33463111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:33463111G>A	ENST00000455041.2	-	24	3114	c.3055C>T	c.(3055-3057)Ctt>Ttt	p.L1019F	NOL6_ENST00000379471.2_Intron|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1071					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TAGAAGAAAAGGGCCAGATCC	0.552000													5	8					0	0	1	0	0
COL26A1	136227	broad.mit.edu	37	7	101187320	101187320	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:101187320C>T	ENST00000313669.7	+	0	838				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		TGCAGGCCCCCCCGGGTCTAA	0.647000													6	16					0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122085217	122085217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:122085217C>T	ENST00000454328.1	-	3	291	c.64G>A	c.(64-66)Gag>Aag	p.E22K	TNIP3_ENST00000509841.1_Missense_Mutation_p.E99K|TNIP3_ENST00000507879.1_Missense_Mutation_p.E92K|TNIP3_ENST00000057513.3_Missense_Mutation_p.E22K			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	22										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTTCTTACCTCTTTATGCTCC	0.393000													12	58					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140358795	140358795	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:140358795G>A	ENST00000406427.1	-	27	3489	c.3153C>T	c.(3151-3153)atC>atT	p.I1051I	PNPLA7_ENST00000277531.4_Silent_p.I1026I|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Silent_p.I632I	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1026	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGTGCACCTCGATCTGCTGGT	0.647000													81	94					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35450201	35450201	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:35450201G>A	ENST00000404801.1	-	4	944	c.558C>T	c.(556-558)aaC>aaT	p.N186N	ZNF792_ENST00000605484.1_Silent_p.N119N	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTCTGATAGGGTTGTGTACGT	0.537000													102	399					0	0	1	0	0
HELT	391723	broad.mit.edu	37	4	185940832	185940832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:185940832C>T	ENST00000338875.4	+	3	319	c.319C>T	c.(319-321)Ctc>Ttc	p.L107F	HELT_ENST00000515777.1_Intron|HELT_ENST00000505610.1_Intron	NM_001029887.1	NP_001025058.1	A6NFD8	HELT_HUMAN	helt bHLH transcription factor	107	Helix-loop-helix motif.						DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CTCGCTGGTCCTCTCCAGCGC	0.706000													4	12					0	0	1	0	0
MSRA	4482	broad.mit.edu	37	8	9912149	9912149	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:9912149G>A	ENST00000317173.4	+	1	372	c.123G>A	c.(121-123)aaG>aaA	p.K41K	MSRA_ENST00000441698.2_Silent_p.K41K|MSRA_ENST00000518255.1_Silent_p.K41K	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	41					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CGGGCCGGAAGGAACAGACCC	0.711000													6	41					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649560	20649560	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:20649560C>T	ENST00000428453.1	-	0	2638																		p.G650E(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GTCGTAATTTCCTTCTTTCCC	0.592000													51	106					0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3131141	3131141	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:3131141C>T	ENST00000359864.2	+	10	1045	c.855C>T	c.(853-855)ttC>ttT	p.F285F	TEAD4_ENST00000397122.2_Silent_p.F156F|TEAD4_ENST00000358409.2_Silent_p.F242F	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	285					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			AGGATCTCTTCGAACGGGGAC	0.532000													33	148					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38804994	38804994	+	Splice_Site	SNP	A	A	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:38804994A>T	ENST00000449082.2	-	5	691		c.e5+1			NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit						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)	ATAAATGCTCACCTGGGATCA	0.443000													14	79					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34190997	34190997	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:34190997G>C	ENST00000373381.4	-	17	2824	c.2648C>G	c.(2647-2649)tCt>tGt	p.S883C		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	843	Sushi 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTGTCGGTAGAGAAGAGGAG	0.577000													8	40					0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179887340	179887340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:179887340C>T	ENST00000435319.3	+	10	1909	c.1718C>T	c.(1717-1719)cCt>cTt	p.P573L	TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.P589L	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	573						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CCTGTGCAACCTGAAAATGCC	0.433000													27	38					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270359	84270359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:84270359C>T	ENST00000568181.1	-	2	853	c.733G>A	c.(733-735)Gac>Aac	p.D245N	KCNG4_ENST00000308251.4_Missense_Mutation_p.D245N			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	245						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCCCTGAGGTCGGGCATGGTG	0.642000													15	59					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1487373	1487373	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:1487373G>A	ENST00000297508.7	-	4	538	c.363C>T	c.(361-363)gcC>gcT	p.A121A	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	121						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AGTCCTCCGAGGCCCTCTTCA	0.662000													7	9					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765976	18765976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:18765976G>A	ENST00000304081.4	-	4	627	c.527C>T	c.(526-528)tCg>tTg	p.S176L	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.S236L|NT5C1B_ENST00000359846.2_Missense_Mutation_p.S236L|NT5C1B_ENST00000600945.1_Missense_Mutation_p.S236L	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GGACGTGCGCGAATATTCCAG	0.662000													13	41					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22575649	22575649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:22575649C>T	ENST00000357774.5	-	4	509	c.388G>A	c.(388-390)Gat>Aat	p.D130N		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTACACTCATCCATGCTTTTA	0.308000													6	28					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111482704	111482704	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:111482704A>G	ENST00000265162.5	+	20	3206	c.2864A>G	c.(2863-2865)gAg>gGg	p.E955G	ENPEP_ENST00000504100.1_Intron	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	955					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AATTTACTTGAGAGTGGTTAA	0.348000													8	13					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154132188	154132188	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:154132188G>A	ENST00000360256.4	-	18	6191	c.5991C>T	c.(5989-5991)ctC>ctT	p.L1997L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1997	F5/8 type A 3.|Plastocyanin-like 6.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TACCTGGATAGAGATTGTACA	0.388000													26	150					0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64275881	64275881	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:64275881C>T	ENST00000261891.3	-	2	170	c.165G>A	c.(163-165)aaG>aaA	p.K55K	DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000558069.1_Silent_p.K55K|DAPK2_ENST00000457488.1_Silent_p.K55K			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	55	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TCTGCCGCTTCTTGATGAACT	0.617000													11	55					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35792626	35792626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:35792626C>T	ENST00000342694.2	+	1	476	c.221C>T	c.(220-222)gCc>gTc	p.A74V		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	74					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGGAAGGCGCCTGCTCTGAG	0.662000													27	71					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53571340	53571340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:53571340G>A	ENST00000601421.1	-	3	3215	c.2339C>T	c.(2338-2340)cCt>cTt	p.P780L	ZNF160_ENST00000429604.1_Missense_Mutation_p.P816L|ZNF160_ENST00000418871.1_Missense_Mutation_p.P816L|ZNF160_ENST00000599056.1_Missense_Mutation_p.P816L			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	816					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TCATTTGTAAGGTTTCTCTCC	0.413000													42	198					0	0	1	0	0
NASP	4678	broad.mit.edu	37	1	46073286	46073286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:46073286G>A	ENST00000350030.3	+	6	790	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.E237K|NASP_ENST00000537798.1_Missense_Mutation_p.E171K|NASP_ENST00000372052.4_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	235	Glu-rich (acidic).|Histone-binding.				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GCCAGAACAGGAAGTACCAGA	0.473000													15	47					0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44635090	44635090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:44635090C>T	ENST00000262894.6	+	5	603	c.323C>T	c.(322-324)tCa>tTa	p.S108L	ZNF225_ENST00000590612.1_Missense_Mutation_p.S108L|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GAACAAATTTCAAGTGACTTA	0.413000													67	92					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120650760	120650760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:120650760G>A	ENST00000427067.2	-	2	209	c.29C>T	c.(28-30)tCc>tTc	p.S10F	ENPP2_ENST00000259486.6_Missense_Mutation_p.S14F|ENPP2_ENST00000075322.6_Missense_Mutation_p.S14F|ENPP2_ENST00000522826.1_Missense_Mutation_p.S14F			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	14					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGTGAACAGGGATATTATCTA	0.398000													32	138					0	0	1	0	0
STARD3NL	83930	broad.mit.edu	37	7	38247239	38247239	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:38247239A>C	ENST00000009041.7	+	2	391	c.134A>C	c.(133-135)aAg>aCg	p.K45T	STARD3NL_ENST00000434197.1_Missense_Mutation_p.K45T|STARD3NL_ENST00000544203.1_Missense_Mutation_p.K38T|STARD3NL_ENST00000396013.1_Missense_Mutation_p.K45T	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	45						integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						GGAAGGGAAAAGAAAGGCATA	0.448000													31	163					0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59599224	59599224	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:59599224G>A	ENST00000541311.1	-	8	1278	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	GIF_ENST00000257248.2_Silent_p.I373I			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	373					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGATATTGTTGATAGAAGAGA	0.378000													30	71					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111297894	111297894	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:111297894A>C	ENST00000352690.4	+	4	804	c.564A>C	c.(562-564)gaA>gaC	p.E188D	CD96_ENST00000283285.5_Missense_Mutation_p.E204D|CD96_ENST00000438817.2_Missense_Mutation_p.E188D	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	204	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GAACTCAGGAAACACTTATCT	0.428000									Opitz Trigonocephaly syndrome				29	75					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7503289	7503289	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:7503289G>A	ENST00000486284.1	+	7	1669	c.1395G>A	c.(1393-1395)gtG>gtA	p.V465V	GRM7_ENST00000389336.4_Silent_p.V465V|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Silent_p.V465V|GRM7_ENST00000357716.4_Silent_p.V465V|GRM7_ENST00000403881.1_Silent_p.V465V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	465					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCACTCCAGTGATGTTTAACA	0.453000													31	103					0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2853201	2853201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:2853201C>T	ENST00000334241.4	+	4	1276	c.1138C>T	c.(1138-1140)Ccc>Tcc	p.P380S	ZNF555_ENST00000591539.1_Missense_Mutation_p.P379S|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	380					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)		CTTCATTTATCCCCAGTCCTT	0.468000													5	43					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56485170	56485170	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:56485170G>T	ENST00000291971.3	+	7	2758	c.2687G>T	c.(2686-2688)tGt>tTt	p.C896F	NLRP8_ENST00000590542.1_Missense_Mutation_p.C877F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	896						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CACCTGAGATGTCCTCTGCAG	0.478000													51	63					2.89935e-36	2.99775e-36	1	1	0
GPC5	2262	broad.mit.edu	37	13	92380915	92380915	+	Silent	SNP	A	A	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:92380915A>C	ENST00000377067.3	+	4	1522	c.1150A>C	c.(1150-1152)Aga>Cga	p.R384R	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	384						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGCCAACAGAAGAAAGTAAGA	0.363000													24	57					0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7796197	7796197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:7796197C>T	ENST00000328853.5	-	3	243	c.175G>A	c.(175-177)Gag>Aag	p.E59K	CLEC4G_ENST00000598081.1_5'UTR	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	59						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GCCGCGCGCTCCGTGGAGGCT	0.726000													4	5					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810601	123810601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:123810601C>T	ENST00000307033.2	+	1	352	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTACCATTTCCTTTGGTGGA	0.468000													36	65					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191898243	191898243	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:191898243A>G	ENST00000392320.2	-	20	2139	c.1825T>C	c.(1825-1827)Ttc>Ctc	p.F609L	STAT4_ENST00000358470.4_Missense_Mutation_p.F609L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	609	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACCCAGGTGAAAGTTATTCCT	0.378000													18	39					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50249809	50249809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:50249809C>T	ENST00000246801.3	-	6	992	c.910G>A	c.(910-912)Gga>Aga	p.G304R	TSKS_ENST00000358830.3_Missense_Mutation_p.G104R	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	304							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GGCCCCATTCCCCAGCCTGCG	0.721000													27	48					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746538	95746538	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:95746538C>T	ENST00000311106.3	-	8	1272	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	PCSK1_ENST00000508626.1_Silent_p.E298E|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	345	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGAGCACTTCTCAGCGTACC	0.512000													95	148					0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122068286	122068286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:122068286C>T	ENST00000454328.1	-	9	880	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	TNIP3_ENST00000509841.1_Missense_Mutation_p.R295Q|TNIP3_ENST00000507879.1_Missense_Mutation_p.R288Q|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000057513.3_Missense_Mutation_p.R218Q			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	218										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AAGTCTCTCTCGATCCGATCG	0.373000													19	54					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95761117	95761117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:95761117G>A	ENST00000416240.2	-	15	1722	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	SLC25A13_ENST00000542654.1_Missense_Mutation_p.S402F|SLC25A13_ENST00000265631.5_Missense_Mutation_p.S510F	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	510					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ATTTGCAAAGGAAGCCTTCAC	0.512000													21	35					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12543219	12543219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:12543219G>A	ENST00000301547.5	-	3	360	c.163C>T	c.(163-165)Caa>Taa	p.Q55*	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	55	KRAB.				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TATCTATATTGATCTTCAATG	0.294000													27	52					0	0	1	0	0
TFRC	7037	broad.mit.edu	37	3	195794484	195794484	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:195794484G>A	ENST00000360110.4	-	9	1114	c.945C>T	c.(943-945)tcC>tcT	p.S315S	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.S33S|TFRC_ENST00000420415.1_Silent_p.S234S|TFRC_ENST00000392396.3_Silent_p.S315S	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	315					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TGTGATTGAAGGAAGGGAATC	0.463000			T	BCL6	NHL								32	64					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25420128	25420128	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:25420128C>T	ENST00000441592.2	+	0	179				SNORD115-3_ENST00000363100.1_RNA																							ACTTAAAAATCATGCTTAGTA	0.498000													147	269					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39191380	39191380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:39191380G>A	ENST00000399820.3	+	4	423	c.269G>A	c.(268-270)aGc>aAc	p.S90N	WDR19_ENST00000288634.7_5'UTR|WDR19_ENST00000506503.1_Missense_Mutation_p.S90N	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	90					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AATAAGACCAGCCAGTTAGAC	0.363000													25	40					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153303356	153303356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:153303356C>T	ENST00000368739.3	-	9	1355	c.997G>A	c.(997-999)Ggg>Agg	p.G333R	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.G337R			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	337					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCAGGTACCCTTTGACCATG	0.547000													22	103					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211124	59211124	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:59211124C>T	ENST00000302030.2	+	1	508	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCTCCCTGATCCAGGCCAGCT	0.557000													141	281					0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79598800	79598800	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:79598800G>T	ENST00000263849.4	+	4	411	c.309G>T	c.(307-309)gaG>gaT	p.E103D	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	103																	CCCTCAAAGAGGGTGGCAAAC	0.413000													3	45					1	1	1	1	0
ANGPTL5	253935	broad.mit.edu	37	11	101762310	101762310	+	Silent	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:101762310G>T	ENST00000334289.3	-	9	1462	c.867C>A	c.(865-867)ctC>ctA	p.L289L		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	289	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CTTCTTTTTTGAGACCCCGGA	0.358000													6	45					2.0095e-06	2.03623e-06	1	1	0
BIRC8	112401	broad.mit.edu	37	19	53793362	53793362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:53793362C>T	ENST00000426466.1	-	1	1513	c.266G>A	c.(265-267)gGa>gAa	p.G89E		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	89					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TACCAGAGCTCCCTCAAGTGA	0.393000													40	82					0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054484	67054484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:67054484C>T	ENST00000295568.4	+	3	1146	c.1015C>T	c.(1015-1017)Cat>Tat	p.H339Y	KBTBD8_ENST00000417314.2_Missense_Mutation_p.H365Y|KBTBD8_ENST00000460576.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	365										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GATGTATGATCATTCCACCAA	0.448000													18	50					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94519598	94519598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:94519598C>T	ENST00000375708.3	-	3	617	c.419G>A	c.(418-420)gGg>gAg	p.G140E	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	140	Ig-like C2-type.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTCTTCATCCCGTTGGTGGC	0.557000													52	65					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463358	5463358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:5463358C>T	ENST00000296564.7	+	13	4133	c.3911C>T	c.(3910-3912)cCa>cTa	p.P1304L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1304										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGAAAAGTCCATTTCGGGAA	0.438000													11	11					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229365	21229365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:21229365C>T	ENST00000233242.1	-	26	10502	c.10375G>A	c.(10375-10377)Gaa>Aaa	p.E3459K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3459	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TACTTAAATTCCATGGAGGAA	0.388000													55	142					0	0	1	0	0
KRT17	3872	broad.mit.edu	37	17	39780588	39780588	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:39780588G>A	ENST00000311208.8	-	1	241	c.174C>T	c.(172-174)tcC>tcT	p.S58S	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	58	Head.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				TGTAGCAGCTGGAGTAGCTGC	0.667000													9	29					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108719488	108719488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:108719488C>T	ENST00000232603.5	-	21	2185	c.2103G>A	c.(2101-2103)atG>atA	p.M701I	MORC1_ENST00000483760.1_Missense_Mutation_p.M680I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	701					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GCTTCCTTTTCATTTCCCAAG	0.363000													18	59					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974972	20974972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:20974972G>A	ENST00000261383.3	-	53	10233	c.10234C>T	c.(10234-10236)Ccc>Tcc	p.P3412S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3412					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)		AGCCATTGGGGAGCTGGATTG	0.527000													11	66					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960442	73960442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:73960442G>A	ENST00000373468.1	-	3	4601	c.3950C>T	c.(3949-3951)tCc>tTc	p.S1317F	KIAA2022_ENST00000055682.5_Missense_Mutation_p.S1317F			Q5QGS0	K2022_HUMAN	KIAA2022	1317					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CAAGATATAGGAAGGCTCCTG	0.537000													44	85					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105451268	105451268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:105451268G>A	ENST00000337685.2	+	5	2628	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	MUM1L1_ENST00000372552.1_Missense_Mutation_p.E615K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.E615K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	615										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATATTTACAAGAAGTCTGCAA	0.318000													9	20					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153287	5153287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:5153287G>A	ENST00000307388.1	-	1	585	c.586C>T	c.(586-588)Cga>Tga	p.R196*		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTGTTGACTCGGATATCTTCA	0.403000													44	124					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9172245	9172245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:9172245G>A	ENST00000328194.3	-	14	2908	c.2588C>T	c.(2587-2589)tCc>tTc	p.S863F	DENND5A_ENST00000530044.1_Missense_Mutation_p.S863F|DENND5A_ENST00000527700.1_Missense_Mutation_p.S206F	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	863	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGAATCAGGGAGATCCTCAG	0.433000													29	121					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131922068	131922068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:131922068C>T	ENST00000286355.5	-	6	3618	c.1526G>A	c.(1525-1527)gGa>gAa	p.G509E	ADCY8_ENST00000377928.3_Missense_Mutation_p.G509E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	509					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGAGTGGATTCCAATCCTCAT	0.473000										HNSCC(32;0.087)			22	115					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940620	113940620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:113940620C>T	ENST00000245796.6	+	2	782	c.587C>T	c.(586-588)cCc>cTc	p.P196L	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Missense_Mutation_p.P196L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	196					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGGACCTCCCCGGGGACACG	0.637000													24	42					0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736497	24736497	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:24736497C>T	ENST00000483544.1	-	0	605					NR_029451.2																						TGAAAATCTCCCCAGACCCCA	0.527000													9	51					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55910796	55910796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:55910796C>T	ENST00000388975.3	-	5	513	c.397G>A	c.(397-399)Gat>Aat	p.D133N		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	133					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AATTGGGCATCTATGTAGTCA	0.353000													4	11					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2613675	2613675	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:2613675T>C	ENST00000406454.3	+	8	1187	c.1187T>C	c.(1186-1188)gTt>gCt	p.V396A	CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V396A|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V396A|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399634.1_Missense_Mutation_p.V396A|CACNA1C_ENST00000399641.1_Missense_Mutation_p.V396A|CACNA1C_ENST00000399637.1_Intron			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	396					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCCTTTTTCGTTCTAAATCTG	0.488000													47	96					0	0	1	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183624	11183624	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:11183624A>G	ENST00000390675.2	-	1	382	c.311T>C	c.(310-312)aTa>aCa	p.I104T	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	104					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						CAAATAAAATATGCTGAGGCT	0.393000													15	153					0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90020691	90020691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:90020691C>T	ENST00000563594.1	+	3	1028	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	DEF8_ENST00000268676.7_Missense_Mutation_p.R72W|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000569453.1_Missense_Mutation_p.R11W|DEF8_ENST00000570182.1_Missense_Mutation_p.R11W|DEF8_ENST00000563795.1_Missense_Mutation_p.R11W|DEF8_ENST00000418391.2_Missense_Mutation_p.R11W	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	72					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GGCCCGTTTCCGGCAGGCCCA	0.642000													44	72					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27284167	27284167	+	Missense_Mutation	SNP	C	C	T	rs140304729		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:27284167C>T	ENST00000358918.3	-	14	1994	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	APP_ENST00000348990.5_Missense_Mutation_p.E524K|APP_ENST00000357903.3_Missense_Mutation_p.E580K|APP_ENST00000448388.2_Missense_Mutation_p.E489K|APP_ENST00000359726.3_Missense_Mutation_p.E543K|APP_ENST00000354192.3_Missense_Mutation_p.E468K|APP_ENST00000439274.2_Missense_Mutation_p.E543K|APP_ENST00000346798.3_Missense_Mutation_p.E599K|APP_ENST00000440126.3_Missense_Mutation_p.E575K	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	599					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GTTTTCGTTTCGGTCAAAGAT	0.502000													22	52					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868507	150868507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:150868507G>A	ENST00000370353.3	+	3	437	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	PRRG3_ENST00000538575.1_Missense_Mutation_p.R16Q|PRRG3_ENST00000370354.1_Missense_Mutation_p.R24Q			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	16						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTGAAACGATTCCCTCGT	0.587000													6	72					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777588	237777588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:237777588G>A	ENST00000366574.2	+	37	5477	c.5160G>A	c.(5158-5160)atG>atA	p.M1720I	RYR2_ENST00000542537.1_Missense_Mutation_p.M1704I|RYR2_ENST00000360064.6_Missense_Mutation_p.M1718I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1720	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAGGCTCATGATGAACAACG	0.522000													13	23					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967015	81967015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:81967015C>T	ENST00000282701.2	+	2	760	c.440C>T	c.(439-441)cCa>cTa	p.P147L		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	147					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CTGAGTTGTCCAGTGTCTGGA	0.428000													10	59					0	0	1	0	0
CBX7	23492	broad.mit.edu	37	22	39530047	39530047	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:39530047G>T	ENST00000216133.5	-	6	810	c.605C>A	c.(604-606)gCc>gAc	p.A202D	CBX7_ENST00000401405.3_Missense_Mutation_p.A109D|CBX7_ENST00000475962.1_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	202					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					GGCCAGGTCGGCATCTGCTGC	0.647000													19	169					3.83957e-06	3.88634e-06	1	1	0
MCTP1	79772	broad.mit.edu	37	5	94278084	94278084	+	Silent	SNP	G	G	A	rs142378017		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:94278084G>A	ENST00000515393.1	-	4	1028	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A	MCTP1_ENST00000429576.2_Silent_p.A122A|MCTP1_ENST00000505208.1_Silent_p.A122A|MCTP1_ENST00000312216.8_Silent_p.A122A	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	343	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GATCCAGAAAGGCTGAGCCCA	0.388000													29	31					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812216	2812216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:2812216C>T	ENST00000301740.8	+	11	2236	c.1687C>T	c.(1687-1689)Cac>Tac	p.H563Y		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	563	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGGGAGGTCCCACTCTAGATC	0.617000													18	22					0	0	1	0	0
FAS	355	broad.mit.edu	37	10	90767594	90767594	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:90767594G>A	ENST00000355740.2	+	3	554	c.334_splice	c.e3+1	p.G112_splice	FAS_ENST00000355279.2_Splice_Site_p.G112_splice|FAS_ENST00000357339.2_Splice_Site_p.G112_splice|FAS_ENST00000352159.4_Splice_Site_p.G112_splice|FAS_ENST00000313771.5_3'UTR	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	112					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TGAAGGACATGGTAAGAGTCT	0.413000													47	51					0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:66729162C>T	ENST00000307102.5	+	3	901	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	124	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P124S(8)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GTGCAACTCTCCGTACATCGT	0.507000													31	52					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587523	42587523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:42587523C>T	ENST00000289957.2	+	5	1201	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	358					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGCTACTCATCCCCAGAGAAA	0.438000													8	40					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113176007	113176007	+	Silent	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:113176007A>G	ENST00000295872.4	-	13	1892	c.1633T>C	c.(1633-1635)Tta>Cta	p.L545L		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	545					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GAGAATTTTAAGTTGCTCTTC	0.393000													16	90					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31734980	31734980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:31734980C>T	ENST00000375686.3	-	13	2074	c.1837G>A	c.(1837-1839)Gat>Aat	p.D613N	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.D613N|VWA7_ENST00000447450.1_Missense_Mutation_p.D613N	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	613						extracellular region											TGGGGTCCATCCTCCATGGGG	0.542000													13	15					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695227	247695227	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:247695227T>A	ENST00000366487.3	-	2	948	c.587A>T	c.(586-588)aAt>aTt	p.N196I	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTCCATCTCATTGAGGCTGGT	0.537000													9	54					0	0	1	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512953	68512953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:68512953C>T	ENST00000370981.1	-	4	664	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.E10K|GNG12-AS1_ENST00000413628.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	10					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGCTTCTGTTCCTTGGAGCCA	0.582000													16	21					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61851400	61851400	+	Silent	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:61851400G>T	ENST00000577390.1	-	7	2214	c.1260C>A	c.(1258-1260)atC>atA	p.I420I	CDH8_ENST00000299345.6_Silent_p.I420I|CDH8_ENST00000584337.1_Silent_p.I420I|CDH8_ENST00000577730.1_Silent_p.I420I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	420	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GACTGGAAGTGATATCAGGGT	0.428000													12	51					0.000566183	0.000569297	1	1	0
CLEC16A	23274	broad.mit.edu	37	16	11272358	11272358	+	Silent	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:11272358T>A	ENST00000409790.1	+	24	3203	c.2973T>A	c.(2971-2973)atT>atA	p.I991I	CLEC16A_ENST00000381822.2_Silent_p.I78I	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	991								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGCCCACCATTTCCCTGCTCT	0.672000													32	138					0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624669	123624669	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:123624669G>A	ENST00000327930.2	-	1	584	c.558C>T	c.(556-558)gcC>gcT	p.A186A		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGTCTATGCAGGCGGCTTTCA	0.438000													16	119					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28903799	28903799	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:28903799T>A	ENST00000282397.4	-	19	2911	c.2660A>T	c.(2659-2661)cAc>cTc	p.H887L	FLT1_ENST00000540678.1_Missense_Mutation_p.H105L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	887	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTTCAGATGGTGGCCAATGTG	0.582000													17	29					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	1009160	1009160	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:1009160C>T	ENST00000448903.2	+	19	2622	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F	AP2A2_ENST00000332231.5_Silent_p.F828F|AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_3'UTR	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	827					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAAATTCTTCCAGCCGACAG	0.542000													17	48					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53571341	53571341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:53571341G>A	ENST00000601421.1	-	3	3214	c.2338C>T	c.(2338-2340)Cct>Tct	p.P780S	ZNF160_ENST00000429604.1_Missense_Mutation_p.P816S|ZNF160_ENST00000418871.1_Missense_Mutation_p.P816S|ZNF160_ENST00000599056.1_Missense_Mutation_p.P816S			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	816					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CATTTGTAAGGTTTCTCTCCG	0.413000													41	200					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37597945	37597945	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:37597945C>T	ENST00000399151.3	+	12	1538	c.1453C>T	c.(1453-1455)Ctg>Ttg	p.L485L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	485					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTGGTCTTCCTGCTGGATGT	0.532000													18	70					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177247747	177247747	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:177247747A>G	ENST00000361539.4	+	7	1373	c.1061A>G	c.(1060-1062)aAc>aGc	p.N354S	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		354						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CGGTTCCTGAACTCCACAGCT	0.557000													61	340					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2074697	2074697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:2074697G>A	ENST00000511885.2	-	25	2868	c.2515C>T	c.(2515-2517)Cag>Tag	p.Q839*	POLN_ENST00000382865.1_Nonsense_Mutation_p.Q839*			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	839					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCCCTCACCTGAAGCTGCAGC	0.637000								DNA polymerases (catalytic subunits)					79	69					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	122004357	122004357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:122004357G>A	ENST00000265922.3	-	4	1008	c.547C>T	c.(547-549)Cat>Tat	p.H183Y	DBC1_ENST00000373964.2_Missense_Mutation_p.H183Y	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		183	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TGGATCTCATGAAGCCTCCTC	0.502000													45	55					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52378654	52378654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:52378654C>T	ENST00000420323.2	+	9	1696	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	479	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGAGCAGGTGCCTGAGCGAGG	0.602000													4	18					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4512034	4512034	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:4512034C>T	ENST00000301286.3	-	3	1895	c.1896G>A	c.(1894-1896)aaG>aaA	p.K632K		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	632	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GCACAGCCCCCTTGGCCACGT	0.552000													53	115					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28137058	28137058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:28137058C>T	ENST00000304658.5	-	13	2218	c.1718G>A	c.(1717-1719)gGg>gAg	p.G573E	XPO6_ENST00000565698.1_Missense_Mutation_p.G559E	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	573					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AAACACATCCCCGATAAAGTA	0.572000													62	119					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112993366	112993366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:112993366C>T	ENST00000495514.1	+	9	2083	c.1379C>T	c.(1378-1380)cCg>cTg	p.P460L	BOC_ENST00000497495.1_3'UTR|BOC_ENST00000355385.3_Missense_Mutation_p.P460L|BOC_ENST00000273395.4_Missense_Mutation_p.P460L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	460					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCTGCTTCCCCGCAGTGTCCA	0.647000													10	26					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896704	175896704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:175896704C>T	ENST00000359240.3	+	5	698	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F	ADAM29_ENST00000404450.4_Missense_Mutation_p.L10F|ADAM29_ENST00000514159.1_Missense_Mutation_p.L10F|ADAM29_ENST00000445694.1_Missense_Mutation_p.L10F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	10					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GCTGCATTGCCTTGGGGTGTT	0.488000													18	96					0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120003510	120003510	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:120003510C>T	ENST00000354888.5	+	3	942	c.438C>T	c.(436-438)ttC>ttT	p.F146F	STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Silent_p.F146F|STEAP3_ENST00000393107.2_Silent_p.F146F|STEAP3_ENST00000425223.2_Silent_p.F146F|STEAP3_ENST00000409811.1_Silent_p.F146F|STEAP3_ENST00000393106.2_Silent_p.F146F|STEAP3_ENST00000393110.2_Silent_p.F156F|STEAP3_ENST00000393108.2_Silent_p.F146F	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	146					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TCAAGGCCTTCAATGTCATCT	0.517000													19	163					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169279309	169279309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:169279309G>A	ENST00000511577.1	-	38	5357	c.5110C>T	c.(5110-5112)Cat>Tat	p.H1704Y	DDX60L_ENST00000260184.7_Missense_Mutation_p.H1704Y			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1704							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TATTCTAAATGATTTTGACTC	0.308000													15	47					0	0	1	0	0
MIER3	166968	broad.mit.edu	37	5	56242797	56242797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:56242797C>T	ENST00000381226.3	-	3	166	c.151G>A	c.(151-153)Gat>Aat	p.D51N	MIER3_ENST00000381213.3_Missense_Mutation_p.D46N|AC016644.1_ENST00000438553.1_RNA|MIER3_ENST00000381199.3_Missense_Mutation_p.D46N			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TTACCCTCATCCATCATTTCC	0.338000													12	15					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62818056	62818056	+	RNA	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:62818056G>A	ENST00000582986.1	-	0	442					NR_024386.1																						CAGGCTGAGGGAGGAGGCAGT	0.532000													8	37					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158812179	158812179	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:158812179T>C	ENST00000368141.4	+	2	497	c.236T>C	c.(235-237)gTt>gCt	p.V79A	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	79	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAAAACCTTGTTAACAATCTT	0.388000													46	75					0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197687095	197687095	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:197687095G>A	ENST00000330198.4	+	1	25	c.3G>A	c.(1-3)atG>atA	p.M1I	LMLN_ENST00000482695.1_5'UTR|LMLN_ENST00000420910.2_Start_Codon_SNP_p.M1I	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	1					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CGCACTCCATGGTAACGACGC	0.736000													6	29					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53190854	53190854	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:53190854A>C	ENST00000566029.1	+	2	1062	c.853A>C	c.(853-855)Agt>Cgt	p.S285R	CHD9_ENST00000564845.1_Missense_Mutation_p.S285R|CHD9_ENST00000447540.1_Missense_Mutation_p.S285R|CHD9_ENST00000398510.3_Missense_Mutation_p.S285R			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	285	Ser-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATCACCAAACAGTCTACTTCA	0.343000													24	119					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53654425	53654425	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:53654425G>A	ENST00000342160.3	-	16	1882	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	HUWE1_ENST00000262854.6_Silent_p.I475I|HUWE1_ENST00000218328.8_Silent_p.I475I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	475					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTTTGGCTTGATCACAAACG	0.318000													37	161					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33324517	33324517	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:33324517A>G	ENST00000374796.2	-	13	8509	c.5939T>C	c.(5938-5940)cTg>cCg	p.L1980P	NCOA6_ENST00000359003.2_Missense_Mutation_p.L1980P			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1980	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGAGGCCTGCAGTGCTGTGGT	0.433000													17	47					0	0	1	0	0
SMPX	23676	broad.mit.edu	37	X	21761899	21761899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:21761899C>T	ENST00000379494.3	-	3	334	c.101G>A	c.(100-102)aGa>aAa	p.R34K	SMPX_ENST00000494525.1_5'UTR	NM_014332.2	NP_055147.1	Q9UHP9	SMPX_HUMAN	small muscle protein, X-linked	34					striated muscle contraction					breast(1)|endometrium(1)	2						TTCTTTTCTTCTGGGGGGTTG	0.448000													42	74					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77455013	77455013	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:77455013C>T	ENST00000451710.3	-	5	708	c.471G>A	c.(469-471)gaG>gaA	p.E157E	TRPM6_ENST00000449912.2_Silent_p.E152E|TRPM6_ENST00000376872.3_Silent_p.E157E|TRPM6_ENST00000376864.4_Silent_p.E157E|TRPM6_ENST00000376871.3_Silent_p.E157E|TRPM6_ENST00000361255.3_Silent_p.E152E|TRPM6_ENST00000360774.1_Silent_p.E157E|TRPM6_ENST00000359047.2_Silent_p.E157E			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	157					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGCTGAAAATCTCTTTAAATT	0.433000													41	63					0	0	1	0	0
CHST7	56548	broad.mit.edu	37	X	46433603	46433603	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:46433603G>A	ENST00000276055.3	+	1	385	c.237G>A	c.(235-237)gcG>gcA	p.A79A		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	79					chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						AAGGGGGCGCGAACCAGTCTC	0.726000													3	9					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7151394	7151394	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:7151394A>C	ENST00000303635.7	+	4	472	c.265A>C	c.(265-267)Aaa>Caa	p.K89Q	CAMTA1_ENST00000439411.2_Missense_Mutation_p.K89Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AACATTTGAGAAACACGAAGA	0.348000			T	WWTR1	epitheliod hemangioendothelioma								24	28					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56765977	56765977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:56765977C>T	ENST00000381295.2	+	17	2612	c.2264C>T	c.(2263-2265)gCc>gTc	p.A755V	EXOC1_ENST00000346134.7_Missense_Mutation_p.A755V|EXOC1_ENST00000349598.6_Missense_Mutation_p.A740V	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	755					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AAAAAAGAAGCCAAACAAAAA	0.323000													59	46					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31421776	31421776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:31421776C>T	ENST00000389202.2	+	11	1193	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	382					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTTCCTGTATCCCCCAAATAT	0.567000													63	103					0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395072	49395072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:49395072C>T	ENST00000419783.1	-	2	682	c.361G>A	c.(361-363)Ggg>Agg	p.G121R	GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_3'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	121					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	GGGTGCGCCCCCGCACCGTTC	0.622000													11	45					0	0	1	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112305454	112305454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:112305454C>T	ENST00000550735.2	+	4	1021	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S	MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.P89S|MAPKAPK5_ENST00000546394.1_3'UTR	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	89	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						TGTCCAGTTTCCCCATGAGTC	0.458000													55	239					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121415180	121415180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:121415180G>A	ENST00000393667.3	-	13	4300	c.4190C>T	c.(4189-4191)cCt>cTt	p.P1397L	GOLGB1_ENST00000340645.5_Missense_Mutation_p.P1392L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1392					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATCCAGTTTAGGTTGCAATTC	0.418000													31	112					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62758426	62758426	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:62758426C>T	ENST00000512091.1	+	9	2076	c.1329C>T	c.(1327-1329)acC>acT	p.T443T	LPHN3_ENST00000506720.1_Silent_p.T511T|LPHN3_ENST00000511324.1_Silent_p.T511T|LPHN3_ENST00000504896.1_Silent_p.T443T|LPHN3_ENST00000509896.1_Silent_p.T511T|LPHN3_ENST00000514591.1_Silent_p.T443T|LPHN3_ENST00000508693.1_Silent_p.T511T|LPHN3_ENST00000507164.1_Silent_p.T511T|LPHN3_ENST00000545650.1_Silent_p.T443T|LPHN3_ENST00000514996.1_Silent_p.T443T|LPHN3_ENST00000506746.1_Silent_p.T511T|LPHN3_ENST00000508946.1_Silent_p.T443T|LPHN3_ENST00000514157.1_Silent_p.T443T|LPHN3_ENST00000506700.1_Silent_p.T443T|LPHN3_ENST00000507625.1_Silent_p.T511T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	443					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCAGTACCACCCTTCGGACCA	0.493000													17	258					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63046000	63046000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:63046000C>T	ENST00000561311.1	+	35	4591	c.4361C>T	c.(4360-4362)cCa>cTa	p.P1454L	TLN2_ENST00000306829.6_Missense_Mutation_p.P1454L			Q9Y4G6	TLN2_HUMAN	talin 2	1454					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATCTCTGATCCAAACAGCCAG	0.592000													19	64					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853499	12853499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:12853499G>A	ENST00000332296.7	+	2	226	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	41										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACTCTTCATGGAGGCCTTCA	0.587000													39	70					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156267	146156267	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:146156267T>C	ENST00000276816.4	-	4	2092	c.1906A>G	c.(1906-1908)Aaa>Gaa	p.K636E	ZNF16_ENST00000394909.2_Missense_Mutation_p.K636E	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTGAAGGCTTTCCCACACTCA	0.552000													24	95					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89150311	89150311	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:89150311G>A	ENST00000370521.3	+	1	407	c.48_splice	c.e1+1	p.Q16_splice	PKN2_ENST00000316005.7_Splice_Site_p.Q16_splice|PKN2_ENST00000370513.5_Splice_Site_p.Q16_splice|RP11-76N22.2_ENST00000458097.1_RNA|PKN2_ENST00000370505.3_5'UTR	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	16					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CGGAACTGCAGGTAAGGGCCG	0.726000													4	6					0	0	1	0	0
ENO3	2027	broad.mit.edu	37	17	4858534	4858534	+	Silent	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:4858534T>C	ENST00000323997.6	+	7	741	c.609T>C	c.(607-609)gaT>gaC	p.D203D	ENO3_ENST00000519584.1_Silent_p.D160D|ENO3_ENST00000518175.1_Silent_p.D203D	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	203					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						ATGGGAAGGATGCCACCAATG	0.597000													41	51					0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67633822	67633822	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:67633822C>T	ENST00000347310.5	+	2	190	c.19C>T	c.(19-21)Caa>Taa	p.Q7*	IL23R_ENST00000371002.1_Nonsense_Mutation_p.Q7*|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	7					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GGTCACTATTCAATGGGATGC	0.328000													23	157					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916201	131916201	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:131916201G>A	ENST00000286355.5	-	7	3820	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	ADCY8_ENST00000377928.3_Silent_p.F576F	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	576					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTTCCTCAGGAATTCATTCC	0.468000										HNSCC(32;0.087)			74	140					0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80646712	80646712	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:80646712G>A	ENST00000299564.8	-	5	1184	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	CDYL2_ENST00000566173.1_Silent_p.I344I|CDYL2_ENST00000562812.1_Silent_p.I344I|CDYL2_ENST00000563890.1_Silent_p.I344I	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	343						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TCTTAAACTGGATAAAGGCCT	0.562000													20	26					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237872838	237872838	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:237872838G>T	ENST00000366574.2	+	70	10518	c.10201G>T	c.(10201-10203)Gaa>Taa	p.E3401*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E3385*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E3399*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3401					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATGGTGGCTGAAGTGTTTAT	0.458000													3	31					0.014758	0.0148066	1	1	0
LIPH	200879	broad.mit.edu	37	3	185229459	185229459	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:185229459T>G	ENST00000296252.4	-	9	1262	c.1121A>C	c.(1120-1122)cAc>cCc	p.H374P	LIPH_ENST00000424591.2_Missense_Mutation_p.H340P	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	374					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ACTCACTTGGTGATATTTCTG	0.388000													23	85					0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67166422	67166422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:67166422C>T	ENST00000219139.3	+	5	537	c.349C>T	c.(349-351)Cct>Tct	p.P117S	C16orf70_ENST00000569600.1_Missense_Mutation_p.P117S|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	117										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CGCAACCCATCCTGGAGGTAA	0.463000													37	181					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96762413	96762413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:96762413C>T	ENST00000295266.4	+	1	1175	c.1112C>T	c.(1111-1113)tCa>tTa	p.S371L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	371					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AGCAGTGATTCATCTTTTGAA	0.433000													22	82					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76528908	76528908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:76528908G>A	ENST00000307431.8	+	15	2564	c.2179G>A	c.(2179-2181)Gga>Aga	p.G727R	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G655R|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G679R|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G731R	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	728	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGATTAGAGGGAAACTGCAT	0.403000													67	134					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44684452	44684452	+	Silent	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:44684452T>C	ENST00000396058.1	+	5	1997	c.1830T>C	c.(1828-1830)atT>atC	p.I610I	ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Silent_p.I610I			O14709	ZN197_HUMAN	zinc finger protein 197	610					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		CAAACTTCATTGACCATAAGA	0.413000													19	43					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196812524	196812524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:196812524C>T	ENST00000346964.2	-	17	2053	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K	DLG1_ENST00000443183.1_Missense_Mutation_p.E506K|DLG1_ENST00000422288.1_Missense_Mutation_p.E571K|DLG1_ENST00000419354.1_Missense_Mutation_p.E622K|DLG1_ENST00000392382.2_Missense_Mutation_p.E589K|DLG1_ENST00000357674.4_Missense_Mutation_p.E589K|DLG1_ENST00000452595.1_Missense_Mutation_p.E506K|DLG1_ENST00000314062.3_Missense_Mutation_p.E571K|DLG1_ENST00000450955.1_Missense_Mutation_p.E589K|DLG1_ENST00000448528.2_Missense_Mutation_p.E622K	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	622	SH3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TGCCACCATTCATCATCAGAA	0.453000													70	106					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891893	44891893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:44891893C>T	ENST00000330997.4	-	4	578	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.E172K|ZNF285_ENST00000591679.1_Missense_Mutation_p.E179K	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AATTTCTCTTCCATGTAAATT	0.478000													41	67					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11944273	11944273	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:11944273A>T	ENST00000339865.5	+	10	1780	c.1017A>T	c.(1015-1017)aaA>aaT	p.K339N	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.K407N|USP47_ENST00000399455.2_Missense_Mutation_p.K427N	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	427					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTATTAAGAAATCTCCTCAGA	0.333000													17	16					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10671070	10671070	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:10671070G>A	ENST00000312962.6	-	9	755	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	KRI1_ENST00000361821.5_Silent_p.L242L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	246	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TAATCCCGCAGGAACCGCTCC	0.547000													17	90					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43738698	43738698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:43738698C>T	ENST00000263801.3	-	14	3164	c.2912G>A	c.(2911-2913)gGa>gAa	p.G971E	TP53BP1_ENST00000382039.3_Missense_Mutation_p.G976E|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G976E|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G976E	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	971					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATCCCCTTTTCCACTCCCAAG	0.468000								Other conserved DNA damage response genes					26	118					0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88091750	88091750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:88091750G>A	ENST00000273963.5	-	7	1567	c.1226C>T	c.(1225-1227)gCt>gTt	p.A409V	KLHL8_ENST00000545252.1_Missense_Mutation_p.A58V|KLHL8_ENST00000498875.2_Missense_Mutation_p.A333V|KLHL8_ENST00000512111.1_Missense_Mutation_p.A409V|KLHL8_ENST00000425278.2_Missense_Mutation_p.A226V	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	409										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TCCTAAGGAAGCCAAGGCAAT	0.368000													13	52					0	0	1	0	0
SIDT2	51092	broad.mit.edu	37	11	117063026	117063026	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:117063026C>T	ENST00000324225.4	+	20	2460	c.1929C>T	c.(1927-1929)atC>atT	p.I643I	SIDT2_ENST00000431081.2_Silent_p.I640I	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	643						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTCACATCATCGCCACCCTGC	0.637000													62	106					0	0	1	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122334753	122334753	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:122334753T>A	ENST00000398250.1	+	6	908	c.556T>A	c.(556-558)Ttg>Atg	p.L186M	PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.L186M|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.L123M|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.L176M	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	186					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CATCCTGCCCTTGTACTGCGC	0.612000													32	119					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857538	9857538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:9857538C>T	ENST00000396573.2	-	14	4172	c.3863G>A	c.(3862-3864)cGt>cAt	p.R1288H	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1288H|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1288H	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1288					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGAATGCTGACGGCTAATCCT	0.537000													16	72					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177056375	177056375	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:177056375G>A	ENST00000393643.2	+	8	1467	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V	WDR17_ENST00000507824.2_Silent_p.V412V|WDR17_ENST00000508596.1_Silent_p.V405V|WDR17_ENST00000280190.4_Silent_p.V429V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	429										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TAACAGCAGTGTACACATCCC	0.358000													26	88					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47456639	47456639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:47456639C>T	ENST00000265565.5	-	19	3500	c.3088G>A	c.(3088-3090)Gat>Aat	p.D1030N	SCAP_ENST00000441517.2_Missense_Mutation_p.D774N|SCAP_ENST00000545718.1_Missense_Mutation_p.D637N	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1030	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	p.D1030H(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAGAAGAAATCAAGGGAACCG	0.622000													17	30					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47533950	47533950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:47533950C>T	ENST00000300527.4	+	5	868	c.764C>T	c.(763-765)cCt>cTt	p.P255L	COL6A2_ENST00000310645.5_Missense_Mutation_p.P255L|COL6A2_ENST00000397763.1_Missense_Mutation_p.P255L|COL6A2_ENST00000357838.4_Missense_Mutation_p.P255L|COL6A2_ENST00000409416.1_Missense_Mutation_p.P255L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	255	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGGAAATCCCTGGGCCCTCT	0.562000													11	72					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149518985	149518985	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:149518985C>T	ENST00000378016.2	+	0	12789							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTCCTGGTCCGACTGCCCTG	0.677000													3	14					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177133676	177133676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:177133676G>A	ENST00000367654.2	-	1	150	c.137C>T	c.(136-138)cCc>cTc	p.P46L	ASTN1_ENST00000367657.3_Missense_Mutation_p.P46L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.P46L|ASTN1_ENST00000361833.2_Missense_Mutation_p.P46L			O14525	ASTN1_HUMAN	astrotactin 1	46					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCGCAGGAAGGGCAGTGCCGA	0.662000													24	46					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970904	151970904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:151970904C>T	ENST00000355193.2	-	7	1116	c.898G>A	c.(898-900)Gag>Aag	p.E300K	KMT2C_ENST00000262189.6_Missense_Mutation_p.E300K					lysine (K)-specific methyltransferase 2C																		GTACATTTCTCTTCACAGCAT	0.423000													5	158					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180348074	180348074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:180348074G>A	ENST00000410066.1	-	6	1198	c.595C>T	c.(595-597)Cct>Tct	p.P199S	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000336917.5_Missense_Mutation_p.P97S|ZNF385B_ENST00000409692.1_Missense_Mutation_p.P97S|ZNF385B_ENST00000409343.1_Missense_Mutation_p.P123S	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	199						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TCCTTGGAAGGAACCATTTTG	0.458000													11	78					0	0	1	0	0
ALG14	199857	broad.mit.edu	37	1	95538376	95538376	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:95538376G>A	ENST00000370205.4	-	1	125	c.79C>T	c.(79-81)Cgt>Tgt	p.R27C	ALG14_ENST00000495856.1_5'UTR	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	27					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		TCCATGGAACGAAGCACTACC	0.572000													59	98					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9172244	9172244	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:9172244G>A	ENST00000328194.3	-	14	2909	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S	DENND5A_ENST00000530044.1_Silent_p.S863S|DENND5A_ENST00000527700.1_Silent_p.S206S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	863	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTGAATCAGGGAGATCCTCA	0.433000													29	121					0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99387499	99387499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:99387499C>T	ENST00000370188.3	-	4	1097	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	LPPR5_ENST00000263177.4_Missense_Mutation_p.R246Q	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		246						integral to membrane	hydrolase activity										CCAATGATTTCGATATTCTGC	0.363000													46	87					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679413	100679413	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:100679413C>T	ENST00000306151.4	+	3	4780	c.4716C>T	c.(4714-4716)agC>agT	p.S1572S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1572	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGAAGGAAGCACTCCACTAA	0.493000													80	391					0	0	1	0	0
MSTO1	55154	broad.mit.edu	37	1	155717531	155717531	+	Silent	SNP	T	T	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:155717531T>G	ENST00000452804.2	+	7	799	c.738T>G	c.(736-738)ctT>ctG	p.L246L	MSTO1_ENST00000538143.1_Intron			Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	225					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CTAACTATCTTTCGTCACTCA	0.557000													28	54					0	0	1	0	0
CD37	951	broad.mit.edu	37	19	49842093	49842093	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:49842093A>G	ENST00000535669.2	+	6	698	c.584A>G	c.(583-585)aAg>aGg	p.K195R	CD37_ENST00000598095.1_Missense_Mutation_p.K127R|CD37_ENST00000426897.2_Missense_Mutation_p.K127R|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000323906.4_Missense_Mutation_p.K195R			P11049	CD37_HUMAN	CD37 molecule	195						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		ATCCTAGATAAGGTGATCTTG	0.602000													25	155					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125154655	125154655	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:125154655G>A	ENST00000362012.2	+	11	1637	c.1632G>A	c.(1630-1632)tgG>tgA	p.W544*	PTGS1_ENST00000540753.1_Nonsense_Mutation_p.W482*|PTGS1_ENST00000223423.4_Nonsense_Mutation_p.W507*|PTGS1_ENST00000373698.5_Nonsense_Mutation_p.W435*	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	544					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CGGAGTACTGGAAGCCGAGCA	0.527000													50	56					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37565202	37565202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:37565202G>A	ENST00000300651.6	-	17	3495	c.3272C>T	c.(3271-3273)tCc>tTc	p.S1091F	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1091	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCTGCCTGAGGAAGACACAGA	0.478000										HNSCC(31;0.082)			27	85					0	0	1	0	0
ELAVL1	1994	broad.mit.edu	37	19	8056644	8056644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:8056644C>T	ENST00000407627.2	-	2	185	c.56G>A	c.(55-57)aGa>aAa	p.R19K	ELAVL1_ENST00000351593.5_Missense_Mutation_p.R46K|ELAVL1_ENST00000596459.1_Missense_Mutation_p.R19K|ELAVL1_ENST00000593807.1_Missense_Mutation_p.R19K	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	19					3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CAAATTCGTTCTCCCGATGTC	0.423000													23	93					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762050	130762050	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:130762050G>A	ENST00000392429.1	+	2	2861	c.483G>A	c.(481-483)agG>agA	p.R161R	TMEM200A_ENST00000296978.3_Silent_p.R161R|TMEM200A_ENST00000545622.1_Silent_p.R161R	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	161						integral to membrane		p.R161S(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TACACATGAGGGATATCTATT	0.408000													25	44					0	0	1	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143913	142143913	+	RNA	SNP	T	T	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:142143913T>G	ENST00000390373.2	-	0	82																											GACGTGGAATTTTGGGGTCTG	0.522000													34	83					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40639346	40639346	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:40639346C>T	ENST00000343619.4	+	10	1107	c.984C>T	c.(982-984)acC>acT	p.T328T	ATP6V0A1_ENST00000585525.1_Silent_p.T285T|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000546249.1_Silent_p.T328T|ATP6V0A1_ENST00000264649.6_Silent_p.T335T|ATP6V0A1_ENST00000393829.2_Silent_p.T328T|ATP6V0A1_ENST00000537728.1_Silent_p.T285T	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	328					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GCCCTGTCACCGACCTTGACT	0.517000													29	111					0	0	1	0	0
DBN1	1627	broad.mit.edu	37	5	176886201	176886201	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:176886201T>C	ENST00000292385.5	-	12	1639	c.1030A>G	c.(1030-1032)Agc>Ggc	p.S344G	DBN1_ENST00000512501.1_Missense_Mutation_p.S74G|DBN1_ENST00000393565.1_Missense_Mutation_p.S388G|DBN1_ENST00000309007.5_Missense_Mutation_p.S342G|DBN1_ENST00000393563.4_Missense_Mutation_p.S74G	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	342					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGCGGTGCTGGAGTCAGAC	0.687000													87	75					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701770	103701770	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:103701770C>A	ENST00000245312.3	-	5	1384	c.788G>T	c.(787-789)gGg>gTg	p.G263V		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	263					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GTTCTGCATCCCCGTTTCAAA	0.423000													28	30					1.99505e-19	2.05347e-19	1	1	0
SERPINB4	6318	broad.mit.edu	37	18	61308225	61308225	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr18:61308225C>T	ENST00000341074.5	-	5	467	c.351_splice	c.e5-1	p.E118_splice	SERPINB4_ENST00000356424.6_Splice_Site_p.E118_splice	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TCTAAATATTCCTTTGAGATA	0.343000													27	11					0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762312	101762312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:101762312G>A	ENST00000334289.3	-	9	1460	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	289	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TCTTTTTTGAGACCCCGGAAT	0.363000													5	44					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50171591	50171591	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:50171591G>A	ENST00000284509.6	-	24	2904	c.2763C>T	c.(2761-2763)gcC>gcT	p.A921A	ATP8B4_ENST00000559829.1_Silent_p.A921A	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	921					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AAATCCCCATGGCTAAAACAG	0.323000													9	59					0	0	1	0	0
PARVG	64098	broad.mit.edu	37	22	44594524	44594524	+	Silent	SNP	C	C	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:44594524C>A	ENST00000422871.1	+	12	1159	c.735C>A	c.(733-735)ctC>ctA	p.L245L	PARVG_ENST00000444313.2_Silent_p.L245L|PARVG_ENST00000415224.1_Silent_p.L245L	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	245	CH 2.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TCATCTTACTCTTGCTGATTG	0.458000													35	220					5.2432e-18	5.38459e-18	1	1	0
OR8H3	390152	broad.mit.edu	37	11	55890100	55890100	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:55890100G>A	ENST00000313472.3	+	1	252	c.252G>A	c.(250-252)gcG>gcA	p.A84A		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AAACCTTAGCGAACTTACTGA	0.438000													156	371					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894575	166894575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:166894575G>A	ENST00000423058.2	-	15	2674	c.2657C>T	c.(2656-2658)tCc>tTc	p.S886F	SCN1A_ENST00000375405.3_Missense_Mutation_p.S875F|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.S886F|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.S858F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	886						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)	AGCCCCCACGGAATTGCCGAT	0.408000													33	52					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237580394	237580394	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:237580394C>T	ENST00000366574.2	+	11	1136	c.819C>T	c.(817-819)tcC>tcT	p.S273S	RYR2_ENST00000542537.1_Silent_p.S257S|RYR2_ENST00000360064.6_Silent_p.S271S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	273	MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCACGTTCCCTTTGGAGAC	0.418000													11	53					0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588678	72588678	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:72588678A>T	ENST00000392620.1	+	3	855	c.493A>T	c.(493-495)Agc>Tgc	p.S165C	C17orf77_ENST00000328023.2_Missense_Mutation_p.S165C	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	165						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						AGCATTGAGGAGCTGCGGGAT	0.582000													8	16					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109848541	109848541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:109848541G>A	ENST00000310903.5	+	13	1436	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	MYO1H_ENST00000431443.2_Missense_Mutation_p.E454K			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TGATTTGGTAGAAGAGAGACA	0.348000													7	10					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40816901	40816901	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:40816901C>G	ENST00000396617.3	-	10	1421	c.831G>C	c.(829-831)caG>caC	p.Q277H	MKL1_ENST00000407029.1_Missense_Mutation_p.Q277H|MKL1_ENST00000355630.3_Missense_Mutation_p.Q277H|MKL1_ENST00000402042.1_Missense_Mutation_p.Q227H			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	277	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGCTGCTGCTGGTTGAGGA	0.657000			T	RBM15	acute megakaryocytic leukemia								3	129					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903562	5903562	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:5903562C>T	ENST00000378961.4	+	4	976	c.772C>T	c.(772-774)Cga>Tga	p.R258*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	258						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGGCCAACCCCGAAGCCAGGA	0.587000													7	14					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235956850	235956850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:235956850C>T	ENST00000389794.3	-	11	4243	c.4069G>A	c.(4069-4071)Gag>Aag	p.E1357K	LYST_ENST00000536965.1_Missense_Mutation_p.E1357K|LYST_ENST00000389793.2_Missense_Mutation_p.E1357K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1357					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGGGTTAGCTCTTCTGAACAT	0.313000													19	96					0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96387922	96387922	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:96387922G>A	ENST00000261208.3	-	5	725	c.357C>T	c.(355-357)gaC>gaT	p.D119D	HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Silent_p.D119D	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	119					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TGGTCAGACGGTCTCCATCTA	0.483000													54	247					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139791802	139791802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:139791802C>T	ENST00000303045.6	-	14	2100	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K	COL22A1_ENST00000435777.1_Missense_Mutation_p.E552K	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	552	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTCCTGGCTCCCCCTGAACA	0.622000										HNSCC(7;0.00092)			20	97					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159468	18159468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:18159468C>T	ENST00000396275.2	+	3	1080	c.719C>T	c.(718-720)tCc>tTc	p.S240F		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	240						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCCCTGTTTTCCAGGATCCAC	0.517000													21	46					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672661	141672661	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:141672661T>A	ENST00000547270.1	-	1	912	c.829A>T	c.(829-831)Ata>Tta	p.I277L		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	277					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					ATCACCCCTATTTTGTCGCGC	0.498000													40	89					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141356300	141356300	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:141356300G>T	ENST00000389484.3	-	43	8065	c.7094C>A	c.(7093-7095)cCa>cAa	p.P2365Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2365					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGTCCATTTGGAGTGAGTAT	0.423000										TSP Lung(27;0.18)			10	101					7.03913e-09	7.18054e-09	1	1	0
KIAA0226	9711	broad.mit.edu	37	3	197404363	197404363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:197404363C>T	ENST00000273582.5	-	18	2890	c.2345G>A	c.(2344-2346)cGa>cAa	p.R782Q	KIAA0226_ENST00000296343.5_Missense_Mutation_p.R827Q|KIAA0226_ENST00000389665.5_Missense_Mutation_p.R852Q	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	827					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTTGGCCAGTCGGCAAGTCTT	0.547000													21	75					0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53853390	53853390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:53853390C>T	ENST00000331251.3	+	1	2400	c.923C>T	c.(922-924)gCc>gTc	p.A308V		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	308					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TTCCTCTACGCCTTCCTGGAC	0.652000													6	52					0	0	1	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309717	89309717	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:89309717C>T	ENST00000493819.1	-	0	170																											GACTCTGTCTCCTACAGATGC	0.463000													49	190					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701930	179701930	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:179701930T>G	ENST00000420890.2	-	23	4133	c.4016A>C	c.(4015-4017)cAg>cCg	p.Q1339P	CCDC141_ENST00000295723.5_Missense_Mutation_p.Q764P|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	764							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAAACCACCCTGAGCCTGAGG	0.478000													23	47					0	0	1	0	0
SHMT2	6472	broad.mit.edu	37	12	57627354	57627354	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:57627354C>T	ENST00000328923.3	+	9	1484	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	SHMT2_ENST00000414700.3_Silent_p.T323T|SHMT2_ENST00000553474.1_Silent_p.T323T|SHMT2_ENST00000557487.1_Silent_p.T334T|SHMT2_ENST00000393827.4_Silent_p.T248T|SHMT2_ENST00000449049.3_Silent_p.T323T	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	344						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AGGCCTGCACCCCCATGTTCC	0.602000													19	80					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72400636	72400636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:72400636G>A	ENST00000395270.1	+	8	1508	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	POM121_ENST00000358357.3_Missense_Mutation_p.R156Q|POM121_ENST00000446813.1_Missense_Mutation_p.R156Q|POM121_ENST00000257622.4_Missense_Mutation_p.R156Q|POM121_ENST00000434423.2_Missense_Mutation_p.R421Q	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	421	Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGCTCCACTCGAGGCATCTCA	0.517000													108	234					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74631651	74631651	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:74631651T>G	ENST00000358632.4	-	7	1384	c.689A>C	c.(688-690)cAc>cCc	p.H230P	CYP11A1_ENST00000268053.6_Missense_Mutation_p.H388P|CYP11A1_ENST00000419019.2_Missense_Mutation_p.H230P	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	388					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GGAGATGGGGTGAAGTCTGCG	0.582000													31	45					0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54140172	54140172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:54140172C>T	ENST00000376650.1	+	3	557	c.506C>T	c.(505-507)tCc>tTc	p.S169F		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	169						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		ATTTTGGAATCCCAAGTTTGC	0.438000													40	124					0	0	1	0	0
PDSS2	57107	broad.mit.edu	37	6	107531744	107531744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:107531744C>T	ENST00000369037.4	-	6	1184	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	PDSS2_ENST00000453874.2_Intron	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	303					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		CTGGTCTTTTCTTTAATAAAA	0.318000													8	17					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49692808	49692808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:49692808C>T	ENST00000296452.4	+	5	5933	c.5819C>T	c.(5818-5820)cCc>cTc	p.P1940L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1940					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCAGCAGCCCCTTCTATGGT	0.682000													9	39					0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75517507	75517507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:75517507C>T	ENST00000318622.4	+	5	1141	c.512C>T	c.(511-513)cCa>cTa	p.P171L	RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000428119.1_Missense_Mutation_p.P171L|RHBDD2_ENST00000006777.6_Missense_Mutation_p.P312L	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	312						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						CACTTTGGTCCAAACCCCACC	0.657000													105	231					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73834169	73834169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:73834169G>A	ENST00000334126.7	-	8	1455	c.1229C>T	c.(1228-1230)tCc>tTc	p.S410F	C2CD3_ENST00000313663.7_Missense_Mutation_p.S410F			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	410						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATTGCCTTGGGATAATTCAGC	0.423000													17	41					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31503135	31503135	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:31503135G>A	ENST00000453105.2	-	5	789	c.603C>T	c.(601-603)acC>acT	p.T201T	DDX39B_ENST00000415382.2_Intron|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B_ENST00000396172.1_Intron|DDX39B_ENST00000417556.2_Intron|DDX39B_ENST00000376177.2_Intron|DDX39B_ENST00000458640.1_Intron			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	0	Helicase ATP-binding.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						aaggtagaagggTATTTACAT	0.557000													45	62					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167334138	167334138	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:167334138C>T	ENST00000409855.1	-	2	195	c.69G>A	c.(67-69)caG>caA	p.Q23Q		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	23					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TAGCAATATGCTGTTTTATAA	0.358000													3	11					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28137059	28137059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:28137059C>T	ENST00000304658.5	-	13	2217	c.1717G>A	c.(1717-1719)Ggg>Agg	p.G573R	XPO6_ENST00000565698.1_Missense_Mutation_p.G559R	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	573					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AACACATCCCCGATAAAGTAC	0.577000													62	120					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203512	84203512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:84203512G>A	ENST00000378553.5	+	8	1202	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	DNAAF1_ENST00000334315.5_Missense_Mutation_p.E360K|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	360					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CGCCAGTGCGGAAGGCAAGGA	0.532000													12	74					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52966383	52966383	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:52966383C>T	ENST00000549343.1	-	2	578	c.540G>A	c.(538-540)ctG>ctA	p.L180L	KRT74_ENST00000305620.2_Silent_p.L180L			Q7RTS7	K2C74_HUMAN	keratin 74	180	Linker 1.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGCAGTTGTTCAGGTCCAGCT	0.557000													32	58					0	0	1	0	0
LRRC59	55379	broad.mit.edu	37	17	48460400	48460400	+	Silent	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:48460400T>A	ENST00000225972.7	-	7	1108	c.873A>T	c.(871-873)ctA>ctT	p.L291L		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	291						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CATGGCGGCGTAGACCCTGGA	0.612000													13	50					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216251550	216251550	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:216251550G>A	ENST00000354785.4	-	28	4843	c.4474C>T	c.(4474-4476)Cct>Tct	p.P1492S	FN1_ENST00000357867.4_Missense_Mutation_p.P1401S|FN1_ENST00000357009.2_Missense_Mutation_p.P1401S|FN1_ENST00000356005.4_Missense_Mutation_p.P1401S|FN1_ENST00000346544.3_Missense_Mutation_p.P1401S|FN1_ENST00000345488.5_Missense_Mutation_p.P1401S|FN1_ENST00000336916.4_Missense_Mutation_p.P1401S|FN1_ENST00000323926.6_Missense_Mutation_p.P1492S|FN1_ENST00000359671.1_Missense_Mutation_p.P1401S|FN1_ENST00000446046.1_Missense_Mutation_p.P1401S|FN1_ENST00000443816.1_Missense_Mutation_p.P1401S|FN1_ENST00000432072.2_Missense_Mutation_p.P1492S|FN1_ENST00000421182.1_Missense_Mutation_p.P1401S			P02751	FINC_HUMAN	fibronectin 1	1491	Cell-attachment.|Fibronectin type-III 10.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTTCTCGAGGTCTCCCACTG	0.537000													27	47					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146700595	146700595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:146700595G>A	ENST00000508784.1	-	9	2679	c.2452C>T	c.(2452-2454)Ccc>Tcc	p.P818S	ZNF827_ENST00000379448.4_Missense_Mutation_p.P818S|ZNF827_ENST00000513320.1_Missense_Mutation_p.P468S			Q17R98	ZN827_HUMAN	zinc finger protein 827	818					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACGTCACAGGGAAAAAGCTGG	0.493000													19	50					0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58152747	58152747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:58152747C>T	ENST00000544273.1	+	5	1256	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ZNF211_ENST00000391703.3_Missense_Mutation_p.S237F|ZNF211_ENST00000254182.7_Missense_Mutation_p.S289F|ZNF211_ENST00000299871.5_Missense_Mutation_p.S363F|ZNF211_ENST00000240731.4_Missense_Mutation_p.S311F|ZNF211_ENST00000541801.1_Missense_Mutation_p.S289F|ZNF211_ENST00000347302.3_Missense_Mutation_p.S298F|ZNF211_ENST00000420680.1_Missense_Mutation_p.S302F			Q13398	ZN211_HUMAN	zinc finger protein 211	298						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACCTACTACTCCAGTTTCATT	0.418000													17	72					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70064197	70064197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:70064197C>T	ENST00000370598.1	+	27	4353	c.3532C>T	c.(3532-3534)Cct>Tct	p.P1178S	BAI3_ENST00000238918.8_Missense_Mutation_p.P384S|BAI3_ENST00000546190.1_Missense_Mutation_p.P142S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1178					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGTTCGTTTCCTAATGGGCA	0.383000													67	65					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105405171	105405171	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:105405171G>A	ENST00000351513.2	-	8	1416	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	428					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCATGCCCTCGAAAATGTTGA	0.448000													27	131					0	0	1	0	0
PDCL2	132954	broad.mit.edu	37	4	56448367	56448367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:56448367C>T	ENST00000295645.4	-	2	146	c.44G>A	c.(43-45)aGa>aAa	p.R15K		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	15										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			GCCGAAATCTCTTAAAATGTC	0.318000													10	58					0	0	1	0	0
GBP1P1	400759	broad.mit.edu	37	1	89889966	89889966	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:89889966C>T	ENST00000513638.1	+	0	707					NR_003133.2																						CGACAGGGTCCAGTTGCTGGA	0.453000													48	198					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121342188	121342188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:121342188G>A	ENST00000338040.4	+	3	2326	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	638					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)		AGTCCACAGAGAGGTAAGTAA	0.408000													5	30					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84502638	84502638	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:84502638C>T	ENST00000360700.4	+	3	946	c.60C>T	c.(58-60)acC>acT	p.T20T	ZNF711_ENST00000395402.1_5'UTR|ZNF711_ENST00000276123.3_Silent_p.T20T|ZNF711_ENST00000373165.3_Silent_p.T20T			Q9Y462	ZN711_HUMAN	zinc finger protein 711	20					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGGCCCATACCATGATTATGC	0.363000													34	173					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935544	30935544	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:30935544T>C	ENST00000355537.3	+	2	1222	c.1075T>C	c.(1075-1077)Ttc>Ctc	p.F359L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCAGGCGTGGTTCCTCAAGGG	0.647000													50	193					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183885816	183885816	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:183885816C>T	ENST00000313143.3	+	13	1709	c.1461C>T	c.(1459-1461)tcC>tcT	p.S487S	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Silent_p.S470S	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	487	DEP.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	p.S487S(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			TCACCTTCTCCGAGCAGTGCT	0.582000													79	136					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93067372	93067372	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:93067372C>T	ENST00000359558.2	-	13	1331	c.1032_splice	c.e13+1	p.V344_splice	CALCR_ENST00000394441.1_Splice_Site_p.V310_splice|CALCR_ENST00000421592.1_Splice_Site_p.V326_splice|CALCR_ENST00000360249.4_Splice_Site_p.V326_splice|CALCR_ENST00000426151.1_Splice_Site_p.V310_splice	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	326					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TAATTCTCACCACAAGTGCCG	0.348000													19	56					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405832	1405832	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:1405832G>A	ENST00000381312.1	-	3	793	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	156	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCGCTACCGCGAAGACCGGGG	0.692000													9	27					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99932099	99932099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:99932099C>T	ENST00000524871.1	+	10	1426	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	CNTN5_ENST00000418526.2_Missense_Mutation_p.S305F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S379F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S379F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S379F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	379	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGAAAAAATTCCTTTCGTGGA	0.408000													22	41					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23233420	23233420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:23233420G>A	ENST00000400191.3	+	11	2124	c.2106G>A	c.(2104-2106)atG>atA	p.M702I	EPHB2_ENST00000374627.1_Missense_Mutation_p.M697I|EPHB2_ENST00000374630.3_Missense_Mutation_p.M702I|EPHB2_ENST00000374632.3_Missense_Mutation_p.M703I	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	702	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCGAGTTCATGGAGAATGGCT	0.567000													5	43					0	0	1	0	0
SERPINE3	647174	broad.mit.edu	37	13	51918395	51918395	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:51918395G>A	ENST00000524365.1	+	5	889	c.264G>A	c.(262-264)agG>agA	p.R88R	SERPINE3_ENST00000400389.4_Silent_p.R88R|SERPINE3_ENST00000521255.1_Silent_p.R88R			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	88					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CAGACAAAAGGGTGAAAGATT	0.493000													16	10					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83333150	83333150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:83333150C>T	ENST00000261722.3	-	18	2380	c.2173G>A	c.(2173-2175)Gag>Aag	p.E725K	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.E744K|AP3B2_ENST00000535348.1_Missense_Mutation_p.E693K	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	725	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCCTCATCCTCATCCTGGTCT	0.567000													31	74					0	0	1	0	0
NGFRAP1	27018	broad.mit.edu	37	X	102632525	102632525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:102632525C>T	ENST00000361298.4	+	3	441	c.76C>T	c.(76-78)Cga>Tga	p.R26*	NGFRAP1_ENST00000299872.7_Nonsense_Mutation_p.R36*|NGFRAP1_ENST00000372645.3_Nonsense_Mutation_p.R36*|NGFRAP1_ENST00000372635.1_Nonsense_Mutation_p.R36*|NGFRAP1_ENST00000372634.1_Nonsense_Mutation_p.R26*	NM_206915.1|NM_206917.1	NP_996798.1|NP_996800.1	Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	36					apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TGCAGGAAATCGACGGGGACA	0.522000													58	258					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201195016	201195016	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:201195016G>A	ENST00000335211.4	+	22	10681	c.10551G>A	c.(10549-10551)gaG>gaA	p.E3517E	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGACGGCCGAGTGGGAACCCT	0.687000													9	37					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869563	151869563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:151869563G>A	ENST00000329342.5	+	3	478	c.253G>A	c.(253-255)Gag>Aag	p.E85K		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	85							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCAATCCTATGAGGACTCCAG	0.587000													19	57					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10675265	10675265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr18:10675265G>A	ENST00000302079.6	-	49	7573	c.7574C>T	c.(7573-7575)cCa>cTa	p.P2525L	PIEZO2_ENST00000538948.1_Missense_Mutation_p.P545L|PIEZO2_ENST00000580640.1_Missense_Mutation_p.P2613L|PIEZO2_ENST00000285141.4_Missense_Mutation_p.P380L|PIEZO2_ENST00000503781.3_Missense_Mutation_p.P2588L|PIEZO2_ENST00000581680.1_5'UTR			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2588						integral to membrane	ion channel activity										CACATAATATGGATAAATCTT	0.279000													17	22					0	0	1	0	0
CCL23	6368	broad.mit.edu	37	17	34344887	34344887	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:34344887G>A	ENST00000293280.2	-	1	118	c.48C>T	c.(46-48)gcC>gcT	p.A16A	CCL23_ENST00000591423.1_Silent_p.A16A	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	16				MLVTALGSQARVTKDAETEFMMSKLPLENPVLL -> HAFL LPLVPGPGHKRCRDRVHECQSFHWKIQYFW (in Ref. 1).	cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	GGGATCCAAGGGCAGTAACAA	0.587000													19	46					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802491	185802491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:185802491C>T	ENST00000302277.6	+	4	2962	c.2368C>T	c.(2368-2370)Cat>Tat	p.H790Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	790						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCGACAGAATCATTTACCAGA	0.388000													26	31					0	0	1	0	0
TNFRSF18	8784	broad.mit.edu	37	1	1139306	1139306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:1139306G>A	ENST00000379268.2	-	5	763	c.644C>T	c.(643-645)gCc>gTc	p.A215V	TNFRSF18_ENST00000328596.6_Missense_Mutation_p.P145S|TNFRSF18_ENST00000486728.1_Missense_Mutation_p.A143V|TNFRSF18_ENST00000379265.5_Missense_Mutation_p.A208V	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	215					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGCTTCTGGCGTCTTCGGT	0.706000													17	17					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82456275	82456275	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:82456275A>G	ENST00000370728.1	+	25	4471	c.3826A>G	c.(3826-3828)Agc>Ggc	p.S1276G	LPHN2_ENST00000359929.3_Missense_Mutation_p.S1220G|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.S1278G|LPHN2_ENST00000370725.1_Missense_Mutation_p.S1291G|LPHN2_ENST00000370717.2_Missense_Mutation_p.S1291G|LPHN2_ENST00000370727.1_Missense_Mutation_p.S1248G|LPHN2_ENST00000271029.4_Missense_Mutation_p.S1248G|LPHN2_ENST00000370721.1_Missense_Mutation_p.S1201G|LPHN2_ENST00000370730.1_Missense_Mutation_p.S1233G|LPHN2_ENST00000335786.5_Missense_Mutation_p.S1233G|LPHN2_ENST00000319517.6_Missense_Mutation_p.S1220G|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370723.1_Missense_Mutation_p.S1278G			O95490	LPHN2_HUMAN	latrophilin 2	1276					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACGGGGCAGCAGCAAGACTCA	0.448000													34	66					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7636159	7636159	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:7636159C>T	ENST00000359156.4	-	12	3094	c.2892G>A	c.(2890-2892)caG>caA	p.Q964Q	CD163_ENST00000396620.3_Silent_p.Q997Q|CD163_ENST00000432237.2_Silent_p.Q964Q|CD163_ENST00000541972.1_Silent_p.Q952Q|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	964	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GACACACCACCTGAGCATCGT	0.517000													36	73					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118373240	118373240	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:118373240G>A	ENST00000534358.1	+	27	6656	c.6633G>A	c.(6631-6633)cgG>cgA	p.R2211R	KMT2A_ENST00000354520.4_Silent_p.R2170R|KMT2A_ENST00000389506.5_Silent_p.R2208R	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CCAAACTCCGGATAATGTCTC	0.488000													20	48					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64518921	64518921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:64518921C>T	ENST00000498707.1	-	38	5981	c.5639G>A	c.(5638-5640)gGa>gAa	p.G1880E	ADAMTS9_ENST00000467257.1_5'UTR|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G1852E	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1880	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAAGCCGGTTCCATAAAGGTT	0.428000													17	44					0	0	1	0	0
RALA	5898	broad.mit.edu	37	7	39729990	39729990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:39729990G>A	ENST00000005257.2	+	3	504	c.124G>A	c.(124-126)Gac>Aac	p.D42N	RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	42					actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GTTTGTGGAGGACTATGAGCC	0.368000													9	84					0	0	1	0	0
S100A7L2	645922	broad.mit.edu	37	1	153409576	153409576	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:153409576C>T	ENST00000368725.2	-	3	296	c.297G>A	c.(295-297)aaG>aaA	p.K99K		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATGCATTATCTTGTGGTGGT	0.478000													44	151					0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176963397	176963397	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:176963397G>A	ENST00000443375.2	-	5	2257	c.699C>T	c.(697-699)ctC>ctT	p.L233L	FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000514747.1_Silent_p.L346L|FAM193B_ENST00000329540.5_5'UTR			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	301										kidney(1)|large_intestine(3)	4						TCGGGGGTGGGAGGAGAGGCC	0.592000													14	14					0	0	1	0	0
NAT1	9	broad.mit.edu	37	8	18080296	18080296	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:18080296A>G	ENST00000539092.1	+	5	1431	c.740A>G	c.(739-741)aAg>aGg	p.K247R	NAT1_ENST00000518029.1_Missense_Mutation_p.K247R|NAT1_ENST00000520546.1_Missense_Mutation_p.K247R|NAT1_ENST00000517492.1_Missense_Mutation_p.K247R|NAT1_ENST00000535084.1_Missense_Mutation_p.K247R|NAT1_ENST00000541942.1_Missense_Mutation_p.K247R|NAT1_ENST00000307719.4_Missense_Mutation_p.K247R|NAT1_ENST00000545197.1_Missense_Mutation_p.K309R	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	247					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		TTCAATTATAAGGACAATACA	0.378000													10	25					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149474717	149474717	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:149474717C>T	ENST00000378016.2	+	0	516							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTCTCCAGCCCTCCTGCAGC	0.672000													12	32					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254660	51254660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:51254660C>T	ENST00000404971.1	-	2	2091	c.752G>A	c.(751-753)cGc>cAc	p.R251H	NRXN1_ENST00000406859.3_Missense_Mutation_p.R251H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R251H|NRXN1_ENST00000405581.1_Missense_Mutation_p.R251H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R251H|NRXN1_ENST00000406316.2_Missense_Mutation_p.R251H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R251H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	251	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTCCTTGCCGCGGAAGCCGGT	0.746000													21	61					0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42734255	42734255	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:42734255C>T	ENST00000441594.1	-	12	1764	c.1503G>A	c.(1501-1503)gaG>gaA	p.E501E	HHATL_ENST00000310417.5_Silent_p.E501E	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	501					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		ACTCCGGCTTCTCTTTGTCCT	0.552000													10	38					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10916422	10916422	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:10916422G>A	ENST00000298232.7	-	19	1537	c.1170C>T	c.(1168-1170)ctC>ctT	p.L390L	TPTE_ENST00000361285.4_Silent_p.L408L|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Silent_p.L370L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	408	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCTTGGAGGGAGATTCCAGT	0.363000													6	115					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792332	143792332	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:143792332C>T	ENST00000408949.2	+	1	192	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	44					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)					ATGGGATTATCCTGGGGCTCA	0.498000													48	116					0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	920851	920851	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:920851C>T	ENST00000262301.11	-	8	1128	c.1110G>A	c.(1108-1110)tcG>tcA	p.S370S	LMF1_ENST00000399843.2_Silent_p.S370S|LMF1_ENST00000543238.1_Silent_p.S133S|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000568897.1_Silent_p.S153S	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	370						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GGACGCCCAGCGAGACGTTGG	0.657000													4	28					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110418775	110418775	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:110418775G>T	ENST00000360185.4	-	7	864	c.700C>A	c.(700-702)Ctc>Atc	p.L234I	GIT2_ENST00000356259.4_Missense_Mutation_p.L234I|GIT2_ENST00000343646.5_Missense_Mutation_p.L234I|GIT2_ENST00000338373.5_Missense_Mutation_p.L234I|GIT2_ENST00000320063.9_Missense_Mutation_p.L234I|GIT2_ENST00000355312.3_Missense_Mutation_p.L234I|GIT2_ENST00000457474.2_Missense_Mutation_p.L234I|GIT2_ENST00000354574.4_Missense_Mutation_p.L234I|GIT2_ENST00000361006.5_Missense_Mutation_p.L234I|TCHP_ENST00000550780.1_3'UTR|GIT2_ENST00000553118.1_Missense_Mutation_p.L234I|GIT2_ENST00000547815.1_Missense_Mutation_p.L234I|GIT2_ENST00000551209.1_Missense_Mutation_p.L234I			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	234					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CTGCCACAGAGATAGAAGGCT	0.473000													143	255					8.37379e-70	8.68745e-70	1	1	0
APOB	338	broad.mit.edu	37	2	21229366	21229366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:21229366C>T	ENST00000233242.1	-	26	10501	c.10374G>A	c.(10372-10374)atG>atA	p.M3458I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3458	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACTTAAATTCCATGGAGGAAG	0.388000													59	140					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32172160	32172160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:32172160G>A	ENST00000375023.3	-	19	3010	c.2872C>T	c.(2872-2874)Cca>Tca	p.P958S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	958	EGF-like 24.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCGTAGCCTGGGGCACACTGC	0.542000													55	37					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130318952	130318952	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:130318952C>T	ENST00000299164.2	+	1	84	c.84C>T	c.(82-84)ccC>ccT	p.P28P		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	28					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TAGTCGTTCCCATCCGACTGG	0.637000													16	31					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169367	138169367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:138169367G>A	ENST00000409968.1	+	14	3062	c.2884G>A	c.(2884-2886)Ggc>Agc	p.G962S	THSD7B_ENST00000413152.2_Missense_Mutation_p.G931S|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.G962S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATGTGGAGAAGGCCTGCGCTT	0.512000													30	75					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3097837	3097837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:3097837C>T	ENST00000397461.1	+	24	3398	c.3014C>T	c.(3013-3015)tCg>tTg	p.S1005L	CNTN4_ENST00000448906.2_Missense_Mutation_p.S677L|CNTN4_ENST00000418658.1_Missense_Mutation_p.S1005L|CNTN4_ENST00000397459.2_Missense_Mutation_p.S677L|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.S1005L|CNTN4_ENST00000358480.3_Missense_Mutation_p.S786L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	1005					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.S1005L(1)|p.S677L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCTTCCACTTCGAATGCATGT	0.468000													25	65					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427357	71427357	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:71427357C>T	ENST00000373657.1	-	3	1493	c.891G>A	c.(889-891)cgG>cgA	p.R297R	ERCC6L_ENST00000334463.3_Silent_p.R420R|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	420					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AACAACAAGCCCGTGCAGACA	0.463000													21	122					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230903339	230903339	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:230903339G>A	ENST00000354537.1	+	5	671	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.E197K|CAPN9_ENST00000366666.2_Missense_Mutation_p.E134K	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	197	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CGAGGCCATGGAAGACTTCAC	0.552000													16	68					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119568000	119568000	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:119568000G>A	ENST00000313400.4	-	13	2407	c.2307C>T	c.(2305-2307)ttC>ttT	p.F769F	ASTN2_ENST00000373996.3_Silent_p.F765F|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.F718F			O75129	ASTN2_HUMAN	astrotactin 2	769						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGGTATCATTGAATTTGGAGT	0.493000													77	103					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24211322	24211322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:24211322G>A	ENST00000265769.4	+	22	2394	c.2284G>A	c.(2284-2286)Gat>Aat	p.D762N	ADAM28_ENST00000397649.3_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	762					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGTTTTCAAGGATAATCCAGT	0.368000													65	146					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110502237	110502237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:110502237G>A	ENST00000378402.5	+	60	10041	c.9937G>A	c.(9937-9939)Gat>Aat	p.D3313N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3313					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)			AGGCTTCAGGGATAGCACAGA	0.299000										HNSCC(38;0.096)			10	37					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100346857	100346857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:100346857G>A	ENST00000294724.4	+	16	2489	c.2011G>A	c.(2011-2013)Gtt>Att	p.V671I	AGL_ENST00000361522.4_Missense_Mutation_p.V654I|AGL_ENST00000361915.3_Missense_Mutation_p.V671I|AGL_ENST00000370165.3_Missense_Mutation_p.V671I|AGL_ENST00000361302.3_Missense_Mutation_p.V655I|AGL_ENST00000370163.3_Missense_Mutation_p.V671I|AGL_ENST00000370161.2_Missense_Mutation_p.V655I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	671					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GATTTCAGTGGTTTCTGAAGA	0.368000													28	104					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100853383	100853383	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:100853383G>A	ENST00000223127.3	-	15	2072	c.1674C>T	c.(1672-1674)atC>atT	p.I558I		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	558					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCTGCTCCACGATTCCTTCCC	0.637000													7	15					0	0	1	0	0
DDIT4L	115265	broad.mit.edu	37	4	101108909	101108909	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:101108909G>A	ENST00000273990.2	-	3	721	c.507C>T	c.(505-507)atC>atT	p.I169I	RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	169					negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		CTGAGCTGAGGATCAGAGTTC	0.388000													13	33					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92565007	92565007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:92565007C>T	ENST00000298047.6	+	13	9718	c.9701C>T	c.(9700-9702)cCt>cTt	p.P3234L	FAT3_ENST00000409404.2_Missense_Mutation_p.P3234L|FAT3_ENST00000525166.1_Missense_Mutation_p.P3084L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3234	Cadherin 29.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACAACCCCCCTGTGTTTGAG	0.552000										TCGA Ovarian(4;0.039)			9	25					0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48572951	48572951	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:48572951G>A	ENST00000232375.3	-	9	1093	c.981C>T	c.(979-981)atC>atT	p.I327I	PFKFB4_ENST00000545984.1_Intron|PFKFB4_ENST00000541519.1_Silent_p.I293I|PFKFB4_ENST00000536104.1_Silent_p.I316I|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000416568.1_Intron|PFKFB4_ENST00000383734.2_Silent_p.I327I	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	327	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CTACCGCATCGATCTCGTTGA	0.547000													7	29					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433558	69433558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:69433558C>T	ENST00000317746.2	-	1	687	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	215					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GCATATATATCATATTTTTTA	0.353000													65	72					0	0	1	0	0
RAB19	401409	broad.mit.edu	37	7	140111656	140111656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:140111656C>T	ENST00000275874.5	+	4	523	c.325C>T	c.(325-327)Ctt>Ttt	p.L109F	RAB19_ENST00000537763.1_Intron|RAB19_ENST00000356407.3_Intron			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	67					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TTGGACTCTCCTTCCTGTCCT	0.522000													24	55					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110453608	110453608	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:110453608G>A	ENST00000378402.5	+	34	4308	c.4204_splice	c.e34+1	p.V1402_splice		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1402	IPT/TIG 7.				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)			GAAAGATTCAGGTATCAGCCA	0.284000										HNSCC(38;0.096)			5	16					0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37618918	37618918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:37618918G>A	ENST00000337995.3	+	5	1240	c.1025G>A	c.(1024-1026)aGg>aAg	p.R342K	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.R342K	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAATGTGGAAGGGCCTTTATT	0.408000													27	56					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851264	43851264	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:43851264A>G	ENST00000372769.3	+	2	1081	c.991A>G	c.(991-993)Aca>Gca	p.T331A		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	331	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAACCAGGTAACAATTCATAG	0.373000													51	76					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	48098963	48098963	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:48098963C>G	ENST00000371741.4	-	1	221	c.55G>C	c.(55-57)Gag>Cag	p.E19Q		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	19					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCCATGGGCTCGGGCGGCAGC	0.741000													4	7					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193007754	193007754	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:193007754G>A	ENST00000342358.4	-	26	3060	c.2943C>T	c.(2941-2943)tcC>tcT	p.S981S	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	981					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGGAGAAACAGGAATTCAAAA	0.433000													14	62					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254832	3254832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:3254832G>A	ENST00000304646.2	+	1	586	c.586G>A	c.(586-588)Gag>Aag	p.E196K	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						ACACCTCAATGAGGTCATAAT	0.502000													26	100					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4578571	4578571	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:4578571G>A	ENST00000301396.4	-	10	1812	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L	PELP1_ENST00000572293.1_Silent_p.L435L|PELP1_ENST00000436683.2_Silent_p.L238L|PELP1_ENST00000269230.7_Silent_p.L383L|PELP1_ENST00000574876.1_Silent_p.L385L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	385					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CCACTCACGCGAGGATGAGTG	0.602000													4	6					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9579841	9579841	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:9579841G>A	ENST00000301480.4	-	9	765	c.552C>T	c.(550-552)acC>acT	p.T184T		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTGGCCCTTTGGTTTTCAGGC	0.303000													7	5					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125109543	125109543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:125109543C>T	ENST00000522917.1	+	36	4933	c.4727C>T	c.(4726-4728)cCc>cTc	p.P1576L	FER1L6_ENST00000399018.1_Missense_Mutation_p.P1576L|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1576						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GACATGTTTCCCAAGGATATG	0.507000													17	125					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:100349878C>T	ENST00000542585.1	+	0	2298				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_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		p.P717L(2)		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)			CCAGAAAAACCCACCATCCCC	0.507000													3	96					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225639827	225639827	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:225639827G>A	ENST00000409592.3	-	52	5903	c.5790C>T	c.(5788-5790)aaC>aaT	p.N1930N	DOCK10_ENST00000258390.7_Silent_p.N1936N			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1936	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AATCCTTGGGGTTTACCTGTG	0.507000													13	30					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14849277	14849277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:14849277C>T	ENST00000261170.3	-	1	242	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	36					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACGCTGATTTCATAGCTGCCA	0.532000													15	20					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17331925	17331925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:17331925G>A	ENST00000452699.1	-	3	421	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	ATP13A2_ENST00000326735.8_Missense_Mutation_p.R78W|ATP13A2_ENST00000341676.5_Missense_Mutation_p.R78W	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	78					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TTGCAGGGCCGGAGCCGCAGC	0.607000													11	14					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102632511	102632511	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:102632511A>T	ENST00000332549.3	+	4	740	c.511A>T	c.(511-513)Aag>Tag	p.K171*	IL1R2_ENST00000393414.2_Nonsense_Mutation_p.K171*|IL1R2_ENST00000441002.1_Nonsense_Mutation_p.K171*	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	171	Ig-like C2-type 2.			K -> R (in Ref. 2; AAD00242).	immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TCAATGGTACAAGGTACGGCT	0.363000													8	53					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64056676	64056676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:64056676C>T	ENST00000411458.1	+	9	1295	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	GPR137_ENST00000438980.2_3'UTR|GPR137_ENST00000313074.3_Missense_Mutation_p.P365S|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000539851.1_3'UTR	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	365						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGATCCCCCTCCCTCCCCCAC	0.647000													60	139					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84108201	84108201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:84108201C>T	ENST00000369705.3	-	3	363	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	ME1_ENST00000543031.1_Missense_Mutation_p.E8K|ME1_ENST00000541327.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	83					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AAGAGTTTTTCATTTCTATCT	0.343000													12	14					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97215139	97215139	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:97215139T>C	ENST00000357485.3	+	3	280	c.202T>C	c.(202-204)Ttc>Ctc	p.F68L	ARID5A_ENST00000454558.2_5'UTR	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	68	ARID.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CCTCTACAAGTTCATGAAGGA	0.682000													61	122					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25770316	25770316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:25770316C>T	ENST00000377905.4	+	4	438	c.319C>T	c.(319-321)Cct>Tct	p.P107S	SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	107					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGACTGGAGTCCTGAAATCCA	0.453000													250	93					0	0	1	0	0
TAZ	6901	broad.mit.edu	37	X	153649075	153649075	+	Splice_Site	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:153649075G>T	ENST00000299328.5	+	10	1066		c.e10+1		TAZ_ENST00000498029.1_Splice_Site|TAZ_ENST00000369776.4_Splice_Site|TAZ_ENST00000351413.4_Splice_Site|TAZ_ENST00000369790.4_Splice_Site|TAZ_ENST00000350743.4_Splice_Site	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin						cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAGTCGGCTGTGAGTTTCCT	0.657000													46	56					4.63999e-43	4.80288e-43	1	1	0
CYP2A7	1549	broad.mit.edu	37	19	41388010	41388010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:41388010C>T	ENST00000301146.4	-	1	647	c.106G>A	c.(106-108)Gga>Aga	p.G36R	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.G36R	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	36						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGGGTGGGTCCCGGAGGCAGC	0.587000													24	84					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34040383	34040383	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:34040383G>A	ENST00000389232.4	+	54	8128	c.8058G>A	c.(8056-8058)gtG>gtA	p.V2686V	RYR3_ENST00000415757.3_Silent_p.V2686V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2686	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTGGACTGTGGAGAGGACCA	0.527000													19	76					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73614901	73614901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:73614901G>A	ENST00000261917.3	-	8	4526	c.3533C>T	c.(3532-3534)cCc>cTc	p.P1178L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1178					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGTCAGAGGGGGCCCCCCAGA	0.622000													5	11					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32074126	32074126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:32074126G>A	ENST00000438447.1	+	18	3302	c.2914G>A	c.(2914-2916)Gat>Aat	p.D972N	PDZD2_ENST00000282493.3_Missense_Mutation_p.D972N			O15018	PDZD2_HUMAN	PDZ domain containing 2	972					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CGATGCCAGTGATGAGGAAGA	0.612000													29	29					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233612407	233612407	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:233612407C>T	ENST00000373566.3	+	4	321	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C	GIGYF2_ENST00000409451.3_Missense_Mutation_p.R42C|GIGYF2_ENST00000409196.3_Missense_Mutation_p.R42C|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R42C|GIGYF2_ENST00000409480.1_Missense_Mutation_p.R42C|GIGYF2_ENST00000409547.1_Missense_Mutation_p.R42C			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	42					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGCAGATTATCGTTACGGCAG	0.398000													47	82					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100022	110100022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:110100022G>A	ENST00000518632.1	+	2	632	c.281G>A	c.(280-282)gGc>gAc	p.G94D	TRHR_ENST00000311762.2_Missense_Mutation_p.G94D			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	94						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TGGGTCTATGGCTATGTTGGA	0.478000													17	131					0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13940885	13940885	+	Missense_Mutation	SNP	G	G	A	rs147446446	byFrequency	TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:13940885G>A	ENST00000294489.6	+	5	1030	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	PDPN_ENST00000509009.1_Missense_Mutation_p.R149Q|PDPN_ENST00000487038.1_Missense_Mutation_p.R112Q|PDPN_ENST00000475043.1_Missense_Mutation_p.R112Q|PDPN_ENST00000513143.1_Missense_Mutation_p.R112Q|PDPN_ENST00000376057.4_Missense_Mutation_p.R230Q|PDPN_ENST00000376061.4_Missense_Mutation_p.R112Q			Q86YL7	PDPN_HUMAN	podoplanin	154					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GTGGTTATGCGAAAAATGTCG	0.418000													30	114					0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9757669	9757669	+	Silent	SNP	C	C	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:9757669C>A	ENST00000383832.3	+	14	1024	c.834C>A	c.(832-834)ctC>ctA	p.L278L	CPNE9_ENST00000383831.3_Silent_p.L278L	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	278										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TGACGCTGCTCTCCTTCTCTG	0.532000											OREG0015381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	16					8.12818e-05	8.19996e-05	1	1	0
LOC645166	645166	broad.mit.edu	37	1	148932812	148932812	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:148932812C>T	ENST00000539543.1	+	0	68					NR_027355.1																						CCAAGCTAGCCCGCCAGGCCT	0.602000													11	278					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9016488	9016488	+	Silent	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:9016488T>C	ENST00000299698.7	+	29	3781	c.3601T>C	c.(3601-3603)Ttg>Ctg	p.L1201L	A2ML1_ENST00000539547.1_Silent_p.L710L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1045						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGCATATGCATTGTTGGCCCA	0.527000													19	75					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37064712	37064712	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:37064712C>T	ENST00000282516.8	+	47	8632	c.8133C>T	c.(8131-8133)atC>atT	p.I2711I		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2711					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)			TGGATGTCATCGCTATTTGCT	0.453000													36	122					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18371810	18371810	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:18371810G>A	ENST00000441493.2	-	13	2233	c.1881C>T	c.(1879-1881)ctC>ctT	p.L627L	MICAL3_ENST00000585038.1_Silent_p.L627L|MICAL3_ENST00000207726.7_Silent_p.L627L|MICAL3_ENST00000400561.2_Silent_p.L627L|MICAL3_ENST00000429452.1_Silent_p.L627L|MICAL3_ENST00000414725.2_Silent_p.L627L|MICAL3_ENST00000383094.3_Silent_p.L627L|MICAL3_ENST00000444520.1_Silent_p.L627L	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	627						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CGCTAGAGGGGAGGGAGTCCT	0.582000											OREG0026284	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	27					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122318444	122318444	+	Silent	SNP	C	C	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:122318444C>A	ENST00000264357.5	+	1	349	c.57C>A	c.(55-57)gtC>gtA	p.V19V	GRIA3_ENST00000371251.1_Silent_p.V19V|GRIA3_ENST00000542149.1_Silent_p.V19V|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371264.3_Silent_p.V19V|GRIA3_ENST00000371256.5_Silent_p.V19V|GRIA3_ENST00000371266.1_Silent_p.V19V	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	19					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCTTTTTAGTCCTGGGGCTTT	0.577000													34	154					1.23103e-26	1.27137e-26	1	1	0
CARS	833	broad.mit.edu	37	11	3062236	3062236	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:3062236G>A	ENST00000397114.3	-	4	442	c.66C>T	c.(64-66)gtC>gtT	p.V22V	CARS_ENST00000278224.9_Intron|CARS_ENST00000397111.5_Intron|CARS_ENST00000401769.3_Intron|CARS_ENST00000380525.4_Intron|CARS-AS1_ENST00000499962.1_RNA			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	0					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ATGAAGGAATGACGATCACAA	0.423000			T	ALK	ALCL								28	70					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112785952	112785952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:112785952G>A	ENST00000295408.4	+	19	2768	c.2511G>A	c.(2509-2511)tgG>tgA	p.W837*	MERTK_ENST00000421804.2_Nonsense_Mutation_p.W837*|MERTK_ENST00000409780.1_Nonsense_Mutation_p.W661*			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	837	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACTCTTGCTGGAGAACCGATC	0.443000													27	43					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107314679	107314679	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:107314679C>T	ENST00000265715.3	+	5	710	c.486C>T	c.(484-486)ctC>ctT	p.L162L		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	162					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AACACTTTCTCGTATCCAGCA	0.458000									Pendred syndrome				56	130					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332734	22332734	+	RNA	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:22332734G>A	ENST00000558896.1	+	0	541																											CACTTTCTAGGAGCCAGTGAG	0.473000													7	80					0	0	1	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661099	113661099	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:113661099C>T	ENST00000393544.2	+	0	1147																											TGTCCCCCTTCGACCAGTCGG	0.532000													36	79					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23911333	23911333	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:23911333C>A	ENST00000382298.3	-	10	7270	c.6682G>T	c.(6682-6684)Gac>Tac	p.D2228Y	SACS_ENST00000382292.3_Missense_Mutation_p.D2228Y|SACS_ENST00000402364.1_Missense_Mutation_p.D1478Y	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2228					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCTTTCCAGTCCAAAGAAAAA	0.378000													19	17					2.37509e-13	2.42823e-13	1	1	0
VAT1L	57687	broad.mit.edu	37	16	77918628	77918628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:77918628G>A	ENST00000302536.2	+	7	1159	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	336							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GGGAGTGGTGGAAAAACTCAT	0.502000													6	13					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401153	10401153	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:10401153C>T	ENST00000226207.5	-	31	4357	c.4263G>A	c.(4261-4263)acG>acA	p.T1421T	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1421						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCCTCTGCTTCGTCTTCTCAA	0.473000													21	57					0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32481453	32481453	+	Silent	SNP	C	C	T	rs139652205		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:32481453C>T	ENST00000548411.1	+	5	2245	c.2064C>T	c.(2062-2064)atC>atT	p.I688I	BICD1_ENST00000281474.5_Silent_p.I688I	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	688	Interacts with RAB6A.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGGAGCAGATCGCCACATTGA	0.473000													25	88					0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14159826	14159826	+	Missense_Mutation	SNP	C	C	A	rs143335480		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:14159826C>A	ENST00000263379.2	+	9	1300	c.1175C>A	c.(1174-1176)aCt>aAt	p.T392N		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	392	Fibronectin type-III 2.				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						TATCGAATCACTGTGACCGCA	0.542000											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	123					5.9392e-07	6.03159e-07	1	1	0
FIBCD1	84929	broad.mit.edu	37	9	133780704	133780704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:133780704C>T	ENST00000372338.4	-	6	1285	c.1043G>A	c.(1042-1044)gGg>gAg	p.G348E	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Missense_Mutation_p.G190E|FIBCD1_ENST00000448616.1_Missense_Mutation_p.G348E	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	348	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCCGAAGCTCCCGTAGCGGGC	0.632000													10	27					0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148582539	148582539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:148582539G>A	ENST00000340855.6	-	4	657	c.448C>T	c.(448-450)Ccg>Tcg	p.P150S	IDS_ENST00000490775.1_5'UTR|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000370443.4_Missense_Mutation_p.P150S|IDS_ENST00000541269.1_5'UTR|IDS_ENST00000370441.4_Missense_Mutation_p.P150S	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	150						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAGCTATACGGAGAATCATCG	0.388000													12	103					0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120005455	120005455	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:120005455C>T	ENST00000354888.5	+	4	1197	c.693C>T	c.(691-693)ttC>ttT	p.F231F	STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Silent_p.F231F|STEAP3_ENST00000393107.2_Silent_p.F231F|STEAP3_ENST00000425223.2_Silent_p.F231F|STEAP3_ENST00000409811.1_Silent_p.F231F|STEAP3_ENST00000393106.2_Silent_p.F231F|STEAP3_ENST00000393110.2_Silent_p.F241F|STEAP3_ENST00000393108.2_Silent_p.F231F	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	231					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CCTACAACTTCGTCCGGGACG	0.637000													62	118					0	0	1	0	0
POLD3	10714	broad.mit.edu	37	11	74329801	74329801	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:74329801C>T	ENST00000263681.2	+	6	741	c.612C>T	c.(610-612)acC>acT	p.T204T	POLD3_ENST00000532497.1_Silent_p.T98T|POLD3_ENST00000527458.1_Silent_p.T165T	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	204					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CTGCTAAAACCCAAGAAACCA	0.463000													17	17					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22158151	22158151	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:22158151G>A	ENST00000374695.3	-	82	11425	c.11346C>T	c.(11344-11346)acC>acT	p.T3782T		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3782	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCACCTGGGAGGTCCCATTGA	0.647000													4	9					0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587353	36587353	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:36587353T>C	ENST00000332987.1	-	7	1236	c.814A>G	c.(814-816)Aga>Gga	p.R272G	APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.R275G			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	276					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						CCACGTGTTCTCAGTGTCTCA	0.502000													6	57					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64056677	64056677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:64056677C>T	ENST00000411458.1	+	9	1296	c.1268C>T	c.(1267-1269)cCc>cTc	p.P423L	GPR137_ENST00000438980.2_3'UTR|GPR137_ENST00000313074.3_Missense_Mutation_p.P365L|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000539851.1_3'UTR	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	365						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GATCCCCCTCCCTCCCCCACA	0.647000													63	136					0	0	1	0	0
FAR2P1	440905	broad.mit.edu	37	2	130792771	130792771	+	RNA	SNP	A	A	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:130792771A>T	ENST00000325390.3	-	0	2557					NR_026758.1																						ATCACCTGGAATTGGAATTAA	0.468000													18	28					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65366868	65366868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:65366868G>A	ENST00000309100.3	-	9	2688	c.2203C>T	c.(2203-2205)Cgc>Tgc	p.R735C	MAP3K11_ENST00000532507.1_Missense_Mutation_p.R151C|MAP3K11_ENST00000530153.1_Missense_Mutation_p.R478C	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	735	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CACTCACCGCGGGGCTCCTCC	0.687000													18	39					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120383201	120383201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:120383201C>T	ENST00000602047.1	+	16	1707	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	PCDP1_ENST00000413369.3_Missense_Mutation_p.R485C|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		485						cilium	calmodulin binding					Colorectal(110;0.196)					GAGTGCTGTTCGTGAAATGGA	0.403000													32	81					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119588973	119588973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:119588973C>T	ENST00000267260.4	+	10	1616	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	410	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ATCCCCAAATCCCAGGGCTTC	0.572000													47	100					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142609655	142609655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:142609655C>T	ENST00000265310.1	-	13	2129	c.1781G>A	c.(1780-1782)aGg>aAg	p.R594K		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	594					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CACCTGGGCCCTCCAGAGCTC	0.498000													40	92					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958804	121958804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:121958804C>T	ENST00000379692.4	-	4	848	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	108										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCAAGAGGTTCCAGATCACCT	0.413000													10	36					0	0	1	0	0
HN1L	90861	broad.mit.edu	37	16	1741881	1741881	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:1741881C>T	ENST00000248098.3	+	3	288	c.231C>T	c.(229-231)ccC>ccT	p.P77P	HN1L_ENST00000382710.4_Silent_p.P65P|HN1L_ENST00000382711.5_Silent_p.P61P|HN1L_ENST00000569765.1_Intron|HN1L_ENST00000562684.1_Silent_p.P105P|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000561516.1_Intron	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	77						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						AATCAACCCCCGTGCAGACTC	0.572000													28	80					0	0	1	0	0
TMEM144	55314	broad.mit.edu	37	4	159174647	159174647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:159174647G>A	ENST00000296529.6	+	13	1526	c.1006G>A	c.(1006-1008)Gga>Aga	p.G336R	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	336						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CATCTTGACTGGAGCCTTATG	0.383000													18	60					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124179743	124179743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:124179743C>T	ENST00000357821.2	-	1	990	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GACTCATTTTCCTACTAAGAC	0.368000													22	56					0	0	1	0	0
ACTL6A	86	broad.mit.edu	37	3	179298431	179298431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:179298431G>A	ENST00000429709.2	+	9	985	c.772G>A	c.(772-774)Gtt>Att	p.V258I	ACTL6A_ENST00000392662.1_Missense_Mutation_p.V216I|ACTL6A_ENST00000467615.1_3'UTR|ACTL6A_ENST00000450518.2_Missense_Mutation_p.V216I	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	258					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			CTCACAGTGTGTTATCCAGGA	0.264000													5	21					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150501949	150501949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:150501949G>A	ENST00000484928.1	+	7	1282	c.701G>A	c.(700-702)gGa>gAa	p.G234E	TMEM176A_ENST00000004103.3_Missense_Mutation_p.G234E|TMEM176A_ENST00000461345.1_Missense_Mutation_p.G175E			Q96HP8	T176A_HUMAN	transmembrane protein 176A	234						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAGTGAGTGGAATCTAGCCA	0.517000													35	86					0	0	1	0	0
TMEM237	65062	broad.mit.edu	37	2	202494062	202494062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:202494062G>A	ENST00000409444.2	-	9	1053	c.736C>T	c.(736-738)Cag>Tag	p.Q246*	TMEM237_ENST00000466839.1_5'UTR|TMEM237_ENST00000409883.2_Nonsense_Mutation_p.Q254*	NM_152388.3	NP_689601.2	Q96Q45	TM237_HUMAN	transmembrane protein 237	278						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						TTGGATAGCTGATCTCCTGCT	0.428000													7	15					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8125961	8125961	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:8125961C>T	ENST00000223145.5	+	8	1994	c.1437C>T	c.(1435-1437)aaC>aaT	p.N479N		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	479										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TGCTCAAGAACTCCCCTAACT	0.493000													59	362					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87460461	87460461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:87460461G>A	ENST00000517970.1	+	19	2390	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	WWP1_ENST00000349423.2_Missense_Mutation_p.D477N|WWP1_ENST00000265428.4_Missense_Mutation_p.D695N|WWP1_ENST00000341922.2_Missense_Mutation_p.D565N	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	695	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TACTATTAAGGATTTGGAATC	0.294000													7	18					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104492131	104492131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:104492131C>T	ENST00000229330.4	+	13	1855	c.1751C>T	c.(1750-1752)cCt>cTt	p.P584L	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	584	Fibronectin type-III 2.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AAAGAGACTCCTTCAAATCCA	0.343000													15	15					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50595843	50595843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:50595843G>A	ENST00000444124.2	-	6	906	c.706C>T	c.(706-708)Cct>Tct	p.P236S	DDC_ENST00000357936.5_Missense_Mutation_p.P236S|DDC_ENST00000380984.4_Missense_Mutation_p.P236S|DDC_ENST00000426377.1_Missense_Mutation_p.P158S|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Intron	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	236					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ACAAAGAAAGGAATCAGGCCA	0.507000													19	72					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14665692	14665692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:14665692C>T	ENST00000282096.4	+	1	424	c.71C>T	c.(70-72)cCc>cTc	p.P24L	PDE3B_ENST00000455098.2_Missense_Mutation_p.P24L	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	24					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTCGCCCCCCGAGAGTCTG	0.697000													6	13					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128049	152128049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:152128049G>A	ENST00000316073.3	-	3	1590	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	509	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCATAGTGGGAACTTTGGCC	0.502000													182	824					0	0	1	0	0
METRNL	284207	broad.mit.edu	37	17	81050936	81050936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:81050936C>T	ENST00000571814.1	+	2	1276	c.335C>T	c.(334-336)aCc>aTc	p.T112I	METRNL_ENST00000320095.7_Missense_Mutation_p.T194I|METRNL_ENST00000570778.1_Missense_Mutation_p.T112I|METRNL_ENST00000571940.1_3'UTR			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	194						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TGCAGTGACACCGAGGTGCTC	0.627000													6	34					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11418822	11418822	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:11418822G>A	ENST00000259089.4	+	11	1633	c.1041G>A	c.(1039-1041)ggG>ggA	p.G347G	BLK_ENST00000529894.1_Silent_p.G276G	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	347	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TTGCTGAAGGGATGGCATACA	0.597000													14	26					0	0	1	0	0
CLNS1A	1207	broad.mit.edu	37	11	77333673	77333673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:77333673C>T	ENST00000525428.1	-	5	608	c.518G>A	c.(517-519)gGa>gAa	p.G173E	CLNS1A_ENST00000525064.1_Intron|CLNS1A_ENST00000263309.3_Missense_Mutation_p.G139E|CLNS1A_ENST00000532069.1_Missense_Mutation_p.G103E|CLNS1A_ENST00000528364.1_Missense_Mutation_p.G173E	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	173					blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly	cytoskeleton|cytosol|nucleus|plasma membrane	protein binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			ATGGGATAATCCTTCTTCATA	0.398000													41	69					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107924162	107924162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:107924162G>A	ENST00000328300.6	+	46	4307	c.4063G>A	c.(4063-4065)Gaa>Aaa	p.E1355K	COL4A5_ENST00000361603.2_Missense_Mutation_p.E1349K	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1349	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCCTGAGGGGGAACCGGGACT	0.438000									Alport syndrome with Diffuse Leiomyomatosis				60	99					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43738697	43738697	+	Silent	SNP	T	T	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:43738697T>G	ENST00000263801.3	-	14	3165	c.2913A>C	c.(2911-2913)ggA>ggC	p.G971G	TP53BP1_ENST00000382039.3_Silent_p.G976G|TP53BP1_ENST00000382044.4_Silent_p.G976G|TP53BP1_ENST00000450115.2_Silent_p.G976G	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	971					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AATCCCCTTTTCCACTCCCAA	0.463000								Other conserved DNA damage response genes					25	119					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171031	207171031	+	Silent	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:207171031T>A	ENST00000374423.3	+	5	2165	c.1779T>A	c.(1777-1779)gtT>gtA	p.V593V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	593							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGTCAGTAGTTGATCATCCCC	0.408000													17	41					0	0	1	0	0
HTRA4	203100	broad.mit.edu	37	8	38845473	38845473	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:38845473C>T	ENST00000302495.4	+	9	1387	c.1287C>T	c.(1285-1287)caC>caT	p.H429H		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	429	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TGAGAGATCACGATGTAATTG	0.358000													6	33					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641025	57641025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:57641025C>T	ENST00000254181.4	+	4	1436	c.982C>T	c.(982-984)Ctt>Ttt	p.L328F	USP29_ENST00000598197.1_Missense_Mutation_p.L328F	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	328					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTGAGGCTCTTATTATGAC	0.373000													20	97					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393918	154393918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:154393918C>T	ENST00000435029.4	+	1	659	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	167	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACGGGAGGATCCTAAGGAAGG	0.398000													39	118					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78423683	78423683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:78423683G>A	ENST00000278550.7	-	26	4360	c.3898C>T	c.(3898-3900)Cgg>Tgg	p.R1300W		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		AAGACCCGCCGGCTGTTGCTG	0.532000													39	68					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32101292	32101292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:32101292G>A	ENST00000438447.1	+	24	8688	c.8300G>A	c.(8299-8301)gGa>gAa	p.G2767E	PDZD2_ENST00000513490.1_3'UTR|PDZD2_ENST00000282493.3_Missense_Mutation_p.G2767E			O15018	PDZD2_HUMAN	PDZ domain containing 2	2767	PDZ 6.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGGATGGGGGAAAATCATCG	0.522000													58	49					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141243088	141243088	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:141243088G>A	ENST00000287008.3	-	3	2955	c.2808C>T	c.(2806-2808)tcC>tcT	p.S936S	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.S914S|PCDH1_ENST00000394536.3_Silent_p.S936S|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Silent_p.S924S	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	936					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGAACTTGAGGGACTTCTGCA	0.612000													5	13					0	0	1	0	0
HCRTR1	3061	broad.mit.edu	37	1	32092393	32092393	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:32092393A>G	ENST00000403528.2	+	9	1475	c.1090A>G	c.(1090-1092)Aaa>Gaa	p.K364E	HCRTR1_ENST00000373705.1_Intron|HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000373706.5_Missense_Mutation_p.K364E	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	364					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CAACCAAGGCAAATTCCGGGA	0.622000													63	92					0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86017686	86017686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:86017686G>A	ENST00000359452.4	+	6	718	c.680G>A	c.(679-681)gGc>gAc	p.G227D	RGR_ENST00000358110.5_Intron|RGR_ENST00000479725.1_3'UTR	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	223					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CTGCTGCTCGGCTGGGGCCCC	0.547000													33	36					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616394	248616394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:248616394C>T	ENST00000342927.3	+	1	318	c.296C>T	c.(295-297)gCa>gTa	p.A99V		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			CTGGGCTGTGCAGTTCAGATC	0.532000													74	293					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21031159	21031159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:21031159C>T	ENST00000261383.3	-	41	5808	c.5809G>A	c.(5809-5811)Gaa>Aaa	p.E1937K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1937					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)		TCACCTAATTCCATTTCCTCC	0.483000													18	72					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50616039	50616039	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:50616039G>C	ENST00000341247.4	-	4	544	c.395C>G	c.(394-396)tCa>tGa	p.S132*	LIMA1_ENST00000394943.3_Nonsense_Mutation_p.S132*|LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000552823.1_5'UTR|LIMA1_ENST00000552909.1_5'UTR|RP3-405J10.4_ENST00000551284.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	132					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTCAGGAGGTGACCTGAGTCT	0.488000													44	51					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220505584	220505584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:220505584C>T	ENST00000358055.3	+	22	4033	c.3521C>T	c.(3520-3522)tCc>tTc	p.S1174F	SLC4A3_ENST00000373760.2_Missense_Mutation_p.S1174F|SLC4A3_ENST00000273063.6_Missense_Mutation_p.S1201F|SLC4A3_ENST00000373762.3_Missense_Mutation_p.S1201F|SLC4A3_ENST00000317151.3_Missense_Mutation_p.S1174F			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1174	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGTCAAGTCCACGGCGGCC	0.647000													24	72					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35448867	35448867	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:35448867A>G	ENST00000404801.1	-	4	2278	c.1892T>C	c.(1891-1893)gTt>gCt	p.V631A	ZNF792_ENST00000605484.1_Missense_Mutation_p.V564A	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTCCTAGGGAACCTCCCCAGG	0.463000													13	16					0	0	1	0	0
FTSJ1	24140	broad.mit.edu	37	X	48340019	48340019	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:48340019G>A	ENST00000019019.2	+	10	1000		c.e10-1		FTSJ1_ENST00000496365.1_Splice_Site|FTSJ1_ENST00000396894.4_Splice_Site|FTSJ1_ENST00000456787.1_Splice_Site|FTSJ1_ENST00000348411.2_Splice_Site	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)						RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						TCCCCTGGCAGAGGCCTTCGC	0.642000													8	33					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23326294	23326294	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:23326294G>T	ENST00000298032.5	+	19	2589	c.2505G>T	c.(2503-2505)aaG>aaT	p.K835N	ARMC3_ENST00000376528.4_Missense_Mutation_p.K572N|ARMC3_ENST00000409983.3_Missense_Mutation_p.K828N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	835							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACTCTCGGAAGGGAGTGATTG	0.527000													38	54					1.52319e-26	1.57132e-26	1	1	0
SCEL	8796	broad.mit.edu	37	13	78208580	78208580	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:78208580G>A	ENST00000535157.1	+	27	1802	c.1632G>A	c.(1630-1632)gaG>gaA	p.E544E	SCEL_ENST00000377246.3_Silent_p.E566E|SCEL_ENST00000349847.3_Silent_p.E586E	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	586	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CATATGTGGAGAATAGGTATT	0.328000													19	27					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587645	247587645	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:247587645C>T	ENST00000366497.2	+	4	1680	c.900C>T	c.(898-900)ctC>ctT	p.L300L	NLRP3_ENST00000391828.3_Silent_p.L300L|NLRP3_ENST00000391827.2_Silent_p.L300L|NLRP3_ENST00000336119.3_Silent_p.L300L|NLRP3_ENST00000348069.2_Silent_p.L300L|NLRP3_ENST00000366496.2_Silent_p.L300L|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	300	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCTCTTCCTCATGGACGGCT	0.582000													17	90					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141445244	141445244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:141445244G>A	ENST00000389328.4	-	4	1134	c.1120C>T	c.(1120-1122)Ctt>Ttt	p.L374F	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.L276F|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.L276F	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	276					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						TCAGCAGGAAGGGTGCTGCCC	0.532000													15	61					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33769194	33769194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:33769194C>T	ENST00000285013.6	-	5	1585	c.1310G>A	c.(1309-1311)gGa>gAa	p.G437E	SLFN13_ENST00000542635.1_Missense_Mutation_p.G437E|SLFN13_ENST00000526861.1_Missense_Mutation_p.G437E|SLFN13_ENST00000360502.2_Missense_Mutation_p.G119E|SLFN13_ENST00000534689.1_Missense_Mutation_p.G119E|SLFN13_ENST00000533791.1_Missense_Mutation_p.G437E	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	437						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GATCACAATTCCCTGGGAGAA	0.498000													16	43					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105897176	105897176	+	Missense_Mutation	SNP	C	C	T	rs56016004	by1000genomes	TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:105897176C>T	ENST00000393359.2	-	6	1552	c.1126G>A	c.(1126-1128)Ggc>Agc	p.G376S	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G376S			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	376					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TCAAGCTGGCCGCTTCTGCAA	0.542000													6	23					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830936	7830936	+	Silent	SNP	G	G	C	rs59003279		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:7830936G>C	ENST00000327325.5	+	4	745	c.627G>C	c.(625-627)acG>acC	p.T209T	CLEC4M_ENST00000394122.2_Silent_p.T197T|CLEC4M_ENST00000248228.4_Silent_p.T187T|CLEC4M_ENST00000334806.5_Silent_p.T158T|CLEC4M_ENST00000357361.2_Silent_p.T209T|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000596707.1_Silent_p.T188T|CLEC4M_ENST00000596363.1_Silent_p.T181T|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000359059.5_Silent_p.T165T	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	209	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	p.T209T(2)|p.T209>?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGGAGCTGACGGAGCTGAAGG	0.582000													4	179					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180609	65180609	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr18:65180609G>A	ENST00000310045.7	-	2	2740	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	413						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CCCCAGTTAGGGAATGTGTGT	0.488000													21	60					0	0	1	0	0
PRMT10	90826	broad.mit.edu	37	4	148594831	148594831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:148594831G>A	ENST00000322396.6	-	3	775	c.533C>T	c.(532-534)tCc>tTc	p.S178F	PRMT10_ENST00000541232.1_Missense_Mutation_p.S65F	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	178						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AACACTTTTGGACCCCAAACA	0.363000													12	49					0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14891774	14891774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:14891774C>T	ENST00000378372.3	+	6	670	c.431C>T	c.(430-432)cCg>cTg	p.P144L		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	144					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	p.P144Q(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						ATTACTGTCCCGTTTGATTTT	0.323000													31	33					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321324	79321324	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:79321324G>T	ENST00000428286.1	-	8	5989	c.4789C>A	c.(4789-4791)Caa>Aaa	p.Q1597K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.Q1956K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1956					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CACTGCTCTTGGGTAGGTGTT	0.453000													59	57					5.05997e-48	5.24355e-48	1	1	0
CLASP1	23332	broad.mit.edu	37	2	122154727	122154727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:122154727C>T	ENST00000263710.4	-	30	3501	c.3112G>A	c.(3112-3114)Gac>Aac	p.D1038N	CLASP1_ENST00000455322.2_Missense_Mutation_p.D1033N|CLASP1_ENST00000541377.1_Missense_Mutation_p.D1016N|CLASP1_ENST00000397587.3_Missense_Mutation_p.D1017N|CLASP1_ENST00000541859.1_Missense_Mutation_p.D794N|CLASP1_ENST00000409078.3_Missense_Mutation_p.D1010N|CLASP1_ENST00000545861.1_Missense_Mutation_p.D784N	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1038					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TTTCTCACGTCTGAACTCTTT	0.423000													22	52					0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	169999740	169999740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:169999740C>T	ENST00000295797.4	+	11	1356	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	351	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAGAAAACTTCCTGAAGAACA	0.373000													34	62					0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58000787	58000787	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:58000787C>T	ENST00000548198.1	+	3	1645	c.141C>T	c.(139-141)tcC>tcT	p.S47S	DTX3_ENST00000551632.1_Silent_p.S50S|DTX3_ENST00000337737.3_Silent_p.S47S|DTX3_ENST00000548804.1_Silent_p.S47S			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	47					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					ACCGTGTGTCCATCCTCATAG	0.607000													124	183					0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51398425	51398425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:51398425C>T	ENST00000216392.7	-	4	826	c.494G>A	c.(493-495)gGg>gAg	p.G165E	PYGL_ENST00000532462.1_Missense_Mutation_p.G165E|PYGL_ENST00000544180.2_Missense_Mutation_p.G131E	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	165					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ATTGAAAATCCCATATTCATA	0.438000													50	59					0	0	1	0	0
MRPL50	54534	broad.mit.edu	37	9	104152888	104152888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:104152888G>A	ENST00000374865.4	-	2	358	c.337C>T	c.(337-339)Cct>Tct	p.P113S	MRPL50_ENST00000539624.1_Missense_Mutation_p.P113S	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	113						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				CTGGAGTTAGGGACTACATGA	0.413000													31	27					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144780309	144780309	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:144780309G>A	ENST00000367545.3	+	20	2526		c.e20-1			NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTCTTCCTTAGCGGGAATTGA	0.463000													12	18					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10980040	10980040	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:10980040G>A	ENST00000254488.2	+	14	1917	c.1851G>A	c.(1849-1851)aaG>aaA	p.K617K		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	617					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CCAAACTCAAGAGTGACGGGA	0.557000													33	134					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67682059	67682059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:67682059G>A	ENST00000334583.6	+	14	1504	c.1176G>A	c.(1174-1176)tgG>tgA	p.W392*	RLTPR_ENST00000545661.1_Intron	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	392										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGGGGGGATGGATGACCGGCA	0.672000													21	69					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108709293	108709293	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:108709293G>A	ENST00000526794.1	+	14	2117		c.e14+1		DDX10_ENST00000322536.3_Splice_Site			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10								ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGAAGGGGAGGTAAGATTCTA	0.328000			T	NUP98	AML*								31	209					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80329207	80329207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:80329207C>T	ENST00000358842.3	-	1	165	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	50					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			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						ACCCATCCTTCTTTTGGGAAC	0.418000													18	85					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44673700	44673700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:44673700G>A	ENST00000454036.1	+	12	1635	c.1559G>A	c.(1558-1560)gGg>gAg	p.G520E	SLC12A5_ENST00000243964.3_Missense_Mutation_p.G497E|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	520					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCACCTGTGGGGCTGGGCTG	0.612000													81	167					0	0	1	0	0
FNDC8	54752	broad.mit.edu	37	17	33456448	33456448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:33456448G>A	ENST00000158009.5	+	3	708	c.593G>A	c.(592-594)tGg>tAg	p.W198*	NLE1_ENST00000586869.1_3'UTR	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	198	Fibronectin type-III.									breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		TAGATTTCCTGGACCTACGCC	0.577000													26	82					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150082	34150082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:34150082G>A	ENST00000346193.3	-	1	365	c.314C>T	c.(313-315)tCc>tTc	p.S105F		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	105										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGAGAGCTTGGAAAATAGGGC	0.547000													52	55					0	0	1	0	0
WDR44	54521	broad.mit.edu	37	X	117526915	117526915	+	Silent	SNP	T	T	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:117526915T>G	ENST00000254029.3	+	4	902	c.507T>G	c.(505-507)ctT>ctG	p.L169L	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371822.5_Silent_p.L144L|WDR44_ENST00000371825.3_Silent_p.L169L	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	169	Binding activity.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TTAATGTGCTTGAAACTGAAA	0.383000													26	124					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104984679	104984679	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:104984679A>G	ENST00000372582.1	+	8	1799	c.1043A>G	c.(1042-1044)aAa>aGa	p.K348R	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K348R|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	348					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						TTGCTGCGTAAAAAGGGTATT	0.368000													5	57					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57110587	57110587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:57110587G>A	ENST00000454682.1	-	3	5008	c.4727C>T	c.(4726-4728)tCc>tTc	p.S1576F	NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGCCTCTTTGGAGGATGGGGT	0.582000			T	BCL6	NHL								6	21					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34851465	34851465	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:34851465C>T	ENST00000360581.1	+	4	596	c.468C>T	c.(466-468)ttC>ttT	p.F156F	NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000359791.1_Silent_p.F156F|NPSR1_ENST00000531252.1_Silent_p.F145F|NPSR1_ENST00000381539.3_Silent_p.F156F	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	156						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCATGAAGTTCCTTCAAGGAG	0.443000													68	117					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38662381	38662381	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:38662381G>A	ENST00000413689.1	-	5	757	c.564C>T	c.(562-564)ttC>ttT	p.F188F	SCN5A_ENST00000333535.4_Silent_p.F188F|SCN5A_ENST00000449557.2_Silent_p.F188F|SCN5A_ENST00000451551.2_Silent_p.F188F|SCN5A_ENST00000443581.1_Silent_p.F188F|SCN5A_ENST00000414099.2_Silent_p.F188F|SCN5A_ENST00000423572.2_Silent_p.F188F|SCN5A_ENST00000425664.1_Silent_p.F188F|SCN5A_ENST00000455624.2_Silent_p.F188F|SCN5A_ENST00000450102.2_Silent_p.F188F	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	188					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGTCCCGAAGGAAAGTGAACG	0.537000													6	11					0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	40996174	40996174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:40996174G>A	ENST00000244565.3	-	9	1583	c.1495C>T	c.(1495-1497)Cca>Tca	p.P499S	UNC5CL_ENST00000373164.1_Missense_Mutation_p.P499S|UNC5CL_ENST00000470102.1_5'UTR	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	499					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCGGGGCCTGGGCTGCCGCCG	0.701000											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	11					0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800780	21800780	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:21800780C>T	ENST00000443632.2	+	2	1968	c.1596C>T	c.(1594-1596)ccC>ccT	p.P532P	HIC2_ENST00000407598.2_Silent_p.P532P|HIC2_ENST00000407464.2_Silent_p.P532P			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	532					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TGACACGGCCCTTCCCCTGCA	0.637000													42	134					0	0	1	0	0
DSN1	79980	broad.mit.edu	37	20	35399430	35399430	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:35399430G>A	ENST00000426836.1	-	3	573	c.201C>T	c.(199-201)ctC>ctT	p.L67L	DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373745.3_Silent_p.L67L|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373750.4_Silent_p.L67L|DSN1_ENST00000448110.1_Silent_p.L51L|DSN1_ENST00000373734.4_Intron	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	67					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				CCTGGTGGCTGAGATCACAAT	0.473000													36	101					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1477776	1477776	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:1477776G>A	ENST00000297508.7	-	12	2443	c.2268C>T	c.(2266-2268)ctC>ctT	p.L756L	MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Silent_p.L544L	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	756						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCACGCCGCGGAGCTCCAGGG	0.711000													2	2					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70541982	70541982	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:70541982G>A	ENST00000310961.5	+	24	4630		c.e24+1		LRRC7_ENST00000035383.5_Splice_Site|LRRC7_ENST00000415775.2_Splice_Site			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCCAGAGCAGGTGAGAAGTGT	0.463000													11	48					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22248959	22248959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:22248959C>T	ENST00000324559.8	+	7	792	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	159						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGTGATATTCCCCGCCCTAA	0.433000													45	110					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	171965445	171965445	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:171965445C>T	ENST00000336824.4	+	5	486	c.387C>T	c.(385-387)caC>caT	p.H129H	FNDC3B_ENST00000416957.1_Silent_p.H129H|FNDC3B_ENST00000415807.2_Silent_p.H129H	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	129						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ATCTGACTCACCATCCACATT	0.542000													55	272					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479704	4479704	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:4479704C>T	ENST00000237837.1	-	3	706	c.561G>A	c.(559-561)cgG>cgA	p.R187R		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	187					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TCAGGGGGTCCCGCTCCGAGT	0.682000													14	49					0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800093	74800093	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:74800093G>A	ENST00000305159.3	-	1	706	c.666C>T	c.(664-666)tcC>tcT	p.S222S		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TGTGGACATAGGAGAGAAGCA	0.607000													13	25					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84356080	84356080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:84356080G>A	ENST00000260505.8	-	19	2670	c.2293C>T	c.(2293-2295)Cgg>Tgg	p.R765W	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	765					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTGAAAATCCGATATAAATTT	0.408000													26	38					0	0	1	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22280052	22280052	+	RNA	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:22280052T>A	ENST00000390431.3	+	0	241																											GAACAAAGGTTTTGAAGCCAT	0.468000													26	14					0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5013325	5013325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:5013325G>A	ENST00000380390.1	+	6	943	c.727G>A	c.(727-729)Gat>Aat	p.D243N	MMP26_ENST00000300762.1_Missense_Mutation_p.D243N			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	243					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.D243N(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTCAGTGCCGATGATATCCA	0.468000													32	66					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138449716	138449716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:138449716C>T	ENST00000344876.4	-	3	3042	c.2656G>A	c.(2656-2658)Gat>Aat	p.D886N	PCDH18_ENST00000412923.2_Missense_Mutation_p.D885N|PCDH18_ENST00000511115.1_Missense_Mutation_p.D66N|PCDH18_ENST00000510305.1_Missense_Mutation_p.D97N|PCDH18_ENST00000507846.1_Missense_Mutation_p.D665N	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	886					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGCCCCAAATCATAATCACTG	0.448000													64	262					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606511	55606511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:55606511C>T	ENST00000378396.1	+	1	284	c.284C>T	c.(283-285)tCa>tTa	p.S95L		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S95L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				AGAACCATTTCATTCTCAGGA	0.408000													110	250					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132198296	132198296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:132198296C>T	ENST00000360971.2	+	18	1908	c.1888C>T	c.(1888-1890)Cct>Tct	p.P630S		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	630					3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CTCATGTAACCCTTCGGTAAG	0.433000													7	17					0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68457092	68457092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:68457092C>T	ENST00000545237.1	+	9	1705	c.964C>T	c.(964-966)Cca>Tca	p.P322S	PIAS1_ENST00000249636.6_Missense_Mutation_p.P320S			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	320					androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GACTGCGGATCCAGACAGTGA	0.333000													12	12					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9016586	9016586	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:9016586G>A	ENST00000299698.7	+	29	3879	c.3699G>A	c.(3697-3699)ggG>ggA	p.G1233G	A2ML1_ENST00000539547.1_Silent_p.G742G	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1077						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATGCATATGGGGGCTTCTCTT	0.483000													8	38					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69844689	69844689	+	Splice_Site	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:69844689T>A	ENST00000395889.2	-	20	1894	c.1739_splice	c.e20+1	p.K580_splice	TEX11_ENST00000374320.2_Splice_Site_p.K255_splice|TEX11_ENST00000374333.2_Splice_Site_p.K565_splice|TEX11_ENST00000344304.3_Splice_Site_p.K580_splice	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	580							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GGTTACTTACTTTACAGCTGT	0.353000													8	31					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28821530	28821530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:28821530G>A	ENST00000422425.2	+	34	2388	c.2344G>A	c.(2344-2346)Gag>Aag	p.E782K	PLB1_ENST00000327757.5_Missense_Mutation_p.E793K	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	793	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TATCCTTCGGGAGTTTAACAG	0.517000													29	162					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600532	179600532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:179600532C>T	ENST00000589042.1	-	50	14865	c.14641G>A	c.(14641-14643)Gag>Aag	p.E4881K	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E3637K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4564K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4564	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGATCAACTCTGCTTGGCAG	0.393000													12	25					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15535023	15535023	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:15535023G>A	ENST00000389282.4	-	9	4980	c.4767C>T	c.(4765-4767)ttC>ttT	p.F1589F	WIZ_ENST00000599910.1_Silent_p.F906F|WIZ_ENST00000599686.2_Silent_p.F773F|WIZ_ENST00000263381.6_Silent_p.F732F|WIZ_ENST00000545156.1_Silent_p.F903F			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1589						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TGTTGCCCACGAACTTGACAA	0.647000													9	27					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368697	22368697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:22368697G>A	ENST00000332663.2	+	1	220	c.122G>A	c.(121-123)gGa>gAa	p.G41E	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCTACCAGGAAATATCCTT	0.413000													105	637					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37597944	37597944	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:37597944C>T	ENST00000399151.3	+	12	1537	c.1452C>T	c.(1450-1452)ttC>ttT	p.F484F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	484					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCTGGTCTTCCTGCTGGATG	0.532000													18	71					0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29041276	29041276	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:29041276A>T	ENST00000373816.1	+	10	1821	c.1683A>T	c.(1681-1683)ttA>ttT	p.L561F	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.L561F|GMEB1_ENST00000294409.2_Missense_Mutation_p.L571F	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TTGTGGTCTTAGAGGATTAAC	0.408000													27	86					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46501231	46501231	+	Silent	SNP	T	T	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:46501231T>G	ENST00000361297.2	+	29	5173	c.4890T>G	c.(4888-4890)ctT>ctG	p.L1630L	MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Silent_p.L1440L	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1630					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TAACAGCACTTTCTCCCAGCA	0.602000													35	88					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114372594	114372594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:114372594G>A	ENST00000359785.5	-	17	2246	c.2111C>T	c.(2110-2112)tCc>tTc	p.S704F	PTPN22_ENST00000538253.1_Missense_Mutation_p.S460F|PTPN22_ENST00000528414.1_Missense_Mutation_p.S649F|PTPN22_ENST00000525799.1_Missense_Mutation_p.S577F|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.S704F	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	704					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAAAGAAGGACTCTAGAGT	0.348000													19	67					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													3	57					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627465	38627465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:38627465G>A	ENST00000413689.1	-	16	2697	c.2504C>T	c.(2503-2505)tCa>tTa	p.S835L	SCN5A_ENST00000333535.4_Missense_Mutation_p.S835L|SCN5A_ENST00000449557.2_Missense_Mutation_p.S835L|SCN5A_ENST00000451551.2_Missense_Mutation_p.S835L|SCN5A_ENST00000443581.1_Missense_Mutation_p.S835L|SCN5A_ENST00000414099.2_Missense_Mutation_p.S835L|SCN5A_ENST00000423572.2_Missense_Mutation_p.S835L|SCN5A_ENST00000425664.1_Missense_Mutation_p.S835L|SCN5A_ENST00000455624.2_Missense_Mutation_p.S835L|SCN5A_ENST00000450102.2_Missense_Mutation_p.S835L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	835					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGCCCCCACTGAGTTCCCGAT	0.562000													15	41					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71146478	71146478	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:71146478C>T	ENST00000355527.3	-	9	1647	c.1371G>A	c.(1369-1371)cgG>cgA	p.R457R	DHCR7_ENST00000407721.2_Silent_p.R457R	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	457					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GCTCCCAGTCCCGGCCGTACT	0.652000									Smith-Lemli-Opitz syndrome				58	101					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705249	101705249	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:101705249T>C	ENST00000305352.6	+	2	1084	c.709T>C	c.(709-711)Ttc>Ctc	p.F237L		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	237					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CCGCCTGACGTTCCGCAAGAA	0.572000													14	52					0	0	1	0	0
RAMP2	10266	broad.mit.edu	37	17	40914382	40914382	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:40914382T>A	ENST00000253796.5	+	3	241	c.173T>A	c.(172-174)gTg>gAg	p.V58E	RAMP2_ENST00000589683.1_5'UTR|RAMP2_ENST00000587142.1_Missense_Mutation_p.V63E|RAMP2_ENST00000588576.1_Intron	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	58					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	GGGGGGACGGTGAAGAACTAT	0.502000													62	167					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66871523	66871523	+	Silent	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:66871523T>C	ENST00000269080.2	-	35	4526	c.4389A>G	c.(4387-4389)caA>caG	p.Q1463Q	ABCA8_ENST00000430352.2_Silent_p.Q1503Q|ABCA8_ENST00000586539.1_Silent_p.Q1503Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1463	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTTTCAGGTGTTGGATGGAAC	0.438000													17	50					0	0	1	0	0
MIR222	407007	broad.mit.edu	37	X	45606444	45606444	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:45606444C>T	ENST00000384992.1	-	0	86					NR_029636.1																						CATCAGAGACCCAGTAGCCAG	0.458000													5	31					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93800800	93800800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:93800800G>A	ENST00000315765.9	+	5	955	c.947G>A	c.(946-948)aGa>aAa	p.R316K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	316	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTCATCAGCAGAGGGCATCGG	0.463000													33	256					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117676960	117676960	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:117676960G>A	ENST00000276204.6	+	3	365	c.291G>A	c.(289-291)caG>caA	p.Q97Q	DOCK11_ENST00000276202.7_Silent_p.Q97Q			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	97	Interaction with activated CDC42 (By similarity).				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGAGGGCCCAGAGTTTATTTG	0.358000													14	62					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757003	56757003	+	Silent	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:56757003T>A	ENST00000326855.2	+	1	657	c.615T>A	c.(613-615)tcT>tcA	p.S205S		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTGTGGGATCTAACTTGATAT	0.403000													86	190					0	0	1	0	0
CXorf21	80231	broad.mit.edu	37	X	30577571	30577571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:30577571G>A	ENST00000378962.3	-	3	1224	c.902C>T	c.(901-903)cCa>cTa	p.P301L		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	301										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TCCTCTCTATGGATTTACATT	0.383000													24	57					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	98865545	98865545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:98865545C>T	ENST00000376586.2	+	2	385	c.49C>T	c.(49-51)Ccg>Tcg	p.P17S	FARP1_ENST00000319562.6_Missense_Mutation_p.P17S|FARP1_ENST00000595437.1_Missense_Mutation_p.P17S|FARP1_ENST00000376581.5_Missense_Mutation_p.P17S			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	17					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ACTGGGGGCCCCGGAAAATTC	0.522000													81	56					0	0	1	0	0
C12orf45	121053	broad.mit.edu	37	12	105380177	105380177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:105380177C>T	ENST00000552951.1	+	1	90	c.47C>T	c.(46-48)cCc>cTc	p.P16L	C12orf45_ENST00000280749.5_Missense_Mutation_p.P16L	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	16										large_intestine(1)|lung(2)	3						TGTTCGTCGCCCACCCGGGAT	0.657000													14	9					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10941027	10941027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:10941027C>T	ENST00000314646.5	+	20	2680	c.2516C>T	c.(2515-2517)cCc>cTc	p.P839L	DNM2_ENST00000585892.1_Missense_Mutation_p.P839L|DNM2_ENST00000408974.4_Missense_Mutation_p.P835L|DNM2_ENST00000389253.4_Missense_Mutation_p.P839L|DNM2_ENST00000359692.6_Missense_Mutation_p.P835L|DNM2_ENST00000355667.6_Missense_Mutation_p.P839L			P50570	DYN2_HUMAN	dynamin 2	839	Pro-rich.				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)			GTTCGGATCCCCCCAGGGATT	0.667000			"""F, N, Splice, Mis, O"""		ETP ALL								36	110					0	0	1	0	0
SPNS1	83985	broad.mit.edu	37	16	28993226	28993226	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:28993226A>C	ENST00000311008.11	+	7	1191	c.814A>C	c.(814-816)Agt>Cgt	p.S272R	SPNS1_ENST00000352260.7_Intron|SPNS1_ENST00000565975.1_Missense_Mutation_p.S317R|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000561868.1_Intron|SPNS1_ENST00000334536.8_Intron|SPNS1_ENST00000323081.8_Missense_Mutation_p.S199R	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	272					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CTGCAGTCCTAGTTTCGTCCT	0.592000											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	126					0	0	1	0	0
AURKC	6795	broad.mit.edu	37	19	57743497	57743497	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:57743497C>T	ENST00000302804.7	+	3	387	c.201C>T	c.(199-201)ttC>ttT	p.F67F	AURKC_ENST00000598785.1_Silent_p.F33F|AURKC_ENST00000599062.1_Silent_p.F64F|AURKC_ENST00000448930.1_Silent_p.F33F|AURKC_ENST00000415300.2_Silent_p.F48F	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	67	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		AAAGCCATTTCATTGTGGCCC	0.542000													17	27					0	0	1	0	0
TRAF3	7187	broad.mit.edu	37	14	103363602	103363602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:103363602C>T	ENST00000560371.1	+	9	1041	c.824C>T	c.(823-825)tCc>tTc	p.S275F	TRAF3_ENST00000351691.5_Missense_Mutation_p.S250F|TRAF3_ENST00000539721.1_Missense_Mutation_p.S192F|TRAF3_ENST00000392745.2_Missense_Mutation_p.S275F|TRAF3_ENST00000347662.4_Missense_Mutation_p.S250F	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	275					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TTTTAGGTTTCCTTGTTGCAG	0.274000													5	4					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97918597	97918597	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:97918597C>T	ENST00000534948.1	+	0	3375							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AGGCATCTTCCCAGTTCCACC	0.383000													22	46					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143029570	143029570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:143029570G>A	ENST00000343257.2	+	11	1312	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	409					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTTCCCACCAGGAATGGGTCA	0.483000													49	139					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22158152	22158152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:22158152G>A	ENST00000374695.3	-	82	11424	c.11345C>T	c.(11344-11346)aCc>aTc	p.T3782I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3782	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CACCTGGGAGGTCCCATTGAC	0.652000													4	8					0	0	1	0	0
SEPT1	1731	broad.mit.edu	37	16	30392692	30392692	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:30392692G>A	ENST00000321367.3	-	6	594	c.549C>T	c.(547-549)tgC>tgT	p.C183C	SEPT1_ENST00000605106.1_Silent_p.C141C|SEPT1_ENST00000571393.1_Silent_p.C136C	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	136					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			AGTAGAGGCAGCAGTGGACTC	0.612000													27	127					0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129540	1129540	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:1129540C>T	ENST00000293897.4	+	1	760	c.672C>T	c.(670-672)atC>atT	p.I224I	SSTR5_ENST00000397547.2_Silent_p.I224I|SSTR5_ENST00000562758.1_Intron	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	224					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	ACCTGCTCATCGTGGTGAAGG	0.687000													19	29					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539455	55539455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:55539455C>T	ENST00000220676.1	+	4	3161	c.3013C>T	c.(3013-3015)Cat>Tat	p.H1005Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1005					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)			AGAAGATCTCCATGAGACACA	0.373000													98	198					0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387448	46387448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:46387448G>A	ENST00000302165.3	-	1	1928	c.1585C>T	c.(1585-1587)Ccc>Tcc	p.P529S		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	529	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGGGAGCAGGGAAAGCAGAAC	0.692000													15	59					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61510970	61510970	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:61510970C>T	ENST00000266070.4	-	16	6663	c.6338G>A	c.(6337-6339)aGg>aAg	p.R2113K	DIDO1_ENST00000395343.1_Missense_Mutation_p.R2113K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2113	Arg-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCTCTCCTCCTGTCCTCGGA	0.697000													90	101					0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74128540	74128540	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:74128540C>T	ENST00000409624.1	+	3	745	c.102C>T	c.(100-102)tcC>tcT	p.S34S	ACTG2_ENST00000409918.1_Silent_p.S34S|ACTG2_ENST00000409731.3_Silent_p.S34S|ACTG2_ENST00000345517.3_Silent_p.S34S			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	34					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						TCTTCCCCTCCATTGTGGGCC	0.622000													32	85					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5757382	5757382	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:5757382C>T	ENST00000414202.2	+	17	2114	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	KIAA1432_ENST00000418622.3_Silent_p.F562F|KIAA1432_ENST00000251879.6_Silent_p.F641F|KIAA1432_ENST00000381532.2_Silent_p.F562F|KIAA1432_ENST00000449720.2_Silent_p.F525F	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	641						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTCACCCTTTCCTGGTGGTAT	0.433000													96	89					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928438	137928438	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:137928438C>T	ENST00000409968.1	+	7	1831	c.1653C>T	c.(1651-1653)atC>atT	p.I551I	THSD7B_ENST00000413152.2_Silent_p.I520I|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Silent_p.I551I					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGAAGGGATCTGTTTCCCTG	0.527000													24	49					0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36900403	36900403	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:36900403T>A	ENST00000397224.4	-	4	884	c.791A>T	c.(790-792)aAt>aTt	p.N264I	FOXRED2_ENST00000216187.6_Missense_Mutation_p.N264I|FOXRED2_ENST00000397223.4_Missense_Mutation_p.N264I	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	264					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CAGCAGGCCATTGTTGATGGC	0.592000													28	39					0	0	1	0	0
C17orf67	339210	broad.mit.edu	37	17	54893238	54893238	+	Silent	SNP	A	A	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:54893238A>C	ENST00000575658.1	-	5	1212	c.6T>G	c.(4-6)gcT>gcG	p.A2A	C17orf67_ENST00000397862.2_Silent_p.A2A|C17orf67_ENST00000397861.2_5'UTR	NM_001085430.2	NP_001078899.2	Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	2						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					ACTTGAAGGAAGCCATGCCAG	0.493000													16	64					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516600	140516600	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:140516600C>T	ENST00000231134.5	+	1	1801	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		528	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTCGAGTTCCGCGTGGGAG	0.687000													37	30					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52552608	52552608	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:52552608T>A	ENST00000321725.6	+	47	4942	c.4866T>A	c.(4864-4866)gaT>gaA	p.D1622E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1622	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CGCACGCAGATCTAATGAGCA	0.622000													4	5					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66459397	66459397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:66459397C>T	ENST00000404260.3	+	29	4707	c.4399C>T	c.(4399-4401)Cgc>Tgc	p.R1467C	MAST4_ENST00000403625.2_Missense_Mutation_p.R1464C|MAST4_ENST00000405643.1_Missense_Mutation_p.R1285C|MAST4_ENST00000261569.7_Missense_Mutation_p.R1270C|MAST4_ENST00000403666.1_Missense_Mutation_p.R1275C			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1467						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCTGTGCTCCCGCAAGCACAG	0.667000													4	1					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201389	140201389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:140201389G>A	ENST00000529859.1	+	1	29	c.29G>A	c.(28-30)gGa>gAa	p.G10E	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G10E|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G10E	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGTCTGGGATCCCGGCTC	0.502000													31	52					0	0	1	0	0
HERC5	51191	broad.mit.edu	37	4	89381275	89381275	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:89381275T>A	ENST00000264350.3	+	3	572	c.419T>A	c.(418-420)aTa>aAa	p.I140K	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	140					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAAAAAAAAATAATTCAGATC	0.279000													6	19					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93148277	93148277	+	Silent	SNP	A	A	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:93148277A>T	ENST00000298050.3	+	13	1735	c.1635A>T	c.(1633-1635)ccA>ccT	p.P545P	CCDC67_ENST00000525646.1_Silent_p.P287P	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	545										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				ATGTATTCCCACTGGTGAGTT	0.403000													14	80					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197422750	197422750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:197422750G>A	ENST00000273582.5	-	10	1870	c.1325C>T	c.(1324-1326)gCc>gTc	p.A442V	KIAA0226_ENST00000296343.5_Missense_Mutation_p.A487V|KIAA0226_ENST00000389665.5_Missense_Mutation_p.A487V	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	487	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TTCCAGGTCGGCACAGCTGCC	0.537000													35	111					0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116633573	116633573	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:116633573G>A	ENST00000260210.4	-	4	755	c.732C>T	c.(730-732)gtC>gtT	p.V244V	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	244	Arg-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		AGTTGTTATGGACCCTTCTGG	0.542000													43	231					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472445	47472445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:47472445G>A	ENST00000266581.4	-	2	807	c.341C>T	c.(340-342)tCc>tTc	p.S114F	AMIGO2_ENST00000429635.1_Missense_Mutation_p.S114F|AMIGO2_ENST00000550413.1_Missense_Mutation_p.S114F|AMIGO2_ENST00000321382.3_Missense_Mutation_p.S114F	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	114					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TGGAGTTGTGGAAAAACTGCC	0.433000													22	110					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875199	247875199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:247875199G>A	ENST00000302084.2	-	1	906	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	287					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)			TAGATGAAGGGGTTTAAAACT	0.438000													54	100					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797421	127797421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:127797421C>T	ENST00000556132.1	-	6	2614	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	SOGA3_ENST00000465909.2_Missense_Mutation_p.E584K|SOGA3_ENST00000525778.1_Missense_Mutation_p.E584K|SOGA3_ENST00000481848.2_Missense_Mutation_p.E584K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E584K	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	584						integral to membrane											AGCTCGGCCTCCCTAGTGCTG	0.562000													18	52					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632379	143632379	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:143632379C>T	ENST00000408955.2	+	1	121	c.54C>T	c.(52-54)tcC>tcT	p.S18S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TTGGCTTATCCAGTGACTGGT	0.413000													71	184					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38507810	38507810	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:38507810T>A	ENST00000399017.2	+	18	4321	c.1574T>A	c.(1573-1575)aTa>aAa	p.I525K	TTC3_ENST00000354749.2_Missense_Mutation_p.I525K|TTC3_ENST00000540756.1_Missense_Mutation_p.I215K|TTC3_ENST00000355666.1_Missense_Mutation_p.I525K|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	525					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CCTCAAAAAATAAAGGTAAAT	0.413000													4	25					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549156	158549156	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:158549156C>T	ENST00000368150.1	-	1	533	c.534G>A	c.(532-534)ctG>ctA	p.L178L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CCCTGAATATCAGTGCAGTCT	0.448000													10	45					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75097441	75097441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:75097441G>A	ENST00000326665.5	-	7	993	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C	C1orf173_ENST00000420661.2_Missense_Mutation_p.R62C	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	259	Poly-Arg.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGGTTGGACGAAATCTTCTC	0.363000													38	62					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051434	38051434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:38051434C>T	ENST00000261439.4	+	11	2180	c.1825C>T	c.(1825-1827)Caa>Taa	p.Q609*	TBC1D1_ENST00000508802.1_Nonsense_Mutation_p.Q609*	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	609						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GGAACCTCCACAACCTGCCCG	0.557000													72	72					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34011783	34011783	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:34011783G>T	ENST00000373381.4	-	57	9130	c.8954C>A	c.(8953-8955)cCg>cAg	p.P2985Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2958	Sushi 22.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCATGAGCCGGGATCCCAGG	0.572000													17	32					7.41877e-09	7.55937e-09	1	1	0
CRYBB1	1414	broad.mit.edu	37	22	26997898	26997898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:26997898G>A	ENST00000215939.2	-	5	650	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	174	Beta/gamma crystallin 'Greek key' 3.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TAGACCCAGAGACTGGGTGCG	0.592000													52	54					0	0	1	0	0
GIPC2	54810	broad.mit.edu	37	1	78560771	78560771	+	Missense_Mutation	SNP	G	G	A	rs138753471	byFrequency	TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:78560771G>A	ENST00000370759.3	+	3	755	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	188	PDZ.					cytoplasm		p.E188*(1)|p.K187_E188>N*(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						ATTAAAAAAGGAGGAACTCTT	0.388000													29	98					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74943437	74943437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:74943437G>A	ENST00000262144.6	-	16	1734	c.1604C>T	c.(1603-1605)cCc>cTc	p.P535L		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	535										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCTAGGAAAGGGAATGTTGGC	0.552000													23	81					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113333614	113333614	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:113333614G>A	ENST00000389385.4	+	21	2387	c.1890G>A	c.(1888-1890)ctG>ctA	p.L630L	RPH3A_ENST00000447659.2_Silent_p.L581L|RPH3A_ENST00000543106.2_Silent_p.L630L|RPH3A_ENST00000415485.3_Silent_p.L630L|RPH3A_ENST00000548866.1_Silent_p.L581L|RPH3A_ENST00000551052.1_Silent_p.L626L|RPH3A_ENST00000420983.2_Silent_p.L630L|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	630	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ACAGTGACCTGGCAAAGAAGT	0.473000													28	54					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579779	82579779	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:82579779G>A	ENST00000423517.2	-	6	10462	c.10125C>T	c.(10123-10125)acC>acT	p.T3375T	PCLO_ENST00000333891.8_Silent_p.T3375T|PCLO_ENST00000437081.1_Silent_p.T95T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3306					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						CAGACTGAACGGTGTACCATC	0.458000													7	39					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54803116	54803116	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:54803116C>T	ENST00000391745.1	-	8	928	c.612G>A	c.(610-612)gtG>gtA	p.V204V	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Silent_p.V187V					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACTTGGGCTCACGGGGCCCA	0.587000													59	24					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145755806	145755806	+	Nonstop_Mutation	SNP	C	C	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:145755806C>A	ENST00000276826.5	-	10	3453	c.3252G>T	c.(3250-3252)taG>taT	p.*1084Y	ARHGAP39_ENST00000377307.2_Nonstop_Mutation_p.*1115Y|ARHGAP39_ENST00000540274.1_Nonstop_Mutation_p.*1084Y			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	0					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGCGCCCCCGCTACAGCACAC	0.687000													7	22					0.000274275	0.000276088	1	1	0
DNM1P46	196968	broad.mit.edu	37	15	100339881	100339881	+	RNA	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:100339881G>A	ENST00000341853.1	-	0	1045					NR_003260.1																						TGTGCTGACGGTGTTCGTGTT	0.652000													19	50					0	0	1	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511257	58511257	+	RNA	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:58511257G>A	ENST00000588627.1	-	0	2100																											CAAGGTTGACGATCTCATCAA	0.473000													11	28					0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800155	74800155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:74800155G>A	ENST00000305159.3	-	1	644	c.604C>T	c.(604-606)Ctc>Ttc	p.L202F		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AAGCCCATGAGGGTCTGGGGG	0.567000													9	18					0	0	1	0	0
KRTAP19-6	337973	broad.mit.edu	37	21	31914061	31914061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:31914061C>T	ENST00000334046.5	-	1	122	c.92G>A	c.(91-93)aGa>aAa	p.R31K		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	31						intermediate filament				breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						AGAGCCATATCTGTAGCCTCC	0.512000													87	153					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66358090	66358090	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:66358090G>A	ENST00000333861.3	-	1	2464	c.2397C>T	c.(2395-2397)atC>atT	p.I799I		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	799										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCCCCTTGAAGATCACTGGCT	0.542000													90	244					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27425431	27425431	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:27425431C>T	ENST00000527372.1	-	24	3993	c.3813G>A	c.(3811-3813)gaG>gaA	p.E1271E	MYO18A_ENST00000354329.4_Silent_p.E1271E|MYO18A_ENST00000531253.1_Silent_p.E1271E|MYO18A_ENST00000533112.1_Silent_p.E1271E	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1271					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCTCCGCCTTCTCGAGCTTGC	0.637000													9	37					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41386931	41386931	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:41386931T>A	ENST00000551295.2	+	17	2090	c.1973T>A	c.(1972-1974)aTt>aAt	p.I658N	CNTN1_ENST00000348761.2_Missense_Mutation_p.I647N|CNTN1_ENST00000347616.1_Missense_Mutation_p.I658N	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	658	Fibronectin type-III 1.				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)				GATCCCCCAATTATTGAAGGA	0.368000													72	110					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113518937	113518937	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:113518937G>A	ENST00000297405.5	-	29	5122	c.4878C>T	c.(4876-4878)atC>atT	p.I1626I	CSMD3_ENST00000343508.3_Silent_p.I1586I|CSMD3_ENST00000455883.2_Silent_p.I1522I|CSMD3_ENST00000352409.3_Silent_p.I1626I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1626	CUB 9.					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						ACGCCAAGGAGATAACATAGT	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	110					0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50434213	50434213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:50434213C>T	ENST00000423777.2	+	2	483	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.P36S|ATF5_ENST00000600336.1_Missense_Mutation_p.P36S	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	36					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GGCCCCTGCCCCCCTGGCTCC	0.697000													10	11					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184765094	184765094	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:184765094A>C	ENST00000367511.3	-	14	1997	c.1804T>G	c.(1804-1806)Tct>Gct	p.S602A	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	602					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AGAATGGCAGAAGCTCTCCTG	0.537000													42	82					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19746293	19746293	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:19746293C>T	ENST00000203556.4	-	15	1628	c.1491G>A	c.(1489-1491)cgG>cgA	p.R497R	GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_Silent_p.R471R|GMIP_ENST00000445806.2_Silent_p.R468R	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	497					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCCGCAGTCGCCGCAGCTGGT	0.652000													18	80					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7736084	7736084	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:7736084C>T	ENST00000507866.2	+	25	3403	c.3294C>T	c.(3292-3294)atC>atT	p.I1098I	SORCS2_ENST00000329016.9_Silent_p.I926I	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	1098						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GAGCCTTCATCCTCTACAAGT	0.627000													11	10					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216251549	216251549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:216251549G>A	ENST00000354785.4	-	28	4844	c.4475C>T	c.(4474-4476)cCt>cTt	p.P1492L	FN1_ENST00000357867.4_Missense_Mutation_p.P1401L|FN1_ENST00000357009.2_Missense_Mutation_p.P1401L|FN1_ENST00000356005.4_Missense_Mutation_p.P1401L|FN1_ENST00000346544.3_Missense_Mutation_p.P1401L|FN1_ENST00000345488.5_Missense_Mutation_p.P1401L|FN1_ENST00000336916.4_Missense_Mutation_p.P1401L|FN1_ENST00000323926.6_Missense_Mutation_p.P1492L|FN1_ENST00000359671.1_Missense_Mutation_p.P1401L|FN1_ENST00000446046.1_Missense_Mutation_p.P1401L|FN1_ENST00000443816.1_Missense_Mutation_p.P1401L|FN1_ENST00000432072.2_Missense_Mutation_p.P1492L|FN1_ENST00000421182.1_Missense_Mutation_p.P1401L			P02751	FINC_HUMAN	fibronectin 1	1491	Cell-attachment.|Fibronectin type-III 10.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCTTCTCGAGGTCTCCCACT	0.537000													27	48					0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94320221	94320221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:94320221C>T	ENST00000299001.6	+	7	933	c.722C>T	c.(721-723)tCc>tTc	p.S241F	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	241					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAAAGATTATCCCTTTGGCCT	0.353000													38	91					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969331	140969331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:140969331G>A	ENST00000298296.1	+	4	658	c.658G>A	c.(658-660)Ggc>Agc	p.G220S	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	220	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CACATACACGGGCTACTTTCC	0.438000													75	100					0	0	1	0	0
DDX28	55794	broad.mit.edu	37	16	68056397	68056397	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:68056397G>A	ENST00000332395.5	-	1	1373	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L		NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	237	Helicase ATP-binding.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CCTCCCTCCAGGTCCCGCACC	0.662000													8	41					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38603976	38603976	+	Missense_Mutation	SNP	G	G	T	rs28937319		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:38603976G>T	ENST00000413689.1	-	22	4086	c.3893C>A	c.(3892-3894)cCc>cAc	p.P1298H	SCN5A_ENST00000333535.4_Missense_Mutation_p.P1298H|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1244H|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1244H|SCN5A_ENST00000443581.1_Missense_Mutation_p.P1297H|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1298H|SCN5A_ENST00000423572.2_Missense_Mutation_p.P1297H|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1298H|SCN5A_ENST00000455624.2_Missense_Mutation_p.P1297H|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1244H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1298			P -> L (in SSS1; dbSNP:rs28937319).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGACTTGATGGGGCCCATCTC	0.612000													5	15					3.59834e-05	3.63412e-05	1	1	0
CYP1A1	1543	broad.mit.edu	37	15	75015175	75015175	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:75015175G>A	ENST00000379727.3	-	2	462	c.264C>T	c.(262-264)ggC>ggT	p.G88G	CYP1A1_ENST00000395049.4_Silent_p.G88G|CYP1A1_ENST00000567032.1_Silent_p.G88G|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000395048.2_Silent_p.G88G			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	88					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	TGGTGTCCAGGCCGCTCAGCA	0.612000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				28	48					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58189835	58189835	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:58189835C>T	ENST00000302581.2	-	1	951	c.900G>A	c.(898-900)aaG>aaA	p.K300K		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCAACACTTTCTTGAATGCAT	0.388000													31	57					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	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				43	76					0	0	1	0	0
CYB561A3	220002	broad.mit.edu	37	11	61121388	61121388	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:61121388G>A	ENST00000426130.2	-	5	1091	c.312C>T	c.(310-312)caC>caT	p.H104H	CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000447532.2_Silent_p.H87H|CYB561A3_ENST00000294072.4_Silent_p.H87H|CYB561A3_ENST00000536915.1_Silent_p.H87H	NM_001161454.1	NP_001154926.1			cytochrome b561 family, member A3																		AGGCCATCAGGTGCAGCGCTG	0.602000													35	89					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256881	32256881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:32256881G>A	ENST00000360482.2	-	16	3103	c.2974C>T	c.(2974-2976)Ctt>Ttt	p.L992F	RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Intron|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	992					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GAGACAGGAAGAGCCCAAAGG	0.582000													13	26					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43812473	43812473	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:43812473C>T	ENST00000372470.3	+	8	1218	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	MPL_ENST00000413998.2_Silent_p.P392P	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	392					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCGCCTCCCCACCCCAAACT	0.577000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						46	187					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21908530	21908530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:21908530C>T	ENST00000328843.6	+	74	11940	c.11909C>T	c.(11908-11910)tCt>tTt	p.S3970F	DNAH11_ENST00000409508.3_Missense_Mutation_p.S3963F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3970	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CACAATGTGTCTTTAGGACAA	0.478000									Kartagener syndrome				45	90					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89831400	89831400	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:89831400G>A	ENST00000389301.3	-	28	2706	c.2676C>T	c.(2674-2676)tcC>tcT	p.S892S	FANCA_ENST00000568369.1_Silent_p.S892S	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	892					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGGGTCTCCAGGAAAGGCTGG	0.537000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				34	56					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40489793	40489793	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:40489793G>A	ENST00000264657.5	-	7	945	c.633C>T	c.(631-633)gaC>gaT	p.D211D	STAT3_ENST00000585517.1_Silent_p.D211D|STAT3_ENST00000389272.3_Silent_p.D113D|STAT3_ENST00000588969.1_Silent_p.D211D|STAT3_ENST00000404395.3_Silent_p.D211D	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	211					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCCGCATCTGGTCCAGCGCAG	0.517000									Hyperimmunoglobulin E Recurrent Infection Syndrome				25	71					0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72832611	72832611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:72832611G>A	ENST00000335464.5	+	10	1438	c.1276G>A	c.(1276-1278)Ggg>Agg	p.G426R	TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.G426R|TMEM104_ENST00000582773.1_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	426						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GGGCATCACAGGGGCCTACGC	0.667000													14	33					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117230431	117230431	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:117230431G>T	ENST00000003084.6	+	13	1836	c.1704G>T	c.(1702-1704)ttG>ttT	p.L568F	CFTR_ENST00000454343.1_Missense_Mutation_p.L507F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	568	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ATGCTGATTTGTATTTATTAG	0.299000									Cystic Fibrosis				7	64					7.48243e-07	7.59039e-07	1	1	0
PCDH17	27253	broad.mit.edu	37	13	58209070	58209070	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:58209070A>T	ENST00000377918.3	+	1	2416	c.2390A>T	c.(2389-2391)tAc>tTc	p.Y797F		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	797					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCCCCCATGTACTTCGACTAC	0.602000													7	24					0	0	1	0	0
UXT	8409	broad.mit.edu	37	X	47517189	47517189	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:47517189G>A	ENST00000335890.2	-	2	361	c.208C>T	c.(208-210)Cga>Tga	p.R70*	UXT_ENST00000333119.3_Nonsense_Mutation_p.R58*	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	58					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						ACCTGGAGTCGCTCAATGACA	0.483000													12	36					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440836	124440836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:124440836C>T	ENST00000284287.3	+	1	944	c.872C>T	c.(871-873)tCt>tTt	p.S291F		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S291C(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AATGTGGCCTCTGTGTTCTAC	0.493000													27	52					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7736085	7736085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:7736085C>T	ENST00000507866.2	+	25	3404	c.3295C>T	c.(3295-3297)Ctc>Ttc	p.L1099F	SORCS2_ENST00000329016.9_Missense_Mutation_p.L927F	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	1099						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AGCCTTCATCCTCTACAAGTT	0.627000													11	9					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108559732	108559732	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:108559732C>T	ENST00000526794.1	+	7	950	c.918C>T	c.(916-918)tcC>tcT	p.S306S	DDX10_ENST00000322536.3_Silent_p.S306S			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	306	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGCTGTATTCCTTTTTGAGAA	0.383000			T	NUP98	AML*								71	180					0	0	1	0	0
TMEM55A	55529	broad.mit.edu	37	8	92033485	92033485	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:92033485G>A	ENST00000285419.3	-	2	568	c.255_splice	c.e2+1	p.T85_splice		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	85						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TCCACTTACCGTAGCTTCATT	0.353000													15	92					0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24608280	24608280	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:24608280C>A	ENST00000379145.1	-	4	336	c.292G>T	c.(292-294)Gat>Tat	p.D98Y	PCYT1B_ENST00000492876.1_5'UTR|PCYT1B_ENST00000379144.2_Missense_Mutation_p.D116Y|PCYT1B_ENST00000356768.4_Missense_Mutation_p.D116Y	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	116	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TGGGTGAGATCATCACTGCAA	0.483000													26	55					7.16026e-08	7.27973e-08	1	1	0
MYH4	4622	broad.mit.edu	37	17	10351276	10351276	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:10351276C>T	ENST00000255381.2	-	34	4934	c.4824G>A	c.(4822-4824)gaG>gaA	p.E1608E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1608					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						TGCTCCTGATCTCAGCATCCA	0.453000													83	75					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116675502	116675502	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:116675502G>A	ENST00000281928.3	-	2	287	c.81C>T	c.(79-81)ctC>ctT	p.L27L	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	27					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGATTCCCGTGAGTTCAGCCT	0.398000													16	53					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34778703	34778703	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:34778703C>T	ENST00000338074.2	+	11	1445	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	EPB41L1_ENST00000202028.5_Silent_p.S366S|EPB41L1_ENST00000373950.2_Silent_p.S331S|EPB41L1_ENST00000373946.3_Silent_p.S397S|EPB41L1_ENST00000373941.1_Silent_p.S428S|EPB41L1_ENST00000441639.1_Silent_p.S366S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	428					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ACACCATGTCCCGCAGCCTTG	0.607000													30	60					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58348419	58348419	+	Silent	SNP	G	G	A	rs146810775		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:58348419G>A	ENST00000371015.1	+	6	1304	c.837G>A	c.(835-837)ccG>ccA	p.P279P	PHACTR3_ENST00000361300.4_Silent_p.P168P|PHACTR3_ENST00000395636.2_Silent_p.P238P|PHACTR3_ENST00000541461.1_Silent_p.P238P|PHACTR3_ENST00000395639.4_Silent_p.P168P|PHACTR3_ENST00000359926.3_Silent_p.P276P|PHACTR3_ENST00000355648.4_Silent_p.P238P	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	279						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CGGGGTCTCCGCATCTCACCA	0.677000													23	102					0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27363900	27363900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:27363900C>T	ENST00000395762.2	+	7	812	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	IL4R_ENST00000380922.3_Missense_Mutation_p.R170C|IL4R_ENST00000449195.1_Missense_Mutation_p.R185C|IL4R_ENST00000170630.2_Missense_Mutation_p.R185C|IL4R_ENST00000543915.2_Missense_Mutation_p.R185C	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	185	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						ACCCTCCCTCCGCATCGCAGC	0.602000													67	91					0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79385861	79385861	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:79385861C>T	ENST00000393878.1	-	2	365	c.111G>A	c.(109-111)cgG>cgA	p.R37R	REG3A_ENST00000305165.2_Silent_p.R37R|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Silent_p.R37R	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	37					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GACAGCGGATCCGTGCAGAGG	0.547000													17	36					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100489541	100489541	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:100489541G>A	ENST00000279907.7	-	7	956	c.744C>T	c.(742-744)tcC>tcT	p.S248S	UHRF1BP1L_ENST00000356828.3_Silent_p.S248S	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	248										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTTTCAACTGGGAATCAGTCA	0.338000													12	23					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212181	26212181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:26212181C>T	ENST00000379034.1	+	2	367	c.218C>T	c.(217-219)cCt>cTt	p.P73L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	73	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ACTGGGTCTCCTGATGCAGTT	0.527000													35	43					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30381757	30381757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:30381757C>T	ENST00000340513.4	+	15	2252	c.1724C>T	c.(1723-1725)tCg>tTg	p.S575L	TPX2_ENST00000300403.6_Missense_Mutation_p.S539L			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	539					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TGCCCTTTCTCGTTTGATTCT	0.443000													63	105					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18112584	18112584	+	Silent	SNP	C	C	T	rs141345709	byFrequency	TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:18112584C>T	ENST00000403915.1	+	3	760	c.309C>T	c.(307-309)atC>atT	p.I103I	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Silent_p.I103I			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	103					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCCAGGAGATCGAGTACTGGG	0.478000													65	110					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41816412	41816412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:41816412G>A	ENST00000304330.4	-	16	2232	c.2116C>T	c.(2116-2118)Ccg>Tcg	p.P706S	RPAP1_ENST00000561603.1_Missense_Mutation_p.P706S	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	706						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGCTCCCGCGGCACCACCTGC	0.592000													38	47					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133219876	133219876	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:133219876G>A	ENST00000320574.5	-	35	4528	c.4485C>T	c.(4483-4485)gcC>gcT	p.A1495A	POLE_ENST00000535270.1_Silent_p.A1468A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1495					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCGCTTTGTGGGCCTGTGCGT	0.597000								DNA polymerases (catalytic subunits)					20	77					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062392	76062392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:76062392G>A	ENST00000260045.3	-	5	1907	c.1802C>T	c.(1801-1803)gCt>gTt	p.A601V		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	601					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						GCATTTAAGAGCTTTGAGGTG	0.408000													51	113					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294548	29294548	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:29294548C>T	ENST00000331664.5	-	1	2579	c.2580G>A	c.(2578-2580)aaG>aaA	p.K860K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	860					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCTGGGTTTCCTTGGGGGAGT	0.607000													39	82					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16348316	16348316	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:16348316G>A	ENST00000408042.1	-	23	3811	c.3654C>T	c.(3652-3654)tcC>tcT	p.S1218S	KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTGGAATTTGGATGACACCT	0.413000													12	15					0	0	1	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029070	41029070	+	Silent	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:41029070A>G	ENST00000244669.2	+	2	179	c.135A>G	c.(133-135)gaA>gaG	p.E45E		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	45					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTACAGAGAACGGCTGCCTG	0.473000													56	43					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107704222	107704222	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:107704222G>A	ENST00000388781.3	-	22	3128	c.3045C>T	c.(3043-3045)ctC>ctT	p.L1015L	LAMB4_ENST00000205386.4_Silent_p.L1015L|LAMB4_ENST00000388780.3_Silent_p.L1015L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1015	Laminin EGF-like 10.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGGTCTGATTGAGGGCTGATC	0.522000													90	199					0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153928316	153928316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:153928316G>A	ENST00000369575.3	-	5	1116	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	GAB3_ENST00000424127.2_Missense_Mutation_p.S363F|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	362										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTGTCTTAAGGATTGGCCTTC	0.393000													46	91					0	0	1	0	0
AZGP1	563	broad.mit.edu	37	7	99569492	99569492	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:99569492C>T	ENST00000411734.1	-	2	210	c.205G>A	c.(205-207)Gga>Aga	p.G69R	AZGP1_ENST00000292401.4_Missense_Mutation_p.G72R			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	72					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CTCCAGAGTCCCATGGGCTGA	0.512000													28	103					0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416592	145416592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:145416592G>A	ENST00000336751.5	+	4	1175	c.937G>A	c.(937-939)Gac>Aac	p.D313N	HFE2_ENST00000475797.1_Missense_Mutation_p.D87N|HFE2_ENST00000357836.5_Missense_Mutation_p.D200N|HFE2_ENST00000497365.1_Missense_Mutation_p.D87N	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	313					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCTGAACAGGACCTGCAGCT	0.552000													30	124					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468982	56468982	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:56468982G>A	ENST00000288221.6	-	2	309	c.54C>T	c.(52-54)tcC>tcT	p.S18S		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	18						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCAAACGAGGGGATCTGGAAG	0.463000													14	26					0	0	1	0	0
SLC25A46	91137	broad.mit.edu	37	5	110097150	110097150	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:110097150A>G	ENST00000355943.3	+	8	1051	c.925A>G	c.(925-927)Atg>Gtg	p.M309V	SLC25A46_ENST00000509432.1_Missense_Mutation_p.M96V|SLC25A46_ENST00000509442.2_Missense_Mutation_p.M218V|SLC25A46_ENST00000504098.1_Missense_Mutation_p.M163V|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000513807.1_Missense_Mutation_p.M147V|SLC25A46_ENST00000447245.2_Missense_Mutation_p.M228V	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	309					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TGTGCAGAGTATGTTGGATGC	0.403000													139	121					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812215	2812215	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:2812215C>T	ENST00000301740.8	+	11	2235	c.1686C>T	c.(1684-1686)tcC>tcT	p.S562S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	562	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAGGGAGGTCCCACTCTAGAT	0.612000													18	22					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95499310	95499310	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:95499310G>A	ENST00000324972.6	+	6	734	c.541_splice	c.e6+1	p.E181_splice	DYNC1I1_ENST00000447467.2_Splice_Site_p.E164_splice|DYNC1I1_ENST00000537881.1_Splice_Site_p.E144_splice|DYNC1I1_ENST00000359388.4_Splice_Site_p.E144_splice|DYNC1I1_ENST00000437599.1_Splice_Site_p.E161_splice|DYNC1I1_ENST00000457059.1_Splice_Site_p.E164_splice	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	181					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCAGTCTGAAGGTAAACTATG	0.453000													8	19					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071290	240071290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:240071290G>A	ENST00000255380.4	+	5	1318	c.539G>A	c.(538-540)cGa>cAa	p.R180Q		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	180					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CGAGCCAAACGAACAACAAAG	0.488000													59	126					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398316	10398316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:10398316G>A	ENST00000226207.5	-	37	5492	c.5398C>T	c.(5398-5400)Cgt>Tgt	p.R1800C	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1800						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATCCAGACGATGCTGCAGG	0.552000													76	65					0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217915408	217915408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:217915408C>T	ENST00000366933.4	+	6	542	c.487C>T	c.(487-489)Cga>Tga	p.R163*		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	163						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTACCAAGCCCGAAAGATGCA	0.473000													17	83					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47852815	47852815	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:47852815G>C	ENST00000289672.2	-	49	7300	c.7250C>G	c.(7249-7251)cCc>cGc	p.P2417R	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2417					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TATCAGGTAGGGGTTCTCAGG	0.547000													53	109					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45725795	45725795	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:45725795C>T	ENST00000327619.5	+	9	1250	c.876C>T	c.(874-876)tcC>tcT	p.S292S	EYA2_ENST00000357410.3_Silent_p.S292S|EYA2_ENST00000317304.6_Silent_p.S292S	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	292					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CATTTGCATCCAGATACGGGA	0.423000													99	215					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128039	83128039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:83128039C>T	ENST00000329312.4	+	4	360	c.323C>T	c.(322-324)aCc>aTc	p.T108I		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	108					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACTTCCAAAACCCATCTTAAA	0.358000													3	36					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213341213	213341213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:213341213C>T	ENST00000366960.3	+	7	998	c.848C>T	c.(847-849)cCt>cTt	p.P283L	RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.P102L|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.P271L	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	283	MIT.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GAGTCAAGCCCTACCCGTCGA	0.408000													16	30					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67911493	67911493	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:67911493C>T	ENST00000358933.5	+	6	962	c.723C>T	c.(721-723)atC>atT	p.I241I	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	241					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCCCCTTCATCCCTGAGGAGA	0.597000													23	135					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38950648	38950648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:38950648G>A	ENST00000357387.3	-	31	3332	c.3302C>T	c.(3301-3303)tCg>tTg	p.S1101L	RICTOR_ENST00000296782.5_Missense_Mutation_p.S1101L	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1101					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.S1101L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CAAAGTAAGCGAATTTAAGAT	0.368000													25	57					0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11558519	11558519	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:11558519G>A	ENST00000252455.2	+	12	1356	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P	PRKCSH_ENST00000591462.1_Intron|PRKCSH_ENST00000412601.1_Intron|PRKCSH_ENST00000587327.1_Intron|PRKCSH_ENST00000592741.1_Silent_p.P347P|PRKCSH_ENST00000589838.1_Silent_p.P340P	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	340				EAPPPLSPPQ -> VQGEQPK (in Ref. 5; AAH15154).	innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						AGGCCCCACCGCCACTGTCAC	0.677000													6	14					0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72739288	72739288	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:72739288G>A	ENST00000340415.3	+	4	1255	c.246G>A	c.(244-246)caG>caA	p.Q82Q	RAB37_ENST00000392615.5_Silent_p.Q57Q|RAB37_ENST00000392614.4_Silent_p.Q94Q|RAB37_ENST00000392610.1_Silent_p.Q89Q|RAB37_ENST00000392612.3_Silent_p.Q52Q|RAB37_ENST00000392613.5_Silent_p.Q89Q|RAB37_ENST00000402449.4_Silent_p.Q82Q|RAB37_ENST00000528438.1_Silent_p.Q62Q	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	89					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						CCGCTGGGCAGGAACGGTTCC	0.592000													29	119					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202701030	202701030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:202701030G>A	ENST00000367265.3	-	24	5111	c.3947C>T	c.(3946-3948)cCt>cTt	p.P1316L	KDM5B_ENST00000367264.2_Missense_Mutation_p.P1352L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1316					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCAGTCATCAGGCAAAGAAAA	0.408000													18	83					0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51929065	51929065	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:51929065G>A	ENST00000310914.5	-	4	521	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	153	IQ 2.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAGCCTGGATGATGCGAACAG	0.607000													60	145					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173478778	173478778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:173478778C>T	ENST00000367714.3	-	24	3390	c.2968G>A	c.(2968-2970)Gaa>Aaa	p.E990K	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	990					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATTTTATATTCCAGAGATGGC	0.378000													12	15					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65829377	65829377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:65829377C>T	ENST00000528302.1	+	15	1888	c.1834C>T	c.(1834-1836)Cct>Tct	p.P612S	SF3B2_ENST00000322535.6_Missense_Mutation_p.P629S			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	629					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCACAAGGTCCCTCCCCCATG	0.562000													18	54					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71092066	71092066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:71092066G>A	ENST00000283228.2	-	8	1710	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	PTPRR_ENST00000342084.4_Missense_Mutation_p.R308C|PTPRR_ENST00000440835.2_Missense_Mutation_p.R175C|PTPRR_ENST00000549308.1_Missense_Mutation_p.R175C|PTPRR_ENST00000378778.1_Missense_Mutation_p.R214C	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	420	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GTCTTATAGCGATTTTTAGTT	0.343000													22	50					0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129916533	129916533	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:129916533C>T	ENST00000222481.4	+	7	706	c.651C>T	c.(649-651)ctC>ctT	p.L217L		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	217					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ATATCTTCCTCCTGCCAGTCA	0.443000													64	128					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42743008	42743008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:42743008G>A	ENST00000263805.4	-	2	1719	c.1393C>T	c.(1393-1395)Caa>Taa	p.Q465*	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TCTTGCTTTTGAGACAATGAT	0.408000													44	195					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099418	168099418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:168099418C>T	ENST00000409195.1	+	9	1605	c.1516C>T	c.(1516-1518)Cat>Tat	p.H506Y	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H506Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.H284Y|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	331					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAACACATCCATCCTGAGTT	0.368000													13	29					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188067	152188067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:152188067G>A	ENST00000368801.2	-	3	6113	c.6038C>T	c.(6037-6039)tCc>tTc	p.S2013F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2013					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGTAGAGGAATGACCTGA	0.557000													75	1635					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70541981	70541981	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:70541981G>A	ENST00000310961.5	+	24	4630	c.4212_splice	c.e24+1	p.Q1404_splice	LRRC7_ENST00000035383.5_Splice_Site_p.Q1446_splice|LRRC7_ENST00000415775.2_Splice_Site_p.Q730_splice			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1446						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATCCAGAGCAGGTGAGAAGTG	0.463000													11	48					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976139	20976139	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:20976139G>A	ENST00000261383.3	-	53	9066	c.9067C>T	c.(9067-9069)Cag>Tag	p.Q3023*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3023					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)		GCCAACCACTGATTTTGGCAC	0.507000													19	39					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185240483	185240483	+	Missense_Mutation	SNP	G	G	A	rs77632908		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:185240483G>A	ENST00000367500.4	+	17	2635	c.2470G>A	c.(2470-2472)Gat>Aat	p.D824N	SWT1_ENST00000367501.3_Missense_Mutation_p.D824N	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	824										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TAATTATCAAGATGTTGAGAC	0.279000													14	43					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60485496	60485496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:60485496G>A	ENST00000360469.5	+	9	1295	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	CDH4_ENST00000543233.1_Missense_Mutation_p.E329K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	403	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding	p.E403K(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGAGGTCCCCGAAAACCGCGT	0.522000													32	67					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489561	42489561	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:42489561G>A	ENST00000545399.1	-	7	813	c.660C>T	c.(658-660)tcC>tcT	p.S220S	ATP1A3_ENST00000602133.1_Silent_p.S177S|ATP1A3_ENST00000543770.1_Silent_p.S218S|ATP1A3_ENST00000302102.5_Silent_p.S207S	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	207					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CGCCAGTCAGGGAGGAGTTGT	0.597000													26	115					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201438229	201438229	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:201438229A>G	ENST00000357799.4	+	7	3258	c.3160A>G	c.(3160-3162)Aaa>Gaa	p.K1054E		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1054					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTTGAATAAAAAAGATCTCCC	0.343000													20	74					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75015174	75015174	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:75015174G>A	ENST00000379727.3	-	2	463	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	CYP1A1_ENST00000395049.4_Silent_p.L89L|CYP1A1_ENST00000567032.1_Silent_p.L89L|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000395048.2_Silent_p.L89L			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	89					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	ATGGTGTCCAGGCCGCTCAGC	0.617000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				27	49					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962508	69962508	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:69962508C>T	ENST00000305231.7	+	1	316	c.270C>T	c.(268-270)atC>atT	p.I90I	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Silent_p.I90I	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	90					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAATTTCATCATGCAACAGA	0.333000													7	80					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5934598	5934598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:5934598G>A	ENST00000378156.4	-	22	3429	c.3164C>T	c.(3163-3165)cCc>cTc	p.P1055L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1055					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCTCGTGGGGGCGCAGGTA	0.647000													4	17					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845050	248845050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:248845050C>T	ENST00000342623.3	-	1	579	c.556G>A	c.(556-558)Gtt>Att	p.V186I		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TCACAGGAAACCAGGGCCAAC	0.493000													21	30					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14622459	14622459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:14622459C>T	ENST00000218075.4	+	5	1047	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	GLRA2_ENST00000443437.2_Missense_Mutation_p.P84S|GLRA2_ENST00000355020.4_Missense_Mutation_p.P173S	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	173					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CTTATCCTGTCCCATGGACTT	0.373000													50	92					0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	130011453	130011453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:130011453C>T	ENST00000263574.5	+	16	2092	c.2020C>T	c.(2020-2022)Ctc>Ttc	p.L674F	APLP2_ENST00000345598.5_Missense_Mutation_p.L433F|APLP2_ENST00000528499.1_Missense_Mutation_p.L606F|APLP2_ENST00000543137.1_Missense_Mutation_p.L569F|APLP2_ENST00000338167.5_Missense_Mutation_p.L662F|APLP2_ENST00000539648.1_Missense_Mutation_p.L462F|APLP2_ENST00000278756.7_Missense_Mutation_p.L672F	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	674					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGTTGGAGGCCTCGAGGAAGA	0.478000													22	75					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52720618	52720618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:52720618G>A	ENST00000399231.3	-	3	530	c.287C>T	c.(286-288)tCc>tTc	p.S96F	MYO5A_ENST00000553916.1_Missense_Mutation_p.S96F|MYO5A_ENST00000356338.6_Missense_Mutation_p.S96F|MYO5A_ENST00000399233.2_Missense_Mutation_p.S96F|MYO5A_ENST00000358212.6_Missense_Mutation_p.S96F	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	96	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AATAAGTTTGGAATCAATAAA	0.408000													20	103					0	0	1	0	0
EMP2	2013	broad.mit.edu	37	16	10641415	10641415	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:10641415G>A	ENST00000359543.3	-	2	269	c.60C>T	c.(58-60)ttC>ttT	p.F20F	EMP2_ENST00000536829.1_Silent_p.F20F	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	20				F -> L (in Ref. 3; CAA64393).	cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CGGTGGCAATGAACAGCAAGG	0.517000													15	64					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409706	130409706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:130409706G>A	ENST00000370904.1	-	22	3813	c.2903C>T	c.(2902-2904)cCc>cTc	p.P968L	IGSF1_ENST00000361420.3_Missense_Mutation_p.P977L|IGSF1_ENST00000370903.3_Missense_Mutation_p.P982L|IGSF1_ENST00000370910.1_Missense_Mutation_p.P968L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	977	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CACAGAACTGGGCTCAGCAAA	0.468000													120	166					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466788	179466788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:179466788C>T	ENST00000589042.1	-	284	55434	c.55210G>A	c.(55210-55212)Gga>Aga	p.G18404R	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9464R|TTN_ENST00000342992.6_Missense_Mutation_p.G15836R|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9531R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G16763R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9339R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16763	Fibronectin type-III 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G15836R(2)|p.G9339R(1)|p.G9464R(1)|p.G9531R(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)			GTTGGGCGTCCCTTGATGACA	0.423000													45	102					0	0	1	0	0
SLC6A8	6535	broad.mit.edu	37	X	152958983	152958983	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:152958983C>T	ENST00000253122.5	+	7	1559	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Silent_p.S246S	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	361					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TGGTCTTCTCCATCCTGGGCT	0.627000													27	99					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566771	4566771	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:4566771C>T	ENST00000360213.1	+	1	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCATCTTCCTTGCCATGG	0.522000													45	84					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423088	56423088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:56423088C>T	ENST00000588751.1	-	5	2119	c.2095G>A	c.(2095-2097)Gac>Aac	p.D699N	NLRP13_ENST00000342929.3_Missense_Mutation_p.D699N			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	699							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATTTCCAAGTCCCTTTCAAGG	0.403000													22	114					0	0	1	0	0
PLA2G2A	5320	broad.mit.edu	37	1	20305231	20305231	+	Silent	SNP	G	G	A	rs148271639		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:20305231G>A	ENST00000375111.3	-	3	307	c.36C>T	c.(34-36)atC>atT	p.I12I	PLA2G2A_ENST00000400520.3_Silent_p.I12I|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	12				I -> Y (in Ref. 4; AAT73043).	defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTACCAAAGATCATGATCA	0.527000													28	45					0	0	1	0	0
SLC9A7	84679	broad.mit.edu	37	X	46491083	46491083	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:46491083C>T	ENST00000328306.4	-	14	1700	c.1673_splice	c.e14-1	p.V559_splice	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	559					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						TCAACACCAACTCTGAAAGTC	0.493000													11	40					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234846122	234846122	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:234846122T>A	ENST00000324695.4	+	4	357	c.317T>A	c.(316-318)aTt>aAt	p.I106N	TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000355722.4_Missense_Mutation_p.I56N|TRPM8_ENST00000409625.1_Missense_Mutation_p.I29N	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	106						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TTTGGGGATATTCAGTTTGAG	0.468000													47	197					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70281853	70281853	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:70281853G>A	ENST00000377844.4	-	10	2850	c.2091C>T	c.(2089-2091)ctC>ctT	p.L697L	KLHL1_ENST00000545028.1_Silent_p.L504L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	697					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGTCACCAAGGAGACAGACCC	0.433000													39	47					0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14862007	14862007	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:14862007G>A	ENST00000398334.1	-	10	2529	c.2262C>T	c.(2260-2262)ttC>ttT	p.F754F	FANCB_ENST00000324138.3_Silent_p.F754F	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	754					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TATCAATTAGGAAATTCTCAC	0.348000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				21	43					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	169985727	169985727	+	Silent	SNP	T	T	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:169985727T>G	ENST00000367765.1	-	10	2440	c.939A>C	c.(937-939)atA>atC	p.I313I	KIFAP3_ENST00000361580.2_Silent_p.I353I|KIFAP3_ENST00000540905.1_Silent_p.I55I|KIFAP3_ENST00000538366.1_Silent_p.I275I|KIFAP3_ENST00000367767.1_Silent_p.I309I	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	353					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTCACAAGGTATCATTTTCA	0.358000													20	107					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6371588	6371588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:6371588G>A	ENST00000262483.8	-	14	1934	c.1847C>T	c.(1846-1848)cCc>cTc	p.P616L	ACKR6_ENST00000421306.3_Missense_Mutation_p.P580L|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2												p.P616F(1)									CTTCTCCCGGGGGTTGGCAGG	0.632000													27	40					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1487371	1487371	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:1487371G>A	ENST00000297508.7	-	4	540	c.365C>T	c.(364-366)tCg>tTg	p.S122L	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	122						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AGAGTCCTCCGAGGCCCTCTT	0.662000													7	10					0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129200780	129200780	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:129200780G>A	ENST00000308167.5	-	9	2287	c.1908C>T	c.(1906-1908)agC>agT	p.S636S	ELF4_ENST00000335997.7_Silent_p.S636S	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	636					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TTGTCAGAAGGCTCCCAGATG	0.587000			T	ERG	AML								48	223					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450026	105450026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:105450026G>A	ENST00000337685.2	+	5	1386	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	MUM1L1_ENST00000372552.1_Missense_Mutation_p.E201K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.E201K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	201										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTCACTTTCGGAAGATAATGA	0.383000													6	23					0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7330628	7330628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:7330628C>T	ENST00000333870.3	+	3	1392	c.1318C>T	c.(1318-1320)Cct>Tct	p.P440S	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	440						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GGACCCTGCCCCTCCCCCGAC	0.642000													15	55					0	0	1	0	0
RPS7	6201	broad.mit.edu	37	2	3624207	3624207	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:3624207T>C	ENST00000407445.3	+	4	325	c.278T>C	c.(277-279)gTc>gCc	p.V93A	RPS7_ENST00000406376.1_Missense_Mutation_p.V93A|RPS7_ENST00000304921.5_Missense_Mutation_p.V93A|RPS7_ENST00000403564.1_Missense_Mutation_p.V93A			P62081	RS7_HUMAN	ribosomal protein S7	93					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		AAGCATGTCGTCTTTATCGCT	0.403000													38	388					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41572389	41572389	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:41572389G>T	ENST00000263253.7	+	30	6137	c.4918G>T	c.(4918-4920)Gag>Tag	p.E1640*	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1640	Binding region for E1A adenovirus.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAAGCACCTGGAGTTCTCTTC	0.567000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				18	105					8.04996e-18	8.25776e-18	1	1	0
GPR98	84059	broad.mit.edu	37	5	90046491	90046491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:90046491G>A	ENST00000405460.2	+	53	11194	c.11098G>A	c.(11098-11100)Gat>Aat	p.D3700N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3700	Calx-beta 24.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGTATTAGTGATATATTTCC	0.373000													55	87					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431951	140431951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:140431951G>A	ENST00000306549.3	+	1	973	c.896G>A	c.(895-897)gGa>gAa	p.G299E		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		299	Cadherin 3.				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)			CCTCAAAATGGAGAAGTTCGA	0.468000													33	23					0	0	1	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36500337	36500337	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:36500337G>A	ENST00000405275.2	+	17	1776	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	CTNNBL1_ENST00000373469.1_Silent_p.E286E|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000361383.6_Silent_p.E538E|CTNNBL1_ENST00000373473.1_Silent_p.E351E			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	538					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AGTATGCAGAGAACATCGGGG	0.597000													39	69					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123028725	123028725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:123028725C>T	ENST00000333479.7	+	8	755	c.578C>T	c.(577-579)tCc>tTc	p.S193F	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	193					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CAAATCAAGTCCAGTTTTATT	0.308000													30	48					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86479783	86479783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:86479783C>T	ENST00000361669.2	+	5	3588	c.2489C>T	c.(2488-2490)cCc>cTc	p.P830L	GRM3_ENST00000546348.1_Missense_Mutation_p.P422L|GRM3_ENST00000536043.1_Missense_Mutation_p.P702L|GRM3_ENST00000394720.2_Silent_p.T472T|GRM3_ENST00000439827.1_Silent_p.T474T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	830					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CTGTTTCAACCCCAGAAGAAT	0.488000													32	89					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027131	37027131	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:37027131G>A	ENST00000358047.3	+	1	700	c.648G>A	c.(646-648)gaG>gaA	p.E216E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	216										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGCCTCCAGAGACTGGAGTGT	0.662000													16	66					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102076393	102076393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:102076393G>A	ENST00000441232.1	+	29	3526	c.3424G>A	c.(3424-3426)Gga>Aga	p.G1142R	MYBPC1_ENST00000550501.1_3'UTR|MYBPC1_ENST00000550270.1_Intron|MYBPC1_ENST00000392934.3_Intron|MYBPC1_ENST00000549145.1_Intron|MYBPC1_ENST00000551300.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G1110R|MYBPC1_ENST00000361685.2_Intron|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G1098R|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G1124R|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G1112R|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G1105R|MYBPC1_ENST00000553190.1_Intron|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G1142R|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G1149R|MYBPC1_ENST00000360610.2_Intron	NM_001254719.1	NP_001241648.1	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	0					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GATATATCAAGGAGTAAATAC	0.373000													9	55					0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50864341	50864341	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:50864341G>A	ENST00000253719.2	-	5	733	c.525C>T	c.(523-525)agC>agT	p.S175S	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	175					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CGAAGACCAGGCTGGGCTCCC	0.527000													28	127					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164246531	164246531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:164246531G>A	ENST00000296533.2	-	3	1610	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	NPY1R_ENST00000509586.1_Missense_Mutation_p.S117F	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	360					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGAAGTTTTGGAAACATCTGT	0.388000													40	99					0	0	1	0	0
NSFL1C	55968	broad.mit.edu	37	20	1447410	1447410	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:1447410C>T	ENST00000216879.4	-	1	927	c.60G>A	c.(58-60)gaG>gaA	p.E20E	NSFL1C_ENST00000350991.4_Silent_p.E20E|NSFL1C_ENST00000353088.2_Silent_p.E20E|NSFL1C_ENST00000476071.1_Silent_p.E20E|NSFL1C_ENST00000381658.4_5'UTR|RP4-776F14.3_ENST00000553571.1_RNA	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	20						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GGGCCCGGTCCTCCTCGGCGC	0.756000													5	6					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79374011	79374011	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:79374011G>A	ENST00000350881.2	+	17	2416	c.2226G>A	c.(2224-2226)ggG>ggA	p.G742G	CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.G651G	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	742	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ATCCTGAAGGGGATGCCCAGA	0.592000													9	17					0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760957	6760957	+	Silent	SNP	A	A	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:6760957A>C	ENST00000245908.6	-	3	380	c.111T>G	c.(109-111)gtT>gtG	p.V37V	SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	37	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CAGAGGCGCGAACCAGGAAGT	0.612000													9	29					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332878	100332878	+	RNA	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:100332878G>A	ENST00000341853.1	-	0	1313					NR_003260.1																						TGATGAGCCTGGTCCAGGAGC	0.622000													10	68					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84494308	84494308	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:84494308G>A	ENST00000416219.2	+	25	2558	c.2469G>A	c.(2467-2469)cgG>cgA	p.R823R	ATP2C2_ENST00000420010.2_3'UTR|RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000262429.4_Silent_p.R794R			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	794					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGCCACCACGGAGTGTGCGGG	0.542000													92	93					0	0	1	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P|DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383000													4	147					0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100463203	100463203	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:100463203G>A	ENST00000326581.4	+	9	1379	c.1017G>A	c.(1015-1017)agG>agA	p.R339R		NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	339										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TGTCAGCAAGGAGTATACAAG	0.418000													15	62					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23174609	23174609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:23174609C>T	ENST00000389131.3	-	9	1858	c.1489G>A	c.(1489-1491)Gga>Aga	p.G497R		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	497	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TTGACATCTCCGTGCCAATAC	0.532000													65	126					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94482702	94482702	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:94482702G>A	ENST00000377047.4	+	3	1230	c.615G>A	c.(613-615)cgG>cgA	p.R205R	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	205						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ACGTGCCCCGGAAACTGAAGA	0.502000													16	47					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798196	148798196	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:148798196C>T	ENST00000355220.5	+	5	1152	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	MAGEA11_ENST00000333104.4_Silent_p.F321F	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	350	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGGAGCACTTCCTCTTTGGGG	0.537000													41	270					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802413	233802413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:233802413C>T	ENST00000366621.3	+	2	596	c.428C>T	c.(427-429)cCc>cTc	p.P143L	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.P27L	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	143						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	ATTGGCATTCCCTTCACCCTC	0.592000													16	64					0	0	1	0	0
GINS3	64785	broad.mit.edu	37	16	58437018	58437018	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:58437018T>C	ENST00000318129.5	+	2	411	c.203T>C	c.(202-204)cTa>cCa	p.L68P	GINS3_ENST00000426538.2_Missense_Mutation_p.L107P|GINS3_ENST00000328514.7_Intron	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	68					DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						AAGCTTGAACTACCCTTGTGG	0.453000													17	71					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71220684	71220684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:71220684C>T	ENST00000393567.2	-	2	265	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	HYDIN_ENST00000448089.2_Missense_Mutation_p.E39K|HYDIN_ENST00000448691.1_Missense_Mutation_p.E39K|HYDIN_ENST00000321489.5_Missense_Mutation_p.E39K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E56K|HYDIN_ENST00000538248.1_Missense_Mutation_p.E66K|HYDIN_ENST00000288168.10_Missense_Mutation_p.E56K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E39K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	39										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)				ACTTCTTCTTCTGTAACCACC	0.413000													33	40					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89925337	89925337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:89925337G>A	ENST00000405460.2	+	9	1916	c.1820G>A	c.(1819-1821)gGa>gAa	p.G607E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	607					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		cttcaaaatggagctcacttt	0.308000													18	24					0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42854184	42854184	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:42854184C>T	ENST00000455697.1	-	8	2208	c.1923G>A	c.(1921-1923)ggG>ggA	p.G641G	PRICKLE1_ENST00000552240.1_Silent_p.G641G|PRICKLE1_ENST00000445766.2_Silent_p.G641G|PRICKLE1_ENST00000548696.1_Silent_p.G641G|PRICKLE1_ENST00000345127.3_Silent_p.G641G|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	641					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TGTCATAGTTCCCATTGTCAA	0.507000													11	38					0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50498357	50498357	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:50498357G>A	ENST00000301149.3	+	2	274	c.41_splice	c.e2-1	p.W14_splice	GPD1_ENST00000548814.1_Splice_Site_p.W14_splice|GPD1_ENST00000547190.1_3'UTR	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	14					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	CTCCCACCAGGGGCTCAGCCA	0.622000													51	67					0	0	1	0	0
ALKBH4	54784	broad.mit.edu	37	7	102097926	102097926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:102097926G>A	ENST00000292566.3	-	3	863	c.824C>T	c.(823-825)gCt>gTt	p.A275V		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	275						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						GCCAAACTCAGCCGACAGCTC	0.667000													27	51					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153129835	153129835	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:153129835G>A	ENST00000370060.1	-	25	3453	c.3264C>T	c.(3262-3264)atC>atT	p.I1088I	L1CAM_ENST00000361981.3_Silent_p.I1083I|L1CAM_ENST00000361699.4_Silent_p.I1088I|L1CAM_ENST00000543994.1_Silent_p.I1090I|L1CAM_ENST00000538883.1_Silent_p.I1090I|L1CAM_ENST00000370055.1_Silent_p.I1083I|L1CAM_ENST00000370057.3_Silent_p.I1088I	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1088	Fibronectin type-III 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAAACAAGTGGATCTCGTAGT	0.582000													49	185					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56435995	56435995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:56435995G>A	ENST00000588751.1	-	3	442	c.418C>T	c.(418-420)Cca>Tca	p.P140S	NLRP13_ENST00000342929.3_Missense_Mutation_p.P140S			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	140							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCTTGGTTTGGATCTTGGCAT	0.423000													19	77					0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72613536	72613536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:72613536G>A	ENST00000392619.1	-	2	225	c.190C>T	c.(190-192)Cag>Tag	p.Q64*	CD300E_ENST00000328630.3_Nonsense_Mutation_p.Q37*|CD300E_ENST00000426295.2_Nonsense_Mutation_p.Q78*	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	37	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CTCTCATACTGACACCACACT	0.542000													11	38					0	0	1	0	0
KLHL21	9903	broad.mit.edu	37	1	6653691	6653691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:6653691G>A	ENST00000377658.4	-	4	1579	c.1528C>T	c.(1528-1530)Ctt>Ttt	p.L510F	KLHL21_ENST00000467612.1_Missense_Mutation_p.L143F|KLHL21_ENST00000377663.3_3'UTR	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	510					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		TTCCCCCCAAGGACGGCCAGG	0.617000													12	62					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607553	68607553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:68607553G>A	ENST00000234313.7	+	2	315	c.136G>A	c.(136-138)Gga>Aga	p.G46R		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	46	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CAGCCCCAAAGGAATGATCCC	0.458000													12	103					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563660	75563660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:75563660G>A	ENST00000336257.3	-	3	2017	c.623C>T	c.(622-624)cCg>cTg	p.P208L	CHST5_ENST00000541075.1_Missense_Mutation_p.P214L|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	208					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCTGAGCAGCGGGTAGAGCAC	0.711000													50	60					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130494	52130494	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:52130494C>T	ENST00000222107.4	-	7	1428	c.1290G>A	c.(1288-1290)tcG>tcA	p.S430S	SIGLEC5_ENST00000570106.2_Silent_p.S430S|SIGLEC5_ENST00000599649.1_Silent_p.S430S|SIGLEC5_ENST00000429354.3_Silent_p.S430S|SIGLEC5_ENST00000534261.2_Silent_p.S430S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	430					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCCCGAGGTTCGATCTCCCTG	0.557000													11	53					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312947	48312947	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:48312947C>T	ENST00000435803.1	+	17	3708	c.3684C>T	c.(3682-3684)ttC>ttT	p.F1228F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1228					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGGAGGACTTCCTGGATCTCA	0.383000													12	31					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60757799	60757799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:60757799G>A	ENST00000303375.5	+	16	2860	c.2458G>A	c.(2458-2460)Gac>Aac	p.D820N		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	820					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCGGGAGCCCGACGACAGCCC	0.627000													31	119					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887960	47887960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:47887960G>A	ENST00000396105.1	-	3	635	c.389C>T	c.(388-390)cCc>cTc	p.P130L	ZNFX1_ENST00000371754.4_Missense_Mutation_p.P130L|ZNFX1_ENST00000371752.1_Missense_Mutation_p.P130L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	130							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTTCTGGTGGGGAGTCCGCCA	0.527000													90	240					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855630	2855630	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:2855630C>T	ENST00000520002.1	-	55	8838	c.8283G>A	c.(8281-8283)gtG>gtA	p.V2761V	CSMD1_ENST00000537824.1_Silent_p.V2760V|CSMD1_ENST00000400186.3_Silent_p.V2703V|CSMD1_ENST00000542608.1_Silent_p.V2702V|CSMD1_ENST00000602723.1_Silent_p.V2703V|CSMD1_ENST00000602557.1_Silent_p.V2761V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2761	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGTGAAATTCACGACATCAT	0.557000													55	100					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66512876	66512876	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:66512876C>T	ENST00000383703.3	-	2	879	c.276G>A	c.(274-276)ccG>ccA	p.P92P	LRIG1_ENST00000273261.3_Silent_p.P92P			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	92						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CCTGTAGGTTCGGCAAGTCCT	0.478000													9	21					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49672234	49672234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:49672234C>T	ENST00000561648.1	-	4	882	c.829G>A	c.(829-831)Gag>Aag	p.E277K	ZNF423_ENST00000562871.1_Missense_Mutation_p.E217K|ZNF423_ENST00000567169.1_Missense_Mutation_p.E160K|ZNF423_ENST00000563137.2_Missense_Mutation_p.E217K|ZNF423_ENST00000535559.1_Missense_Mutation_p.E160K|ZNF423_ENST00000562520.1_Missense_Mutation_p.E217K|ZNF423_ENST00000262383.2_Missense_Mutation_p.E277K	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	277					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.E277K(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTCTCCAGCTCCTCCGTCTGG	0.582000													20	37					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058275	11058275	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:11058275C>T	ENST00000470054.1	-	0	372									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTACATTTCTCTTCACAGCAT	0.413000													5	257					0	0	1	0	0
FBXL19	54620	broad.mit.edu	37	16	30941555	30941555	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:30941555G>A	ENST00000338343.4	+	7	1338	c.951G>A	c.(949-951)tcG>tcA	p.S317S	FBXL19_ENST00000380310.2_Silent_p.S337S|FBXL19_ENST00000562319.1_Silent_p.S317S|FBXL19_ENST00000471231.2_Silent_p.S25S|FBXL19_ENST00000565690.1_Silent_p.S201S			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	337							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CCGACTCTTCGGGCACATCGC	0.672000													21	85					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137263039	137263039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:137263039G>A	ENST00000453654.1	-	16	1314	c.775C>T	c.(775-777)Cga>Tga	p.R259*	DGKI_ENST00000446122.1_Nonsense_Mutation_p.R559*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.R559*|DGKI_ENST00000288490.5_Nonsense_Mutation_p.R559*			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	559					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R559*(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATTTTATTTCGAAAACGACTG	0.338000													16	45					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143092521	143092521	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:143092521T>G	ENST00000275815.3	-	12	2060	c.1974A>C	c.(1972-1974)ttA>ttC	p.L658F		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	658	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATGTGTCTTTTAAGGTCTTAA	0.542000											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	135					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875200	247875200	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:247875200G>A	ENST00000302084.2	-	1	905	c.858C>T	c.(856-858)aaC>aaT	p.N286N	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	286					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)			AGATGAAGGGGTTTAAAACTG	0.443000													53	100					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117228674	117228674	+	Splice_Site	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:117228674T>A	ENST00000362057.3	-	3	1006		c.e3-2		DFNB31_ENST00000265134.6_Splice_Site	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31						inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGGTTCACCTGTCAGAGGGA	0.612000													69	71					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577105	92577105	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:92577105G>A	ENST00000298047.6	+	18	10589	c.10572G>A	c.(10570-10572)aaG>aaA	p.K3524K	FAT3_ENST00000409404.2_Silent_p.K3524K|FAT3_ENST00000525166.1_Silent_p.K3374K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3524	Cadherin 32.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTAGGCAAAGGATTCAGGCA	0.438000										TCGA Ovarian(4;0.039)			99	213					0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71206309	71206309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:71206309C>T	ENST00000272421.6	+	2	519	c.253C>T	c.(253-255)Ccg>Tcg	p.P85S	ANKRD53_ENST00000441349.1_Intron|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000457410.1_Intron|ANKRD53_ENST00000360589.3_Missense_Mutation_p.P85S	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	85										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CTCGCTCACCCCGCCCCGCGC	0.731000													26	126					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814745	106814745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:106814745C>T	ENST00000407775.2	+	8	2685	c.2435C>T	c.(2434-2436)tCc>tTc	p.S812F	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S680F|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S680F|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S543F|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	812					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.S812fs*1(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GTTCCAGTTTCCAAATGTGAT	0.458000													4	17					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836232	43836232	+	Silent	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:43836232A>G	ENST00000372781.3	+	2	351	c.294A>G	c.(292-294)cgA>cgG	p.R98R	SEMG1_ENST00000244069.6_Silent_p.R98R	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATCACAACGACATCTAGGTG	0.378000													66	95					0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9989669	9989669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:9989669C>T	ENST00000412055.1	-	4	1317	c.1188G>A	c.(1186-1188)tgG>tgA	p.W396*	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	396	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GGCGCCCCGGCCACTCCTCGG	0.557000													3	12					0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112343651	112343651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:112343651G>A	ENST00000389063.2	+	9	1157	c.959G>A	c.(958-960)gGa>gAa	p.G320E	DCP2_ENST00000515408.1_Intron|DCP2_ENST00000543319.1_Missense_Mutation_p.G109E	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	320					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		AGTATGAGGGGAAATGGCAGA	0.328000													10	30					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000													6	127					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50051624	50051624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:50051624C>T	ENST00000376042.1	+	6	753	c.455C>T	c.(454-456)tCt>tTt	p.S152F	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S152F|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	152					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GAGGAGGCATCTCTCTTCAGA	0.408000													16	49					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039441	248039441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:248039441G>A	ENST00000366481.3	+	6	1159	c.1111G>A	c.(1111-1113)Ggg>Agg	p.G371R	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	371	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCAAGAAAGGGGGAAACCAC	0.557000													38	77					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72863752	72863752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:72863752G>A	ENST00000268489.5	-	5	4127	c.3455C>T	c.(3454-3456)gCc>gTc	p.A1152V	ZFHX3_ENST00000397992.5_Missense_Mutation_p.A238V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1152				EEAIEDVEGPSETAADPEELAKDQEGGASSSQAEKELTDSP -> GEWSHRHGRPRLGLGVHLLETSRGLLFEGDVTDPAGPH VPY (in Ref. 5).	muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATCTTCAATGGCTTCTTCTGA	0.458000													15	60					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170108030	170108030	+	Silent	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:170108030T>C	ENST00000458537.3	+	4	2158	c.1449T>C	c.(1447-1449)aaT>aaC	p.N483N	SKIL_ENST00000413427.2_Silent_p.N437N|SKIL_ENST00000259119.4_Silent_p.N483N|SKIL_ENST00000426052.2_Silent_p.N463N	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	483					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCTCAAATAATTCTACAAGTA	0.353000													23	18					0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510786	4510786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:4510786C>T	ENST00000307632.3	+	1	678	c.656C>T	c.(655-657)tCt>tTt	p.S219F		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTTATCCTGTCTTATGTCTTC	0.507000													76	221					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120204447	120204447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:120204447G>A	ENST00000019103.5	-	11	1295	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	343					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CAGGAGAGTGGACCTGGCCAG	0.592000													44	75					0	0	1	0	0
ALG8	79053	broad.mit.edu	37	11	77820538	77820538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:77820538G>A	ENST00000376156.3	-	9	991	c.988C>T	c.(988-990)Ccc>Tcc	p.P330S	ALG8_ENST00000299626.5_Missense_Mutation_p.P330S|ALG8_ENST00000532552.2_5'UTR	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	330					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GTCACTGAGGGAAGGACTGTG	0.423000													48	132					0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129200779	129200779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:129200779G>A	ENST00000308167.5	-	9	2288	c.1909C>T	c.(1909-1911)Ctt>Ttt	p.L637F	ELF4_ENST00000335997.7_Missense_Mutation_p.L637F	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	637					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTTGTCAGAAGGCTCCCAGAT	0.582000			T	ERG	AML								50	223					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25459649	25459649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:25459649G>A	ENST00000278886.6	-	16	2184	c.2111C>T	c.(2110-2112)cCc>cTc	p.P704L	NINL_ENST00000422516.1_Missense_Mutation_p.P704L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	704					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTCAGGCTCGGGGCCGCGGGC	0.677000													24	54					0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77594934	77594934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:77594934C>T	ENST00000534064.1	-	22	2691	c.2657G>A	c.(2656-2658)gGc>gAc	p.G886D	AAMDC_ENST00000304716.8_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.G261D|AAMDC_ENST00000527134.1_Intron|AAMDC_ENST00000532481.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	886					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CCGCCCTGGGCCAGGATTCCG	0.547000													4	32					0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45997582	45997582	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:45997582G>A	ENST00000245923.4	-	4	891	c.656C>T	c.(655-657)cCg>cTg	p.P219L	RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.P219L|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	219						integral to endoplasmic reticulum membrane	signal transducer activity	p.P219L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGATGGGGACGGAGTACCGGC	0.622000													26	50					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79351571	79351571	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:79351571G>A	ENST00000264895.6	+	37	5409	c.4969_splice	c.e37+1	p.G1657_splice	FRAS1_ENST00000325942.6_Splice_Site_p.G1657_splice	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1656					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GATGGCCACAGGTAGCTACAC	0.493000													5	18					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471828	47471828	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:47471828C>T	ENST00000266581.4	-	2	1424	c.958G>A	c.(958-960)Gat>Aat	p.D320N	AMIGO2_ENST00000429635.1_Missense_Mutation_p.D320N|AMIGO2_ENST00000550413.1_Missense_Mutation_p.D320N|AMIGO2_ENST00000321382.3_Missense_Mutation_p.D320N	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	320	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CAGATGAAATCCGTATTTGCA	0.463000													61	137					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17475274	17475274	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:17475274G>A	ENST00000377873.3	-	8	1482	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	BFSP1_ENST00000377868.2_Silent_p.D356D|BFSP1_ENST00000536626.1_Silent_p.D342D|BFSP1_ENST00000544874.1_Silent_p.D342D	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	481	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						AGAATCTAGGGTCCACGTAAT	0.552000													20	45					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1995503	1995503	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:1995503C>T	ENST00000382722.5	-	8	1241	c.879G>A	c.(877-879)gtG>gtA	p.V293V	CACNA2D4_ENST00000585708.1_Silent_p.V229V|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Silent_p.V293V|CACNA2D4_ENST00000588077.1_Silent_p.V229V|CACNA2D4_ENST00000587995.1_Silent_p.V293V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	293	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCACCAAAATCACTATGTCCT	0.507000													9	58					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79403083	79403083	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:79403083C>T	ENST00000264895.6	+	57	9009	c.8569C>T	c.(8569-8571)Cgg>Tgg	p.R2857W		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2852	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.R2858W(1)|p.R2857W(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCCCAGCTCTCGGAAGGTGGA	0.522000													21	64					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153288	5153288	+	Silent	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:5153288G>T	ENST00000307388.1	-	1	584	c.585C>A	c.(583-585)atC>atA	p.I195I		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGTTGACTCGGATATCTTCAG	0.403000													45	123					8.78508e-14	8.99167e-14	1	1	0
PML	5371	broad.mit.edu	37	15	74327596	74327596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:74327596G>A	ENST00000569477.1	+	8	1916	c.1834G>A	c.(1834-1836)Gcc>Acc	p.A612T	PML_ENST00000435786.2_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Silent_p.S550S|PML_ENST00000268059.6_Silent_p.S598S|PML_ENST00000564428.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000436891.3_3'UTR			P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCCACTCCTCGCCAGTCCAGT	0.662000			T	"""RARA, PAX5"""	"""APL, ALL"""								76	259					0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23695351	23695351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:23695351C>T	ENST00000300093.4	+	5	1088	c.977C>T	c.(976-978)tCg>tTg	p.S326L		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	326					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	p.S326L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCAAGGTTTTCGATTGCTCCC	0.547000													45	146					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129207101	129207101	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:129207101C>T	ENST00000296266.3	+	17	2198	c.2004_splice	c.e17-1	p.S669_splice	IFT122_ENST00000347300.2_Splice_Site_p.S559_splice|IFT122_ENST00000440957.2_Splice_Site_p.S409_splice|IFT122_ENST00000507564.1_Splice_Site_p.S610_splice|IFT122_ENST00000504021.1_Splice_Site_p.S512_splice|IFT122_ENST00000431818.2_Splice_Site_p.S468_splice|IFT122_ENST00000348417.2_Splice_Site_p.S618_splice|IFT122_ENST00000349441.2_Splice_Site_p.S507_splice	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	618					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		p.S669F(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATCCTGCAGTCCGCTCCCATG	0.488000													12	46					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20454681	20454681	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:20454681T>G	ENST00000361078.2	-	18	2841	c.2819A>C	c.(2818-2820)aAa>aCa	p.K940T	PUM2_ENST00000536417.1_Missense_Mutation_p.K882T|PUM2_ENST00000338086.5_Missense_Mutation_p.K938T|PUM2_ENST00000403432.1_Missense_Mutation_p.K938T|PUM2_ENST00000319801.5_Missense_Mutation_p.K861T			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	940	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAACAATTTTGCTCTTGTC	0.363000													8	67					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214787141	214787141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:214787141G>A	ENST00000366955.3	+	2	212	c.44G>A	c.(43-45)aGa>aAa	p.R15K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	15	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTGCCTACAAGAGCTCTTCAG	0.423000													20	43					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32046931	32046931	+	Silent	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:32046931A>G	ENST00000375244.3	-	11	4455	c.4254T>C	c.(4252-4254)gtT>gtC	p.V1418V	TNXB_ENST00000375247.2_Silent_p.V1418V			P22105	TENX_HUMAN	tenascin XB	1505	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTTGCCCCCAACACGCACCG	0.667000													114	90					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128532	152128532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:152128532C>T	ENST00000316073.3	-	3	1107	c.1043G>A	c.(1042-1044)aGa>aAa	p.R348K		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	348	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGGCCTTTTCTGTCCATTTG	0.493000													164	678					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003955	122003955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:122003955C>T	ENST00000498619.1	+	7	3622	c.3184C>T	c.(3184-3186)Cca>Tca	p.P1062S	CASR_ENST00000296154.5_Missense_Mutation_p.P1052S|CASR_ENST00000490131.1_Missense_Mutation_p.P1052S	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1052					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGAGTTGTCCCCAGCACTTGT	0.522000													22	118					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60701034	60701034	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:60701034C>T	ENST00000005286.4	+	8	1533	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A	TMEM132A_ENST00000453848.2_Silent_p.A459A	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	459						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTGTGATGCCGTGTTCGTGG	0.701000													9	60					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6371587	6371587	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:6371587G>A	ENST00000262483.8	-	14	1935	c.1848C>T	c.(1846-1848)ccC>ccT	p.P616P	ACKR6_ENST00000421306.3_Silent_p.P580P|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2																					ACTTCTCCCGGGGGTTGGCAG	0.632000													27	39					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60483847	60483847	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:60483847C>T	ENST00000450662.2	+	9	722	c.651C>T	c.(649-651)ttC>ttT	p.F217F	EFCAB3_ENST00000305286.3_Silent_p.F165F	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	165							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AAAGCTATTTCCAAAGAAAAT	0.363000													3	14					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71801457	71801457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:71801457G>A	ENST00000258104.3	+	30	3581	c.3304G>A	c.(3304-3306)Gag>Aag	p.E1102K	DYSF_ENST00000429174.2_Missense_Mutation_p.E1102K|DYSF_ENST00000394120.2_Missense_Mutation_p.E1103K|DYSF_ENST00000409582.3_Missense_Mutation_p.E1119K|DYSF_ENST00000413539.2_Missense_Mutation_p.E1133K|DYSF_ENST00000409651.1_Missense_Mutation_p.E1134K|DYSF_ENST00000410020.3_Missense_Mutation_p.E1120K|DYSF_ENST00000409744.1_Missense_Mutation_p.E1089K|DYSF_ENST00000409762.1_Missense_Mutation_p.E1119K|DYSF_ENST00000409366.1_Missense_Mutation_p.E1103K|DYSF_ENST00000410041.1_Missense_Mutation_p.E1120K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1102						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGAGCCACTGGAGAAGACGGG	0.622000													45	79					0	0	1	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55246770	55246770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:55246770C>T	ENST00000291860.1	+	6	1018	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	334						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GGTCATCATCCCCTTTGCTAT	0.498000													36	74					0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2752299	2752299	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:2752299G>A	ENST00000312371.4	+	7	1652	c.1284G>A	c.(1282-1284)gtG>gtA	p.V428V	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	428							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGGACCTGGTGCAGGTGGACA	0.692000													9	59					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857585	124857585	+	Missense_Mutation	SNP	C	C	A	rs112861775		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:124857585C>A	ENST00000529051.1	+	8	1722	c.1463C>A	c.(1462-1464)cCc>cAc	p.P488H	CCDC15_ENST00000344762.5_Missense_Mutation_p.P488H			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	488						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCCCAAAGACCAA	0.403000													5	130					0.184627	0.18483	1	1	0
OR11G2	390439	broad.mit.edu	37	14	20666354	20666354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:20666354C>T	ENST00000357366.3	+	1	860	c.860C>T	c.(859-861)tCa>tTa	p.S287L		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GCTGTGGTTTCACTGTTCTAC	0.512000													74	75					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406708	75406708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:75406708G>A	ENST00000394810.2	-	4	2851	c.2702C>T	c.(2701-2703)cCc>cTc	p.P901L	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P677L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	901	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGGAGCCAGGGGTTCTGCAGT	0.652000													24	32					0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147088235	147088235	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:147088235G>A	ENST00000370467.3	+	3	485	c.411G>A	c.(409-411)agG>agA	p.R137R		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	137	P-type.					integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCAATCTGAGGGAAAATCAGG	0.378000													23	109					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11292836	11292836	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:11292836C>T	ENST00000227756.4	-	11	2090	c.1677_splice	c.e11-1	p.G560_splice		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		GATGGGTCCTCCCTAGGGGCC	0.592000													50	122					0	0	1	0	0
IGKV3D-11	28876	broad.mit.edu	37	2	90212098	90212098	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:90212098C>T	ENST00000390277.2	+	0	287																											TGGCCAGGCTCCCAGGCTCCT	0.592000													10	78					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5772951	5772951	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:5772951G>C	ENST00000381624.3	+	20	1977	c.1916G>C	c.(1915-1917)gGg>gCg	p.G639A	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	639						integral to membrane											AAGGAATTCGGGGGGCCCTTC	0.577000													11	34					0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10404880	10404880	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:10404880G>A	ENST00000221980.4	+	8	1939	c.1876G>A	c.(1876-1878)Gac>Aac	p.D626N		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	626	Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GGCACCCCCAGACCCTAGTCC	0.647000													58	101					0	0	1	0	0
IRF7	3665	broad.mit.edu	37	11	615007	615007	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:615007C>T	ENST00000397566.1	-	2	632	c.222_splice	c.e2-1	p.A75_splice	IRF7_ENST00000330243.5_Splice_Site_p.A75_splice|IRF7_ENST00000348655.6_Splice_Site_p.A62_splice|IRF7_ENST00000397570.1_Splice_Site_p.A62_splice|IRF7_ENST00000525445.1_Intron|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000397574.2_Splice_Site_p.A62_splice	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	62					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGCCCAGGCCTGAAGAGGG	0.741000													5	20					0	0	1	0	0
HOXD13	3239	broad.mit.edu	37	2	176958158	176958158	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:176958158C>T	ENST00000392539.3	+	1	540	c.540C>T	c.(538-540)gcC>gcT	p.A180A		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	180					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GCGTACCGGCCAACGAGGTGC	0.612000			T	NUP98	AML*								29	63					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127422297	127422297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:127422297C>T	ENST00000337623.3	+	10	1373	c.1268C>T	c.(1267-1269)gCc>gTc	p.A423V	C10orf137_ENST00000356792.4_Missense_Mutation_p.A457V	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATGCCGGTAGCCATTCTCTTG	0.373000													26	26					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64519574	64519574	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:64519574C>T	ENST00000358025.3	+	48	9173	c.8943C>T	c.(8941-8943)atC>atT	p.I2981I	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.I3014I|SYNE2_ENST00000344113.4_Silent_p.I2981I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2981					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGAGGAGATCTATAATCTTA	0.348000													21	21					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328643	80328643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:80328643C>T	ENST00000358842.3	-	1	729	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	238				E -> G (in Ref. 2; BAF84930).	glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			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						CCATAGATCTCAGAAGAACTG	0.413000													11	51					0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51279119	51279119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:51279119C>T	ENST00000551456.1	+	4	788	c.743C>T	c.(742-744)cCt>cTt	p.P248L	TMPRSS12_ENST00000398458.3_Missense_Mutation_p.P248L			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	248	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GGAATAATTCCTAACACTTCA	0.363000													35	172					0	0	1	0	0
MXRA8	54587	broad.mit.edu	37	1	1290660	1290660	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:1290660C>G	ENST00000309212.6	-	4	472	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	MXRA8_ENST00000342753.4_Missense_Mutation_p.E47Q|MXRA8_ENST00000445648.2_Missense_Mutation_p.E148Q	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	148	Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCCAGGCTCTCGTAGAGGTGG	0.731000													17	103					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353769	45353769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:45353769G>A	ENST00000359271.2	+	2	344	c.94G>A	c.(94-96)Gcc>Acc	p.A32T		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	32						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CATATCAGGTGCCCTGCTGCC	0.582000													54	135					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134074112	134074112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:134074112C>T	ENST00000359428.5	+	29	5375	c.5231C>T	c.(5230-5232)tCc>tTc	p.S1744F	NUP214_ENST00000483497.2_Missense_Mutation_p.S570F|NUP214_ENST00000451030.1_Missense_Mutation_p.S1745F|NUP214_ENST00000411637.2_Missense_Mutation_p.S1734F			P35658	NU214_HUMAN	nucleoporin 214kDa	1744	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGTGTCTTTTCCTTCAGTCAG	0.587000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								54	47					0	0	1	0	0
TSPAN12	23554	broad.mit.edu	37	7	120480083	120480083	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:120480083C>T	ENST00000222747.3	-	3	754	c.147G>A	c.(145-147)acG>acA	p.T49T	TSPAN12_ENST00000415871.1_Silent_p.T49T	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	49					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AAGTATACCTCGTTTCTGCAG	0.358000													22	47					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47650362	47650362	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:47650362G>A	ENST00000398742.2	+	5	1912	c.1863_splice	c.e5+1	p.Q621_splice	GPR111_ENST00000296862.1_Silent_p.Q689Q|GPR111_ENST00000507065.1_Silent_p.Q621Q			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	689					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ATGCATTCCAGGTAAGTCCAG	0.453000													46	26					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045834	9045834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:9045834C>T	ENST00000397910.4	-	5	36000	c.35797G>A	c.(35797-35799)Gaa>Aaa	p.E11933K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11935	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						CTGGAAAATTCTGGGGGTCCA	0.493000													45	77					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116435746	116435746	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:116435746G>A	ENST00000397752.3	+	20	4036	c.3836G>A	c.(3835-3837)aGa>aAa	p.R1279K	MET_ENST00000318493.6_Missense_Mutation_p.R1297K|MET_ENST00000539704.1_Missense_Mutation_p.R149K	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1279	Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTGATGACAAGAGGAGCCCCA	0.463000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	108	255					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160753437	160753437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:160753437C>T	ENST00000274547.2	-	10	1346	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000393959.1_Missense_Mutation_p.D377N|GABRB2_ENST00000517901.1_Intron	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	377					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ccagtagggtcccacaaggat	0.363000													40	38					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112785951	112785951	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:112785951G>C	ENST00000295408.4	+	19	2767	c.2510G>C	c.(2509-2511)tGg>tCg	p.W837S	MERTK_ENST00000421804.2_Missense_Mutation_p.W837S|MERTK_ENST00000409780.1_Missense_Mutation_p.W661S			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	837	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TACTCTTGCTGGAGAACCGAT	0.443000													27	43					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16266988	16266988	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:16266988C>T	ENST00000343518.6	-	9	1512	c.1461G>A	c.(1459-1461)agG>agA	p.R487R		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	487										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCTGCTTTTCCTTGGTGGAA	0.433000													19	228					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623280	100623280	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:100623280C>T	ENST00000317233.4	-	6	922	c.687G>A	c.(685-687)caG>caA	p.Q229Q	AFF3_ENST00000409579.1_Silent_p.Q254Q|AFF3_ENST00000356421.2_Silent_p.Q254Q|AFF3_ENST00000409236.1_Silent_p.Q229Q	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	229					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						CGGTCGGTTTCTGCTGGACCA	0.577000													35	65					0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14208691	14208691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:14208691C>T	ENST00000285021.7	-	5	813	c.599G>A	c.(598-600)gGg>gAg	p.G200E	XPC_ENST00000449060.2_Missense_Mutation_p.G163E	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	200					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCATGGACCCCTTTATTGAA	0.458000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	15					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713801	142713801	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:142713801C>T	ENST00000369381.2	-	0	804																											TGCATATTTCCTGTCTGAGTA	0.279000													8	44					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41496209	41496209	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:41496209G>A	ENST00000400454.1	-	20	4086	c.3609C>T	c.(3607-3609)tcC>tcT	p.S1203S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1203	Fibronectin type-III 4.				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)				CAAAGACCATGGAGGCTGAGG	0.572000													54	78					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173315	126173315	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:126173315G>A	ENST00000339582.2	-	9	2929	c.2121C>T	c.(2119-2121)ctC>ctT	p.L707L	GRM8_ENST00000444921.2_Silent_p.L707L|GRM8_ENST00000358373.3_Silent_p.L707L|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	707					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ACACTCCAAGGAGCTGGACGG	0.522000										HNSCC(24;0.065)			20	51					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318937	21318937	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:21318937T>C	ENST00000583088.1	+	3	1178	c.283T>C	c.(283-285)Tgg>Cgg	p.W95R	KCNJ12_ENST00000331718.5_Missense_Mutation_p.W95R	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CCTTGCCTCCTGGCTGCTGTT	0.627000										Prostate(3;0.18)			8	77					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125154627	125154627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:125154627G>A	ENST00000362012.2	+	11	1609	c.1604G>A	c.(1603-1605)gGg>gAg	p.G535E	PTGS1_ENST00000540753.1_Missense_Mutation_p.G473E|PTGS1_ENST00000223423.4_Missense_Mutation_p.G498E|PTGS1_ENST00000373698.5_Missense_Mutation_p.G426E	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	535					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GGTCTCCTAGGGAATCCCATC	0.517000													42	53					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119031753	119031753	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:119031753C>T	ENST00000307417.3	+	15	2242	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F	ABCG4_ENST00000449422.2_Silent_p.F626F|ABCG4_ENST00000531739.1_Silent_p.F626F	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	626	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	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)		TGGGCATCTTCTTCCTAGCCC	0.612000													27	70					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25297916	25297916	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:25297916C>T	ENST00000400358.4	+	20	2784	c.2727C>T	c.(2725-2727)atC>atT	p.I909I	SGSM1_ENST00000400359.4_Silent_p.I964I	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	964	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGCGTAACATCATGTGCAGGT	0.592000													11	11					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76427269	76427269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:76427269C>T	ENST00000357063.3	+	29	5822	c.4562C>T	c.(4561-4563)tCt>tTt	p.S1521F	LMO7_ENST00000465261.2_Missense_Mutation_p.S1236F|LMO7_ENST00000341547.4_Missense_Mutation_p.S1187F|LMO7_ENST00000377534.3_Missense_Mutation_p.S1521F|LMO7_ENST00000526202.1_Missense_Mutation_p.S1113F|LMO7_ENST00000321797.8_Missense_Mutation_p.S1236F			Q8WWI1	LMO7_HUMAN	LIM domain 7	1521						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CGATCCAATTCTTGGAGACAG	0.448000													8	56					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79478971	79478971	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:79478971C>T	ENST00000575842.1	-	2	747	c.321G>A	c.(319-321)gaG>gaA	p.E107E	ACTG1_ENST00000331925.2_Silent_p.E107E|ACTG1_ENST00000575087.1_Silent_p.E107E|ACTG1_ENST00000573283.1_Silent_p.E107E			P63261	ACTG_HUMAN	actin, gamma 1	107					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TCAGGGGGGCCTCGGTCAGCA	0.632000													25	49					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154159353	154159353	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:154159353C>T	ENST00000360256.4	-	14	2912	c.2712G>A	c.(2710-2712)ctG>ctA	p.L904L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	904	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGTTGAAATCAGATTATTTG	0.368000													12	70					0	0	1	0	0
NSFL1C	55968	broad.mit.edu	37	20	1447409	1447409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:1447409C>T	ENST00000216879.4	-	1	928	c.61G>A	c.(61-63)Gac>Aac	p.D21N	NSFL1C_ENST00000350991.4_Missense_Mutation_p.D21N|NSFL1C_ENST00000353088.2_Missense_Mutation_p.D21N|NSFL1C_ENST00000476071.1_Missense_Mutation_p.D21N|NSFL1C_ENST00000381658.4_5'UTR|RP4-776F14.3_ENST00000553571.1_RNA	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	21						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CGGGCCCGGTCCTCCTCGGCG	0.756000													5	6					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302466	15302466	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:15302466G>T	ENST00000263388.2	-	6	880	c.805C>A	c.(805-807)Cag>Aag	p.Q269K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	269	EGF-like 6; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTGCAGAACTGGCCTGTGGCA	0.657000													5	34					3.59834e-05	3.63412e-05	1	1	0
CCDC67	159989	broad.mit.edu	37	11	93141478	93141478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:93141478G>A	ENST00000298050.3	+	12	1508	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	CCDC67_ENST00000525646.1_Missense_Mutation_p.D212N	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	470										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GCTCCGAAATGATCTTGCAAA	0.348000													3	6					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8620237	8620237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:8620237C>T	ENST00000429646.2	+	8	3202	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	CPZ_ENST00000360986.4_Missense_Mutation_p.R529C|CPZ_ENST00000315782.6_Missense_Mutation_p.R518C|CPZ_ENST00000382480.2_Missense_Mutation_p.R392C			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	529	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAAAGGCATTCGCCACGACAT	0.597000													33	26					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933579	44933579	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:44933579C>T	ENST00000291187.4	-	6	1681	c.1359G>A	c.(1357-1359)aaG>aaA	p.K453K	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.K459K|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGCTGTAGGGCTTTTCTCCAG	0.572000													13	62					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134154640	134154640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:134154640C>T	ENST00000452510.2	+	21	3081	c.2923C>T	c.(2923-2925)Cct>Tct	p.P975S	DDX46_ENST00000354283.4_Missense_Mutation_p.P974S	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	974					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AACCTACTTCCCTCCTGGCAA	0.413000													26	40					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824855	74824855	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:74824855T>C	ENST00000256362.4	+	2	1610	c.1369T>C	c.(1369-1371)Tct>Cct	p.S457P		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	457					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						ACCAGCCCTCTCTGCTGCTGG	0.592000													40	35					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45513944	45513944	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:45513944C>T	ENST00000291574.4	+	20	3173	c.2997_splice	c.e20-1	p.P1000_splice	TRAPPC10_ENST00000483973.1_3'UTR	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1000					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CTCTTTCCAGCCCATCTACAG	0.552000													60	84					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97081768	97081768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:97081768G>A	ENST00000371247.2	-	31	3839	c.3650C>T	c.(3649-3651)gCc>gTc	p.A1217V	SORBS1_ENST00000306402.6_Missense_Mutation_p.A706V|SORBS1_ENST00000371241.1_Missense_Mutation_p.A609V|SORBS1_ENST00000371246.2_Missense_Mutation_p.A1076V|SORBS1_ENST00000353505.5_Missense_Mutation_p.A830V|SORBS1_ENST00000371245.3_Missense_Mutation_p.A830V|SORBS1_ENST00000354106.3_Missense_Mutation_p.A929V|SORBS1_ENST00000361941.3_Missense_Mutation_p.A1217V|SORBS1_ENST00000607232.1_Missense_Mutation_p.A1219V|SORBS1_ENST00000393949.1_Missense_Mutation_p.A929V|SORBS1_ENST00000277982.5_Missense_Mutation_p.A1076V|SORBS1_ENST00000347291.4_Missense_Mutation_p.A771V|SORBS1_ENST00000371249.2_Missense_Mutation_p.A741V|SORBS1_ENST00000371227.4_Missense_Mutation_p.A1191V|SORBS1_ENST00000371239.1_Missense_Mutation_p.A736V			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1217					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TCGCTGCTGGGCTTGAGGTTG	0.453000													38	52					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160093081	160093081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:160093081G>A	ENST00000361216.3	+	4	345	c.256G>A	c.(256-258)Gag>Aag	p.E86K	ATP1A2_ENST00000392233.3_Missense_Mutation_p.E86K|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	86					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CACAACCCCTGAGTGGGTCAA	0.627000													144	199					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175262	159175262	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:159175262C>T	ENST00000537147.1	+	3	876	c.33C>T	c.(31-33)tcC>tcT	p.S11S	DARC_ENST00000368122.2_Silent_p.S11S|DARC_ENST00000368121.2_Silent_p.S13S			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	11					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CGGAGCTCTCCCCCTCAACTG	0.542000													8	93					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24201052	24201052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:24201052G>A	ENST00000265769.4	+	18	2055	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	ADAM28_ENST00000397649.3_Missense_Mutation_p.E396K|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	649	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCAATGTGAGGAAGGATGGAT	0.512000													31	74					0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32546361	32546361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:32546361G>A	ENST00000382097.3	-	7	671	c.599C>T	c.(598-600)tCa>tTa	p.S200L		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	200										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ACTGAGACCTGATGTCATGAA	0.433000													65	195					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639560	7639560	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:7639560G>A	ENST00000359156.4	-	9	2275	c.2073C>T	c.(2071-2073)tcC>tcT	p.S691S	CD163_ENST00000396620.3_Silent_p.S724S|CD163_ENST00000432237.2_Silent_p.S691S|CD163_ENST00000541972.1_Silent_p.S679S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	691					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AATTGCACGAGGACAGTGTTT	0.443000													21	73					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21990978	21990978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:21990978G>A	ENST00000594012.1	-	7	2357	c.1843C>T	c.(1843-1845)Ccc>Tcc	p.P615S	ZNF43_ENST00000598381.1_Missense_Mutation_p.P615S|ZNF43_ENST00000595461.1_Missense_Mutation_p.P615S|ZNF43_ENST00000354959.4_Missense_Mutation_p.P621S	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CATTTGTAGGGTTTTCCTCCA	0.348000													8	46					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227958860	227958860	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:227958860C>T	ENST00000396625.3	-	20	1557	c.1350G>A	c.(1348-1350)caG>caA	p.Q450Q	COL4A4_ENST00000329662.7_Silent_p.Q450Q	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	450	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)		CTGGGAGGCCCTGCAGGCCTG	0.488000													12	76					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6026896	6026896	+	Silent	SNP	G	G	A	rs116094787	by1000genomes	TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:6026896G>A	ENST00000265849.7	-	11	1605	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	PMS2_ENST00000406569.3_Silent_p.S500S|PMS2_ENST00000441476.2_Silent_p.S394S|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	500					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CAGAATCCACGGAAGTGCTGC	0.627000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				50	92					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183657973	183657973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:183657973G>A	ENST00000511685.1	+	17	3103	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K	TENM3_ENST00000406950.2_Missense_Mutation_p.E994K|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		ACTCCACGAGGAAACTACAAT	0.363000													4	9					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146651203	146651203	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:146651203C>T	ENST00000607149.1	+	0	350																											AGGAGGATCTCTAAAGCAGTA	0.423000													7	23					0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56864630	56864630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:56864630G>A	ENST00000520220.2	+	7	804	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	LYN_ENST00000519728.1_Missense_Mutation_p.R198Q	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	198	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			ATCTCTCCACGAATCACTTTT	0.358000													18	35					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32047033	32047033	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:32047033G>A	ENST00000375244.3	-	11	4353	c.4152C>T	c.(4150-4152)tcC>tcT	p.S1384S	TNXB_ENST00000375247.2_Silent_p.S1384S			P22105	TENX_HUMAN	tenascin XB	1471	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCGAATCAGGGGAGGATCCTG	0.677000													86	56					0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14861851	14861851	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:14861851C>T	ENST00000398334.1	-	10	2685	c.2418G>A	c.(2416-2418)agG>agA	p.R806R	FANCB_ENST00000324138.3_Silent_p.R806R	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	806					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GGATATTTTCCCTTCTGTCTG	0.398000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				20	93					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115336899	115336899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:115336899C>T	ENST00000337530.6	+	2	835	c.539C>T	c.(538-540)tCt>tTt	p.S180F	KIAA1958_ENST00000374244.3_Missense_Mutation_p.S180F|KIAA1958_ENST00000536272.1_Missense_Mutation_p.S180F	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	180										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GTAGTCCCATCTTCCCTCCAT	0.443000													12	55					0	0	1	0	0
TCF7L1	83439	broad.mit.edu	37	2	85531453	85531453	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:85531453G>A	ENST00000282111.3	+	7	1112	c.837G>A	c.(835-837)tcG>tcA	p.S279S		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	279	Pro-rich.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TGAACGCCTCGATGTCCAGGT	0.592000													51	106					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517311	140517311	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:140517311C>T	ENST00000231134.5	+	1	2512	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		765					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTCAAGTTCCTGAAGCCGA	0.542000													95	98					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144874735	144874735	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:144874735G>A	ENST00000356994.2	-	31	4254	c.4248C>T	c.(4246-4248)ctC>ctT	p.L1416L	SCRIB_ENST00000320476.3_Silent_p.L1416L|SCRIB_ENST00000377533.3_Silent_p.L1335L	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1416					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGTCCAGGGCGAGCCTCGCTT	0.692000													5	6					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161987270	161987270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:161987270C>T	ENST00000294794.3	-	3	889	c.466G>A	c.(466-468)Gga>Aga	p.G156R	OLFML2B_ENST00000367940.2_Missense_Mutation_p.G156R	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	156										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)			TAGAACGCTCCTTCCAACATG	0.507000													33	119					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13817805	13817805	+	Splice_Site	SNP	T	T	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:13817805T>G	ENST00000265104.4	-	42	6946		c.e42-2			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						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)					TTCCACAATCTATACCAAGTA	0.438000									Kartagener syndrome				36	38					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234901	8234901	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:8234901C>T	ENST00000520004.1	-	3	1282	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S	SGK223_ENST00000330777.4_Missense_Mutation_p.G340S			Q86YV5	SG223_HUMAN		340							ATP binding|non-membrane spanning protein tyrosine kinase activity										CAAGAGAGGCCGTCGGAAGAA	0.647000													5	15					0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52303325	52303325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:52303325G>A	ENST00000371068.5	+	3	612	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	EFHC1_ENST00000433625.2_Missense_Mutation_p.R79Q|EFHC1_ENST00000538167.1_Missense_Mutation_p.R151Q|EFHC1_ENST00000491749.1_3'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	170	DM10 1.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GACCTAAATCGAGGAATAAAC	0.413000													80	58					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52378655	52378655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:52378655C>T	ENST00000420323.2	+	9	1697	c.1436C>T	c.(1435-1437)cCt>cTt	p.P479L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	479	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGCAGGTGCCTGAGCGAGGT	0.602000													4	18					0	0	1	0	0
C11orf1	64776	broad.mit.edu	37	11	111753237	111753237	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:111753237A>G	ENST00000260276.3	+	2	528	c.191A>G	c.(190-192)tAt>tGt	p.Y64C	C11orf1_ENST00000528125.1_Missense_Mutation_p.Y18C|C11orf1_ENST00000530214.1_Missense_Mutation_p.Y64C|C11orf1_ENST00000529270.1_Missense_Mutation_p.Y104C	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	64						nucleus				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		GAGAATACCTATTCAAACCGT	0.448000													20	56					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32542037	32542037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:32542037G>A	ENST00000360538.2	-	3	2602	c.2486C>T	c.(2485-2487)tCa>tTa	p.S829L	TOPORS_ENST00000379858.1_Missense_Mutation_p.S764L	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	829	Interaction with TOP1.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CAATTTTGATGAAGATTTTTG	0.398000													37	34					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21789345	21789345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:21789345C>T	ENST00000328843.6	+	54	8775	c.8744C>T	c.(8743-8745)aCt>aTt	p.T2915I	DNAH11_ENST00000409508.3_Missense_Mutation_p.T2908I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2915	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACATGCCCACTGTGTTCCTG	0.453000									Kartagener syndrome				23	55					0	0	1	0	0
NEURL3	93082	broad.mit.edu	37	2	97166148	97166148	+	RNA	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:97166148C>T	ENST00000310865.3	-	0	752									neuralized E3 ubiquitin protein ligase 3																		TCCCCACCTCCCCTGCGGGGT	0.647000													7	25					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141766417	141766417	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:141766417C>T	ENST00000475668.2	+	41	4869	c.4815C>T	c.(4813-4815)tcC>tcT	p.S1605S	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1605	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)	TGAATATTTCCAGAAATGTCC	0.502000													35	90					0	0	1	0	0
BRS3	680	broad.mit.edu	37	X	135574324	135574324	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:135574324C>T	ENST00000370648.3	+	3	1218	c.990C>T	c.(988-990)ctC>ctT	p.L330L		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	330					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CCTTTGCTCTCTACTGGCTGA	0.478000													35	208					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097730	167097730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:167097730G>A	ENST00000361200.2	+	6	3528	c.3362G>A	c.(3361-3363)cGg>cAg	p.R1121Q	DUSP27_ENST00000271385.5_Missense_Mutation_p.R1121Q|DUSP27_ENST00000443333.1_Missense_Mutation_p.R1121Q|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1121					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCCCAGTATCGGAGAAGCACT	0.512000													10	35					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Missense_Mutation	SNP	C	C	T	rs121913384		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr9:21971096C>T	ENST00000579755.1	-	2	597	c.305G>A	c.(304-306)gGa>gAa	p.G102E	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000479692.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102E|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000304494.5_Missense_Mutation_p.E88K|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143E|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E88K			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756000	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			18	16					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2432706	2432706	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:2432706G>A	ENST00000452833.1	-	18	2672	c.2664C>T	c.(2662-2664)gcC>gcT	p.A888A	TRPM5_ENST00000533060.1_Silent_p.A886A|TRPM5_ENST00000155858.6_Silent_p.A886A|TRPM5_ENST00000528453.1_Silent_p.A886A			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	886						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)		TGACACCGTAGGCCACGAGCC	0.662000													18	49					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13839481	13839481	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:13839481T>G	ENST00000265104.4	-	35	5970	c.5866A>C	c.(5866-5868)Act>Cct	p.T1956P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1956	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTAAGTGGAGTTATTACAAGC	0.418000									Kartagener syndrome				47	52					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683411	100683411	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:100683411A>C	ENST00000306151.4	+	3	8778	c.8714A>C	c.(8713-8715)gAa>gCa	p.E2905A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2905	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTTCTACTGAAGGCAGTTCT	0.483000													155	386					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88892890	88892890	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:88892890T>A	ENST00000556553.1	+	6	1150	c.591T>A	c.(589-591)caT>caA	p.H197Q	SPATA7_ENST00000045347.7_Missense_Mutation_p.H229Q|SPATA7_ENST00000393545.4_Missense_Mutation_p.H229Q|SPATA7_ENST00000356583.5_Missense_Mutation_p.H197Q			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	229					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TGGATAAACATTCTGAACTCT	0.433000													46	50					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728763	20728763	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:20728763G>A	ENST00000427401.4	-	4	340	c.246C>T	c.(244-246)gcC>gcT	p.A82A		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	82					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AAAGATCTCGGGCAAAATGAG	0.323000													6	29					0	0	1	0	0
TMEM255B	348013	broad.mit.edu	37	13	114502332	114502332	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr13:114502332G>A	ENST00000375353.3	+	5	390	c.363G>A	c.(361-363)acG>acA	p.T121T		NM_182614.2	NP_872420.1			transmembrane protein 255B																		CCCTCACCACGGGAAGATGCC	0.537000													28	25					0	0	1	0	0
TECR	9524	broad.mit.edu	37	19	14675058	14675058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:14675058C>T	ENST00000436007.2	+	8	617	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	TECR_ENST00000596073.1_5'UTR|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000215567.5_Missense_Mutation_p.R150C			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	150					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						CTTCGTGCACCGCTTCTCCCA	0.652000													18	85					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	80171622	80171622	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr5:80171622C>T	ENST00000265081.6	+	24	3435	c.3355C>T	c.(3355-3357)Ctg>Ttg	p.L1119L		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1119					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGCACAAGACCTGCAGAAGTG	0.338000								Mismatch excision repair (MMR)					25	30					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24524988	24524988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:24524988G>A	ENST00000342740.5	+	10	914	c.760G>A	c.(760-762)Ggg>Agg	p.G254R	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	254										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGACAACGCCGGGCTTAAGAC	0.572000													24	26					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189861890	189861890	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:189861890G>A	ENST00000304636.3	+	25	1931		c.e25-1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.?(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTCTTCTTTAGGGTGCTCCTG	0.393000													21	89					0	0	1	0	0
TMEM92	162461	broad.mit.edu	37	17	48356278	48356278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:48356278G>A	ENST00000300433.3	+	5	397	c.287G>A	c.(286-288)gGg>gAg	p.G96E	TMEM92_ENST00000507382.1_Missense_Mutation_p.G96E|TMEM92_ENST00000511882.1_3'UTR	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	96	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						GATTGCCGGGGGCCCCTGGAA	0.617000													19	47					0	0	1	0	0
HVCN1	84329	broad.mit.edu	37	12	111089079	111089079	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:111089079C>G	ENST00000356742.5	-	5	1339	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	HVCN1_ENST00000439744.2_Missense_Mutation_p.E176Q|HVCN1_ENST00000548312.1_Missense_Mutation_p.E196Q|HVCN1_ENST00000242607.8_Missense_Mutation_p.E196Q			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	196					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CCCAGAGCCTCAAACTGGTGC	0.582000													9	51					0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68457093	68457093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:68457093C>T	ENST00000545237.1	+	9	1706	c.965C>T	c.(964-966)cCa>cTa	p.P322L	PIAS1_ENST00000249636.6_Missense_Mutation_p.P320L			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	320					androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						ACTGCGGATCCAGACAGTGAA	0.333000													12	13					0	0	1	0	0
C4BPB	725	broad.mit.edu	37	1	207263705	207263705	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:207263705G>T	ENST00000243611.5	+	2	405	c.111G>T	c.(109-111)aaG>aaT	p.K37N	C4BPB_ENST00000367076.3_Missense_Mutation_p.K36N|C4BPB_ENST00000367078.3_Missense_Mutation_p.K37N|C4BPB_ENST00000451804.2_Missense_Mutation_p.K27N|C4BPB_ENST00000391923.1_Missense_Mutation_p.K37N	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	37	Sushi 1.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						TTGTCGCAAAGGAGGTGGAAG	0.458000													16	55					6.31663e-08	6.42917e-08	1	1	0
ELMO3	79767	broad.mit.edu	37	16	67233250	67233250	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:67233250G>A	ENST00000393997.2	+	1	237	c.180G>A	c.(178-180)gtG>gtA	p.V60V	ELMO3_ENST00000360833.1_Silent_p.V60V	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	7					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CGCGGAACGTGGTGAAGATTG	0.687000													50	91					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272895	52272895	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:52272895C>T	ENST00000598776.1	+	2	1756	c.984C>T	c.(982-984)gaC>gaT	p.D328D	FPR2_ENST00000598953.1_Silent_p.D328D|FPR2_ENST00000340023.6_Silent_p.D328D	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	328					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGTCTGAGGACTCAGCCCCAA	0.547000													17	79					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26868297	26868297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:26868297G>A	ENST00000381340.3	-	8	1206	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	264	MIR 3.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTCGTACGAAGGAAAATGTGC	0.373000													50	91					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25459648	25459648	+	Silent	SNP	G	G	A	rs146085894		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:25459648G>A	ENST00000278886.6	-	16	2185	c.2112C>T	c.(2110-2112)ccC>ccT	p.P704P	NINL_ENST00000422516.1_Silent_p.P704P	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	704					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTCAGGCTCGGGGCCGCGGG	0.677000													24	55					0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349140	103349140	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:103349140G>A	ENST00000357421.4	-	2	981	c.801C>T	c.(799-801)ctC>ctT	p.L267L		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	267					transport	integral to membrane|mitochondrial inner membrane											GGTAGATCAGGAGCAGCTTTC	0.557000													5	48					0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98288963	98288963	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:98288963G>A	ENST00000322128.3	-	1	1213	c.1110C>T	c.(1108-1110)aaC>aaT	p.N370N		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	370					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					ACAATTCTTCGTTGATTATCT	0.468000													49	186					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021825	132021825	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:132021825A>T	ENST00000356920.5	+	15	2891	c.2797A>T	c.(2797-2799)Agc>Tgc	p.S933C	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	933	Actin-like.						ATP binding										GGCGGCCTCCAGCTCCTCCCT	0.617000													9	372					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41128920	41128920	+	Missense_Mutation	SNP	C	C	T	rs34051360		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:41128920C>T	ENST00000308370.7	+	28	3748	c.3748C>T	c.(3748-3750)Cgg>Tgg	p.R1250W	LTBP4_ENST00000545697.1_Missense_Mutation_p.R618W|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1213W|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1183W	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1251					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGAGCCTCCGGAGAGGTGA	0.602000													12	16					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193081163	193081163	+	Silent	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:193081163A>G	ENST00000342358.4	-	3	363	c.246T>C	c.(244-246)ttT>ttC	p.F82F		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	82					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TATATCTTTGAAATTCGTCCT	0.413000													16	53					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115760582	115760582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:115760582C>T	ENST00000264363.2	-	11	2916	c.2238G>A	c.(2236-2238)tgG>tgA	p.W746*		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	746	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGACTGCATACCATCCAGGTA	0.373000													28	103					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001145	142001145	+	RNA	SNP	A	A	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:142001145A>T	ENST00000455382.2	+	0	311																											AGTCTGAAATATTCGATGATC	0.398000													8	10					0	0	1	0	0
CBX7	23492	broad.mit.edu	37	22	39530693	39530693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:39530693G>A	ENST00000216133.5	-	5	516	c.311C>T	c.(310-312)tCc>tTc	p.S104F	CBX7_ENST00000401405.3_Intron|CBX7_ENST00000475962.1_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	104					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					GCACGTCAGGGAGAAGCAGAG	0.701000													5	9					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989385	53989385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr6:53989385G>A	ENST00000514921.1	+	3	447	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	MLIP_ENST00000274897.5_Missense_Mutation_p.E112K|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Missense_Mutation_p.E50K|MLIP_ENST00000358276.5_Missense_Mutation_p.E106K|MLIP_ENST00000502396.1_Missense_Mutation_p.E123K|MLIP_ENST00000509997.1_Missense_Mutation_p.E60K|MLIP_ENST00000370877.2_Missense_Mutation_p.E60K			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	112						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AAGGGAATTCGAAGCAAACAA	0.453000													80	44					0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64940037	64940037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:64940037G>A	ENST00000377185.2	+	5	559	c.477G>A	c.(475-477)atG>atA	p.M159I		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	159	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GGGCACGGATGGGTTTCCGGG	0.577000													26	55					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464985	104464985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chrX:104464985C>T	ENST00000372578.3	-	2	208	c.97G>A	c.(97-99)Gag>Aag	p.E33K	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.E33K|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.E33K	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	33						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AGATAGAACTCGGGGCCTTTC	0.552000													27	50					0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41142863	41142863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:41142863C>T	ENST00000380588.4	+	4	542	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	147	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GCTGTTCATTCCCAGTGTTAA	0.423000													15	40					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94031972	94031972	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr4:94031972A>T	ENST00000282020.4	+	4	861	c.603A>T	c.(601-603)gaA>gaT	p.E201D	GRID2_ENST00000510992.1_Missense_Mutation_p.E106D|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	201					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGAAGGTAGAAAACAACATCA	0.408000													25	89					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136325	55136325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:55136325G>A	ENST00000314706.3	+	1	966	c.966G>A	c.(964-966)atG>atA	p.M322I		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGCAGAAATGAAAAGTGCCA	0.373000													46	105					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91528083	91528083	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr10:91528083C>T	ENST00000416354.1	+	30	5188	c.5116C>T	c.(5116-5118)Ccc>Tcc	p.P1706S	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.P1636S|KIF20B_ENST00000371728.3_Missense_Mutation_p.P1676S			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1676	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAATGCTACACCCAGAACTAA	0.284000													20	29					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201195046	201195046	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:201195046T>A	ENST00000335211.4	+	22	10711	c.10581T>A	c.(10579-10581)gaT>gaA	p.D3527E	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGGCCCAGGATGTCCCGCTGC	0.682000													9	30					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056981	120056981	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:120056981C>G	ENST00000235547.6	+	4	980	c.841C>G	c.(841-843)Cgc>Ggc	p.R281G	HSD3B1_ENST00000528909.1_Missense_Mutation_p.R279G|HSD3B1_ENST00000369413.3_Missense_Mutation_p.R279G	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	279					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GTTCGGCCTCCGCCTTGATTC	0.478000													32	112					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110441663	110441663	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr8:110441663T>A	ENST00000378402.5	+	26	3199	c.3095T>A	c.(3094-3096)cTa>cAa	p.L1032Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1032					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)			CTTGGAGACCTACTTCGTACA	0.323000										HNSCC(38;0.096)			10	11					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807893	8807893	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr19:8807893G>A	ENST00000324436.3	-	1	1279	c.1159C>T	c.(1159-1161)Ctg>Ttg	p.L387L		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	387						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGGGAGGCCAGGATGGAGCCC	0.647000													26	28					0	0	1	0	0
AASDHPPT	60496	broad.mit.edu	37	11	105948468	105948468	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:105948468G>C	ENST00000278618.4	+	1	253	c.31G>C	c.(31-33)Gtg>Ctg	p.V11L	KBTBD3_ENST00000531837.1_5'UTR	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	11					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GTTCTGCTTGGTGCCATCCAT	0.642000													21	140					0	0	1	0	0
CYTH1	9267	broad.mit.edu	37	17	76672231	76672231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr17:76672231G>A	ENST00000589297.1	-	14	1654	c.962C>T	c.(961-963)cCt>cTt	p.P321L	CYTH1_ENST00000446868.3_Missense_Mutation_p.P380L|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000591455.1_Missense_Mutation_p.P379L|CYTH1_ENST00000585509.1_Missense_Mutation_p.P321L|CYTH1_ENST00000361101.4_Missense_Mutation_p.P380L|CYTH1_ENST00000586175.1_5'UTR			Q15438	CYH1_HUMAN	cytohesin 1	380	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						TTCGTAGAAAGGGTCCCTGCT	0.572000													5	16					0	0	1	0	0
SH3BGR	6450	broad.mit.edu	37	21	40834459	40834459	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr21:40834459G>A	ENST00000333634.4	+	2	471	c.393G>A	c.(391-393)caG>caA	p.Q131Q	SH3BGR_ENST00000380634.1_Silent_p.Q20Q|SH3BGR_ENST00000380637.3_Silent_p.Q20Q|SH3BGR_ENST00000458295.1_Silent_p.Q20Q|SH3BGR_ENST00000380631.1_Silent_p.Q20Q	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	131					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		TGCCTCCCCAGATCTTCAATG	0.398000													4	32					0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1517897	1517897	+	Missense_Mutation	SNP	G	G	C	rs151165529		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:1517897G>C	ENST00000381623.3	-	3	1670	c.481C>G	c.(481-483)Cat>Gat	p.H161D	SIRPD_ENST00000381621.1_Missense_Mutation_p.H162D			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	161						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TGGGCATCATGGTGGGCCCTG	0.557000													32	161					0	0	1	0	0
SRPK2	6733	broad.mit.edu	37	7	104782675	104782675	+	Silent	SNP	G	G	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:104782675G>A	ENST00000357311.3	-	10	1461	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	SRPK2_ENST00000393651.3_Silent_p.S441S|SRPK2_ENST00000489828.1_Silent_p.S430S	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	430	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ATTGTTCATAGGAGCTGCTAT	0.413000													55	133					0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79116061	79116061	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:79116061A>G	ENST00000370747.4	+	2	266	c.181A>G	c.(181-183)Att>Gtt	p.I61V	IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	61					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AGATCATATTATTGGAGCATA	0.378000													45	160					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9404487	9404487	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:9404487C>T	ENST00000378501.2	+	24	2391	c.2376C>T	c.(2374-2376)ctC>ctT	p.L792L	PLCB4_ENST00000378473.3_Silent_p.L804L|PLCB4_ENST00000414679.2_Silent_p.L804L|PLCB4_ENST00000278655.4_Silent_p.L792L|PLCB4_ENST00000334005.3_Silent_p.L792L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Silent_p.L792L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	792					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTGATGGCCTCCAAGCCGGAT	0.448000													18	33					0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113820095	113820095	+	Silent	SNP	G	G	A	rs149664037		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:113820095G>A	ENST00000393200.2	+	5	470	c.309G>A	c.(307-309)cgG>cgA	p.R103R	IL36RN_ENST00000346807.3_Silent_p.R103R	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	103						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCTACCGGCGGGACATGGGGC	0.617000													23	78					0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109292466	109292466	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:109292466T>C	ENST00000228476.3	+	9	911	c.707T>C	c.(706-708)gTt>gCt	p.V236A	DAO_ENST00000551281.1_Missense_Mutation_p.V170A	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	236					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						ACCCAGACAGTTACTCTTGGA	0.473000													33	111					0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	130011452	130011452	+	Silent	SNP	C	C	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:130011452C>T	ENST00000263574.5	+	16	2091	c.2019C>T	c.(2017-2019)ggC>ggT	p.G673G	APLP2_ENST00000345598.5_Silent_p.G432G|APLP2_ENST00000528499.1_Silent_p.G605G|APLP2_ENST00000543137.1_Silent_p.G568G|APLP2_ENST00000338167.5_Silent_p.G661G|APLP2_ENST00000539648.1_Silent_p.G461G|APLP2_ENST00000278756.7_Silent_p.G671G	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	673					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GAGTTGGAGGCCTCGAGGAAG	0.478000													22	75					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:74575212_74575213insT	ENST00000354431.4	-	5	923_924	c.732_733insA	c.(730-735)aaagcafs	p.A245fs	LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000468759.1_5'UTR	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621).						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													8	118	---	---	---	---					
DUSP27	92235	broad.mit.edu	37	1	167095398	167095400	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:167095398_167095400delGAG	ENST00000361200.2	+	6	1196_1198	c.1030_1032delGAG	c.(1030-1032)del	p.E348del	DUSP27_ENST00000443333.1_In_Frame_Del_p.E348del|DUSP27_ENST00000271385.5_In_Frame_Del_p.E348del|DUSP27_ENST00000485151.1_3'UTR			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	348					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCTCATAGACGAGGAGGAGGAGG	0.655													4	8	---	---	---	---					
MARK1	4139	broad.mit.edu	37	1	220792013	220792013	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr1:220792013delT	ENST00000402574.1	+	9	1422	c.420delT	c.(418-420)cgfs	p.R140fs	MARK1_ENST00000366917.4_Frame_Shift_Del_p.R275fs|MARK1_ENST00000366918.4_Frame_Shift_Del_p.R253fs	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	275	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GGAAGTACCGTATTCCCTTCT	0.358													48	76	---	---	---	---					
PUS10	150962	broad.mit.edu	37	2	61169565	61169588	+	Splice_Site	DEL	CAGACTAGAAGGGAGAAAAGAAGT	CAGACTAGAAGGGAGAAAAGAAGT	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:61169565_61169588delCAGACTAGAAGGGAGAAAAGAAGT	ENST00000316752.6	-	18	1813_1816	c.1551_splice	c.e18-1	p.518_splice	PUS10_ENST00000407787.1_Splice_Site_p.518_splice	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	518					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TCAACATCTACAGACTAGAAGGGAGAAAAGAAGTCATTAAAACA	0.379													15	169	---	---	---	---					
RP11-13J8.1	0	broad.mit.edu	37	2	201967218	201967218	+	RNA	DEL	G	G	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr2:201967218delG	ENST00000448256.1	+	0	628																											aaaaaaaaaagaaTTTGTTCT	0.463													3	5	---	---	---	---					
LMCD1-AS1	100288428	broad.mit.edu	37	3	8335916	8335918	+	RNA	DEL	CCT	CCT	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr3:8335916_8335918delCCT	ENST00000420095.1	-	0	571				LMCD1-AS1_ENST00000446281.1_RNA|LMCD1-AS1_ENST00000452802.1_RNA	NR_033378.1																						tcctcgtctacctcctcctcctc	0.488													2	4	---	---	---	---					
IFRD1	3475	broad.mit.edu	37	7	112108045	112108046	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr7:112108045_112108046insA	ENST00000403825.3	+	9	1177_1178	c.916_917insA	c.(916-918)tgafs	p.*306fs	IFRD1_ENST00000005558.4_Frame_Shift_Ins_p.*306fs|IFRD1_ENST00000535603.1_Frame_Shift_Ins_p.*256fs	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	306					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GGACTTTTTTTATGAAGACATG	0.391													31	61	---	---	---	---					
CHORDC1	26973	broad.mit.edu	37	11	89956105	89956105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr11:89956105delG	ENST00000320585.6	-	1	427	c.18delC	c.(16-18)tafs	p.Y6fs	CHORDC1_ENST00000530765.1_Frame_Shift_Del_p.Y6fs|CHORDC1_ENST00000457199.2_Frame_Shift_Del_p.Y6fs	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	6	CHORD 1.|Interaction with PPP5C (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				AGCCCCGGTTGTAGCACAGCA	0.622													18	80	---	---	---	---					
CEP290	80184	broad.mit.edu	37	12	88512304	88512305	+	Frame_Shift_Ins	INS	-	-	T	rs77980773		TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr12:88512304_88512305insT	ENST00000552810.1	-	17	2009_2010	c.1666_1667insA	c.(1666-1668)tcgfs	p.S556fs	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.S558fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	556					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.I558fs*20(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATTTGACGAATTTTTTTTTTC	0.312													3	4	---	---	---	---					
NPAS3	64067	broad.mit.edu	37	14	34266732	34266733	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr14:34266732_34266733insT	ENST00000346562.2	+	10	1349_1350	c.1275_1276insT	c.(1273-1278)gacctcfs	p.L426fs	NPAS3_ENST00000551492.1_Frame_Shift_Ins_p.L463fs|NPAS3_ENST00000548645.1_Frame_Shift_Ins_p.L428fs|NPAS3_ENST00000357798.5_Frame_Shift_Ins_p.L445fs|NPAS3_ENST00000356141.4_Frame_Shift_Ins_p.L458fs	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AAACTTCCGAATCCTCGGAGAC	0.510													39	186	---	---	---	---					
GOLGA8M	653720	broad.mit.edu	37	15	28947439	28947439	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:28947439delG	ENST00000563027.1	-	18	1643	c.1644delC	c.(1642-1644)gcfs	p.A550fs						golgin A8 family, member M																		TGTGGGCAGCGGCCAGGAATT	0.607													2	4	---	---	---	---					
TGM5	9333	broad.mit.edu	37	15	43525426	43525426	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr15:43525426delT	ENST00000220420.5	-	13	2133	c.2126delA	c.(2125-2127)agfs	p.K709fs	TGM5_ENST00000349114.4_Frame_Shift_Del_p.K627fs	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	709					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CCTGTAACCCTTAATGTCCTT	0.428													31	35	---	---	---	---					
CTD-2542L18.1	0	broad.mit.edu	37	16	85627225	85627225	+	RNA	DEL	C	C	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr16:85627225delC	ENST00000567093.1	+	0	1354																											gcccctcactcccccccTACC	0.622													2	4	---	---	---	---					
EPPIN	57119	broad.mit.edu	37	20	44174297	44174297	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr20:44174297delT	ENST00000354280.4	-	2	270	c.204delA	c.(202-204)aafs	p.K68fs	EPPIN_ENST00000409554.1_Frame_Shift_Del_p.K68fs|EPPIN_ENST00000555685.1_Frame_Shift_Del_p.K68fs|EPPIN-WFDC6_ENST00000504988.1_Frame_Shift_Del_p.K68fs|EPPIN_ENST00000336443.3_Frame_Shift_Del_p.K52fs	NM_020398.3	NP_065131.1			epididymal peptidase inhibitor									p.C53fs*28(2)									GATCTAAACATTTTTTTCCGC	0.453													7	525	---	---	---	---					
SGSM1	129049	broad.mit.edu	37	22	25251026	25251026	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3JB-06A-11D-A21A-08	TCGA-EE-A3JB-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a6bd6b-723a-4d9a-ba35-d1ba420ccd82	7adaf90c-84fc-4fe6-99f3-702d1d631192	g.chr22:25251026delG	ENST00000400358.4	+	6	576	c.519delG	c.(517-519)ttfs	p.L174fs	SGSM1_ENST00000400359.4_Frame_Shift_Del_p.L174fs	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	174	RUN.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTGCATCTTTGTTGGGTAAGT	0.527													22	22	---	---	---	---