Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RLIM	51132	broad.mit.edu	37	X	73812727	73812727	+	Silent	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:73812727T>A	uc004ebu.3	-	4	713	c.423A>T	c.(421-423)atA>atT	p.I141I	RLIM_uc004ebw.3_Silent_p.I141I	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	141					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTTAACATTTATCTCTAAAC	0.408000														112			67		0	0	0.000781405	0	0
DNAH7	56171	broad.mit.edu	37	2	196682525	196682525	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:196682525G>A	uc002utj.4	-	49	9421	c.9320C>T	c.(9319-9321)cCt>cTt	p.P3107L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3107	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATTCCCTCAGGGGTTATCAT	0.343000														21			13		0	0	0.000151284	0	0
HARS2	23438	broad.mit.edu	37	5	140075147	140075147	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140075147C>T	uc003lgx.3	+	4	670	c.454C>T	c.(454-456)Cat>Tat	p.H152Y	HARS2_uc010jfv.1_Missense_Mutation_p.H82Y|HARS2_uc011czr.2_Missense_Mutation_p.H127Y|HARS2_uc011czs.2_Intron|HARS2_uc011czt.2_Intron|HARS2_uc011czu.2_Missense_Mutation_p.H11Y	NM_012208	NP_036340	P49590	SYHM_HUMAN	Homo sapiens histidyl-tRNA synthetase 2, mitochondrial (putative) (HARS2), nuclear gene encoding mitochondrial protein, mRNA.	152					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAACGTTATCATGTTGGAAA	0.473000														77			39		0	0	0.00148497	0	0
ZNF767	79970	broad.mit.edu	37	7	149317098	149317098	+	RNA	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:149317098G>A	uc003wfy.3	-	3		c.707C>T			ZNF767_uc003wfx.2_Non-coding_Transcript|ZNF767_uc011kuq.1_Non-coding_Transcript					Homo sapiens zinc finger family member 767 (ZNF767), transcript variant 2, non-coding RNA.											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			TTCAATCTGGGAGAGGACCTC	0.557000														30			14		0	0	0.000566183	0	0
DMRT2	10655	broad.mit.edu	37	9	1051680	1051680	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:1051680G>A	uc003zha.3	+	1	267	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	DMRT2_uc003zhb.4_Missense_Mutation_p.E23K|DMRT2_uc003zgy.4_Intron|DMRT2_uc011llt.2_Missense_Mutation_p.E23K|DMRT2_uc022bcw.1_Missense_Mutation_p.E23K|DMRT2_uc011llv.2_Missense_Mutation_p.E23K	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA.	23					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CCTGGAGCTGGAAGAGGACGT	0.756000														0			7		0	0	8.12818e-05	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171442	39171442	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:39171442G>A	uc004abi.3	-	7	1496	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	CNTNAP3_uc004abj.3_Silent_p.F419F|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.F419F|CNTNAP3_uc011lqs.1_Silent_p.F419F	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	419	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAAGAGGACGAAACTCCCTG	0.483000														17			35		0	0	0.000692331	0	0
HMGXB4	10042	broad.mit.edu	37	22	35660647	35660647	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:35660647C>T	uc003anl.3	+	4	440	c.266C>T	c.(265-267)tCg>tTg	p.S89L	HMGXB4_uc011amh.1_5'UTR|HMGXB4_uc003ank.3_5'UTR	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	89					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTAGATATTTCGTCTTTGGAA	0.403000														32			113		0	0	0.000781405	0	0
KIF21A	55605	broad.mit.edu	37	12	39731002	39731002	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:39731002G>A	uc001rly.3	-	16	2734	c.2314C>T	c.(2314-2316)Cgc>Tgc	p.R772C	KIF21A_uc001rlw.3_Missense_Mutation_p.R89C|KIF21A_uc001rlx.3_Missense_Mutation_p.R759C|KIF21A_uc001rlz.3_Missense_Mutation_p.R759C|KIF21A_uc010skl.2_Missense_Mutation_p.R759C	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	772					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCATTAGGCGAACCTAACCA	0.338000														33			20		0	0	0.00121646	0	0
SNAP25	6616	broad.mit.edu	37	20	10273890	10273890	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:10273890G>A	uc002wnq.2	+	4	457	c.245G>A	c.(244-246)gGa>gAa	p.G82E	SNAP25_uc002wnr.2_Intron|SNAP25_uc002wns.2_Missense_Mutation_p.G19E|SNAP25_uc010gca.2_Intron	NM_130811	NP_570824	P60880	SNP25_HUMAN	Homo sapiens synaptosomal-associated protein, 25kDa (SNAP25), transcript variant 2, mRNA.	82					energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	ACGGACCTAGGAAAATTCTGC	0.458000														51			31		0	0	0.001512	0	0
RCAN1	1827	broad.mit.edu	37	21	35893825	35893825	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:35893825G>A	uc002yue.3	-	2	630	c.558C>T	c.(556-558)ctC>ctT	p.L186L	RCAN1_uc002yuc.3_Silent_p.L105L|RCAN1_uc002yud.3_Silent_p.L51L|RCAN1_uc002yub.3_Silent_p.L131L|RCAN1_uc011adx.1_Silent_p.L131L	NM_004414	NP_004405	P53805	RCAN1_HUMAN	Homo sapiens regulator of calcineurin 1 (RCAN1), transcript variant 1, mRNA.	186					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						TGGCATATAAGAGATCATAGT	0.597000														227			160		0	0	0.000781405	0	0
RBM44	375316	broad.mit.edu	37	2	238726978	238726978	+	Silent	SNP	T	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:238726978T>G	uc002vxi.4	+	2	1551	c.1419T>G	c.(1417-1419)acT>acG	p.T473T		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	472							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ACGTTAGCACTGATTTTAGGG	0.378000														50			25		0	0	0.000720815	0	0
CDCA7	83879	broad.mit.edu	37	2	174229542	174229542	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:174229542G>A	uc002uic.1	+	5	850	c.719G>A	c.(718-720)aGg>aAg	p.R240K	CDCA7_uc002uid.1_Missense_Mutation_p.R161K|CDCA7_uc010zej.1_Missense_Mutation_p.R196K|CDCA7_uc010zek.1_Missense_Mutation_p.R119K	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	161					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			AGACCGCGAAGGCGTACATTC	0.488000														56			24		0	0	0.00178596	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236476	140236476	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140236476C>T	uc003lhx.2	+	0	843	c.843C>T	c.(841-843)agC>agT	p.S281S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.S281S|PCDHAC2_uc011dad.2_Silent_p.S281S	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	297	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCATTTAGCTCTTTGGTCC	0.358000														39			22		0	0	0.000375601	0	0
DNAH5	1767	broad.mit.edu	37	5	13891132	13891132	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:13891132G>A	uc003jfd.2	-	16	2572	c.2530C>T	c.(2530-2532)Ccc>Tcc	p.P844S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	844	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCTCCTGGGGAAGCTGACAA	0.423000									Kartagener syndrome					106			72		0	0	0.000781405	0	0
GPRC6A	222545	broad.mit.edu	37	6	117116901	117116901	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:117116901G>A	uc003pxj.1	-	4	1668	c.1646C>T	c.(1645-1647)cCt>cTt	p.P549L	GPRC6A_uc003pxk.1_Missense_Mutation_p.P374L|GPRC6A_uc003pxl.1_Missense_Mutation_p.P478L	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	549					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATGATTTTCAGGACAGTTCTG	0.358000														47			24		0	0	0.000720815	0	0
SERINC3	10955	broad.mit.edu	37	20	43129877	43129877	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:43129877G>A	uc002xme.3	-	8	1254	c.1120C>T	c.(1120-1122)Ctt>Ttt	p.L374F	SERINC3_uc002xmf.1_Missense_Mutation_p.L374F|SERINC3_uc010ggs.1_Missense_Mutation_p.L367F|SERINC3_uc010zwp.1_Missense_Mutation_p.L319F	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Homo sapiens serine incorporator 3 (SERINC3), transcript variant 2, mRNA.	374						integral to membrane|plasma membrane	protein binding	p.I373I(1)		endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GTATCACCAAGGATGACGCTG	0.512000														49			31		0	0	0.00058488	0	0
NHS	4810	broad.mit.edu	37	X	17743841	17743841	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:17743841G>A	uc011mix.2	+	6	1953	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	NHS_uc004cxx.3_Missense_Mutation_p.E518K|NHS_uc004cxy.3_Missense_Mutation_p.E362K|NHS_uc004cxz.3_Missense_Mutation_p.E341K|NHS_uc004cya.3_Missense_Mutation_p.E241K	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	518						nucleus		p.E518K(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GGGTGACCATGAAAGAACCCC	0.557000														43			22		0	0	0.000720815	0	0
ALG13	79868	broad.mit.edu	37	X	110951410	110951410	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:110951410C>T	uc011msy.2	+	3	640	c.539C>T	c.(538-540)cCt>cTt	p.P180L	ALG13_uc011msw.2_Missense_Mutation_p.P102L|ALG13_uc011msx.2_Missense_Mutation_p.P76L|ALG13_uc011msz.2_Missense_Mutation_p.P102L|ALG13_uc011mta.2_Missense_Mutation_p.P76L|ALG13_uc011mtb.2_Missense_Mutation_p.P76L	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	180					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						GCTACCCATCCTACCTGCACC	0.498000														37			11		0	0	0.00136819	0	0
ZNF99	7652	broad.mit.edu	37	19	22941413	22941413	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:22941413G>A	uc021urt.1	-	3	1453	c.1298C>T	c.(1297-1299)gCt>gTt	p.A433V		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.A432D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACGCTTAAAAGCTTTGCCACA	0.363000														32			18		0	0	0.000229342	0	0
RP1L1	94137	broad.mit.edu	37	8	10469042	10469042	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:10469042G>A	uc003wtc.3	-	3	2795	c.2566C>T	c.(2566-2568)Ccg>Tcg	p.P856S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	856					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCCTGGGCGGGGTGGGACAG	0.726000														2			5		0	0	0.00116845	0	0
TYRO3	7301	broad.mit.edu	37	15	41854889	41854889	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:41854889C>T	uc001zof.2	+	3	789	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	185	Ig-like C2-type 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGGACCCGCTCCCTCTCCATC	0.567000														10			5		0	0	0.000602214	0	0
ARMC8	25852	broad.mit.edu	37	3	137993357	137993358	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:137993357_137993358GG>TT	uc003esa.1	+	18	2021_2022	c.1654_1655GG>TT	c.(1654-1656)ggg>TTg	p.G552L	NME9_uc003esd.1_Intron|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Intron|ARMC8_uc011bmf.1_Missense_Mutation_p.G535L|ARMC8_uc011bmg.1_Missense_Mutation_p.G499L|ARMC8_uc011bmh.1_Missense_Mutation_p.G493L|ARMC8_uc003esb.1_Missense_Mutation_p.G524L|ARMC8_uc003esc.1_Missense_Mutation_p.G324L|ARMC8_uc003esf.1_Missense_Mutation_p.G135L	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	566							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TATTCTAGAAGGGGAACATAAC	0.366000														402			9		0	0	6.4e-05	0	0
KIF13B	23303	broad.mit.edu	37	8	29023289	29023289	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:29023289C>T	uc003xhh.4	-	12	1218	c.1159_splice	c.e12-1	p.A387_splice	KIF13B_uc003xhj.2_Splice_Site_p.A284_splice|KIF13B_uc010lvf.1_Splice_Site_p.A323_splice	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	387					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GATTTCATTGCCTACAAGCAA	0.428000														42			15		0	0	0.000422831	0	0
EXOC6	54536	broad.mit.edu	37	10	94594495	94594495	+	Silent	SNP	G	A	A	rs77134517	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:94594495G>A	uc010qnr.2	+	1	206	c.63G>A	c.(61-63)gcG>gcA	p.A21A	EXOC6_uc001kie.3_5'UTR	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	0					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CCTGTCGAGCGATGTTGGAAG	0.383000														50			104		0	0	0.000781405	0	0
IPO11	51194	broad.mit.edu	37	5	61832575	61832575	+	Silent	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:61832575T>C	uc011cqr.2	+	22	2386	c.2256T>C	c.(2254-2256)ggT>ggC	p.G752G	IPO11_uc003jtc.3_Silent_p.G712G|IPO11_uc003jtd.1_Non-coding_Transcript	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	712						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TCATCAATGGTTATATCTTTT	0.239000														24			19		0	0	0.00121646	0	0
NLGN1	22871	broad.mit.edu	37	3	173998905	173998905	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:173998905T>A	uc021xhm.1	+	6	2724	c.2404T>A	c.(2404-2406)Tac>Aac	p.Y802N	NLGN1_uc003fio.1_Missense_Mutation_p.Y762N|NLGN1_uc003fip.1_Missense_Mutation_p.Y762N	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	779					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.G802G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCCCCCAGATTACACACTAGC	0.468000														37			17		0	0	0.000958276	0	0
MYO1G	64005	broad.mit.edu	37	7	45005329	45005329	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:45005329C>T	uc003tmh.2	-	16	2432	c.2288G>A	c.(2287-2289)aGg>aAg	p.R763K	MYO1G_uc003tmg.2_Missense_Mutation_p.R525K|MYO1G_uc010kym.2_Missense_Mutation_p.R648K	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	763						myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGGCGGCTGCCTTGCAGCCTG	0.647000														25			13		0	0	0.00136819	0	0
KCNH7	90134	broad.mit.edu	37	2	163393558	163393558	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:163393558G>A	uc002uch.2	-	2	569	c.340C>T	c.(340-342)Cca>Tca	p.P114S	KCNH7_uc002uci.3_Missense_Mutation_p.P114S	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	114	PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTTTTCACTGGAATTATGTGA	0.353000														55			33		0	0	0.000814825	0	0
GPRASP1	9737	broad.mit.edu	37	X	101909676	101909676	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:101909676C>T	uc010nod.3	+	2	1477	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.P279S|GPRASP1_uc004ejj.4_Missense_Mutation_p.P279S|GPRASP1_uc004eji.4_Missense_Mutation_p.P279S|GPRASP1_uc022cbd.1_Missense_Mutation_p.P279S	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	279						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAGGGAAGATCCCAATAGCAG	0.473000														86			57		0	0	0.000781405	0	0
UPRT	139596	broad.mit.edu	37	X	74494208	74494208	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:74494208G>A	uc004ecb.2	+	0	315	c.119G>A	c.(118-120)gGg>gAg	p.G40E	UPRT_uc010nlu.2_Missense_Mutation_p.G40E|UPRT_uc004ecc.2_Non-coding_Transcript|UPRT_uc004ecd.2_Missense_Mutation_p.G40E	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	Homo sapiens uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) (UPRT), transcript variant 1, mRNA.	40					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						GACCACGCAGGGGGAAACAGA	0.642000														23			7		0	0	8.12818e-05	0	0
MLL	4297	broad.mit.edu	37	11	118373178	118373178	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:118373178C>T	uc001pta.3	+	26	6585	c.6562C>T	c.(6562-6564)Cga>Tga	p.R2188*	MLL_uc001ptb.3_Nonsense_Mutation_p.R2191*	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2188					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTCTGGACTTCGAAGCATTGG	0.448000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									15			18		0	0	0.00121646	0	0
FBXL19	54620	broad.mit.edu	37	16	30939897	30939897	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:30939897C>T	uc002eab.2	+	5	955	c.797C>T	c.(796-798)cCg>cTg	p.P266L	FBXL19_uc002dzz.1_5'UTR|FBXL19_uc002eaa.1_Intron	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 19 (FBXL19), mRNA.	266	Pro-rich.						DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GTTCTGAATCCGAGCCAGGCT	0.692000														7			4		0	0	0.00116845	0	0
MCF2	4168	broad.mit.edu	37	X	138669893	138669893	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:138669893G>A	uc011mwn.1	-	24	2945	c.2939C>T	c.(2938-2940)tCt>tTt	p.S980F	MCF2_uc004fav.3_Missense_Mutation_p.S851F|MCF2_uc004fau.3_Missense_Mutation_p.S835F|MCF2_uc010nsh.2_Missense_Mutation_p.S835F|MCF2_uc011mwm.2_Missense_Mutation_p.S796F|MCF2_uc011mwl.2_Missense_Mutation_p.S812F|MCF2_uc011mwo.1_Missense_Mutation_p.S911F|MCF2_uc004faw.2_Missense_Mutation_p.S895F	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	835					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTGCTGAAGAGAAATCTGAAA	0.303000														80			48		0	0	0.000781405	0	0
TRIM54	57159	broad.mit.edu	37	2	27521592	27521592	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:27521592A>G	uc002rjo.3	+	1	629	c.326A>G	c.(325-327)aAg>aGg	p.K109R	TRIM54_uc002rjn.3_Missense_Mutation_p.K109R	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	109					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACATTTACAAGCAGGAGTCA	0.547000														18			12		0	0	0.000308642	0	0
MTUS2	23281	broad.mit.edu	37	13	30066811	30066811	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:30066811G>A	uc001usl.4	+	9	3622	c.3564G>A	c.(3562-3564)aaG>aaA	p.K1188K	MTUS2_uc001usm.4_Silent_p.K157K|MTUS2_uc010aau.3_Silent_p.K67K	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	1178						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCTTGAAAAGAAAGAATTGG	0.343000														36			23		0	0	0.000720815	0	0
XIRP2	129446	broad.mit.edu	37	2	168099978	168099978	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:168099978G>A	uc002udx.3	+	8	2165	c.2076G>A	c.(2074-2076)gtG>gtA	p.V692V	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.V517V|XIRP2_uc010fpq.3_Silent_p.V470V|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	517					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						TCAAGACTGTGAGATACATGT	0.398000														35			22		0	0	0.000229342	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281446	145281446	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:145281446C>A	uc001emn.4	+	3	746	c.376C>A	c.(376-378)Cag>Aag	p.Q126K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.Q126K|NOTCH2NL_uc001emo.2_Missense_Mutation_p.Q126K|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	126	EGF-like 4.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TGTGGCCAACCAGTTCTCCTG	0.517000														855			17		0.000308642	0.0017208	0.000308642	1	0
SUGP1	57794	broad.mit.edu	37	19	19427238	19427238	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:19427238G>A	uc002nmh.3	-	1	215	c.199C>T	c.(199-201)Cct>Tct	p.P67S	SUGP1_uc002nmi.3_5'UTR|SUGP1_uc002nmj.3_5'UTR|SUGP1_uc010xqr.2_Non-coding_Transcript|SUGP1_uc010xqs.2_Non-coding_Transcript	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	67					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TACTCGCCAGGATGTGGGGGC	0.567000														23			14		0	0	0.000422831	0	0
ESRP1	54845	broad.mit.edu	37	8	95653669	95653669	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:95653669C>T	uc003ygq.4	+	0	306	c.123C>T	c.(121-123)gcC>gcT	p.A41A	ESRP1_uc003ygr.4_Silent_p.A41A|ESRP1_uc003ygs.4_Silent_p.A41A|ESRP1_uc003ygt.4_Silent_p.A41A|ESRP1_uc003ygu.4_Silent_p.A41A|LOC100288748_uc022ayh.1_5'Flank	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	41					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	p.L40L(1)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGGATCTGGCCAACAAGAAGG	0.527000														170			118		0	0	0.000781405	0	0
DDR1	780	broad.mit.edu	37	6	30860301	30860301	+	Missense_Mutation	SNP	G	A	A	rs147485952		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:30860301G>A	uc003nrv.3	+	6	1123	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	DDR1_uc010jse.3_Missense_Mutation_p.E361K|DDR1_uc003nrq.3_Missense_Mutation_p.E361K|DDR1_uc003nrr.3_Missense_Mutation_p.E361K|DDR1_uc003nrs.3_Missense_Mutation_p.E361K|DDR1_uc003nrt.3_Missense_Mutation_p.E361K|DDR1_uc011dms.2_Missense_Mutation_p.E379K|DDR1_uc003nru.3_Missense_Mutation_p.E361K|DDR1_uc003nry.2_Missense_Mutation_p.E361K|DDR1_uc003nrx.2_Missense_Mutation_p.E361K|DDR1_uc003nrw.1_Missense_Mutation_p.E160K	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	361					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.E361K(2)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	ACTCTTCAGCGAAATCTCCTT	0.567000														50			20		0	0	0.000295444	0	0
DPYD	1806	broad.mit.edu	37	1	98060686	98060687	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:98060686_98060687CC>TT	uc001drv.3	-	8	1023_1024	c.886_887GG>AA	c.(886-888)ggc>AAc	p.G296N		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	296					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTGCGTCAGGCCTTGGAAGATG	0.371000														75			34		0	0	6.4e-05	0	0
HUWE1	10075	broad.mit.edu	37	X	53575230	53575230	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:53575230A>T	uc004dsp.3	-	67	10442	c.10040T>A	c.(10039-10041)tTt>tAt	p.F3347Y	HUWE1_uc004dsn.3_Missense_Mutation_p.F2155Y	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3347					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						GTGGCTGGGAAATACCTGCCG	0.532000														13			7		0	0	8.12818e-05	0	0
ITIH2	3698	broad.mit.edu	37	10	7751130	7751130	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:7751130G>A	uc001ijs.3	+	3	500	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	113	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATCCCCAAAGGAGCATTCATT	0.453000														21			19		0	0	0.000375601	0	0
AKAP4	8852	broad.mit.edu	37	X	49958744	49958744	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:49958744G>A	uc004dow.1	-	4	744	c.620C>T	c.(619-621)tCc>tTc	p.S207F	AKAP4_uc004dou.1_Missense_Mutation_p.S198F|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.S29F	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	207					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCCATCAGGGGAAATGACTGC	0.443000														140			89		0	0	0.000781405	0	0
BAI1	575	broad.mit.edu	37	8	143570778	143570778	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:143570778C>T	uc003ywm.3	+	14	2793	c.2610C>T	c.(2608-2610)atC>atT	p.I870I		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	870					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.I870I(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTTGGAGATCGAGTTTGCCC	0.567000														42			34		0	0	0.00148497	0	0
PLSCR2	57047	broad.mit.edu	37	3	146177821	146177821	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:146177821C>T	uc021xfa.1	-	3	530	c.90G>A	c.(88-90)ggG>ggA	p.G30G	PLSCR2_uc003evw.2_Silent_p.G26G|PLSCR2_uc003evv.2_5'UTR	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	0					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						CAGCCTGTTTCCCAGTGTGTC	0.517000														5			4		0	0	0.00024832	0	0
ZNF549	256051	broad.mit.edu	37	19	58046568	58046568	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:58046568C>T	uc002qpb.2	+	2	378	c.129C>T	c.(127-129)ctC>ctT	p.L43L	ZNF549_uc002qpa.2_Silent_p.L30L	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGTGGGGCCTCCTTGATGAAG	0.493000														58			31		0	0	0.001512	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93389689	93389689	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:93389689G>A	uc001kho.3	-	1	1081	c.949C>T	c.(949-951)Cga>Tga	p.R317*		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3C (PPP1R3C), mRNA.	317							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				TTAATTCATCGATAAGAGGCC	0.473000														14			33		0	0	0.00058488	0	0
LRGUK	136332	broad.mit.edu	37	7	133943058	133943058	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:133943058C>T	uc003vrm.1	+	18	2264	c.2248C>T	c.(2248-2250)Ccg>Tcg	p.P750S		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	750							ATP binding|kinase activity	p.P750L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TCGGTTCTGTCCGTGGTCAAA	0.458000														59			66		0	0	0.000781405	0	0
CCDC102A	92922	broad.mit.edu	37	16	57562890	57562891	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:57562890_57562891CC>TT	uc002elw.3	-	1	412_413	c.199_200GG>AA	c.(199-201)ggc>AAc	p.G67N		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	67										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CTCCCAGTCGCCGTCGGCCAGC	0.802000														4			6		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9046062	9046062	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9046062C>T	uc002mkp.3	-	4	35773	c.35569G>A	c.(35569-35571)Gaa>Aaa	p.E11857K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11859	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						GTGCTGGTTTCTGTCCCTGGA	0.493000														56			33		0	0	0.00058488	0	0
ART3	419	broad.mit.edu	37	4	77003118	77003118	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:77003118G>A	uc003hjo.3	+	2	345	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	ART3_uc003hji.3_Missense_Mutation_p.E71K|ART3_uc003hjj.3_Missense_Mutation_p.E71K|ART3_uc003hjk.3_Missense_Mutation_p.E71K|ART3_uc010ija.2_Missense_Mutation_p.E71K|ART3_uc003hjn.3_Missense_Mutation_p.E71K|ART3_uc003hjp.3_Intron|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Missense_Mutation_p.E41K|ART3_uc010ijc.3_Missense_Mutation_p.E41K|ART3_uc010ijd.3_Missense_Mutation_p.E41K	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	71					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TACTGTGTGGGAAAATGCAAA	0.413000														8			26		0	0	0.000586117	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698523	111698523	+	Silent	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:111698523T>C	uc022cct.1	+	0	567	c.567T>C	c.(565-567)gcT>gcC	p.A189A	ZCCHC16_uc004epo.1_Silent_p.A189A	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	189							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGGCACTAGCTGATCCCAACC	0.468000														62			34		0	0	0.000409698	0	0
BX648926	0	broad.mit.edu	37	17	72305515	72305515	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:72305515C>T	uc002jkh.1	-	0	415	c.220G>A	c.(220-222)Ggt>Agt	p.G74S	DNAI2_uc002jkg.3_Silent_p.T445T|DNAI2_uc002jkf.3_Silent_p.T445T|DNAI2_uc010dfp.3_Non-coding_Transcript|DNAI2_uc002jki.3_Non-coding_Transcript					Homo sapiens mRNA; cDNA DKFZp686O0329 (from clone DKFZp686O0329).																		GCGATCCCACCCTCAGCTTGA	0.612000														24			11		0	0	0.000219431	0	0
SACM1L	22908	broad.mit.edu	37	3	45748372	45748372	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:45748372G>A	uc003cos.2	+	3	510	c.306G>A	c.(304-306)aaG>aaA	p.K102K	SACM1L_uc011bag.1_5'UTR|SACM1L_uc011bah.1_Intron	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	Homo sapiens SAC1 suppressor of actin mutations 1-like (yeast) (SACM1L), mRNA.	102						Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CTTATAAGAAGACAATGTTGC	0.378000														24			27		0	0	0.000720815	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297856	139297856	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:139297856C>T	uc003etj.3	-	1	191	c.151G>A	c.(151-153)Gac>Aac	p.D51N	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Missense_Mutation_p.D14N|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	51					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	p.A51V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CCATAGGTGTCGTTGACAGGA	0.572000														22			14		0	0	0.000219431	0	0
FERMT1	55612	broad.mit.edu	37	20	6088199	6088199	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:6088199A>T	uc002wmr.3	-	5	1618	c.829T>A	c.(829-831)Ttc>Atc	p.F277I	FERMT1_uc010gbt.3_Missense_Mutation_p.F20I|FERMT1_uc002wms.3_Missense_Mutation_p.F277I|FERMT1_uc002wmt.3_Missense_Mutation_p.F20I	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	277	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AAGTCGAAGAAAGAATAATAT	0.368000														20			11		0	0	0.000219431	0	0
CDK5R2	8941	broad.mit.edu	37	2	219825368	219825368	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:219825368G>A	uc002vjf.3	+	0	971	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_003936	NP_003927	Q13319	CD5R2_HUMAN	Homo sapiens cyclin-dependent kinase 5, regulatory subunit 2 (p39) (CDK5R2), mRNA.	276					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATGGGCAACGAGATCTCCTA	0.677000														68			41		0	0	0.00148497	0	0
CATSPERB	79820	broad.mit.edu	37	14	92053616	92053616	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:92053616G>A	uc001xzs.1	-	25	3202	c.3062C>T	c.(3061-3063)tCt>tTt	p.S1021F	CATSPERB_uc010aub.1_Missense_Mutation_p.S543F	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	1021					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GAAAAGTTCAGAGCCCTGTGG	0.398000														24			24		0	0	0.000339439	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110029688	110029688	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:110029688C>T	uc001dxr.3	+	3	373	c.358C>T	c.(358-360)Cct>Tct	p.P120S	ATXN7L2_uc001dxs.3_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	120										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACCTCCAGCCCCTGCCAGCTC	0.592000														150			84		0	0	0.000781405	0	0
QSER1	79832	broad.mit.edu	37	11	32995058	32995058	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:32995058C>T	uc001mty.3	+	10	5201	c.4934C>T	c.(4933-4935)aCt>aTt	p.T1645I	QSER1_uc001mtz.1_Missense_Mutation_p.T1406I|QSER1_uc001mua.3_Missense_Mutation_p.T1150I	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	1645										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AATAAGAAAACTCTAAGGACT	0.303000														35			28		0	0	0.000409698	0	0
HFM1	164045	broad.mit.edu	37	1	91859874	91859874	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:91859874G>A	uc001doa.4	-	3	369	c.270C>T	c.(268-270)ttC>ttT	p.F90F	HFM1_uc010osu.2_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Silent_p.F90F	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	90							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGGCAAACTGGAATTTTTGTG	0.308000														19			21		0	0	0.00121646	0	0
SLC34A3	142680	broad.mit.edu	37	9	140126205	140126206	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:140126205_140126206GG>AA	uc022bqf.1	+	1	272_273	c.51_52GG>AA	c.(49-54)gcggtt>gcAAtt	p.V18I	SLC34A3_uc004cmc.1_5'UTR|SLC34A3_uc011met.2_Missense_Mutation_p.V18I|SLC34A3_uc004cmf.1_Missense_Mutation_p.V18I	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.	18					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTCTGGACGCGGTTGACCTAGT	0.644000														20			31		0	0	6.4e-05	0	0
IFNA8	3445	broad.mit.edu	37	9	21409388	21409388	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:21409388C>T	uc003zpc.1	+	0	243	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_002170	NP_002161	P32881	IFNA8_HUMAN	Homo sapiens interferon, alpha 8 (IFNA8), mRNA.	71					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		ATAAACAGTTCCAGAAGGCTC	0.483000														22			35		0	0	0.000491102	0	0
LPAR4	2846	broad.mit.edu	37	X	78011169	78011169	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:78011169T>C	uc022bzj.1	+	0	803	c.803T>C	c.(802-804)gTc>gCc	p.V268A	LPAR4_uc010nme.3_Missense_Mutation_p.V268A	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	268						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TACAACTCTGTCCTCTTCTTG	0.413000														25			17		0	0	0.000422831	0	0
CXADRP2	646243	broad.mit.edu	37	15	22016322	22016322	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:22016322T>G	uc010tzk.1	-	0	557	c.395A>C	c.(394-396)aAa>aCa	p.K132T						Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA.																		ACATTTTAATTTAAAGTCACT	0.388000														23			4		0	0	8.12818e-05	0	0
PDE6C	5146	broad.mit.edu	37	10	95372779	95372779	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:95372779C>T	uc001kiu.4	+	0	435	c.297C>T	c.(295-297)ttC>ttT	p.F99F		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	99	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GCAGCATGTTCCTGTGCCGGT	0.652000														12			17		0	0	0.000566183	0	0
SEPT1	1731	broad.mit.edu	37	16	30392719	30392719	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:30392719C>G	uc002dxy.3	-	5	568	c.381G>C	c.(379-381)aaG>aaC	p.K127N	ZNF48_uc021tgi.1_Intron|ZNF48_uc021tgj.1_Intron|SEPT1_uc010veq.1_Missense_Mutation_p.K174N	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	Homo sapiens septin 1 (SEPT1), mRNA.	127					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)			CCTGGATGTTCTTCCGGTTCA	0.597000														41			25		0	0	0.000878237	0	0
MFAP5	8076	broad.mit.edu	37	12	8808044	8808044	+	Splice_Site	SNP	C	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:8808044C>A	uc001qut.1	-	5	353	c.140_splice	c.e5-1	p.N47_splice	MFAP5_uc001qus.2_Splice_Site_p.N47_splice|MFAP5_uc009zge.1_Splice_Site_p.N47_splice	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	Homo sapiens microfibrillar associated protein 5 (MFAP5), mRNA.	47						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TTCACCAGATCTGCAAAGACA	0.378000														30			12		6.31663e-08	3.54923e-07	0.000308642	1	0
OR7G3	390883	broad.mit.edu	37	19	9236949	9236949	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9236949C>T	uc010xkl.2	-	0	678	c.678G>A	c.(676-678)atG>atA	p.M226I		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V225V(1)		NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ATGGAATTTTCATGACAGAGG	0.423000														104			54		0	0	0.000781405	0	0
HMCN1	83872	broad.mit.edu	37	1	186043883	186043883	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:186043883C>T	uc001grq.1	+	52	8379	c.8150C>T	c.(8149-8151)tCc>tTc	p.S2717F	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2717	Ig-like C2-type 25.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCCTTAAATCCGATGATCAT	0.353000														29			15		0	0	0.00074312	0	0
TSPYL4	23270	broad.mit.edu	37	6	116574216	116574216	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:116574216G>A	uc003pwn.3	-	0	1046	c.956C>T	c.(955-957)tCc>tTc	p.S319F	DSE_uc011ebf.1_5'Flank|DSE_uc003pwo.1_5'Flank	NM_021648	NP_067680	Q9UJ04	TSYL4_HUMAN	Homo sapiens TSPY-like 4 (TSPYL4), mRNA.	319					nucleosome assembly	nucleus				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		CCGGCCAGAGGATCTGCGTTC	0.542000														32			14		0	0	0.000958276	0	0
INHBC	3626	broad.mit.edu	37	12	57843541	57843541	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:57843541C>T	uc001snv.1	+	1	922	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	265					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						ACGACTGGATCATCCAGCCTG	0.552000														36			8		0	0	0.000442599	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175718	143175718	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:143175718C>T	uc003wdc.1	+	0	753	c.753C>T	c.(751-753)atC>atT	p.I251I	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	251					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGTCCCTGATCATTGATGCCG	0.502000														75			54		0	0	0.000781405	0	0
OR10H2	26538	broad.mit.edu	37	19	15839424	15839424	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:15839424A>T	uc002nbm.2	+	0	591	c.571A>T	c.(571-573)Aat>Tat	p.N191Y		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GGCCTGTGGAAATAATGTACC	0.517000														52			31		0	0	0.000491102	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3397060	3397060	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:3397060C>T	uc001akg.4	+	14	2287	c.2039C>T	c.(2038-2040)cCc>cTc	p.P680L	ARHGEF16_uc001aki.3_Missense_Mutation_p.P392L|ARHGEF16_uc001akj.3_Missense_Mutation_p.P392L|ARHGEF16_uc010nzh.2_Missense_Mutation_p.P384L	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	680	SH3.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGATGGTTCCCCGAGGACTTT	0.677000														27			11		0	0	0.000151284	0	0
PIGO	84720	broad.mit.edu	37	9	35091524	35091524	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:35091524G>A	uc003zwd.3	-	6	2756	c.2360C>T	c.(2359-2361)cCc>cTc	p.P787L	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Missense_Mutation_p.P350L	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	787					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TTGAGAAGTGGGGGGGCCTGA	0.607000														13			22		0	0	0.00047179	0	0
RBL1	5933	broad.mit.edu	37	20	35668583	35668583	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:35668583G>A	uc002xgi.3	-	13	1955	c.1876C>T	c.(1876-1878)Cga>Tga	p.R626*	RBL1_uc002xgj.1_Nonsense_Mutation_p.R626*	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	626	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTGTCAGTTCGAACTTCCTTG	0.413000														65			39		0	0	0.000509022	0	0
FCRL3	115352	broad.mit.edu	37	1	157667645	157667645	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:157667645C>T	uc001fqz.4	-	4	655	c.363G>A	c.(361-363)caG>caA	p.Q121Q	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Silent_p.Q121Q|FCRL3_uc001frc.1_Silent_p.Q121Q	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	121	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGTCTTTCCCCTGACATCTCA	0.418000														57			34		0	0	0.000491102	0	0
ZNF224	7767	broad.mit.edu	37	19	44610559	44610560	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:44610559_44610560CC>TA	uc002oyh.2	+	5	563_564	c.246_247CC>TA	c.(244-249)atccaa>atTAaa	p.Q83K	LOC100379224_uc002oyi.3_Non-coding_Transcript	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	83					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GAGACAAGATCCAAACTGAGAT	0.411000														22			7		0	0	6.4e-05	0	0
LMX1A	4009	broad.mit.edu	37	1	165175136	165175136	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:165175136G>A	uc001gcz.2	-	7	1147	c.953C>T	c.(952-954)cCa>cTa	p.P318L	LMX1A_uc021pdz.1_Missense_Mutation_p.P318L|LMX1A_uc021pdy.1_Missense_Mutation_p.P69L|LMX1A_uc001gcw.2_Missense_Mutation_p.P36L	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	318						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CATCTGGGGTGGGGTGAGACC	0.572000														34			28		0	0	0.000339439	0	0
NLRP9	338321	broad.mit.edu	37	19	56249473	56249473	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:56249473C>T	uc002qly.3	-	0	296	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	90	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTCATCTCTTCCTGAGCCTTT	0.498000														313			191		0	0	0.000781405	0	0
CASR	846	broad.mit.edu	37	3	121976192	121976192	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:121976192C>T	uc003eew.4	+	2	888	c.450C>T	c.(448-450)tcC>tcT	p.S150S	CASR_uc003eev.4_Silent_p.S150S	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	150					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	p.V149I(1)		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)	CAGGCGTCTCCACGGCAGTGG	0.532000														36			25		0	0	0.00106085	0	0
SRRM2	23524	broad.mit.edu	37	16	2812815	2812815	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:2812815C>T	uc002crk.3	+	10	2835	c.2286C>T	c.(2284-2286)ctC>ctT	p.L762L	SRRM2_uc002crj.1_Silent_p.L666L|SRRM2_uc002crl.1_Silent_p.L762L|SRRM2_uc010bsu.1_Silent_p.L666L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	762	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding	p.L762F(1)|p.L762V(1)		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						GCAGGTCTCTCTCTTCACCAC	0.488000														97			48		0	0	0.000781405	0	0
DSG2	1829	broad.mit.edu	37	18	29126475	29126475	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:29126475G>A	uc002kwu.4	+	14	3314	c.3126G>A	c.(3124-3126)caG>caA	p.Q1042Q	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	1042					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CAGTAGGACAGAATGTGACAG	0.498000														44			30		0	0	0.00127121	0	0
DSC1	1823	broad.mit.edu	37	18	28728530	28728530	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:28728530C>T	uc002kwn.3	-	5	965	c.703G>A	c.(703-705)Gat>Aat	p.D235N	DSC1_uc002kwm.3_Missense_Mutation_p.D235N	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	235	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTATCATTATCATCTTCAATT	0.383000														50			38		0	0	0.000814825	0	0
RPS16	6217	broad.mit.edu	37	19	39924197	39924197	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:39924197G>A	uc002olm.3	-	2	438	c.355C>T	c.(355-357)Cca>Tca	p.P119S	RPS16_uc002olk.3_Missense_Mutation_p.S87F|RPS16_uc002oll.3_Missense_Mutation_p.S70F			P62249	RS16_HUMAN	Homo sapiens ribosomal protein S16 (RPS16), mRNA.	0					endocrine pancreas development|rRNA processing|ribosomal small subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTTGGAGATGGACTGACGGAT	0.547000														63			47		0	0	0.000781405	0	0
OR10X1	128367	broad.mit.edu	37	1	158549411	158549411	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:158549411G>A	uc010pin.2	-	0	279	c.279C>T	c.(277-279)atC>atT	p.I93I		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T92A(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TCTTGGGGACGATGGTCAGCG	0.502000														33			15		0	0	0.000308642	0	0
CHRNA2	1135	broad.mit.edu	37	8	27327415	27327415	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:27327415C>T	uc010lur.3	-	2	766	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	CHRNA2_uc011lal.2_Missense_Mutation_p.G53S|CHRNA2_uc010lus.3_5'UTR	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	53						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GTATGCGAGCCTCCCTGCGGC	0.627000														36			22		0	0	0.000375601	0	0
MYLK3	91807	broad.mit.edu	37	16	46774025	46774025	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:46774025G>A	uc002eei.4	-	1	628	c.512C>T	c.(511-513)cCa>cTa	p.P171L	MYLK3_uc010vge.2_5'UTR|MYLK3_uc002eej.1_5'Flank	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	171					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CACATGCTTTGGTTTTCCTCC	0.453000														63			50		0	0	0.000781405	0	0
NOTCH2	4853	broad.mit.edu	37	1	120469126	120469126	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:120469126G>A	uc001eik.3	-	23	4298	c.4001C>T	c.(4000-4002)cCc>cTc	p.P1334L		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1334	EGF-like 34.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTTACCGGGGGACAACGGCA	0.488000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					118			55		0	0	0.000781405	0	0
NAV3	89795	broad.mit.edu	37	12	78400636	78400636	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:78400636C>T	uc001syp.3	+	7	1491	c.1318C>T	c.(1318-1320)Ccc>Tcc	p.P440S	NAV3_uc001syo.3_Missense_Mutation_p.P440S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	440						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAATAGCAGTCCCAAAGTGTC	0.423000										HNSCC(70;0.22)				64			36		0	0	0.000814825	0	0
ASPG	374569	broad.mit.edu	37	14	104571006	104571006	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:104571006G>A	uc001yop.2	+	8	1069	c.984G>A	c.(982-984)gaG>gaA	p.E328E	ASPG_uc001yoo.2_Silent_p.E356E|ASPG_uc001yoq.2_Silent_p.E328E|ASPG_uc001yor.2_Silent_p.E328E	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	328	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TGACATCGGAGGCCGCCCTGG	0.692000														27			15		0	0	0.000219431	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783859	149783859	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:149783859G>A	uc010pbk.2	-	0	70	c.20C>T	c.(19-21)tCc>tTc	p.S7F	HIST2H2BF_uc010pbj.2_Missense_Mutation_p.S7F|HIST2H2BF_uc001esr.3_Missense_Mutation_p.S7F	NM_001024599	NP_001019770	Q5QNW6	H2B2F_HUMAN	Homo sapiens histone cluster 2, H2bf (HIST2H2BF), transcript variant 1, mRNA.	7					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					AGCAGGAGCGGATTTCGCTGG	0.502000														72			37		0	0	0.000781405	0	0
KIAA1328	57536	broad.mit.edu	37	18	34647216	34647216	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:34647216C>T	uc002kzz.3	+	6	962	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	KIAA1328_uc002lab.3_Missense_Mutation_p.R30C|KIAA1328_uc002lac.1_Missense_Mutation_p.R137C|KIAA1328_uc002lad.3_Missense_Mutation_p.R30C	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	314								p.D313N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TGCTGCAGATCGTGTTCATGA	0.458000														39			21		0	0	0.000375601	0	0
AMHR2	269	broad.mit.edu	37	12	53819505	53819505	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:53819505G>A	uc001scx.2	+	5	734	c.654G>A	c.(652-654)tgG>tgA	p.W218*	AMHR2_uc009zmy.2_Nonsense_Mutation_p.W218*|AMHR2_uc021qyg.1_Nonsense_Mutation_p.W218*	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	218	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CAGTGGTTTGGGCCGGGCAGC	0.582000														14			7		0	0	0.000274275	0	0
RPGR	6103	broad.mit.edu	37	X	38128894	38128894	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:38128894G>A	uc004deb.3	-	18	2601	c.2433C>T	c.(2431-2433)tcC>tcT	p.S811S	RPGR_uc004dea.3_Non-coding_Transcript|RPGR_uc004dec.3_Non-coding_Transcript	NM_000328	NP_000319	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant A, mRNA.	1016	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GTATTGTACAGGATTTTGATC	0.294000														73			31		0	0	0.000692331	0	0
NPY1R	4886	broad.mit.edu	37	4	164247362	164247362	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:164247362C>A	uc003iqm.2	-	1	810	c.345G>T	c.(343-345)ttG>ttT	p.L115F	NPY1R_uc021xtv.1_Missense_Mutation_p.L115F|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	115					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)				CAAAAGGATTCAACTTACACA	0.443000														9			10		1.58986e-06	8.92627e-06	0.000673444	1	0
CEACAM16	388551	broad.mit.edu	37	19	45211244	45211244	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:45211244A>T	uc010xxd.2	+	5	1258	c.1052A>T	c.(1051-1053)tAc>tTc	p.Y351F		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	351										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TACGCCTGGTACCGCGGGCCT	0.692000														63			16		0	0	0.000958276	0	0
C1orf150	148823	broad.mit.edu	37	1	247737496	247737496	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:247737496C>T	uc001idf.3	+	4	367	c.220C>T	c.(220-222)Cac>Tac	p.H74Y	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	74										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGTCATTAATCACATCCCCCA	0.443000														96			32		0	0	0.00178596	0	0
LGR5	8549	broad.mit.edu	37	12	71978211	71978211	+	Silent	SNP	G	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:71978211G>T	uc001swl.3	+	17	2469	c.2421G>T	c.(2419-2421)gtG>gtT	p.V807V	LGR5_uc001swm.3_Silent_p.V783V|LGR5_uc021rar.1_Silent_p.V735V|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	807						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCTTCTGGTGGTAGTCCCAC	0.433000														513			11		0.00136819	0.00758133	0.00136819	1	0
C14orf49	161176	broad.mit.edu	37	14	95903214	95903214	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:95903214G>A	uc001yei.4	-	13	2496	c.2481C>T	c.(2479-2481)atC>atT	p.I827I	C14orf49_uc010avi.3_Silent_p.I822I	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	827					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		TCATTGCGATGATTCTAACCA	0.493000														73			37		0	0	0.00170553	0	0
CD6	923	broad.mit.edu	37	11	60785429	60785429	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:60785429C>T	uc001nqq.3	+	10	2006	c.1781C>T	c.(1780-1782)tCc>tTc	p.S594F	CD6_uc001nqp.3_Missense_Mutation_p.S594F|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.S562F|CD6_uc001nqt.3_Missense_Mutation_p.S553F	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	594					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GAGAGGAGTTCCTTCCTGGAG	0.577000														13			20		0	0	0.000229342	0	0
OR6C68	403284	broad.mit.edu	37	12	55886239	55886239	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:55886239C>T	uc010spo.2	+	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TTCTGCTTTTCATGTTTCTAT	0.413000														62			47		0	0	0.000781405	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964174	94964174	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:94964174C>T	uc001ydj.3	-	2	1357	c.561G>A	c.(559-561)ggG>ggA	p.G187G		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	187					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TGTTAATTTTCCCATGGGTTT	0.403000														82			31		0	0	0.00178596	0	0
OR2T4	127074	broad.mit.edu	37	1	248525185	248525185	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:248525185G>A	uc001ieh.1	+	0	303	c.303G>A	c.(301-303)atG>atA	p.M101I		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			TGTCTCTCATGGACATGGCGT	0.502000														216			63		0	0	0.000781405	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97388165	97388166	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:97388165_97388166CC>TT	uc001kkz.3	-	7	1134_1135	c.892_893GG>AA	c.(892-894)gga>AAa	p.G298K	ALDH18A1_uc001kky.3_Missense_Mutation_p.G296K|ALDH18A1_uc010qog.2_Missense_Mutation_p.G187K|ALDH18A1_uc010qoh.2_Missense_Mutation_p.G86K	NM_002860	NP_002851	P54886	P5CS_HUMAN	Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	298	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	AGACTTGGTTCCAAATGTCACA	0.416000														48			50		0	0	6.4e-05	0	0
RHOB	388	broad.mit.edu	37	2	20647414	20647414	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:20647414A>C	uc002rdv.3	+	0	580	c.188A>C	c.(187-189)cAg>cCg	p.Q63P		NM_004040	NP_004031	P62745	RHOB_HUMAN	Homo sapiens ras homolog gene family, member B (RHOB), mRNA.	63					Rho protein signal transduction|angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		ACGGCGGGCCAGGAGGACTAC	0.647000														37			17		0	0	0.000566183	0	0
OR10P1	121130	broad.mit.edu	37	12	56031458	56031459	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:56031458_56031459CC>TT	uc010spq.2	+	0	783_784	c.783_784CC>TT	c.(781-786)atccgg>atTTgg	p.R262W		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I261I(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TCACCTACATCCGGCCGCAGGC	0.579000														55			27		0	0	6.4e-05	0	0
SCN1A	6323	broad.mit.edu	37	2	166859089	166859089	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:166859089G>A	uc002udo.4	-	22	4404	c.4177C>T	c.(4177-4179)Cat>Tat	p.H1393Y	SCN1A_uc010fpk.3_Missense_Mutation_p.H1365Y|SCN1A_uc021vsb.1_Missense_Mutation_p.H1382Y	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1393						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)	CAATCAGTATGATTATTCACG	0.363000														39			24		0	0	0.000586117	0	0
PLEC	5339	broad.mit.edu	37	8	145001455	145001455	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:145001455G>A	uc003zaf.1	-	27	4386	c.4216C>T	c.(4216-4218)Cag>Tag	p.Q1406*	PLEC_uc003zab.1_Nonsense_Mutation_p.Q1269*|PLEC_uc003zac.1_Nonsense_Mutation_p.Q1273*|PLEC_uc003zad.2_Nonsense_Mutation_p.Q1269*|PLEC_uc003zae.1_Nonsense_Mutation_p.Q1237*|PLEC_uc003zag.1_Nonsense_Mutation_p.Q1247*|PLEC_uc003zah.2_Nonsense_Mutation_p.Q1255*|PLEC_uc003zaj.2_Nonsense_Mutation_p.Q1296*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1406	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAAACCTCTGGCACTCCTCG	0.667000														78			35		0	0	0.00148497	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19418703	19418704	+	Silent	DNP	CC	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:19418703_19418704CC>TT	uc001reb.3	+	7	738_739	c.630_631CC>TT	c.(628-633)atcctg>atTTtg	p.210_211IL>IL	PLEKHA5_uc010sie.2_Silent_p.210_211IL>IL|PLEKHA5_uc001rea.3_Silent_p.210_211IL>IL|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc010sig.2_Silent_p.102_103IL>IL|PLEKHA5_uc010sih.1_Silent_p.102_103IL>IL|PLEKHA5_uc021qvy.1_Silent_p.102_103IL>IL	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	210	PH.						1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGAGGGTATCCTGGGAAGCAT	0.317000														89			36		0	0	6.4e-05	0	0
HSD11B1L	374875	broad.mit.edu	37	19	5687897	5687897	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:5687897C>T	uc002mcp.3	+	6	952	c.400C>T	c.(400-402)Ccg>Tcg	p.P134S	HSD11B1L_uc002mck.3_Intron|HSD11B1L_uc002mcu.3_Missense_Mutation_p.P134S|HSD11B1L_uc002mcn.3_Missense_Mutation_p.P268S|HSD11B1L_uc002mco.3_Missense_Mutation_p.P181S|HSD11B1L_uc002mcr.3_Missense_Mutation_p.P187S|HSD11B1L_uc002mcq.3_Intron|HSD11B1L_uc010dug.3_Missense_Mutation_p.P315S|HSD11B1L_uc002mct.3_Missense_Mutation_p.P134S|HSD11B1L_uc002mcl.3_Intron|RPL36_uc002mcv.3_5'Flank|RPL36_uc002mcw.3_5'Flank	NM_198708	NP_941997	Q7Z5J1	DHI1L_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1-like (HSD11B1L), transcript variant d, mRNA.	0						extracellular region	binding|oxidoreductase activity										GCGCTGGCTACCGCGCCCGCG	0.731000														3			3		0	0	0.00024832	0	0
MORC4	79710	broad.mit.edu	37	X	106186394	106186394	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:106186394C>T	uc004emu.4	-	14	2002	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Missense_Mutation_p.R576Q|MORC4_uc004emw.4_Missense_Mutation_p.R324Q	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	576							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GAGCCTTCTTCGTTTCTCCAC	0.438000														82			46		0	0	0.000781405	0	0
OR7D4	125958	broad.mit.edu	37	19	9325046	9325046	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9325046G>A	uc002mla.2	-	0	502	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TATGAACCAGGGAGAACCAGA	0.527000														45			14		0	0	0.000219431	0	0
FAM194A	131831	broad.mit.edu	37	3	150404140	150404140	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:150404140C>T	uc003eyg.3	-	4	611	c.554_splice	c.e4-1	p.R185_splice	FAM194A_uc003eyh.3_Splice_Site_p.R39_splice	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	185										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGGCTTTCTTCCCTGTGAAAA	0.363000														39			27		0	0	0.001512	0	0
CACNG4	27092	broad.mit.edu	37	17	65026931	65026931	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:65026931C>T	uc002jft.2	+	3	843	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA.	265					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GCCTGAAGATCACAGGGGCCA	0.677000														21			16		0	0	0.000308642	0	0
FEM1A	55527	broad.mit.edu	37	19	4792820	4792820	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:4792820C>T	uc002mbf.3	+	0	1093	c.954C>T	c.(952-954)gcC>gcT	p.A318A	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	318					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGCTTGGGGCCCTTAAACACT	0.597000														20			12		0	0	0.00136819	0	0
SEMA3F	6405	broad.mit.edu	37	3	50223737	50223737	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:50223737G>A	uc003cyj.3	+	16	1967	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q	SEMA3F_uc003cyk.3_Missense_Mutation_p.R559Q	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	590					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAGGACGTCCGGCACGGAAAC	0.637000														17			15		0	0	0.00121646	0	0
KCNAB3	9196	broad.mit.edu	37	17	7827774	7827774	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:7827774G>A	uc002gjm.1	-	8	670	c.670C>T	c.(670-672)Cta>Tta	p.L224L	KCNAB3_uc010vul.1_Non-coding_Transcript	NM_004732	NP_004723	O43448	KCAB3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 3 (KCNAB3), mRNA.	224						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.L224I(2)		breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CCCCAGTATAGGGCCAGGCCC	0.557000														28			16		0	0	0.00074312	0	0
ERN2	10595	broad.mit.edu	37	16	23718180	23718180	+	Missense_Mutation	SNP	G	A	A	rs148177655	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:23718180G>A	uc002dma.4	-	5	695	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	ERN2_uc010bxp.3_Missense_Mutation_p.R176W|ERN2_uc010bxq.1_5'UTR	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	128					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCCTGCTTCCGGCCTGTGGAG	0.592000														21			21		0	0	0.00121646	0	0
WISP1	8840	broad.mit.edu	37	8	134232969	134232969	+	Silent	SNP	C	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:134232969C>A	uc003yub.3	+	2	601	c.495C>A	c.(493-495)ctC>ctA	p.L165L	WISP1_uc003yuc.3_Intron|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	165	VWFC.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCCCGCGTCTCTGGTGCCCCC	0.672000														27			20		0.000295444	0.00164849	0.000295444	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187702078	187702078	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:187702078G>A	uc002upu.1	-	4	738	c.698C>T	c.(697-699)cCc>cTc	p.P233L		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	233					apoptosis		zinc ion binding	p.I232T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTTATTACAGGGAATCCCAAG	0.353000														43			19		0	0	0.00121646	0	0
HEY2	23493	broad.mit.edu	37	6	126080650	126080650	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:126080650G>A	uc003qad.3	+	4	907	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	HEY2_uc011ebr.2_Missense_Mutation_p.R193Q	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	239					Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	RNA polymerase II activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCAGCCCTCCGAATGCCATCC	0.657000														105			55		0	0	0.000781405	0	0
COL4A3	1285	broad.mit.edu	37	2	228104886	228104886	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:228104886G>A	uc002vom.2	+	2	334	c.172G>A	c.(172-174)Ggt>Agt	p.G58S	BC035052_uc002voq.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	58	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TGGACCCCCCGGTTCTCCTGG	0.522000														13			6		0	0	0.000274275	0	0
NDRG4	65009	broad.mit.edu	37	16	58538325	58538325	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:58538325G>A	uc002enm.3	+	6	808	c.467_splice	c.e6+1	p.G156_splice	NDRG4_uc002enk.3_Splice_Site_p.G136_splice|NDRG4_uc010vif.2_Splice_Site_p.G136_splice|NDRG4_uc002eno.3_Splice_Site_p.G104_splice|NDRG4_uc010cdk.3_Splice_Site_p.G122_splice|NDRG4_uc010vig.2_Splice_Site_p.G134_splice|NDRG4_uc010vih.2_Splice_Site_p.G49_splice|NDRG4_uc010vii.2_Splice_Site_p.G122_splice|NDRG4_uc002enp.3_Splice_Site_p.G104_splice|NDRG4_uc002enq.1_5'Flank	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	104					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CAGCATTTCGGGTGAGTCCCC	0.682000														33			24		0	0	0.001512	0	0
NLRP8	126205	broad.mit.edu	37	19	56466093	56466093	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:56466093G>A	uc002qmh.3	+	2	740	c.669G>A	c.(667-669)gtG>gtA	p.V223V	NLRP8_uc010etg.3_Silent_p.V223V	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	223	NACHT.					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)		CCAAAAAGGTGATGTTTGAGT	0.532000														28			15		0	0	0.000219431	0	0
ASAH2	56624	broad.mit.edu	37	10	51974589	51974589	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:51974589C>T	uc001jjd.3	-	7	1054	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	ASAH2_uc009xos.3_Missense_Mutation_p.D352N	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	352					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						GGGGACACATCTCCTAGGTTT	0.448000														26			18		0	0	0.00121646	0	0
CACNA1G	8913	broad.mit.edu	37	17	48701370	48701370	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:48701370C>T	uc002irk.1	+	35	6535	c.6163C>T	c.(6163-6165)Cgg>Tgg	p.R2055W	CACNA1G_uc002irj.1_Missense_Mutation_p.R1928W|CACNA1G_uc002irl.1_Missense_Mutation_p.R1939W|CACNA1G_uc002irm.1_Missense_Mutation_p.R1976W|CACNA1G_uc002irn.1_Missense_Mutation_p.R1921W|CACNA1G_uc002iro.1_Missense_Mutation_p.R1928W|CACNA1G_uc002irp.1_Missense_Mutation_p.R2010W|CACNA1G_uc002irq.1_Missense_Mutation_p.R2032W|CACNA1G_uc002irr.1_Missense_Mutation_p.R1962W|CACNA1G_uc002irs.1_Missense_Mutation_p.R1999W|CACNA1G_uc002irt.1_Missense_Mutation_p.R1944W|CACNA1G_uc002iru.1_Missense_Mutation_p.R2021W|CACNA1G_uc002irv.1_Missense_Mutation_p.R1951W|CACNA1G_uc002irw.1_Missense_Mutation_p.R1984W|CACNA1G_uc002irx.1_Missense_Mutation_p.R1875W|CACNA1G_uc002iry.1_Missense_Mutation_p.R1864W|CACNA1G_uc002isg.1_Missense_Mutation_p.R1823W|CACNA1G_uc002ish.1_Missense_Mutation_p.R1830W|CACNA1G_uc002isi.1_Missense_Mutation_p.R1818W|CACNA1G_uc002irz.1_Missense_Mutation_p.R1868W|CACNA1G_uc002isa.1_Missense_Mutation_p.R1841W|CACNA1G_uc002isd.1_Missense_Mutation_p.R1850W|CACNA1G_uc002isb.1_Missense_Mutation_p.R1882W|CACNA1G_uc002isc.1_Missense_Mutation_p.R1957W|CACNA1G_uc002ise.1_Missense_Mutation_p.R1878W|CACNA1G_uc002isf.1_Missense_Mutation_p.R1905W	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	2055					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTACATGTGTCGGCATGGGAG	0.637000														30			20		0	0	0.00121646	0	0
CIR1	9541	broad.mit.edu	37	2	175243705	175243705	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:175243705G>A	uc002uim.3	-	6	523	c.430C>T	c.(430-432)Cct>Tct	p.P144S	CIR1_uc002uin.3_Silent_p.V8V	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	Homo sapiens corepressor interacting with RBPJ, 1 (CIR1), mRNA.	144					RNA splicing|mRNA processing|negative regulation of transcription, DNA-dependent	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P144H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						CCAAACAAAGGACATTCTCGA	0.403000														53			27		0	0	0.000720815	0	0
PLCH1	23007	broad.mit.edu	37	3	155215185	155215185	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:155215185G>A	uc021xge.1	-	13	2059	c.1782C>T	c.(1780-1782)acC>acT	p.T594T	PLCH1_uc021xgd.1_Silent_p.T594T|PLCH1_uc021xgf.1_Silent_p.T576T	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	594					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGAGCTTCATGGTTTTCCTTC	0.468000														59			28		0	0	0.00178596	0	0
GNAS	2778	broad.mit.edu	37	20	57428697	57428697	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:57428697G>A	uc002xzw.3	+	0	662	c.377G>A	c.(376-378)gGg>gAg	p.G126E	GNAS-AS1_uc002xzs.2_5'Flank|GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TTCCCCAGTGGGGTCCATGCA	0.632000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				28			9		0	0	0.000673444	0	0
RERE	473	broad.mit.edu	37	1	8716118	8716118	+	Missense_Mutation	SNP	G	A	A	rs139888880	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:8716118G>A	uc001ape.3	-	2	1049	c.239C>T	c.(238-240)cCg>cTg	p.P80L	RERE_uc001apf.3_Missense_Mutation_p.P80L|RERE_uc001aph.1_Missense_Mutation_p.P80L	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	80					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P80Q(2)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTTTTTTTTCGGTGGTTTCTT	0.443000														162			90		0	0	0.000781405	0	0
KRT19P2	160313	broad.mit.edu	37	12	95228349	95228349	+	RNA	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:95228349A>T	uc001tdk.2	+	0		c.176A>T								Homo sapiens keratin 19 pseudogene 2 (KRT19P2), non-coding RNA.																		CCTGGCCAGGACTGATCTGGA	0.522000														7			9		0	0	0.000442599	0	0
CYP4B1	1580	broad.mit.edu	37	1	47276530	47276530	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:47276530C>T	uc001cqn.4	+	1	315	c.231C>T	c.(229-231)ttC>ttT	p.F77F	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Silent_p.F77F|CYP4B1_uc009vym.3_Silent_p.F77F|CYP4B1_uc010omk.2_Intron|CYP4B1_uc010oml.1_5'Flank	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	77					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCCACCAGTTCCCGTATGCCC	0.552000														27			15		0	0	0.000308642	0	0
TMTC1	83857	broad.mit.edu	37	12	29786178	29786178	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:29786178G>A	uc021qwi.1	-	5	1089	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S	TMTC1_uc001riz.3_5'UTR|TMTC1_uc001rja.3_Missense_Mutation_p.P80S|TMTC1_uc001rjb.3_Missense_Mutation_p.P236S|TMTC1_uc001rjc.1_Missense_Mutation_p.P298S	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	344						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TCTACCAGAGGAATACTGCCG	0.507000														50			34		0	0	0.000491102	0	0
MAGI2	9863	broad.mit.edu	37	7	77708295	77708295	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:77708295G>A	uc003ugx.3	-	20	3929	c.3675C>T	c.(3673-3675)ctC>ctT	p.L1225L	MAGI2_uc003ugy.3_Silent_p.L1211L|MAGI2_uc010ldx.1_Silent_p.L818L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1225	PDZ 6.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGCCTCTCTTGAGCAGCAGCC	0.433000														117			66		0	0	0.000781405	0	0
DCUN1D5	84259	broad.mit.edu	37	11	102937231	102937231	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:102937231G>A	uc001phm.3	-	4	750	c.407C>T	c.(406-408)tCg>tTg	p.S136L	DCUN1D5_uc010ruw.2_Missense_Mutation_p.S67L	NM_032299	NP_115675	Q9BTE7	DCNL5_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae) (DCUN1D5), mRNA.	136	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		CTTAAATGACGAAATATCATT	0.303000														14			18		0	0	0.000229342	0	0
MYLK	4638	broad.mit.edu	37	3	123401111	123401111	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:123401111C>T	uc003ego.3	-	19	3894	c.3612G>A	c.(3610-3612)cgG>cgA	p.R1204R	MYLK_uc011bjv.2_Silent_p.R4R|MYLK_uc011bjw.2_Silent_p.R1204R|MYLK_uc003egp.3_Silent_p.R1135R|MYLK_uc003egq.3_Silent_p.R1204R|MYLK_uc003egr.3_Silent_p.R1135R|MYLK_uc003egs.3_Silent_p.R1028R|MYLK_uc003egt.3_Silent_p.R395R	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1204	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTTGGGCCTCCGGGATTTCA	0.562000														8			7		0	0	0.000442599	0	0
CDH17	1015	broad.mit.edu	37	8	95186178	95186178	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:95186178C>T	uc003ygh.2	-	6	755	c.630G>A	c.(628-630)gtG>gtA	p.V210V	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.V210V	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	210	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCACTGAGATCACCAGATTAT	0.443000														27			20		0	0	0.00152264	0	0
GLP1R	2740	broad.mit.edu	37	6	39040774	39040774	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:39040774G>A	uc003ooj.4	+	5	706	c.646G>A	c.(646-648)Ggg>Agg	p.G216R	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	216					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CCAGTGGGATGGGCTCCTCTC	0.617000														35			14		0	0	0.00074312	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43862502	43862502	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:43862502G>A	uc010skx.2	-	7	1124	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	375	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding	p.S375L(3)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACCTAAATATGATAAACCTGA	0.308000														34			29		0	0	0.001512	0	0
NRK	203447	broad.mit.edu	37	X	105150462	105150462	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:105150462C>T	uc004emd.3	+	10	1204	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	301	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTCCTGTTTCGTCCTACTTC	0.363000										HNSCC(51;0.14)				12			8		0	0	0.000157383	0	0
CD209	30835	broad.mit.edu	37	19	7810954	7810954	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:7810954G>A	uc002mht.2	-	3	265	c.198C>T	c.(196-198)tcC>tcT	p.S66S	CD209_uc010xju.1_Silent_p.S66S|CD209_uc010dvp.2_Silent_p.S42S|CD209_uc002mhr.2_Silent_p.S42S|CD209_uc002mhs.2_Silent_p.S42S|CD209_uc002mhu.2_Silent_p.S66S|CD209_uc010dvq.2_Silent_p.S66S|CD209_uc002mhq.2_Silent_p.S66S|CD209_uc002mhv.2_Silent_p.S42S|CD209_uc002mhx.2_Silent_p.S22S|CD209_uc002mhw.2_Silent_p.S22S|CD209_uc010dvr.2_Silent_p.S66S	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	66					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|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 membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTGACTTATGGAGCTGGGGA	0.502000														92			39		0	0	0.000509022	0	0
NEU1	4758	broad.mit.edu	37	6	31829067	31829067	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:31829067C>A	uc003nxq.4	-	2	669	c.513G>T	c.(511-513)ttG>ttT	p.L171F		NM_000434	NP_000425	Q99519	NEUR1_HUMAN	Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	171						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	TGCTCCATACCAACATGGTAG	0.537000														299			9		3.86212e-05	0.000215662	0.000673444	1	0
NOTCH2	4853	broad.mit.edu	37	1	120508126	120508127	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:120508126_120508127CC>AA	uc001eik.3	-	9	1927_1928	c.1630_1631GG>TT	c.(1630-1632)ggg>TTg	p.G544L	NOTCH2_uc001eil.3_Missense_Mutation_p.G544L|NOTCH2_uc021osy.1_Missense_Mutation_p.G505L|NOTCH2_uc001eim.4_Missense_Mutation_p.G461L	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	544	EGF-like 14; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.G544W(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACACTTTGCCCCATTCAGACAC	0.446000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					378			9		0	0	6.4e-05	0	0
SCN9A	6335	broad.mit.edu	37	2	167162390	167162390	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:167162390T>A	uc010fpl.3	-	4	849	c.508A>T	c.(508-510)Aaa>Taa	p.K170*	SCN9A_uc002udr.1_Nonsense_Mutation_p.K41*|SCN9A_uc002uds.1_Nonsense_Mutation_p.K41*|SCN9A_uc002udt.1_Nonsense_Mutation_p.K41*	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	170						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCAAGGATTTTTACAAGTGAT	0.373000														35			28		0	0	0.000720815	0	0
A2M	2	broad.mit.edu	37	12	9266120	9266120	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:9266120G>A	uc001qvk.1	-	1	219	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	36					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AGCAGGGAGGGGACCAGAACC	0.493000														48			28		0	0	0.000491102	0	0
MCM2	4171	broad.mit.edu	37	3	127336175	127336175	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:127336175C>T	uc003ejp.3	+	10	1884	c.1827C>T	c.(1825-1827)atC>atT	p.I609I	MCM2_uc011bkm.2_Silent_p.I479I|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.I562I	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	609	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						AACAGAGCATCTCCATCTCGA	0.582000														20			14		0	0	0.000958276	0	0
CENPF	1063	broad.mit.edu	37	1	214819674	214819674	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:214819674C>T	uc001hkm.3	+	12	6935	c.6761C>T	c.(6760-6762)tCt>tTt	p.S2254F		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2350	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|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)		AAAGAAGAATCTAAAACTGCA	0.398000														127			35		0	0	0.00111076	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985627	142985627	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:142985627C>T	uc003evn.3	-	15	2064	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	619					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.K618K(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TAAATGTTTTCCTTGCCTGGC	0.502000														49			39		0	0	0.00170553	0	0
NUDT7	283927	broad.mit.edu	37	16	77775602	77775602	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:77775602C>T	uc010chd.3	+	3	563	c.472C>T	c.(472-474)Cat>Tat	p.H158Y	NUDT7_uc021tlp.1_3'UTR|NUDT7_uc021tlq.1_Missense_Mutation_p.H143Y|NUDT7_uc010vnj.2_Missense_Mutation_p.H105Y	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 7 (NUDT7), transcript variant 1, mRNA.	158	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TCCACAGGTCCATGACCAGCA	0.468000														60			36		0	0	0.000374591	0	0
EPPK1	83481	broad.mit.edu	37	8	144941698	144941698	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:144941698C>T	uc003zaa.1	-	0	5737	c.5724G>A	c.(5722-5724)agG>agA	p.R1908R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1908						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCATGACCTCCCTGGTGGAGG	0.657000														10			10		0	0	0.000673444	0	0
TPTE	7179	broad.mit.edu	37	21	10973727	10973727	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:10973727C>T	uc002yip.1	-	3	375	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.E3K|TPTE_uc002yir.1_Missense_Mutation_p.E3K|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	3					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)		ACTCACCTTTCATTCATACGT	0.373000														77			20		0	0	0.00152264	0	0
DNAH11	8701	broad.mit.edu	37	7	21628202	21628203	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:21628202_21628203GT>AA	uc003svc.3	+	10	1952_1953	c.1921_1922GT>AA	c.(1921-1923)gtt>AAt	p.V641N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	641	Stem (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						GGCCCAGCAGGTTCTCCAACGA	0.406000									Kartagener syndrome					73			111		0	0	6.4e-05	0	0
CELSR2	1952	broad.mit.edu	37	1	109807531	109807531	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:109807531C>T	uc001dxa.4	+	11	5567	c.5506C>T	c.(5506-5508)Ccg>Tcg	p.P1836S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1836	EGF-like 6; calcium-binding.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGACCTGAACCCGTGTGAGCA	0.567000														279			158		0	0	0.000781405	0	0
SEC23A	10484	broad.mit.edu	37	14	39536465	39536465	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:39536465G>A	uc001wup.1	-	9	1362	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	SEC23A_uc010tqa.1_Missense_Mutation_p.S242F|SEC23A_uc010tqb.1_Missense_Mutation_p.S351F|SEC23A_uc010tqc.1_Missense_Mutation_p.S242F	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	380					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	p.T379A(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTTGAATAAGGAAGTATTGAA	0.358000														60			22		0	0	0.000295444	0	0
MLXIPL	51085	broad.mit.edu	37	7	73012022	73012022	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:73012022G>A	uc003tyn.1	-	8	1141	c.1093C>T	c.(1093-1095)Ccc>Tcc	p.P365S	MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Missense_Mutation_p.P365S|MLXIPL_uc003tym.1_Missense_Mutation_p.P365S|MLXIPL_uc003tyl.1_Missense_Mutation_p.P365S|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.P272S|MLXIPL_uc003tyq.1_Missense_Mutation_p.P107S	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	365					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GAGTCCAAGGGGCCAGGGCAG	0.647000														23			21		0	0	0.000586117	0	0
COL5A2	1290	broad.mit.edu	37	2	189904289	189904289	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:189904289C>T	uc002uqk.3	-	51	3909	c.3634_splice	c.e51-1	p.G1212_splice	COL5A2_uc010frx.3_Splice_Site_p.G788_splice	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1212					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGGAGGGCCCTAATTAAAA	0.483000														33			13		0	0	0.000151284	0	0
PDZD2	23037	broad.mit.edu	37	5	32058184	32058184	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:32058184C>T	uc003jhl.3	+	11	2563	c.2175C>T	c.(2173-2175)atC>atT	p.I725I	PDZD2_uc003jhm.3_Silent_p.I725I|PDZD2_uc011cnx.1_Silent_p.I551I	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	725					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						AGGACAGGATCGTCATGGAAG	0.483000														22			16		0	0	0.00152264	0	0
SLC24A3	57419	broad.mit.edu	37	20	19664827	19664827	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:19664827C>T	uc002wrl.3	+	10	1106	c.909C>T	c.(907-909)ttC>ttT	p.F303F		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	303						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TAGCAAATTTCCACCGCAAAG	0.468000														57			27		0	0	0.00178596	0	0
RFPL2	10739	broad.mit.edu	37	22	32589013	32589013	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:32589013C>T	uc003amg.3	-	3	1368	c.432G>A	c.(430-432)atG>atA	p.M144I	RFPL2_uc003ame.3_Missense_Mutation_p.M83I|RFPL2_uc003amf.3_Missense_Mutation_p.M54I|RFPL2_uc003amh.3_Missense_Mutation_p.M54I	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	144							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TCCGAGAGACCATGGAAGAGC	0.527000														50			16		0	0	0.000958276	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549234	58549234	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:58549234C>T	uc002qrc.1	+	2	277	c.30C>T	c.(28-30)tcC>tcT	p.S10S	ZSCAN1_uc002qra.1_Silent_p.S10S|ZSCAN1_uc002qrb.1_Silent_p.S10S	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	10					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCCTGCCTCCCCCAGACGCC	0.677000														1			5		0	0	0.000602214	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421499	62421499	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:62421499C>T	uc002ygv.2	-	1	813	c.612G>A	c.(610-612)aaG>aaA	p.K204K	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GGCCATCGGCCTTGGGCTCCT	0.602000														25			8		0	0	0.000274275	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502954	140502954	+	Silent	SNP	C	T	T	rs148427211		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140502954C>T	uc003lip.1	+	0	1374	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	458	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.F458F(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.627000														53			22		0	0	0.000409698	0	0
SPEG	10290	broad.mit.edu	37	2	220348848	220348848	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:220348848A>C	uc010fwg.3	+	29	6663	c.6663A>C	c.(6661-6663)gaA>gaC	p.E2221D		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2221	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCAGGCCAGAACCAGTCCGAG	0.642000														19			12		0	0	0.000151284	0	0
SLC7A8	23428	broad.mit.edu	37	14	23635597	23635597	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:23635597T>C	uc001wiz.3	-	1	1030	c.304A>G	c.(304-306)Aaa>Gaa	p.K102E	SLC7A8_uc010akj.3_Missense_Mutation_p.K102E	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	102					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CCTCCAGATTTGGGGATGGTG	0.542000														85			41		0	0	0.000589545	0	0
ELK1	2002	broad.mit.edu	37	X	47500833	47500833	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:47500833G>A	uc004dik.4	-	2	330	c.8C>T	c.(7-9)cCa>cTa	p.P3L	ELK1_uc010nhv.3_Missense_Mutation_p.P3L|ELK1_uc010nhw.3_5'UTR|ELK1_uc004dil.4_Non-coding_Transcript	NM_001114123	NP_005220	P19419	ELK1_HUMAN	Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.	3					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CGTCACAGATGGGTCCATCGC	0.587000														8			3		0	0	6.4e-05	0	0
NAV3	89795	broad.mit.edu	37	12	78562585	78562585	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:78562585G>T	uc001syp.3	+	23	5093	c.4920G>T	c.(4918-4920)caG>caT	p.Q1640H	NAV3_uc001syo.3_Missense_Mutation_p.Q1640H|NAV3_uc010sub.2_Missense_Mutation_p.Q1126H|NAV3_uc009zsf.3_Missense_Mutation_p.Q471H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1640						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGAAGGCTCAGAATTCTGCTG	0.393000										HNSCC(70;0.22)				78			39		2.13384e-23	1.20461e-22	0.000781405	1	0
S100A7L2	645922	broad.mit.edu	37	1	153409599	153409599	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:153409599C>T	uc010pdx.2	-	2	352	c.274G>A	c.(274-276)Gat>Aat	p.D92N		NM_001045479	NP_001038944			Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.									p.G92*(1)		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)			ATGGTTATATCCCCCAGCAAG	0.473000														72			57		0	0	0.000781405	0	0
BAI3	577	broad.mit.edu	37	6	70070771	70070771	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:70070771G>A	uc010kak.3	+	27	3882	c.3606G>A	c.(3604-3606)aaG>aaA	p.K1202K	BAI3_uc003pev.4_Silent_p.K1202K|BAI3_uc011dxx.2_Silent_p.K408K	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1202					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)				TTCTTCATAAGGATATTGGTC	0.353000														42			17		0	0	0.000958276	0	0
BRF1	2972	broad.mit.edu	37	14	105718852	105718853	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:105718852_105718853GG>AA	uc001yqp.2	-	4	898_899	c.535_536CC>TT	c.(535-537)ccg>TTg	p.P179L	BRF1_uc010tyo.1_Missense_Mutation_p.P64L|BRF1_uc010typ.1_Missense_Mutation_p.P64L|BRF1_uc010axg.1_Missense_Mutation_p.P152L	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	179					positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ACCTATGGCCGGCGCATTGATG	0.530000														18			13		0	0	6.4e-05	0	0
CAPN12	147968	broad.mit.edu	37	19	39232476	39232476	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:39232476G>A	uc002ojd.1	-	3	810	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	167	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCGAGCGCACGAACATCAGCT	0.632000														19			10		0	0	0.000673444	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921097	12921097	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:12921097G>A	uc001aum.1	+	3	975	c.888G>A	c.(886-888)gaG>gaA	p.E296E		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	296										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCTTGGAGAACTTGGAAT	0.463000														74			54		0	0	0.000781405	0	0
GCM1	8521	broad.mit.edu	37	6	52993715	52993716	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:52993715_52993716CC>TT	uc003pbp.3	-	5	808_809	c.599_600GG>AA	c.(598-600)ggg>gAA	p.G200E		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	200						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.Q199K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					AAGGTAAACTCCCCTGACTTTG	0.431000														62			26		0	0	6.4e-05	0	0
LRFN2	57497	broad.mit.edu	37	6	40400449	40400449	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:40400449T>A	uc003oph.1	-	1	869	c.404A>T	c.(403-405)cAg>cTg	p.Q135L		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	135						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCGCCCAGCTGGTTGTTGTT	0.597000														20			16		0	0	0.000422831	0	0
XPO6	23214	broad.mit.edu	37	16	28146632	28146632	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:28146632G>A	uc002dpa.1	-	9	1849	c.1348C>T	c.(1348-1350)Ctg>Ttg	p.L450L	XPO6_uc002dpb.1_Silent_p.L436L|XPO6_uc010vcp.1_Silent_p.L450L	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	450					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						AGGAGCACCAGGGCATCTTCG	0.463000														70			35		0	0	0.00111076	0	0
SMYD1	150572	broad.mit.edu	37	2	88393054	88393054	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:88393054C>T	uc002ssr.3	+	4	763	c.678C>T	c.(676-678)tcC>tcT	p.S226S	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Intron	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	226	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAGTGAAATCCATGTTTCATA	0.493000														60			20		0	0	0.000229342	0	0
TTN	7273	broad.mit.edu	37	2	179396101	179396101	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:179396101C>T	uc021vsy.1	-	306	97762	c.97537G>A	c.(97537-97539)Gaa>Aaa	p.E32513K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E26208K|TTN_uc021vta.1_Missense_Mutation_p.E26141K|TTN_uc021vtb.1_Missense_Mutation_p.E26016K|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33440	Ig-like 143.						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)			GATTTCACTTCCCTGACAGAA	0.438000														61			43		0	0	0.000781405	0	0
FMN2	56776	broad.mit.edu	37	1	240351539	240351539	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:240351539A>T	uc010pye.2	+	4	2200	c.1975A>T	c.(1975-1977)Aaa>Taa	p.K659*	FMN2_uc010pyd.2_Nonsense_Mutation_p.K655*	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	655					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AACTCCCCAAAAACGCTCAGA	0.373000														71			17		0	0	0.000958276	0	0
MUC16	94025	broad.mit.edu	37	19	9048845	9048845	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9048845C>T	uc002mkp.3	-	4	32990	c.32786G>A	c.(32785-32787)gGg>gAg	p.G10929E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10931	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						TCCTGGTACCCCAGGTGAAAC	0.493000														46			27		0	0	0.000720815	0	0
FAT2	2196	broad.mit.edu	37	5	150885259	150885259	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:150885259C>T	uc003lue.4	-	22	12930	c.12917G>A	c.(12916-12918)gGg>gAg	p.G4306E	FAT2_uc003lud.4_Missense_Mutation_p.G913E	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	4306					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATAAGAGGGCCCAGCTCGGCT	0.672000														23			9		0	0	0.000442599	0	0
NETO2	81831	broad.mit.edu	37	16	47162260	47162260	+	Nonsense_Mutation	SNP	G	A	A	rs144229750	by1000genomes	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:47162260G>A	uc002eer.2	-	3	870	c.457C>T	c.(457-459)Cga>Tga	p.R153*	NETO2_uc010vgf.2_Nonsense_Mutation_p.R153*	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	153	CUB 1.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TATTTTGCTCGAAATCCCAGT	0.363000										HNSCC(25;0.065)				48			32		0	0	0.000339439	0	0
CSMD3	114788	broad.mit.edu	37	8	113348946	113348946	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:113348946C>T	uc003ynu.3	-	43	7113	c.6954G>A	c.(6952-6954)ggG>ggA	p.G2318G	CSMD3_uc003yns.3_Silent_p.G1520G|CSMD3_uc003ynt.3_Silent_p.G2278G|CSMD3_uc011lhx.2_Silent_p.G2214G|CSMD3_uc003ynw.1_Silent_p.G29G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2318	CUB 13.					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						AGATGCCATTCCCAGGGGGTA	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				69			52		0	0	0.000781405	0	0
AGTR1	185	broad.mit.edu	37	3	148459572	148459572	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:148459572C>T	uc003ewg.3	+	3	1196	c.750C>T	c.(748-750)ttC>ttT	p.F250F	AGTR1_uc003ewh.3_Silent_p.F250F|AGTR1_uc003ewi.3_Silent_p.F250F|AGTR1_uc003ewj.3_Silent_p.F250F|AGTR1_uc003ewk.3_Silent_p.F250F|AGTR1_uc021xfj.1_Silent_p.F250F	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	250					Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TTTTCTTTTTCTTTTCCTGGA	0.353000														37			32		0	0	0.000409698	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323953	79323953	+	Nonsense_Mutation	SNP	G	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:79323953G>C	uc010mpk.3	-	7	3361	c.3237C>G	c.(3235-3237)taC>taG	p.Y1079*	PRUNE2_uc022bih.1_Nonsense_Mutation_p.Y901*	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1079					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGGGGTCGTCGTAACTGGACT	0.517000														29			37		0	0	0.000509022	0	0
ABI3BP	25890	broad.mit.edu	37	3	100645200	100645200	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:100645200G>A	uc003dun.3	-	1	311	c.226C>T	c.(226-228)Cca>Tca	p.P76S	ABI3BP_uc003duo.2_Missense_Mutation_p.P69S|ABI3BP_uc003dup.4_Missense_Mutation_p.P69S	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	76						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TACTGGTTTGGTGATACATTG	0.468000														45			18		0	0	0.000958276	0	0
IL3RA	3563	broad.mit.edu	37	X	1471298	1471298	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:1471298G>A	uc004cps.3	+	5	864	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Missense_Mutation_p.R94Q	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	172						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GACATCTCTCGACTCTCCAGC	0.532000														86			46		0	0	0.000781405	0	0
KAT6A	7994	broad.mit.edu	37	8	41845079	41845080	+	Splice_Site	DNP	CG	AT	AT	rs148925079		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:41845079_41845080CG>AT	uc010lxb.3	-	4	1145	c.601_splice	c.e4-1	p.P201_splice	KAT6A_uc010lxc.3_Splice_Site_p.P201_splice|KAT6A_uc003xon.4_Splice_Site_p.P201_splice|KAT6A_uc010lxd.3_Splice_Site_p.P201_splice	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	201					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.P201P(1)									GTTCAGCAACCGGCTGTGAAGA	0.376000														263			8		0	0	6.4e-05	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156638326	156638326	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:156638326G>A	uc003iov.3	+	8	2124	c.1588G>A	c.(1588-1590)Gat>Aat	p.D530N	GUCY1A3_uc010iqc.2_Missense_Mutation_p.D530N|GUCY1A3_uc010iqd.3_Missense_Mutation_p.D529N|GUCY1A3_uc003iow.3_Missense_Mutation_p.D530N|GUCY1A3_uc003iox.3_Missense_Mutation_p.D530N|GUCY1A3_uc010iqe.3_Missense_Mutation_p.D295N|GUCY1A3_uc003ioy.3_Missense_Mutation_p.D530N|GUCY1A3_uc003ioz.3_Missense_Mutation_p.D295N|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.D530N	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	530	Guanylate cyclase.			GDAYCVA -> AMPIVWL (in Ref. 1; CAA47145).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.G529G(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GACCATTGGCGATGCCTATTG	0.408000														14			23		0	0	0.00127121	0	0
DSPP	1834	broad.mit.edu	37	4	88534101	88534101	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:88534101G>A	uc003hqu.3	+	3	883	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	255					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGATGAGGATGAAGACGAGGG	0.502000														13			21		0	0	0.000586117	0	0
PPP3CA	5530	broad.mit.edu	37	4	102117259	102117259	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:102117259G>A	uc011cen.1	-	1	748	c.73C>T	c.(73-75)Cca>Tca	p.P25S	PPP3CA_uc003hvu.2_Missense_Mutation_p.P25S|PPP3CA_uc010ilj.2_Missense_Mutation_p.P25S|PPP3CA_uc003hvt.2_Missense_Mutation_p.P12S|PPP3CA_uc003hvs.2_Intron|PPP3CA_uc010ilk.2_Missense_Mutation_p.P25S	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, alpha isozyme (PPP3CA), transcript variant 1, mRNA.	25	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CGGTGACTTGGAGGAAATGGA	0.393000														11			12		0	0	0.00136819	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921508	78921508	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:78921508G>A	uc002bed.1	-	4	1251	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.S198F	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	380					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ATAGAAGTTGGAGGGGCTGGT	0.642000														23			21		0	0	0.000229342	0	0
SLC7A8	23428	broad.mit.edu	37	14	23600687	23600687	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:23600687G>A	uc001wiz.3	-	7	1822	c.1096C>T	c.(1096-1098)Cca>Tca	p.P366S	SLC7A8_uc001wiw.3_5'Flank|SLC7A8_uc001wix.3_Missense_Mutation_p.P163S|SLC7A8_uc010tnk.2_Missense_Mutation_p.P142S|SLC7A8_uc010tnl.2_Missense_Mutation_p.P261S|SLC7A8_uc001wiy.3_Non-coding_Transcript|SLC7A8_uc010akj.3_Intron	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	366					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AGCAGGGCTGGGATTGGGGTG	0.567000														40			15		0	0	0.00074312	0	0
MXRA5	25878	broad.mit.edu	37	X	3248289	3248289	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:3248289C>T	uc004crg.4	-	3	636	c.479G>A	c.(478-480)gGa>gAa	p.G160E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	160						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGGAGATTTCCTTCCAAATG	0.468000														24			13		0	0	0.000308642	0	0
LIMA1	51474	broad.mit.edu	37	12	50594577	50594578	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:50594577_50594578GG>TT	uc001rwj.4	-	6	1128_1129	c.954_955CC>AA	c.(952-957)acccat>acAAat	p.H319N	LIMA1_uc001rwg.4_Missense_Mutation_p.H17N|LIMA1_uc001rwh.4_Missense_Mutation_p.H159N|LIMA1_uc001rwi.4_Missense_Mutation_p.H159N|LIMA1_uc001rwk.4_Missense_Mutation_p.H319N|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	319					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	p.H319N(2)		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						CCTTCCTGATGGGTGATGCAGA	0.421000														376			8		0	0	6.4e-05	0	0
SEMA4B	10509	broad.mit.edu	37	15	90764258	90764258	+	Silent	SNP	C	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:90764258C>A	uc002boy.3	+	5	811	c.528C>A	c.(526-528)gtC>gtA	p.V176V	SEMA4B_uc002boz.3_Silent_p.V176V|SEMA4B_uc010uqd.2_Silent_p.V14V|SEMA4B_uc002bpa.3_Silent_p.V14V	NM_020210	NP_945119			Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA.											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AGGGGAATGTCCTCCTGGAAG	0.582000														2			5		4.096e-09	2.30508e-08	0.00116845	1	0
ZNF292	23036	broad.mit.edu	37	6	87964629	87964629	+	Silent	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:87964629T>C	uc003plm.4	+	7	1323	c.1282T>C	c.(1282-1284)Tta>Cta	p.L428L		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACCAAATTCTTTACGCTGTGA	0.383000														30			20		0	0	0.00152264	0	0
INF2	64423	broad.mit.edu	37	14	105179883	105179883	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:105179883G>A	uc001ypb.2	+	19	3123	c.2980G>A	c.(2980-2982)Ggg>Agg	p.G994R	INF2_uc001ypc.2_Missense_Mutation_p.G994R|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	994					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCGGGGCCGCGGGGACACCGA	0.667000														7			3		0	0	0.00024832	0	0
SH3BGRL	6451	broad.mit.edu	37	X	80532515	80532515	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:80532515C>T	uc010nmm.3	+	2	638	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SH3BGRL_uc004eef.3_Silent_p.F26F|SH3BGRL_uc011mqs.2_Non-coding_Transcript|SH3BGRL_uc010nml.3_Non-coding_Transcript|SH3BGRL_uc010nmn.3_Silent_p.F63F			O75368	SH3L1_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein like (SH3BGRL), mRNA.	26						cytoplasm|nucleus	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				TGCTTGGTTTCCTAGAAGCCA	0.378000														39			13		0	0	0.000422831	0	0
MME	4311	broad.mit.edu	37	3	154898211	154898211	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:154898211C>T	uc010hvr.1	+	22	2427	c.2216C>T	c.(2215-2217)tCa>tTa	p.S739L	MME_uc003fab.1_Missense_Mutation_p.S739L|MME_uc003fac.1_Missense_Mutation_p.S739L|MME_uc003fad.1_Missense_Mutation_p.S739L|MME_uc003fae.1_Missense_Mutation_p.S739L	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	739					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CGCAAGAATTCATACATGAAT	0.428000														111			53		0	0	0.000781405	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517259	140517259	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140517259A>T	uc003liq.3	+	0	2460	c.2243A>T	c.(2242-2244)tAc>tTc	p.Y748F		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	748					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)			TCCCAGAGCTACCACTACGAG	0.632000														95			53		0	0	0.000781405	0	0
PRICKLE3	4007	broad.mit.edu	37	X	49034474	49034474	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:49034474G>A	uc004dmy.1	-	6	849	c.823C>T	c.(823-825)Cac>Tac	p.H275Y	PRICKLE3_uc011mmv.1_Missense_Mutation_p.H207Y|PRICKLE3_uc011mmw.1_Missense_Mutation_p.H194Y|PRICKLE3_uc011mmx.1_Missense_Mutation_p.H237Y|PRICKLE3_uc011mmy.1_Missense_Mutation_p.H262Y	NM_006150	NP_006141	O43900	PRIC3_HUMAN	Homo sapiens prickle homolog 3 (Drosophila) (PRICKLE3), mRNA.	275	LIM zinc-binding 2.						protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CAGCAGAAGTGATCCATGTGC	0.632000														14			6		0	0	0.00116845	0	0
ADAM2	2515	broad.mit.edu	37	8	39604026	39604026	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:39604026C>T	uc003xnj.3	-	18	2214	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	ADAM2_uc003xnk.3_Silent_p.R694R|ADAM2_uc011lck.2_Silent_p.R650R|ADAM2_uc003xnl.3_Silent_p.R557R	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	713					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCCATTTTTTCCTTTGGAAAT	0.284000														76			51		0	0	0.000781405	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220340851	220340852	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:220340851_220340852GG>AA	uc010puk.1	-	24	3136_3137	c.2972_2973CC>TT	c.(2971-2973)gcc>gTT	p.A991V	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.A991V|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A571V	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	991					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CACCTGGTATGGCTCCTAAGTC	0.381000														115			48		0	0	6.4e-05	0	0
HECA	51696	broad.mit.edu	37	6	139498230	139498230	+	Silent	SNP	C	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:139498230C>A	uc003qin.3	+	3	1905	c.1620C>A	c.(1618-1620)ctC>ctA	p.L540L		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	540					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TCAAAGTTCTCGAAGCTTATT	0.368000														15			6		3.59834e-05	0.000201244	0.00116845	1	0
NPSR1	387129	broad.mit.edu	37	7	34851447	34851447	+	Silent	SNP	C	T	T	rs116733850	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:34851447C>T	uc003teh.1	+	3	578	c.450C>T	c.(448-450)atC>atT	p.I150I	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.I150I|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.I150I|NPSR1_uc010kww.1_Silent_p.I139I|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	150						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.A149V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ACCATGCCATCGTCTACCCCA	0.468000														75			82		0	0	0.000781405	0	0
FOXJ1	2302	broad.mit.edu	37	17	74136356	74136356	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:74136356C>T	uc002jqx.3	-	1	476	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	41					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			ATGGAGAATTCCTGCAGCCAC	0.751000														14			8		0	0	0.000442599	0	0
TCTE1	202500	broad.mit.edu	37	6	44253959	44253959	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:44253959G>A	uc003oxi.2	-	2	744	c.588C>T	c.(586-588)ttC>ttT	p.F196F	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	196										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCGGCGGAAGGAACTGATCGA	0.647000														30			18		0	0	0.00121646	0	0
RABGEF1	27342	broad.mit.edu	37	7	66273942	66273942	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:66273942C>A	uc003tvf.3	+	12	1982	c.766C>A	c.(766-768)Cgc>Agc	p.R256S	RABGEF1_uc003tvg.3_Missense_Mutation_p.R191S|RABGEF1_uc003tvh.3_Missense_Mutation_p.R383S|RABGEF1_uc010lag.3_Missense_Mutation_p.R383S|RABGEF1_uc011kee.2_Missense_Mutation_p.R397S|RABGEF1_uc003tvi.3_Missense_Mutation_p.R217S	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.	600					endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	p.R383C(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						GGATTTTGATCGCTACATGTC	0.458000														52			28		1.75199e-13	9.87495e-13	0.00127121	1	0
TACC3	10460	broad.mit.edu	37	4	1729447	1729447	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:1729447C>T	uc003gdo.3	+	3	473	c.318C>T	c.(316-318)atC>atT	p.I106I	TACC3_uc010ibz.3_Silent_p.I106I|TACC3_uc003gdp.3_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	106						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AACAGCTCATCAAGGAAGTGG	0.488000														320			128		0	0	0.000781405	0	0
LAMA3	3909	broad.mit.edu	37	18	21501454	21501454	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:21501454G>A	uc002kuq.3	+	61	8168	c.8082G>A	c.(8080-8082)tgG>tgA	p.W2694*	LAMA3_uc002kur.3_Nonsense_Mutation_p.W2638*|LAMA3_uc002kus.4_Nonsense_Mutation_p.W1085*|LAMA3_uc002kut.4_Nonsense_Mutation_p.W1029*	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2694	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCGTATGTGGATAAATGTGG	0.368000														52			25		0	0	0.000720815	0	0
SALL1	6299	broad.mit.edu	37	16	51175771	51175771	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:51175771C>T	uc021tif.1	-	1	393	c.71G>A	c.(70-72)aGg>aAg	p.R24K	SALL1_uc021tid.1_Missense_Mutation_p.R24K|SALL1_uc021tie.1_Missense_Mutation_p.R121K|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	121					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGACTCTTCCCTGTCAAGTCC	0.552000														68			23		0	0	0.000878237	0	0
MED12L	116931	broad.mit.edu	37	3	150911442	150911442	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:150911442C>T	uc003eyp.3	+	13	2263	c.2134C>T	c.(2134-2136)Cct>Tct	p.P712S	MED12L_uc011bnz.2_Missense_Mutation_p.P572S|MED12L_uc003eyn.3_Missense_Mutation_p.P747S|MED12L_uc003eyo.3_Missense_Mutation_p.P712S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	712					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACACATTTTCCTATACCTCT	0.338000														49			37		0	0	0.000374591	0	0
DISP2	85455	broad.mit.edu	37	15	40657471	40657471	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:40657471C>T	uc001zlk.1	+	5	932	c.843C>T	c.(841-843)ccC>ccT	p.P281P		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	281					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCTGTGGCCCCCCTGGTAAGC	0.607000														22			8		0	0	0.000157383	0	0
TNXB	7148	broad.mit.edu	37	6	32038104	32038104	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:32038104G>A	uc003nzl.2	-	13	5280	c.5078C>T	c.(5077-5079)tCc>tTc	p.S1693F		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1775	Fibronectin type-III 9.				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						AACCGTCCAGGAGAGGCGCAG	0.657000														113			58		0	0	0.000781405	0	0
HAO1	54363	broad.mit.edu	37	20	7866479	7866479	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:7866479C>T	uc002wmw.1	-	5	870	c.846G>A	c.(844-846)gtG>gtA	p.V282V	HAO1_uc010gbu.3_Silent_p.V282V	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	282	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCTTCCCTTCCACAGCCTCCA	0.483000														64			41		0	0	0.000589545	0	0
ANK3	288	broad.mit.edu	37	10	61832232	61832232	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:61832232C>T	uc001jky.3	-	36	8745	c.8407G>A	c.(8407-8409)Gat>Aat	p.D2803N	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2803					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGCCAGAATCATTTACAACA	0.388000														21			25		0	0	0.000586117	0	0
OPN5	221391	broad.mit.edu	37	6	47754326	47754326	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:47754326A>C	uc003ozc.3	+	1	234	c.206A>C	c.(205-207)gAa>gCa	p.E69A	OPN5_uc003ozd.3_5'Flank	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	69					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AGACCCGCTGAAATAATGACT	0.383000														47			17		0	0	0.000566183	0	0
SYT16	83851	broad.mit.edu	37	14	62462942	62462942	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:62462942G>A	uc001xfu.1	+	0	402	c.205G>A	c.(205-207)Gat>Aat	p.D69N	SYT16_uc010tsd.1_Missense_Mutation_p.D69N	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	69								p.D69H(3)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTACTTTGAAGATGAAGAACA	0.368000														108			62		0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9086190	9086190	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9086190C>T	uc002mkp.3	-	0	5829	c.5625G>A	c.(5623-5625)ttG>ttA	p.L1875L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1875	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						AGCCGTTTTCCAATCTGGAGG	0.493000														19			9		0	0	0.000274275	0	0
OR52B2	255725	broad.mit.edu	37	11	6191292	6191292	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:6191292G>A	uc010qzy.2	-	0	265	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGCTTGAAGCCAAAAGATG	0.493000														41			49		0	0	0.000781405	0	0
DDI1	414301	broad.mit.edu	37	11	103908174	103908174	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:103908174G>A	uc001phr.2	+	0	867	c.624G>A	c.(622-624)cgG>cgA	p.R208R	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	208					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CACTGGATCGGGAAGCTCAGG	0.498000														24			42		0	0	0.00148497	0	0
ZNF676	163223	broad.mit.edu	37	19	22364141	22364141	+	Silent	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:22364141T>C	uc002nqs.1	-	2	696	c.378A>G	c.(376-378)tcA>tcG	p.S126S		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TGTTTGAATTTGAACATTTAT	0.328000														74			54		0	0	0.000781405	0	0
SPEN	23013	broad.mit.edu	37	1	16256478	16256478	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:16256478C>T	uc001axk.1	+	10	3947	c.3743C>T	c.(3742-3744)tCa>tTa	p.S1248L	SPEN_uc010obp.1_Missense_Mutation_p.S1207L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1248					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TACAGAAGTTCACGCCAAATC	0.473000														42			35		0	0	0.000692331	0	0
MIR516B2	574485	broad.mit.edu	37	19	54228779	54228779	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:54228779G>A	uc021vak.1	+	1		c.85_splice	c.e1+1		MIR526A2_uc021val.1_5'Flank					Homo sapiens microRNA 516b-2 (MIR516B2), microRNA.																		TACTCTTTGAGAAAAGCAGCA	0.398000														15			9		0	0	0.000274275	0	0
RNF213	57674	broad.mit.edu	37	17	78268774	78268774	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:78268774G>T	uc002jyh.2	+	9	2017	c.1874G>T	c.(1873-1875)tGg>tTg	p.W625L	RNF213_uc002jyf.3_Missense_Mutation_p.W576L|RNF213_uc021uen.1_Missense_Mutation_p.W576L|RNF213_uc002jyg.1_Missense_Mutation_p.W307L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	576										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCACAGCTGTGGACCGATTTG	0.542000														45			15		3.52763e-06	1.97904e-05	0.000566183	1	0
ZDHHC9	51114	broad.mit.edu	37	X	128946754	128946754	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:128946754G>A	uc004euv.3	-	6	1179	c.717C>T	c.(715-717)gtC>gtT	p.V239V	ZDHHC9_uc004euw.3_Silent_p.V239V	NM_001008222	NP_057116	Q9Y397	ZDHC9_HUMAN	Homo sapiens zinc finger, DHHC-type containing 9 (ZDHHC9), transcript variant 2, mRNA.	239						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TCAGTCCCACGACGGACCAGA	0.458000														82			62		0	0	0.000781405	0	0
FLT1	2321	broad.mit.edu	37	13	29012394	29012394	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:29012394C>T	uc001usb.3	-	3	762	c.477G>A	c.(475-477)cgG>cgA	p.R159R	FLT1_uc010aar.1_Silent_p.R159R|FLT1_uc001usc.3_Silent_p.R159R|FLT1_uc010tdp.1_Silent_p.R159R	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	159	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.R159R(2)		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)	GTGACGTAACCCGGCAGGGAA	0.398000														28			18		0	0	0.000566183	0	0
CCDC144C	348254	broad.mit.edu	37	17	20224893	20224893	+	RNA	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:20224893C>T	uc010cqy.1	+	0		c.407C>T								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						ACAGAGCTGCCCGGTCGGGCG	0.622000														123			56		0	0	0.000781405	0	0
ACACB	32	broad.mit.edu	37	12	109698356	109698356	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:109698356C>T	uc001tob.3	+	47	6687	c.6568C>T	c.(6568-6570)Ctg>Ttg	p.L2190L	ACACB_uc001toc.3_Silent_p.L2190L|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.L856L	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2190	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ACAGCCCATCCTGATCTATAT	0.522000														101			53		0	0	0.000781405	0	0
ARRB2	409	broad.mit.edu	37	17	4621234	4621234	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:4621234C>T	uc010vsg.2	+	7	828	c.600C>T	c.(598-600)ccC>ccT	p.P200P	ARRB2_uc002fyj.3_Silent_p.P179P|ARRB2_uc002fyk.3_Silent_p.P164P|ARRB2_uc002fyl.3_Silent_p.P179P|ARRB2_uc002fym.3_Silent_p.P164P|ARRB2_uc002fyn.3_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	179					G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CGGAGAAACCCGGCCCCCAGC	0.637000														18			7		0	0	8.12818e-05	0	0
RNF40	9810	broad.mit.edu	37	16	30777523	30777523	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:30777523C>T	uc002dzq.3	+	8	1853	c.1033C>T	c.(1033-1035)Ctg>Ttg	p.L345L	RNF40_uc010caa.3_Silent_p.L345L|RNF40_uc010cab.3_Intron|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Intron|RNF40_uc002dzr.3_Silent_p.L345L|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	345					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AAACCAGGAACTGGCCAACAG	0.602000														59			26		0	0	0.000586117	0	0
SMG7	9887	broad.mit.edu	37	1	183515287	183515287	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:183515287C>T	uc001gqg.3	+	16	2807	c.2557C>T	c.(2557-2559)Ccc>Tcc	p.P853S	SMG7_uc010pob.2_Missense_Mutation_p.P836S|SMG7_uc021pga.1_Missense_Mutation_p.P765S|SMG7_uc001gqf.3_Missense_Mutation_p.P807S|SMG7_uc001gqh.3_Missense_Mutation_p.P807S|SMG7_uc010poc.2_Missense_Mutation_p.P811S	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	853					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GAAGCCTTTTCCCATGGAGCC	0.448000														38			29		0	0	0.00127121	0	0
LAMA2	3908	broad.mit.edu	37	6	129635813	129635813	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:129635813G>A	uc021zfb.1	+	23	3530	c.3425G>A	c.(3424-3426)gGc>gAc	p.G1142D	LAMA2_uc003qbn.3_Missense_Mutation_p.G1142D|LAMA2_uc003qbo.3_Missense_Mutation_p.G1142D	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1142	Laminin EGF-like 13.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATGTGGAAGGCATCCACTGT	0.512000														28			12		0	0	0.000151284	0	0
CACNA1E	777	broad.mit.edu	37	1	181727957	181727957	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:181727957G>A	uc009wxt.3	+	31	4753	c.4558G>A	c.(4558-4560)Gtg>Atg	p.V1520M	CACNA1E_uc001gow.3_Missense_Mutation_p.V1520M|CACNA1E_uc009wxs.3_Missense_Mutation_p.V1501M|CACNA1E_uc001gox.1_Missense_Mutation_p.V746M	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1520					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTTCACCATGGTGTTTTCCCT	0.473000														49			36		0	0	0.000680045	0	0
ZNF17	7565	broad.mit.edu	37	19	57931998	57931998	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:57931998C>T	uc002qop.1	+	3	1410	c.1144C>T	c.(1144-1146)Cat>Tat	p.H382Y	ZNF17_uc021vck.1_Missense_Mutation_p.H373Y|ZNF17_uc002qoo.1_Missense_Mutation_p.H380Y	NM_006959	NP_008890	P17021	ZNF17_HUMAN	Homo sapiens zinc finger protein 17 (ZNF17), mRNA.	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CCAGAGAGTTCATACTGGAGA	0.398000														56			39		0	0	0.000374591	0	0
PTPRF	5792	broad.mit.edu	37	1	44083415	44083416	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:44083415_44083416GG>AA	uc001cjr.3	+	24	4544_4545	c.4204_4205GG>AA	c.(4204-4206)ggg>AAg	p.G1402K	PTPRF_uc001cjs.3_Missense_Mutation_p.G1393K|PTPRF_uc001cju.3_Missense_Mutation_p.G791K|PTPRF_uc009vwt.3_Missense_Mutation_p.G962K|PTPRF_uc001cjv.3_Missense_Mutation_p.G873K|PTPRF_uc001cjw.3_Missense_Mutation_p.G628K	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1402	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGCGTCCCCGGGAGTGACTAC	0.594000														20			10		0	0	6.4e-05	0	0
AKAP9	10142	broad.mit.edu	37	7	91641942	91641942	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:91641942A>G	uc003ulg.3	+	8	3743	c.3518A>G	c.(3517-3519)aAa>aGa	p.K1173R	AKAP9_uc003ule.2_Missense_Mutation_p.K1185R|AKAP9_uc003ulf.3_Missense_Mutation_p.K1173R|AKAP9_uc003uli.3_Missense_Mutation_p.K798R	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1185					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGACTATGAAAACACAAGAA	0.338000			T	BRAF	papillary thyroid									35			48		0	0	0.000781405	0	0
YSK4	80122	broad.mit.edu	37	2	135779399	135779399	+	Splice_Site	SNP	T	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:135779399T>G	uc002tue.1	-	2	54	c.23_splice	c.e2-1	p.E8_splice	YSK4_uc010fne.1_Splice_Site|YSK4_uc002tuf.1_Splice_Site_p.E8_splice|YSK4_uc010fnc.1_Splice_Site_p.E8_splice|YSK4_uc010fnd.1_Splice_Site_p.E8_splice|YSK4_uc010zbg.1_Splice_Site_p.E8_splice|YSK4_uc002tui.4_Splice_Site_p.E25_splice	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	8							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAGCATGTCTTTCTATCAAAA	0.328000														49			22		0	0	0.000229342	0	0
ZNF544	27300	broad.mit.edu	37	19	58772667	58772667	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:58772667G>A	uc010euo.3	+	6	1169	c.695G>A	c.(694-696)gGa>gAa	p.G232E	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.G204E|ZNF544_uc010yhy.2_Missense_Mutation_p.G204E|ZNF544_uc002qrt.4_Missense_Mutation_p.G90E|ZNF544_uc002qru.4_Missense_Mutation_p.G90E|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGTAAACTTGGAAACGTTGAA	0.383000														50			36		0	0	0.000692331	0	0
AK8	158067	broad.mit.edu	37	9	135750555	135750555	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:135750555G>A	uc004cbu.1	-	1	672	c.116C>T	c.(115-117)cCc>cTc	p.P39L	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_Intron	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	39						cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						GGGATCTTCGGGCTGGTGGAT	0.577000														17			10		0	0	0.000978159	0	0
TPTE	7179	broad.mit.edu	37	21	10914379	10914379	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:10914379G>A	uc002yip.1	-	20	1708	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.S429L|TPTE_uc002yir.1_Missense_Mutation_p.S409L|TPTE_uc010gkv.1_Missense_Mutation_p.S309L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	447	C2 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)		TTTTCCTAATGAAATAGTGGA	0.328000														65			10		0	0	0.000151284	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047570	46047570	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:46047570C>T	uc002zfp.4	+	0	531	c.482C>T	c.(481-483)tCa>tTa	p.S161L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	161	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GATTCCTATTCATGCTGCCAA	0.602000														112			46		0	0	0.000781405	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045916	42045916	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:42045916G>A	uc001cgz.4	-	3	5766	c.4553C>T	c.(4552-4554)cCt>cTt	p.P1518L	HIVEP3_uc001cha.4_Missense_Mutation_p.P1518L|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1518					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGACAATGCAGGGTGAGGGAG	0.567000														37			24		0	0	0.000375601	0	0
TPR	7175	broad.mit.edu	37	1	186313130	186313130	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:186313130G>A	uc001grv.3	-	25	3807	c.3510C>T	c.(3508-3510)gtC>gtT	p.V1170V	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1170					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CAGAGGCAACGACCTTGTCAC	0.388000			T	NTRK1	papillary thyroid									40			19		0	0	0.00074312	0	0
PPAP2C	8612	broad.mit.edu	37	19	287583	287583	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:287583G>A	uc002loh.3	-	2	539	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	PPAP2C_uc002loi.3_Missense_Mutation_p.P125S|PPAP2C_uc002loj.3_Missense_Mutation_p.P69S	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	125					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAAGTTGGGCCTCAGACGC	0.602000														54			29		0	0	0.00178596	0	0
CERCAM	51148	broad.mit.edu	37	9	131198100	131198100	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:131198100C>T	uc004buz.4	+	11	2102	c.1704C>T	c.(1702-1704)tcC>tcT	p.S568S	CERCAM_uc004buy.1_Silent_p.S490S|CERCAM_uc010mxz.3_Silent_p.S490S	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.	568					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GGAGCGGCTCCCAAAAGACCC	0.677000														4			7		0	0	0.000157383	0	0
IQGAP1	8826	broad.mit.edu	37	15	90984750	90984750	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:90984750T>C	uc002bpl.1	+	7	763	c.662T>C	c.(661-663)gTt>gCt	p.V221A		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	221					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CATGCTGCTGTTATTGCTATT	0.348000														34			29		0	0	0.00178596	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140811671	140811671	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140811671C>T	uc003lkt.2	+	0	1514	c.1345C>T	c.(1345-1347)Ccg>Tcg	p.P449S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.P449S	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	451	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGACAACCCGCCGGTCTT	0.582000														39			8		0	0	0.000673444	0	0
HAVCR1	26762	broad.mit.edu	37	5	156469690	156469691	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:156469690_156469691CC>AA	uc010jij.1	-	5	969_970	c.784_785GG>TT	c.(784-786)ggg>TTg	p.G262L	HAVCR1_uc011ddl.1_Missense_Mutation_p.G93L|HAVCR1_uc003lwi.2_Missense_Mutation_p.G262L|HAVCR1_uc021ygj.1_Missense_Mutation_p.G262L|HAVCR1_uc021ygk.1_Missense_Mutation_p.G93L	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	257					interspecies interaction between organisms	integral to membrane	receptor activity	p.G262V(2)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGTCATTCCCATCTACTCAA	0.347000														462			10		0	0	6.4e-05	0	0
GABBR1	2550	broad.mit.edu	37	6	29581119	29581119	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:29581119G>A	uc003nmt.4	-	11	1803	c.1467C>T	c.(1465-1467)ggC>ggT	p.G489G	GABBR1_uc003nmp.4_Silent_p.G372G|GABBR1_uc003nms.4_Silent_p.G372G|GABBR1_uc003nmu.4_Silent_p.G427G|GABBR1_uc011dlr.2_Silent_p.G312G|GABBR1_uc011dls.1_Silent_p.G489G	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	489			G -> S (in dbSNP:rs1805057).		gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CACCAGAACGGCCGCCTCCTC	0.577000														60			37		0	0	0.000953801	0	0
DSCAM	1826	broad.mit.edu	37	21	42080671	42080671	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:42080671G>A	uc002yyq.1	-	1	522	c.70C>T	c.(70-72)Ctc>Ttc	p.L24F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	24					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)				ACAAAGTAGAGGCTGGAGTGT	0.517000														65			33		0	0	0.000692331	0	0
PCNP	57092	broad.mit.edu	37	3	101311501	101311501	+	Silent	SNP	C	T	T	rs17851951		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:101311501C>T	uc003dva.3	+	4	459	c.441C>T	c.(439-441)tcC>tcT	p.S147S	PCNP_uc003dvb.3_Non-coding_Transcript|PCNP_uc003dvc.3_Non-coding_Transcript|PCNP_uc003dvd.3_Missense_Mutation_p.L129F	NM_020357	NP_065090	Q8WW12	PCNP_HUMAN	Homo sapiens PEST proteolytic signal containing nuclear protein (PCNP), mRNA.	147					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding			large_intestine(1)|lung(1)	2						GACCAAACTCCTTCAATAAAG	0.333000														51			28		0	0	0.00058488	0	0
CYP1A2	1544	broad.mit.edu	37	15	75047291	75047291	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:75047291C>T	uc002ayr.1	+	6	1477	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	471					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TCTTCCTCTTCCTGGCCATCC	0.592000														37			23		0	0	0.000586117	0	0
PHYH	5264	broad.mit.edu	37	10	13323103	13323103	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:13323103G>A	uc001imf.3	-	7	924	c.836C>T	c.(835-837)tCc>tTc	p.S279F	PHYH_uc001ime.3_Missense_Mutation_p.S179F	NM_006214	NP_001032626	O14832	PAHX_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA.	279					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GAAATGGCAGGAAATTGCCTG	0.403000														11			21		0	0	0.00121646	0	0
ATN1	1822	broad.mit.edu	37	12	7043347	7043347	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:7043347G>T	uc001qrw.1	+	2	273	c.36G>T	c.(34-36)atG>atT	p.M12I	ATN1_uc001qrx.1_Missense_Mutation_p.M12I|ATN1_uc001qry.1_Missense_Mutation_p.M12I	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	12					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						AGATGTCAATGAGGAGTGGAC	0.537000														28			11		4.68919e-08	2.63685e-07	0.000673444	1	0
FGFR3	2261	broad.mit.edu	37	4	1801058	1801058	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:1801058C>T	uc003gdr.3	+	2	443	c.187C>T	c.(187-189)Ccg>Tcg	p.P63S	FGFR3_uc003gdu.2_Missense_Mutation_p.P63S|FGFR3_uc003gds.3_Missense_Mutation_p.P63S|FGFR3_uc003gdq.3_Missense_Mutation_p.P63S|FGFR3_uc010icb.1_5'Flank|FGFR3_uc003gdt.1_5'Flank	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	63	Ig-like C2-type 1.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GAGCTGTCCCCCGCCCGGGGG	0.697000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					34			56		0	0	0.000781405	0	0
ELN	2006	broad.mit.edu	37	7	73474215	73474215	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:73474215G>T	uc003tzw.3	+	22	1523	c.1432G>T	c.(1432-1434)Ggg>Tgg	p.G478W	ELN_uc003tzn.3_Splice_Site_p.G472_splice|ELN_uc003tzy.3_Splice_Site_p.G448_splice|ELN_uc003tzz.3_Splice_Site_p.G391_splice|ELN_uc003tzo.3_Splice_Site_p.G439_splice|ELN_uc003tzp.3_Splice_Site_p.G383_splice|ELN_uc003tzq.3_Splice_Site_p.G336_splice|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Splice_Site_p.G453_splice|ELN_uc003tzt.3_Splice_Site_p.G477_splice|ELN_uc003tzu.3_Splice_Site_p.G458_splice|ELN_uc003tzv.3_Splice_Site_p.G443_splice|ELN_uc011kfe.2_Splice_Site|ELN_uc003tzx.3_Splice_Site_p.G462_splice|ELN_uc011kff.2_Splice_Site_p.G472_splice	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	501	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	p.G478R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CAATCTTGCAGGGTTAGTTCC	0.567000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							319			9		0.000442599	0.00246386	0.000442599	1	0
PRSS1	5644	broad.mit.edu	37	7	142459672	142459672	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:142459672G>A	uc003wak.2	+	2	265	c.248G>A	c.(247-249)gGg>gAg	p.G83E	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.G23E	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	83	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GTCCTGGAGGGGAATGAGCAG	0.542000														166			50		0	0	0.000781405	0	0
BRSK2	9024	broad.mit.edu	37	11	1432786	1432786	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:1432786C>T	uc001ltm.3	+	0	405	c.152C>T	c.(151-153)cCc>cTc	p.P51L	BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001lti.3_Intron|BRSK2_uc001ltl.3_Intron|BRSK2_uc001ltj.3_Intron|BRSK2_uc001ltk.3_Intron	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	16	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGCCACACTCCCGGCCCACAG	0.692000														3			6		0	0	0.00116845	0	0
LOC440563	440563	broad.mit.edu	37	1	13183577	13183577	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:13183577C>T	uc010obg.2	-	1	539	c.296G>A	c.(295-297)cGa>cAa	p.R99Q		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	99						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CGCTGCGGATCGTTTCACACC	0.502000														40			11		0	0	0.00136819	0	0
OR6T1	219874	broad.mit.edu	37	11	123814360	123814360	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:123814360G>A	uc010sab.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;0.0401)		AATTCCGCAGGAAGAAGTACA	0.488000														21			42		0	0	0.000509022	0	0
KCNK1	3775	broad.mit.edu	37	1	233802528	233802528	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:233802528C>T	uc010pxo.1	+	1	711	c.543C>T	c.(541-543)atC>atT	p.I181I		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	181						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)	TGGTGGCCATCGTCCATGCCG	0.602000														58			22		0	0	0.000229342	0	0
MUC16	94025	broad.mit.edu	37	19	9056878	9056878	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9056878G>A	uc002mkp.3	-	2	30772	c.30568C>T	c.(30568-30570)Cct>Tct	p.P10190S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10192	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						GTGGACCCAGGAGAAGAAGGT	0.453000														36			32		0	0	0.000491102	0	0
ZNF99	7652	broad.mit.edu	37	19	22940851	22940851	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:22940851G>A	uc021urt.1	-	3	2015	c.1860C>T	c.(1858-1860)ccC>ccT	p.P620P		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACATTTGTAGGGTTTCTTTC	0.383000														17			8		0	0	0.000673444	0	0
CREB3L4	148327	broad.mit.edu	37	1	153946380	153946380	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:153946380G>A	uc001fdm.1	+	9	1295	c.1027G>A	c.(1027-1029)Gta>Ata	p.V343I	CREB3L4_uc001fdn.3_Missense_Mutation_p.V343I|CREB3L4_uc010pef.1_Missense_Mutation_p.V196I|CREB3L4_uc001fdo.3_Missense_Mutation_p.V323I|CREB3L4_uc001fdr.2_Missense_Mutation_p.V343I|CREB3L4_uc001fdq.2_Missense_Mutation_p.V323I	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 4 (CREB3L4), transcript variant 1, mRNA.	343					response to unfolded protein	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCACAAGGACGTAACAGAAAA	0.532000														13			11		0	0	0.00136819	0	0
YSK4	80122	broad.mit.edu	37	2	135744273	135744273	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:135744273C>T	uc002tue.1	-	6	2200	c.2169G>A	c.(2167-2169)atG>atA	p.M723I	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.M610I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.M451I|YSK4_uc002tui.4_Missense_Mutation_p.M740I	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	723							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTGGGCATTTCATATGTGTTT	0.388000														79			54		0	0	0.000781405	0	0
IGHE	3497	broad.mit.edu	37	14	106329413	106329413	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:106329413G>A	uc001yrw.1	-	0	50	c.38C>T	c.(37-39)tCc>tTc	p.S13F	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron|IGHG1_uc001yse.3_Intron|IGHE_uc001ysj.3_Missense_Mutation_p.S13F|IGHE_uc001ysk.1_Missense_Mutation_p.S13F|IGHE_uc001ysl.1_Missense_Mutation_p.S13F|IGHE_uc001ysm.2_Intron|IGHE_uc001ysn.1_Intron|abParts_uc021set.1_5'Flank					RecName: Full=Ig epsilon chain C region;																		CTTACCTGAGGAGACGGTGAC	0.542000														19			8		0	0	0.00136819	0	0
TTN	7273	broad.mit.edu	37	2	179634502	179634502	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:179634502G>A	uc021vsy.1	-	36	9031	c.8806C>T	c.(8806-8808)Cat>Tat	p.H2936Y	TTN_uc021vsz.1_Missense_Mutation_p.H2890Y|TTN_uc021vta.1_Missense_Mutation_p.H2890Y|TTN_uc021vtb.1_Missense_Mutation_p.H2890Y|TTN_uc002unb.2_Missense_Mutation_p.H2936Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2936	Ig-like 16.						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)			ATCAGCTGATGGAGTTTTCCC	0.478000														141			70		0	0	0.000781405	0	0
KCNU1	157855	broad.mit.edu	37	8	36793288	36793288	+	Silent	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:36793288T>A	uc010lvw.3	+	26	3387	c.3300T>A	c.(3298-3300)tcT>tcA	p.S1100S		NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	1100						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTCCCTCTCTTTTCCTAAGC	0.373000														119			58		0	0	0.000781405	0	0
SEMA4F	10505	broad.mit.edu	37	2	74902382	74902382	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:74902382G>A	uc002sna.1	+	9	1354	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N	SEMA4F_uc010ffq.1_Missense_Mutation_p.D382N|SEMA4F_uc010ffr.1_Missense_Mutation_p.D27N|SEMA4F_uc002snb.1_Missense_Mutation_p.D27N|SEMA4F_uc002snc.1_Missense_Mutation_p.D260N	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	415	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CCCACTCATGGACAGGCCAGT	0.582000											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			17		0	0	0.000958276	0	0
TLR9	54106	broad.mit.edu	37	3	52255454	52255454	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:52255454C>T	uc003ddb.3	-	4	3379	c.3169G>A	c.(3169-3171)Gag>Aag	p.E1057K	TLR9_uc003dda.2_Missense_Mutation_p.E960K	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	960					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TTGCGGTCCTCCAGCAGGCGC	0.692000														20			13		0	0	0.00136819	0	0
AKAP11	11215	broad.mit.edu	37	13	42875532	42875532	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:42875532G>T	uc001uys.2	+	7	2825	c.2650G>T	c.(2650-2652)Gta>Tta	p.V884L		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	884					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GCATACGATAGTAAATGAAAC	0.338000														28			5		1.23904e-05	6.93497e-05	0.000602214	1	0
SLIT2	9353	broad.mit.edu	37	4	20611774	20611774	+	Silent	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:20611774T>A	uc003gpr.1	+	33	4035	c.3831T>A	c.(3829-3831)tcT>tcA	p.S1277S	SLIT2_uc003gps.1_Silent_p.S1269S	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1277	Laminin G-like.		S -> F.		Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATTTTGACTCTCCACTCTATG	0.428000														22			28		0	0	0.000878237	0	0
RINL	126432	broad.mit.edu	37	19	39362287	39362287	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:39362287C>T	uc010xuo.2	-	6	538	c.451_splice	c.e6+1	p.D151_splice	RINL_uc002ojq.3_Splice_Site_p.D37_splice|RINL_uc002ojr.1_5'Flank	NM_001195833	NP_001182762	Q6ZS11	RINL_HUMAN	Homo sapiens Ras and Rab interactor-like (RINL), transcript variant 1, mRNA.	37							GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						CGTGCCTCACCTGTGTGTTCA	0.562000														57			15		0	0	0.000422831	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820931	35820931	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:35820931G>A	uc010ngt.1	+	1	897	c.618G>A	c.(616-618)ctG>ctA	p.L206L	MAGEB16_uc022bus.1_Silent_p.L206L	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	206	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGGCCTCCTGATAATTGTCC	0.522000														35			18		0	0	0.000375601	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15352093	15352093	+	RNA	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:15352093C>T	uc002yji.2	-	0		c.673G>A			ANKRD20A11P_uc002yjj.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA.																		TCCGCGGCGTCGCCCTTGACA	0.667000														15			14		0	0	0.000422831	0	0
PCLO	27445	broad.mit.edu	37	7	82585451	82585451	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:82585451C>T	uc003uhx.2	-	4	5107	c.4818G>A	c.(4816-4818)ggG>ggA	p.G1606G	PCLO_uc003uhv.2_Silent_p.G1606G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1537					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						GTCTGTGTTTCCCTGCTGTTA	0.418000														259			87		0	0	0.000781405	0	0
CPLX4	339302	broad.mit.edu	37	18	56985680	56985680	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:56985680C>T	uc002lhy.3	-	0	202	c.15G>A	c.(13-15)atG>atA	p.M5I		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	Homo sapiens complexin 4 (CPLX4), mRNA.	5					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				TCATACTTTTCATAAGGAAAG	0.368000														28			15		0	0	0.000219431	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678626	37678626	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:37678626G>A	uc001uwm.1	-	0	1176	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	256	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.F256F(4)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AGTACATGGCGAATTCTGCAG	0.433000														48			43		0	0	0.000437636	0	0
P2RY14	9934	broad.mit.edu	37	3	150931715	150931715	+	Silent	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:150931715A>T	uc003eyr.1	-	2	868	c.390T>A	c.(388-390)tcT>tcA	p.S130S	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Silent_p.S130S|P2RY14_uc021xfz.1_Silent_p.S130S	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	130						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTGGATGAAAGAAGTCCAAA	0.423000														41			7		0	0	0.000157383	0	0
PIK3CB	5291	broad.mit.edu	37	3	138474793	138474794	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:138474793_138474794GG>TT	uc011bmq.2	-	1	199_200	c.199_200CC>AA	c.(199-201)cca>AAa	p.P67K		NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	67	PI3K-ABD.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GTTGAACATTGGGTAATTGTGA	0.371000														423			11		0	0	6.4e-05	0	0
SH2D4B	387694	broad.mit.edu	37	10	82331323	82331323	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:82331323G>A	uc001kck.1	+	2	914	c.484G>A	c.(484-486)Gag>Aag	p.E162K	SH2D4B_uc001kcl.1_Missense_Mutation_p.E113K	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	161	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			ACGCATCCACGAGGAATTCAA	0.592000														10			10		0	0	0.000151284	0	0
ANKH	56172	broad.mit.edu	37	5	14769104	14769104	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:14769104G>A	uc003jfm.4	-	1	624	c.293C>T	c.(292-294)gCc>gTc	p.A98V		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	98					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTGAAAGACGGCAGCGATGGC	0.483000														40			29		0	0	0.000409698	0	0
OR10H3	26532	broad.mit.edu	37	19	15852274	15852274	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:15852274C>T	uc010xoq.2	+	0	72	c.72C>T	c.(70-72)ctC>ctT	p.L24L		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCCAGCAGCTCCTGCCTGTCT	0.483000														114			51		0	0	0.000781405	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140803134	140803134	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140803134C>T	uc003lkq.2	+	0	2598	c.2340C>T	c.(2338-2340)ctC>ctT	p.L780L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Silent_p.L780L|PCDHGC5_uc003lkp.2_Intron|PCDHGB8P_uc011daz.2_5'Flank	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	787					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACACGCTCATCAGCCAGG	0.502000														31			15		0	0	0.000308642	0	0
PRKCB	5579	broad.mit.edu	37	16	24185843	24185843	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:24185843T>C	uc002dmd.3	+	11	1533	c.1336T>C	c.(1336-1338)Tac>Cac	p.Y446H	PRKCB_uc002dme.3_Missense_Mutation_p.Y446H	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	446	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTTCAGATTTTACGCTGCAGA	0.388000														25			13		0	0	0.000219431	0	0
CDH24	64403	broad.mit.edu	37	14	23518845	23518846	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:23518845_23518846CC>TT	uc001wil.3	-	10	1961_1962	c.1701_1702GG>AA	c.(1699-1704)caggac>caAAac	p.D568N	CDH24_uc010akf.3_Missense_Mutation_p.D530N	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	568	Cadherin 5.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCTCGGTTGTCCTGGACAGTAA	0.594000														19			14		0	0	6.4e-05	0	0
CPEB2	132864	broad.mit.edu	37	4	15005680	15005680	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:15005680C>T	uc003gnk.2	+	0	1383	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	BC113726_uc003gng.4_5'Flank|BC113726_uc003gnh.1_5'Flank|CPEB2_uc003gnl.2_Silent_p.F461F|CPEB2_uc003gnm.2_Silent_p.F461F|CPEB2_uc003gni.2_Silent_p.F461F|CPEB2_uc003gnn.2_Silent_p.F461F|CPEB2_uc003gnj.2_Silent_p.F461F	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.	24	RRM 2.				regulation of translation	cytoplasm	RNA binding|nucleotide binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						ACCCGGCCTTCTTCCCTAGCT	0.741000														22			11		0	0	0.00136819	0	0
CNOT1	23019	broad.mit.edu	37	16	58557398	58557398	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:58557398G>A	uc002env.3	-	46	7086	c.6793C>T	c.(6793-6795)Ctc>Ttc	p.L2265F	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.L2260F|CNOT1_uc002ent.3_Missense_Mutation_p.L203F|CNOT1_uc010vik.2_Missense_Mutation_p.L1222F	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2265					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTCAAAAAGAGATAGCGACCT	0.443000														43			30		0	0	0.000339439	0	0
CELSR3	1951	broad.mit.edu	37	3	48691417	48691417	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:48691417G>A	uc003cuf.1	-	9	5382	c.5382C>T	c.(5380-5382)caC>caT	p.H1794H	CELSR3_uc010hkg.3_5'Flank|CELSR3_uc003cul.3_Silent_p.H1724H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1724	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGTCACAAAAGTGTAGCTTGG	0.597000														22			14		0	0	0.000151284	0	0
ZNF317	57693	broad.mit.edu	37	19	9270855	9270855	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9270855C>T	uc002mku.3	+	6	839	c.534C>T	c.(532-534)gaC>gaT	p.D178D	ZNF317_uc002mkv.3_Silent_p.D37D|ZNF317_uc002mkw.3_Silent_p.D146D|ZNF317_uc002mkx.3_Silent_p.D93D|ZNF317_uc002mky.3_Silent_p.D61D	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TTGGCATGGACCCTCATCTCA	0.552000														22			13		0	0	0.000151284	0	0
LONRF1	91694	broad.mit.edu	37	8	12594427	12594427	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:12594427T>A	uc003wwd.1	-	4	1399	c.1336A>T	c.(1336-1338)Aag>Tag	p.K446*	LONRF1_uc011kxv.1_Nonsense_Mutation_p.K46*|LONRF1_uc010lsp.1_Nonsense_Mutation_p.K46*	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 1 (LONRF1), mRNA.	446					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TTTTTCAGCTTATTTCTTCCA	0.308000														7			8		0	0	0.000157383	0	0
GCOM1	145781	broad.mit.edu	37	15	57910263	57910263	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:57910263G>A	uc002aei.3	+	2	326	c.195G>A	c.(193-195)agG>agA	p.R65R	GCOM1_uc002aej.3_Silent_p.R65R|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Silent_p.R65R|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Silent_p.R65R	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	65					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AACCTACCAGGAAACTTCCTC	0.423000														34			18		0	0	0.000295444	0	0
IDS	3423	broad.mit.edu	37	X	148584859	148584859	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:148584859C>T	uc011mxe.2	-	2	618	c.401G>A	c.(400-402)gGa>gAa	p.G134E	IDS_uc011mxf.2_Missense_Mutation_p.G44E|IDS_uc011mxg.2_5'UTR|IDS_uc010nsu.2_Intron|IDS_uc004fcw.4_Intron|IDS_uc011mxh.2_Missense_Mutation_p.G134E|IDS_uc011mxi.2_Non-coding_Transcript|IDS_uc011mxj.2_Missense_Mutation_p.G134E	NM_000202	NP_000193	P22304	IDS_HUMAN	Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.	134			G -> R (in MPS2; severe form).			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)					AAAGACTTTTCCCACCGACAT	0.537000														21			9		0	0	0.000978159	0	0
PLXDC2	84898	broad.mit.edu	37	10	20436730	20436730	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:20436730C>T	uc001iqg.1	+	5	1319	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	PLXDC2_uc001iqh.1_Nonsense_Mutation_p.Q179*|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	228						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ACTTGTGGTCCAGTGGGACCA	0.408000														11			25		0	0	0.000586117	0	0
UTP14C	9724	broad.mit.edu	37	13	52604978	52604978	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:52604978C>T	uc001vgb.3	+	1	2600	c.2038C>T	c.(2038-2040)Cag>Tag	p.Q680*	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Nonsense_Mutation_p.Q680*	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	680					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGCAGCTCATCAGGTACAAGT	0.473000														103			68		0	0	0.000781405	0	0
ZNF555	148254	broad.mit.edu	37	19	2853171	2853171	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:2853171T>G	uc002lwo.3	+	3	1246	c.1108T>G	c.(1108-1110)Tgc>Ggc	p.C370G	ZNF555_uc002lwn.4_Missense_Mutation_p.C369G	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E369*(1)		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)		ACCCTACGAATGCAAACAGTG	0.448000														9			6		0	0	0.00116845	0	0
TIE1	7075	broad.mit.edu	37	1	43773242	43773242	+	Splice_Site	SNP	A	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:43773242A>C	uc001ciu.3	+	6	1090	c.913_splice	c.e6+1	p.A305_splice	TIE1_uc010okd.2_Splice_Site_p.A305_splice|TIE1_uc010oke.2_Splice_Site_p.A260_splice|TIE1_uc009vwq.3_Splice_Site_p.A261_splice|TIE1_uc010okf.1_Splice_Site|TIE1_uc010okg.2_Splice_Site|TIE1_uc010okc.2_Splice_Site_p.V305_splice	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	305	EGF-like 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGTGCCAAGAAGGTATGCCTA	0.612000														34			17		0	0	0.00152264	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140718655	140718655	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140718655C>T	uc003ljk.2	+	0	302	c.117C>T	c.(115-117)atC>atT	p.I39I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.I39I	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	39	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAGAGATCGACAGAGGCT	0.607000											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			17		0	0	0.000566183	0	0
EIF4E2	9470	broad.mit.edu	37	2	233422643	233422643	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:233422643T>A	uc002vta.3	+	2	263	c.185T>A	c.(184-186)tTt>tAt	p.F62Y	EIF4E2_uc002vtb.1_Missense_Mutation_p.F62Y|EIF4E2_uc010zmi.1_Intron	NM_004846	NP_004837	O60573	IF4E2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 2 (EIF4E2), mRNA.	62					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AACTACACTTTTTGGTACTCC	0.522000														49			40		0	0	0.00170553	0	0
CLK2	1196	broad.mit.edu	37	1	155236605	155236605	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:155236605G>A	uc001fjy.3	-	6	1043	c.753C>T	c.(751-753)ttC>ttT	p.F251F	CLK2_uc001fjw.3_Silent_p.F250F|CLK2_uc001fjx.3_Silent_p.F23F|CLK2_uc009wqm.3_Silent_p.F251F	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	251	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGAGGAAATCGAAGGTGCTAA	0.547000								Other conserved DNA damage response genes						22			10		0	0	0.000673444	0	0
PSMB11	122706	broad.mit.edu	37	14	23512187	23512187	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:23512187C>T	uc010ake.1	+	0	812	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 11 (PSMB11), mRNA.	251					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TACAGAAGCTCCTGGAGCCGG	0.602000														15			7		0	0	8.12818e-05	0	0
POLE	5426	broad.mit.edu	37	12	133249242	133249242	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:133249242G>A	uc001uks.1	-	14	1701	c.1657C>T	c.(1657-1659)Cgc>Tgc	p.R553C	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.R526C	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	553					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|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|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)		ATATCGCTGCGGAAAACCCCA	0.587000								DNA polymerases (catalytic subunits)						40			27		0	0	0.00178596	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					53			68		0	0	0.000781405	0	0
SPTA1	6708	broad.mit.edu	37	1	158622276	158622276	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:158622276T>A	uc001fst.1	-	22	3555	c.3356A>T	c.(3355-3357)aAg>aTg	p.K1119M		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1119					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATCAAACTTTTTCTGCAG	0.398000														56			32		0	0	0.00111076	0	0
CYP2C19	1557	broad.mit.edu	37	10	96480239	96480239	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:96480239G>A	uc001kjv.4	+	5	1232	c.906G>A	c.(904-906)acG>acA	p.T302T	CYP2C19_uc001kjw.4_Silent_p.T243T|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	302					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CAGAGACAACGAGCACCACTC	0.423000														19			25		0	0	0.00106085	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533700	156533701	+	Missense_Mutation	DNP	CG	AT	AT	rs145478313		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:156533700_156533701CG>AT	uc003lwk.2	-	1	585_586	c.331_332CG>AT	c.(331-333)cgg>ATg	p.R111M	HAVCR2_uc003lwl.3_Missense_Mutation_p.R111M	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA.	111	Ig-like V-type.					integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATTTGGATCCGGCAGCAGTAG	0.436000														411			9		0	0	6.4e-05	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147019205	147019205	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:147019205C>T	uc010jgo.1	-	8	1668	c.1520G>A	c.(1519-1521)cGa>cAa	p.R507Q	JAKMIP2_uc003loq.1_Missense_Mutation_p.R507Q|JAKMIP2_uc011dbx.1_Missense_Mutation_p.R465Q|JAKMIP2_uc003lor.1_Missense_Mutation_p.R507Q|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	507						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGCTTCTCGTTCAGCGTC	0.448000														237			131		0	0	0.000781405	0	0
DIAPH3	81624	broad.mit.edu	37	13	60453373	60453373	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:60453373G>A	uc001vht.3	-	20	2816	c.2597C>T	c.(2596-2598)tCt>tTt	p.S866F	DIAPH3_uc001vhu.3_Missense_Mutation_p.S603F|DIAPH3_uc001vhv.3_Missense_Mutation_p.S444F	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	866	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTTACAGAGAGAGCTAAGGTT	0.353000														26			13		0	0	0.000219431	0	0
DNAH6	1768	broad.mit.edu	37	2	84780120	84780120	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:84780120C>T	uc010fgb.3	+	9	1701	c.1564C>T	c.(1564-1566)Cag>Tag	p.Q522*	DNAH6_uc002soo.3_Nonsense_Mutation_p.Q101*|DNAH6_uc002sop.3_Nonsense_Mutation_p.Q101*	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	522	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V521L(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTTGACAGTCCAGTCACTGCT	0.408000														73			46		0	0	0.000781405	0	0
FMNL2	114793	broad.mit.edu	37	2	153475610	153475610	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:153475610C>T	uc002tye.3	+	13	1932	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F	FMNL2_uc010fob.3_5'Flank|FMNL2_uc002tyf.3_5'Flank	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	522					actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GGGGCCGCTTCCTCAGGACCC	0.572000														19			10		0	0	0.000673444	0	0
PM20D1	148811	broad.mit.edu	37	1	205811876	205811876	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:205811876C>T	uc001hdj.3	-	6	907	c.831G>A	c.(829-831)ttG>ttA	p.L277L	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	277						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GTGTCTGCTCCAATCTGGAAG	0.473000														66			26		0	0	0.00047179	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33016551	33016551	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:33016551A>C	uc010abe.1	-	6	2145	c.2123T>G	c.(2122-2124)cTt>cGt	p.L708R	N4BP2L2_uc001uug.2_Missense_Mutation_p.L591R|N4BP2L2_uc010abd.1_Missense_Mutation_p.L621R|N4BP2L2_uc001uuh.2_Missense_Mutation_p.L539R|N4BP2L2_uc001uuj.2_Missense_Mutation_p.L127R|N4BP2L2_uc010tdz.1_Missense_Mutation_p.L693R	NM_033111	NP_149102	Q92802	N42L2_HUMAN	Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA.	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AGATCCAAAAAGCTTTACTAA	0.398000														10			10		0	0	0.000673444	0	0
PLCL1	5334	broad.mit.edu	37	2	198949555	198949555	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:198949555C>T	uc010fsp.3	+	1	1712	c.1314C>T	c.(1312-1314)ggC>ggT	p.G438G	PLCL1_uc002uuv.4_Silent_p.G359G	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	438	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGAAAATGGGCTGTCGAAGCG	0.413000														47			28		0	0	0.00106085	0	0
MUC16	94025	broad.mit.edu	37	19	9083027	9083027	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9083027A>T	uc002mkp.3	-	0	8992	c.8788T>A	c.(8788-8790)Tcc>Acc	p.S2930T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2931	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						GGAGACTTGGACAGTGAGGAA	0.468000														50			24		0	0	0.000878237	0	0
GFRAL	389400	broad.mit.edu	37	6	55223744	55223744	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:55223744G>A	uc003pcm.1	+	5	846	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	254						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAAGTGCCATGAAGATGAGAA	0.408000														70			25		0	0	0.00106085	0	0
C8orf47	203111	broad.mit.edu	37	8	99102037	99102037	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:99102037G>A	uc003yih.1	+	1	940	c.792G>A	c.(790-792)gaG>gaA	p.E264E	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	264	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TTCCCAAAGAGAATGTAACAC	0.448000														13			15		0	0	0.000422831	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093079	30093079	+	RNA	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:30093079C>T	uc010dmc.3	+	0		c.1454C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		GGAGCTCCTCCTGAGACCACC	0.572000														6			3		0	0	6.4e-05	0	0
FOXA1	3169	broad.mit.edu	37	14	38061585	38061585	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:38061585T>C	uc001wuf.3	-	1	716	c.404A>G	c.(403-405)aAc>aGc	p.N135S	FOXA1_uc010tpz.2_Missense_Mutation_p.N102S	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	135					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CATGCACGGGTTCATGGCGGC	0.736000														10			8		0	0	0.000157383	0	0
OR5B12	390191	broad.mit.edu	37	11	58207395	58207395	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:58207395G>A	uc010rkh.2	-	0	252	c.230C>T	c.(229-231)cCc>cTc	p.P77L		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CATCACCTTGGGAGTGACAGC	0.438000														5			13		0	0	0.000219431	0	0
ALK	238	broad.mit.edu	37	2	29917784	29917784	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:29917784G>A	uc002rmy.3	-	2	1836	c.884C>T	c.(883-885)tCc>tTc	p.S295F		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	295	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGCCTCCTCGGAGGGGATGCG	0.617000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					68			30		0	0	0.00058488	0	0
GABRA5	2558	broad.mit.edu	37	15	27159995	27159995	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:27159995G>A	uc001zbd.2	+	6	1075	c.543G>A	c.(541-543)ccG>ccA	p.P181P	GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Silent_p.P181P	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	181					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.P181L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGACTTCCCGATGGATGCGC	0.443000														31			13		0	0	0.000422831	0	0
PGM1	5236	broad.mit.edu	37	1	64095113	64095113	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:64095113C>T	uc010ooz.2	+	1	563	c.318C>T	c.(316-318)atC>atT	p.I106I	PGM1_uc001dbh.3_Silent_p.I88I|PGM1_uc010ooy.2_5'UTR	NM_001172818	NP_001166290	P36871	PGM1_HUMAN	Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.	88					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTTGGTTATCGGACAGAATG	0.473000														72			46		0	0	0.000781405	0	0
POM121	9883	broad.mit.edu	37	7	72413539	72413539	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:72413539C>T	uc003twk.2	+	10	3007	c.3007C>T	c.(3007-3009)Ccg>Tcg	p.P1003S	POM121_uc003twj.3_Missense_Mutation_p.P738S|POM121_uc010lam.1_Missense_Mutation_p.P738S	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1003	Pore side (Potential).				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)				CTCTGCAGCCCCGGCTGCTGC	0.657000														110			31		0	0	0.000953801	0	0
THSD7B	80731	broad.mit.edu	37	2	138400065	138400065	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:138400065G>A	uc002tva.1	+	19	3717	c.3717G>A	c.(3715-3717)atG>atA	p.M1239I	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TAGGTCGAATGAGCCGGACTC	0.483000														83			36		0	0	0.00111076	0	0
NPY1R	4886	broad.mit.edu	37	4	164247360	164247360	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:164247360T>A	uc003iqm.2	-	1	812	c.347A>T	c.(346-348)aAt>aTt	p.N116I	NPY1R_uc021xtv.1_Missense_Mutation_p.N116I|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	116					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)				CACAAAAGGATTCAACTTACA	0.448000														7			10		0	0	0.000673444	0	0
TUBB1	81027	broad.mit.edu	37	20	57599799	57599799	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:57599799G>A	uc002yak.3	+	3	1586	c.1317G>A	c.(1315-1317)acG>acA	p.T439T		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	439					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	AAGAGGTCACGGAGGAGGCAG	0.443000														31			6		0	0	8.12818e-05	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51281090	51281090	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:51281090A>G	uc001rwx.4	+	4	888	c.841A>G	c.(841-843)Aga>Gga	p.R281G	TMPRSS12_uc001rwy.3_3'UTR	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN	Homo sapiens transmembrane (C-terminal) protease, serine 12 (TMPRSS12), mRNA.	281	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.R281I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AGAATATAAAAGATTTTTTGT	0.408000														33			17		0	0	0.000422831	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185047	130185047	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:130185047G>A	uc009zyl.1	-	1	604	c.276C>T	c.(274-276)gtC>gtT	p.V92V		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	92						integral to membrane		p.P91S(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGCATTGAGGACAGGCAGCC	0.502000														32			21		0	0	0.000295444	0	0
PEAK1	79834	broad.mit.edu	37	15	77474242	77474242	+	Silent	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:77474242T>C	uc021sqy.1	-	4	603	c.27A>G	c.(25-27)gaA>gaG	p.E9E	PEAK1_uc002bcn.2_Silent_p.E9E|PEAK1_uc021sqz.1_5'Flank	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	9					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TCCAAACATGTTCAGTAAAGG	0.398000														43			34		0	0	0.00058488	0	0
KIAA1804	84451	broad.mit.edu	37	1	233512253	233512253	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:233512253C>T	uc001hvt.4	+	7	2165	c.1904C>T	c.(1903-1905)tCa>tTa	p.S635L	KIAA1804_uc001hvu.4_Missense_Mutation_p.S81L	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	635					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CCCTTGGCTTCATTGTTTGTG	0.413000														34			11		0	0	0.000151284	0	0
NOS1	4842	broad.mit.edu	37	12	117726024	117726024	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:117726024C>T	uc001twn.2	-	5	1693	c.982_splice	c.e5-1	p.E328_splice	NOS1_uc021ren.1_Splice_Site|NOS1_uc021reo.1_Splice_Site|NOS1_uc001twm.2_Splice_Site_p.E328_splice	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	328					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.E328K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CATCCCGTTTCCTGGAAGATC	0.507000														45			26		0	0	0.001512	0	0
PAPLN	89932	broad.mit.edu	37	14	73720524	73720524	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:73720524C>T	uc010ttx.2	+	10	1320	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	PAPLN_uc001xnw.4_Missense_Mutation_p.S359F|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.S386F	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	386	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CAGTCCCGCTCCGTGTACTGC	0.682000														41			21		0	0	0.000375601	0	0
BEST3	144453	broad.mit.edu	37	12	70070720	70070720	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:70070720G>A	uc001svg.3	-	6	1070	c.843C>T	c.(841-843)ttC>ttT	p.F281F	BEST3_uc001svd.2_Silent_p.F281F|BEST3_uc001svf.3_Intron|BEST3_uc010stm.2_Silent_p.F175F	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	281						chloride channel complex|plasma membrane	chloride channel activity	p.F281L(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CATAGAAGAAGAATTGTAGGA	0.478000														82			43		0	0	0.000680045	0	0
WNT7B	7477	broad.mit.edu	37	22	46327142	46327142	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:46327142C>T	uc010haa.2	-	2	545	c.418G>A	c.(418-420)Gag>Aag	p.E140K	WNT7B_uc003bgo.2_Missense_Mutation_p.E136K	NM_058238	NP_478679	P56706	WNT7B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7B (WNT7B), mRNA.	136					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CCCTGCTTCTCGCGGTCGCAG	0.682000														12			38		0	0	0.000374591	0	0
EHD2	30846	broad.mit.edu	37	19	48244619	48244619	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:48244619G>A	uc002phj.4	+	5	1812	c.1562G>A	c.(1561-1563)gGg>gAg	p.G521E	EHD2_uc010xyu.2_Missense_Mutation_p.G385E	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	521	EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding	p.H520H(1)		endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GAAGGCCACGGGCTGCCCGCC	0.697000														10			5		0	0	0.000602214	0	0
MXRA5	25878	broad.mit.edu	37	X	3238523	3238523	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:3238523T>A	uc004crg.4	-	4	5360	c.5203A>T	c.(5203-5205)Aac>Tac	p.N1735Y		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1735						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGAGTCTTGTTGGTAAAGAAA	0.463000														24			12		0	0	0.000978159	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597503	136597503	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:136597503T>C	uc003qgx.1	-	4	1413	c.1160A>G	c.(1159-1161)aAa>aGa	p.K387R	BCLAF1_uc003qgy.1_Missense_Mutation_p.K385R|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.K385R|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	387					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCCAGACTCTTTATCACTGAA	0.438000														237			49		0	0	0.000781405	0	0
MPV17	4358	broad.mit.edu	37	2	27535421	27535421	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:27535421G>A	uc002rjr.3	-	3	362	c.315C>T	c.(313-315)ctC>ctT	p.L105L	MPV17_uc002rjs.3_Silent_p.L105L|MPV17_uc002rjt.3_Non-coding_Transcript	NM_002437	NP_002428	P39210	MPV17_HUMAN	Homo sapiens MpV17 mitochondrial inner membrane protein (MPV17), nuclear gene encoding mitochondrial protein, mRNA.	105					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACCAGTGGGAGAAAGCAGC	0.567000														51			25		0	0	0.000878237	0	0
ALOX12B	242	broad.mit.edu	37	17	7979013	7979013	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:7979013G>A	uc002gjy.1	-	11	1815	c.1554C>T	c.(1552-1554)acC>acT	p.T518T		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	518	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGTAATAATAGGTGATGATCT	0.587000										Multiple Myeloma(8;0.094)				95			50		0	0	0.000781405	0	0
CDH20	28316	broad.mit.edu	37	18	59170282	59170282	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:59170282G>A	uc010dps.1	+	3	910	c.758G>A	c.(757-759)gGa>gAa	p.G253E	CDH20_uc002lif.2_Missense_Mutation_p.G247E	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	253	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CAGCTTGGAGGATTAGCTGGG	0.502000											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			26		0	0	0.000720815	0	0
BLK	640	broad.mit.edu	37	8	11415549	11415549	+	Splice_Site	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:11415549T>C	uc003wty.3	+	10	1610	c.1029_splice	c.e10+2	p.Q343_splice	BLK_uc003wua.3_5'Flank	NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	343	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)		TCGGCGCAGGTTGGTGAAGTA	0.547000														11			19		0	0	0.00121646	0	0
SLC25A31	83447	broad.mit.edu	37	4	128685492	128685492	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:128685492G>A	uc003ifl.3	+	2	601	c.455G>A	c.(454-456)cGa>cAa	p.R152Q		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	152					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GCCCGAACCCGATTAGGTGTC	0.398000														24			34		0	0	0.000491102	0	0
HTR5A	3361	broad.mit.edu	37	7	154876080	154876080	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:154876080G>A	uc003wlu.1	+	1	1021	c.957G>A	c.(955-957)tgG>tgA	p.W319*		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	319						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CCGCCATCTGGAAAAGCATCT	0.522000														72			93		0	0	0.000781405	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110464981	110464981	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:110464981C>T	uc003yne.3	+	42	6646	c.6542C>T	c.(6541-6543)tCc>tTc	p.S2181F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2181					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)			GATGCCTGGTCCTCCAATTTC	0.388000										HNSCC(38;0.096)				9			7		0	0	0.000274275	0	0
KLHL38	340359	broad.mit.edu	37	8	124658106	124658106	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:124658106G>A	uc003yqs.1	-	2	1643	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	540										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GAAGGAGGCGGAGTCCTCAAT	0.607000														44			25		0	0	0.000586117	0	0
SCNN1A	6337	broad.mit.edu	37	12	6463605	6463605	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:6463605C>T	uc001qnw.3	-	7	1801	c.1537_splice	c.e7+1	p.G513_splice	SCNN1A_uc001qnv.3_Splice_Site_p.G154_splice|SCNN1A_uc001qnx.3_Splice_Site_p.G454_splice|SCNN1A_uc010sfb.2_Splice_Site_p.G477_splice	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	454					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GAGTCTCACCCCAGGAACTGT	0.572000														57			40		0	0	0.000509022	0	0
MDN1	23195	broad.mit.edu	37	6	90385895	90385895	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:90385895C>T	uc003pnn.1	-	76	12687	c.12571G>A	c.(12571-12573)Gga>Aga	p.G4191R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4191					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCTGGCATCCATCCCATGAA	0.448000														51			27		0	0	0.001512	0	0
ESPNL	339768	broad.mit.edu	37	2	239010659	239010659	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:239010659C>T	uc002vxq.4	+	1	482	c.372C>T	c.(370-372)ctC>ctT	p.L124L		NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	124										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGTGGCTGCTCCACGAGGGCC	0.692000														10			4		0	0	0.00024832	0	0
PLD1	5337	broad.mit.edu	37	3	171330184	171330184	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:171330184G>A	uc003fhs.3	-	24	3114	c.2767C>T	c.(2767-2769)Cgt>Tgt	p.R923C	PLD1_uc003fht.3_Missense_Mutation_p.R885C|PLD1_uc003fhu.4_Missense_Mutation_p.R217C	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	923	Catalytic.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCACTGTCACGCTTTCCCAGC	0.507000														37			25		0	0	0.000878237	0	0
CAPN10	11132	broad.mit.edu	37	2	241533346	241533346	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:241533346C>T	uc002vzk.2	+	4	908	c.712C>T	c.(712-714)Cat>Tat	p.H238Y	CAPN10_uc010zoh.2_Missense_Mutation_p.H238Y|CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Missense_Mutation_p.H238Y|CAPN10_uc002vzn.2_Missense_Mutation_p.H110Y|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	238	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGGGGAGTTCCATGCCTTCAT	0.657000														102			55		0	0	0.000781405	0	0
DEFB118	117285	broad.mit.edu	37	20	29960918	29960918	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:29960918C>T	uc002wvr.3	+	1	350	c.317C>T	c.(316-318)tCt>tTt	p.S106F		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	106					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GTTGAAGAGTCTGAGGCGGGA	0.438000														34			16		0	0	0.00074312	0	0
SRGAP2	23380	broad.mit.edu	37	1	206628240	206628240	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:206628240G>A	uc001hdy.3	+	17	2117	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	SRGAP2_uc001hdx.3_Missense_Mutation_p.E706K|SRGAP2_uc010pru.2_Missense_Mutation_p.E705K	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	793					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CGGTGTCGTGGAGAGGTCCAG	0.587000														44			14		0	0	0.000308642	0	0
KLK3	354	broad.mit.edu	37	19	51358246	51358246	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:51358246T>G	uc021uyi.1	+	0	76	c.35T>G	c.(34-36)gTg>gGg	p.V12G	KLK3_uc002ptp.1_Missense_Mutation_p.V12G|KLK3_uc002pts.1_Missense_Mutation_p.V12G|KLK3_uc002ptr.1_Missense_Mutation_p.V12G|KLK3_uc010eof.1_Non-coding_Transcript	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	12					negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.S11F(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		ACCCTGTCCGTGACGTGGATT	0.647000														26			10		0	0	0.000978159	0	0
TMEM35	59353	broad.mit.edu	37	X	100349697	100349697	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:100349697C>T	uc004egw.3	+	1	412	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	Homo sapiens transmembrane protein 35 (TMEM35), mRNA.	86						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GCCTGGGCGTCCCAAAGATGT	0.532000														99			53		0	0	0.000781405	0	0
HEATR3	55027	broad.mit.edu	37	16	50136199	50136199	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:50136199C>T	uc002efw.3	+	13	1935	c.1773C>T	c.(1771-1773)acC>acT	p.T591T	HEATR3_uc002efx.3_Silent_p.T505T|HEATR3_uc021thw.1_Silent_p.T133T	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	591							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTGAAGTTACCACCAAAGATC	0.418000														67			29		0	0	0.00178596	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64569260	64569260	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:64569260C>T	uc003jtp.3	-	11	2341	c.1527G>A	c.(1525-1527)gaG>gaA	p.E509E	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Silent_p.E130E	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	509	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GACACCAGAGCTCTCTACACA	0.433000														73			47		0	0	0.000781405	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024677	55024677	+	Missense_Mutation	SNP	G	A	A	rs145545626		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:55024677G>A	uc002lgn.3	+	2	1193	c.836G>A	c.(835-837)gGa>gAa	p.G279E		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	279					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.G279E(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GCTTGGCCGGGAAATATAATG	0.408000														59			44		0	0	0.000781405	0	0
OR4F15	390649	broad.mit.edu	37	15	102358668	102358668	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:102358668C>T	uc010uts.2	+	0	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AGGCCATCTCCTTTCGGGGAT	0.443000														64			38		0	0	0.000953801	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412741	105412741	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:105412741G>A	uc010axc.1	-	6	9167	c.9047C>T	c.(9046-9048)tCc>tTc	p.S3016F	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S2916F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3016						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCTGCATGGAGGGGAGGCT	0.632000														109			60		0	0	0.000781405	0	0
RELB	5971	broad.mit.edu	37	19	45515487	45515487	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:45515487C>T	uc021uvq.1	+	3	588	c.457C>T	c.(457-459)Ctt>Ttt	p.L153F	RELB_uc021uvp.1_Missense_Mutation_p.L150F	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	153	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CGGCAGCATCCTTGGGGAGAG	0.756000														33			17		0	0	0.00152264	0	0
ENPP2	5168	broad.mit.edu	37	8	120608147	120608147	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:120608147C>T	uc003yos.2	-	11	1154	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ENPP2_uc003yor.2_5'Flank|ENPP2_uc010mdd.2_Intron|ENPP2_uc003yot.2_Intron	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	324					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|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)			TTCTTCTTTTCTTTGGAGGAG	0.443000														72			42		0	0	0.000589545	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373853	86373853	+	Silent	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:86373853T>A	uc010sum.2	-	5	882	c.723A>T	c.(721-723)tcA>tcT	p.S241S	MGAT4C_uc001tal.4_Silent_p.S217S|MGAT4C_uc001taj.4_Silent_p.S217S|MGAT4C_uc001tak.4_Silent_p.S217S|MGAT4C_uc001tai.4_Silent_p.S217S|MGAT4C_uc001tah.4_Silent_p.S217S	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	217					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATAATAGTCTGAAGTATTGG	0.333000														33			21		0	0	0.00152264	0	0
TAF1L	138474	broad.mit.edu	37	9	32632764	32632764	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:32632764G>A	uc003zrg.1	-	0	2904	c.2814C>T	c.(2812-2814)ttC>ttT	p.F938F	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	938					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|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			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)		TCTTCATCTGGAAATCTTCCT	0.468000														15			31		0	0	0.000409698	0	0
FBXO43	286151	broad.mit.edu	37	8	101146071	101146071	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:101146071G>A	uc003yjd.3	-	4	2822	c.2086C>T	c.(2086-2088)Cca>Tca	p.P696S	FBXO43_uc003yje.3_Missense_Mutation_p.P662S	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	696					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GCACTTCCTGGGAGAGCATCT	0.403000														43			41		0	0	0.00148497	0	0
SLC38A11	151258	broad.mit.edu	37	2	165809291	165809291	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:165809291C>T	uc002ucw.2	-	2	318	c.-13_splice	c.e2-1		SLC38A11_uc002ucu.2_Splice_Site|SLC38A11_uc002ucv.2_Splice_Site	NM_001199148	NP_001186077	Q08AI6	S38AB_HUMAN	Homo sapiens solute carrier family 38, member 11 (SLC38A11), transcript variant 1, mRNA.						amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ATAAGGCAATCCTGAAAAAAC	0.328000														39			26		0	0	0.00127121	0	0
OR2M2	391194	broad.mit.edu	37	1	248343365	248343365	+	Silent	SNP	C	T	T	rs149789397		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:248343365C>T	uc010pzf.2	+	0	78	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F26F(2)|p.T25S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CACACACGTTCCTCTTCTTTC	0.493000														181			69		0	0	0.000781405	0	0
SUMO1	7341	broad.mit.edu	37	2	203075522	203075522	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:203075522G>A	uc002uyz.1	-	3	321	c.173C>T	c.(172-174)cCa>cTa	p.P58L	SUMO1_uc002uza.1_Missense_Mutation_p.P33L	NM_001005781	NP_003343	P63165	SUMO1_HUMAN	Homo sapiens SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae) (SUMO1), transcript variant 2, mRNA.	58	Ubiquitin-like.				DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|palate development|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization	cytoplasm|nuclear membrane|nuclear pore|nuclear speck	ubiquitin protein ligase binding										TGAATTCATTGGAACACCCTA	0.318000														42			20		0	0	0.00152264	0	0
ABCC12	94160	broad.mit.edu	37	16	48142409	48142409	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:48142409G>A	uc002efc.1	-	16	2659	c.2313C>T	c.(2311-2313)tcC>tcT	p.S771S	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	771						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTTCCTGGGGGGATTCAGTCT	0.502000														50			43		0	0	0.000781405	0	0
CYP2S1	29785	broad.mit.edu	37	19	41703762	41703762	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:41703762G>A	uc002opw.3	+	2	477	c.422G>A	c.(421-423)gGg>gAg	p.G141E	CYP2S1_uc010xvx.2_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	141					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTGGGCATGGGGAAGCGAGAA	0.622000														26			26		0	0	0.00127121	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705314	41705314	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:41705314G>A	uc001uxu.1	-	0	1623	c.1334C>T	c.(1333-1335)cCt>cTt	p.P445L	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	445							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TCCAGTAATAGGGTCTCGCCC	0.468000														51			34		0	0	0.000814825	0	0
LMOD2	442721	broad.mit.edu	37	7	123302262	123302262	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:123302262A>T	uc003vky.2	+	1	779	c.622A>T	c.(622-624)Agc>Tgc	p.S208C		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	208						cytoskeleton	actin binding|tropomyosin binding										CAAGATTAAAAGCAATGACCC	0.473000														37			10		0	0	0.000673444	0	0
NMBR	4829	broad.mit.edu	37	6	142409714	142409714	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:142409714C>T	uc003qiu.3	-	0	223	c.82G>A	c.(82-84)Gat>Aat	p.D28N		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	28					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GGCAGGAAATCCCTTTCCCAC	0.607000														23			13		0	0	0.000219431	0	0
SHC4	399694	broad.mit.edu	37	15	49176514	49176514	+	Silent	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:49176514A>G	uc001zxb.1	-	3	1200	c.771T>C	c.(769-771)ttT>ttC	p.F257F		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA.	257	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TCATTCCTGAAAACTGAAGAT	0.323000														52			29		0	0	0.000339439	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985162	157985162	+	Missense_Mutation	SNP	C	T	T	rs146516476		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:157985162C>T	uc003wno.3	-	4	527	c.406G>A	c.(406-408)Gag>Aag	p.E136K	PTPRN2_uc003wnp.3_Missense_Mutation_p.E119K|PTPRN2_uc003wnq.3_Missense_Mutation_p.E136K|PTPRN2_uc003wnr.3_Missense_Mutation_p.E98K|PTPRN2_uc011kwa.2_Missense_Mutation_p.E159K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	136						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E136K(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TACCTCCTCTCGCTGCCAACG	0.632000														41			60		0	0	0.000781405	0	0
DDO	8528	broad.mit.edu	37	6	110734509	110734509	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:110734509G>A	uc003puc.3	-	1	245	c.241C>T	c.(241-243)Cct>Tct	p.P81S	METTL24_uc003pub.2_5'Flank|DDO_uc003pud.3_Missense_Mutation_p.P81S	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	53					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding			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)		TAAGTGTGAGGAATAAGCATT	0.443000														40			32		0	0	0.00058488	0	0
PRG4	10216	broad.mit.edu	37	1	186276363	186276363	+	Silent	SNP	G	A	A	rs113621509		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:186276363G>A	uc001gru.4	+	6	1563	c.1512G>A	c.(1510-1512)aaG>aaA	p.K504K	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.K463K|PRG4_uc009wyl.3_Silent_p.K411K|PRG4_uc009wym.3_Silent_p.K370K|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	504	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						CCACTCCCAAGGAGCCTGCAC	0.647000														30			13		0	0	0.000151284	0	0
SLC15A1	6564	broad.mit.edu	37	13	99356685	99356685	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:99356685T>A	uc001vno.3	-	16	1351	c.1274A>T	c.(1273-1275)aAt>aTt	p.N425I		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	425					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	p.T424T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CATAAATGCATTTGTCTATAG	0.418000														46			26		0	0	0.00106085	0	0
CCDC76	54482	broad.mit.edu	37	1	100613780	100613780	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:100613780C>T	uc001dsv.3	+	9	1167	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	CCDC76_uc010ouf.2_Non-coding_Transcript|CCDC76_uc009wea.3_Intron	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.	383					tRNA processing		metal ion binding|methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		TTGGAAACCTCAAATAGTACC	0.433000														43			33		0	0	0.000491102	0	0
OR9I1	219954	broad.mit.edu	37	11	57886273	57886273	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:57886273A>G	uc001nml.1	-	0	644	c.644T>C	c.(643-645)cTg>cCg	p.L215P	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				ATAGGAAATCAGGATGACGGA	0.478000														9			8		0	0	0.000157383	0	0
FREM1	158326	broad.mit.edu	37	9	14857659	14857659	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:14857659G>A	uc003zlm.3	-	5	1536	c.720C>T	c.(718-720)ttC>ttT	p.F240F	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	240					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.E239*(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCATCAGCAGGAACTCCTCAC	0.468000														18			21		0	0	0.000229342	0	0
QKI	9444	broad.mit.edu	37	6	163984665	163984665	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:163984665T>A	uc003qui.3	+	5	1399	c.848T>A	c.(847-849)tTa>tAa	p.L283*	QKI_uc003quj.3_Nonsense_Mutation_p.L275*|QKI_uc003quh.3_Nonsense_Mutation_p.L275*|QKI_uc003que.3_Nonsense_Mutation_p.L283*|QKI_uc003quf.3_Nonsense_Mutation_p.L283*|QKI_uc003qug.3_Nonsense_Mutation_p.L283*	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	283					RNA splicing|mRNA processing|mRNA transport|regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GAAGCTGGTTTAATCTATACA	0.463000														34			31		0	0	0.001512	0	0
N4BP2	55728	broad.mit.edu	37	4	40108641	40108641	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:40108641C>T	uc003guy.4	+	4	1833	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	N4BP2_uc010ifq.3_Missense_Mutation_p.R419C|N4BP2_uc010ifr.3_Missense_Mutation_p.R419C	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	499						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GAACCAGAATCGTGGTAAGAA	0.313000														40			23		0	0	0.000586117	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090558	91090558	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:91090558T>C	uc004efk.2	+	0	900	c.55T>C	c.(55-57)Ttc>Ctc	p.F19L	PCDH11X_uc004efl.2_Missense_Mutation_p.F19L|PCDH11X_uc010nmv.2_Missense_Mutation_p.F19L|PCDH11X_uc004efm.2_Missense_Mutation_p.F19L|PCDH11X_uc004efn.2_Missense_Mutation_p.F19L|PCDH11X_uc004efo.2_Missense_Mutation_p.F19L|PCDH11X_uc004efh.2_Missense_Mutation_p.F19L|PCDH11X_uc004efj.1_Missense_Mutation_p.F19L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	19					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATGCGTGGTGTTCCACTCTGG	0.483000														36			23		0	0	0.00047179	0	0
SALL3	27164	broad.mit.edu	37	18	76754644	76754644	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:76754644G>A	uc002lmt.3	+	1	2653	c.2653G>A	c.(2653-2655)Gac>Aac	p.D885N	SALL3_uc010dra.3_Missense_Mutation_p.D492N	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	885					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGCCGTGGGCGACCTGGAGAG	0.701000														21			16		0	0	0.00074312	0	0
ZIM3	114026	broad.mit.edu	37	19	57648328	57648328	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:57648328T>A	uc002qnz.1	-	3	540	c.154A>T	c.(154-156)Acc>Tcc	p.T52S		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTTTGGTGGTTTCCCCTTGT	0.507000														43			17		0	0	0.00121646	0	0
CLDN3	1365	broad.mit.edu	37	7	73184200	73184200	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:73184200C>T	uc003tzg.4	-	0	401	c.180G>A	c.(178-180)caG>caA	p.Q60Q		NM_001306	NP_001297	O15551	CLD3_HUMAN	Homo sapiens claudin 3 (CLDN3), mRNA.	60					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				TGCACTGCATCTGGCCGGTGC	0.652000														31			13		0	0	0.000151284	0	0
MED12	9968	broad.mit.edu	37	X	70338619	70338619	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:70338619G>A	uc004dyy.3	+	0	214	c.15G>A	c.(13-15)ggG>ggA	p.G5G	MED12_uc011mpq.1_Silent_p.G5G|MED12_uc004dyz.3_Silent_p.G5G|MED12_uc004dza.3_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	5					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGGCCTTCGGGATCTTGAGCT	0.667000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							5			9		0	0	0.000673444	0	0
FIG4	9896	broad.mit.edu	37	6	110110840	110110840	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:110110840A>C	uc003ptt.2	+	18	2355	c.2140A>C	c.(2140-2142)Act>Cct	p.T714P	FIG4_uc011eau.1_Missense_Mutation_p.T437P	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	714					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AAGTCCATTTACTGTGCGTAA	0.338000														54			24		0	0	0.00178596	0	0
BSND	7809	broad.mit.edu	37	1	55474242	55474242	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:55474242G>A	uc001cye.3	+	3	1147	c.904G>A	c.(904-906)Gga>Aga	p.G302R		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	302						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GCTGCCAGATGGAGCCGGGGA	0.582000														48			20		0	0	0.000229342	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090420	238090420	+	RNA	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:238090420C>T	uc010pyc.2	+	11		c.1926C>T								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		TGTGCGTGGCCCTGGAGGAGC	0.567000														25			8		0	0	0.000274275	0	0
AADACL2	344752	broad.mit.edu	37	3	151463442	151463442	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:151463442A>G	uc003ezc.3	+	3	697	c.577A>G	c.(577-579)Aat>Gat	p.N193D	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	193						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCTGGGGGCAATTTAGCAAC	0.383000														44			25		0	0	0.000720815	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724103	7724103	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:7724103G>A	uc001aoi.3	+	8	1703	c.1496G>A	c.(1495-1497)gGg>gAg	p.G499E		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	499	Poly-Gly.				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)		CAGACGTACGGGGGTGGAGGC	0.592000			T	WWTR1	epitheliod hemangioendothelioma									52			25		0	0	0.00178596	0	0
PTPN6	5777	broad.mit.edu	37	12	7069157	7069157	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:7069157G>A	uc001qsb.2	+	12	1671	c.1429_splice	c.e12+1	p.G477_splice	PTPN6_uc001qsa.1_Splice_Site_p.G479_splice|PTPN6_uc010sfr.1_Splice_Site_p.G438_splice|PTPN6_uc009zfl.1_Splice_Site_p.G477_splice|PTPN6_uc010sfs.1_Splice_Site_p.G465_splice	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	477	Tyrosine-protein phosphatase.				G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CTCCACCAAGGGTGAGGGGCA	0.657000														51			27		0	0	0.00127121	0	0
GJA8	2703	broad.mit.edu	37	1	147380300	147380300	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:147380300C>T	uc021ovm.1	+	0	218	c.218C>T	c.(217-219)tCc>tTc	p.S73F	GJA8_uc001epu.2_Missense_Mutation_p.S73F	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	73					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TTTCCCATCTCCCACATTCGC	0.622000														34			15		0	0	0.000422831	0	0
KAT6A	7994	broad.mit.edu	37	8	41791374	41791374	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:41791374G>A	uc010lxb.3	-	17	4908	c.4364C>T	c.(4363-4365)aCc>aTc	p.T1455I	KAT6A_uc010lxc.3_Missense_Mutation_p.T1455I|KAT6A_uc003xon.4_Missense_Mutation_p.T1455I	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1455					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ACTCTGCAGGGTCTGACACGC	0.527000														64			29		0	0	0.000409698	0	0
LILRB1	10859	broad.mit.edu	37	19	55143137	55143137	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:55143137C>T	uc002qgj.3	+	4	597	c.257C>T	c.(256-258)cCa>cTa	p.P86L	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.P86L|LILRB1_uc002qgk.3_Missense_Mutation_p.P86L|LILRB1_uc002qgm.3_Missense_Mutation_p.P86L|LILRB1_uc010erq.3_Missense_Mutation_p.P86L|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	86	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TTCCCCATCCCATCCATCACC	0.552000										HNSCC(37;0.09)				40			25		0	0	0.000720815	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053711	95053711	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:95053711C>T	uc001ydm.2	+	2	222	c.12C>T	c.(10-12)ttC>ttT	p.F4F	SERPINA5_uc010ave.2_Silent_p.F4F|SERPINA5_uc001ydn.1_Silent_p.F4F	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	4					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGCAGCTCTTCCTCCTCTTGT	0.587000														64			29		0	0	0.00058488	0	0
KIAA0430	9665	broad.mit.edu	37	16	15724341	15724341	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:15724341C>T	uc002ddr.3	-	6	1579	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	KIAA0430_uc002ddq.3_Missense_Mutation_p.E457K|KIAA0430_uc010uzv.2_Missense_Mutation_p.E455K|KIAA0430_uc010uzw.2_Missense_Mutation_p.E458K	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	457						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCACTAAGTTCCAATGCAAAA	0.438000														23			25		0	0	0.000878237	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23391184	23391184	+	Silent	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:23391184T>A	uc003swg.3	-	5	689	c.423A>T	c.(421-423)ggA>ggT	p.G141G		NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	141	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CTAACTGAAATCCATTCAGTT	0.493000														42			30		0	0	0.000339439	0	0
MCCD1	401250	broad.mit.edu	37	6	31496962	31496962	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:31496962G>A	uc003ntp.1	+	1	224	c.171_splice	c.e1+1	p.R57_splice		NM_001011700	NP_001011700	P59942	MCCD1_HUMAN	Homo sapiens mitochondrial coiled-coil domain 1 (MCCD1), nuclear gene encoding mitochondrial protein, mRNA.	57						mitochondrion				skin(1)	1						CCCCTCCCAGGGTAAGTGGCA	0.567000														29			11		0	0	0.000978159	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033683	82033683	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:82033683T>C	uc002fgu.3	-	2	343	c.215A>G	c.(214-216)gAc>gGc	p.D72G		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	72					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						ACAAGTGACGTCTGCATCCTG	0.493000														57			52		0	0	0.000781405	0	0
DPYS	1807	broad.mit.edu	37	8	105405064	105405064	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:105405064G>A	uc003yly.4	-	7	1520	c.1391C>T	c.(1390-1392)cCt>cTt	p.P464L	DPYS_uc010mcf.1_Missense_Mutation_p.P34L	NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	464					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)			TGGTTTTCGAGGAATAAACTT	0.493000														106			45		0	0	0.000589545	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236204	140236204	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140236204C>T	uc003lhx.2	+	0	571	c.571C>T	c.(571-573)Cca>Tca	p.P191S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.P191S|PCDHAC2_uc011dad.2_Missense_Mutation_p.P191S	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	207	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACAAATTCCCAGTGCTTGT	0.403000														45			37		0	0	0.000814825	0	0
PDIA3	2923	broad.mit.edu	37	15	44062493	44062493	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:44062493G>A	uc001zsu.3	+	10	1460	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	PDIA3_uc010bdp.3_Missense_Mutation_p.A418T|PDIA3_uc010ued.2_Missense_Mutation_p.A212T	NM_005313	NP_005304	P30101	PDIA3_HUMAN	Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA.	438	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein import into nucleus|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GGATGCCACAGCCAATGATGT	0.398000														33			14		0	0	0.000566183	0	0
POPDC2	64091	broad.mit.edu	37	3	119367478	119367478	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:119367478G>A	uc003ecx.1	-	2	772	c.638C>T	c.(637-639)tCc>tTc	p.S213F	POPDC2_uc010hqw.1_Missense_Mutation_p.S213F|POPDC2_uc003ecy.1_Missense_Mutation_p.S31F	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	Homo sapiens popeye domain containing 2 (POPDC2), mRNA.	213						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCGGGGCCAGGAAATGTAGCT	0.473000														44			29		0	0	0.00111076	0	0
TRPM6	140803	broad.mit.edu	37	9	77343228	77343228	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:77343228C>A	uc004ajl.1	-	37	6100	c.5862G>T	c.(5860-5862)ttG>ttT	p.L1954F	TRPM6_uc004ajk.1_Missense_Mutation_p.L1949F|TRPM6_uc022bib.1_Missense_Mutation_p.L1949F|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.L905F|TRPM6_uc010mpd.1_Missense_Mutation_p.L787F|TRPM6_uc010mpe.1_Missense_Mutation_p.L501F|TRPM6_uc004ajj.1_Missense_Mutation_p.L910F	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1954	Alpha-type protein kinase.				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						CATCTTCCCCCAAATTGGCCG	0.423000														13			12		0.000978159	0.00542844	0.000978159	1	0
OR5H14	403273	broad.mit.edu	37	3	97868711	97868711	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:97868711G>A	uc003dsg.1	+	0	482	c.482G>A	c.(481-483)gGa>gAa	p.G161E		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATCCATGAAGGATTTTTATTC	0.348000														79			39		0	0	0.000953801	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561311	44561311	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:44561311C>T	uc002lcr.1	-	0	678	c.325G>A	c.(325-327)Gcc>Acc	p.A109T	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	109					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAGCCCCAGGCCTTTTCCTGG	0.662000														47			26		0	0	0.001512	0	0
FAM188B	84182	broad.mit.edu	37	7	30921964	30921964	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:30921964C>T	uc003tbt.3	+	15	2217	c.2140C>T	c.(2140-2142)Cgg>Tgg	p.R714W	FAM188B_uc010kwe.3_Missense_Mutation_p.R685W|FAM188B_uc011kac.1_Missense_Mutation_p.R60W|FAM188B_uc003tbu.3_Missense_Mutation_p.R234W	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	714										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGCAGATCCGGCTGACCAT	0.627000														19			6		0	0	0.00116845	0	0
CCDC146	57639	broad.mit.edu	37	7	76908140	76908140	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:76908140A>T	uc003uga.3	+	11	1639	c.1512A>T	c.(1510-1512)aaA>aaT	p.K504N	CCDC146_uc010ldp.3_Missense_Mutation_p.K218N	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	504	Poly-Lys.									breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGAAGAAAAAATGTGAAATTT	0.299000														44			24		0	0	0.000375601	0	0
ATG4A	115201	broad.mit.edu	37	X	107393483	107393484	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:107393483_107393484CC>AA	uc004enr.3	+	9	1074_1075	c.916_917CC>AA	c.(916-918)cca>AAa	p.P306K	ATG4A_uc004ens.3_Missense_Mutation_p.P222K|ATG4A_uc011msl.2_Missense_Mutation_p.P160K|ATG4A_uc010npi.3_Non-coding_Transcript|ATG4A_uc004ent.3_Missense_Mutation_p.P244K|COL4A6_uc011msm.1_Intron	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog A (S. cerevisiae) (ATG4A), transcript variant 1, mRNA.	306					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						CCTGCAGTCCCCACAGCGAATG	0.490000														171			8		0	0	6.4e-05	0	0
BTBD1	53339	broad.mit.edu	37	15	83725214	83725214	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:83725214G>A	uc002bjn.3	-	1	688	c.485C>T	c.(484-486)gCc>gTc	p.A162V	BTBD1_uc002bjo.3_Missense_Mutation_p.A162V	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA.	162						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TGCTTCCAAGGCTGGGACTGC	0.378000														30			23		0	0	0.000295444	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30683055	30683055	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:30683055C>T	uc010gvs.2	-	2	653	c.255G>A	c.(253-255)agG>agA	p.R85R	TBC1D10A_uc003ahd.3_Intron|TBC1D10A_uc003ahf.3_Intron|TBC1D10A_uc003ahg.3_Intron|TBC1D10A_uc003ahh.3_Intron|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc010gvr.3_Intron			Q9BXI6	TB10A_HUMAN	Homo sapiens GATS protein-like 3 (GATSL3), mRNA.	0						intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGGCCGGGGTCCTCCTGCCCC	0.677000											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		5			17		0	0	0.000566183	0	0
ATP9A	10079	broad.mit.edu	37	20	50230311	50230311	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:50230311G>A	uc002xwg.1	-	22	2476	c.2476C>T	c.(2476-2478)Cgg>Tgg	p.R826W	ATP9A_uc010gih.1_Missense_Mutation_p.R690W|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	826					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(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATAAGCAACCGGCCAAGATGC	0.502000														113			75		0	0	0.000781405	0	0
FAM9B	171483	broad.mit.edu	37	X	8997363	8997363	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:8997363T>A	uc004csh.3	-	4	687	c.498A>T	c.(496-498)gaA>gaT	p.E166D	FAM9B_uc011mhu.2_Missense_Mutation_p.E126D			Q8IZU0	FAM9B_HUMAN	Homo sapiens family with sequence similarity 9, member B (FAM9B), mRNA.	126						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				Gttcttcctcttctccctctt	0.383000														9			13		0	0	0.00136819	0	0
MUC16	94025	broad.mit.edu	37	19	9046254	9046254	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9046254G>A	uc002mkp.3	-	4	35581	c.35377C>T	c.(35377-35379)Cct>Tct	p.P11793S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11795	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						GATACTTGAGGAAACACAGTT	0.478000														16			17		0	0	0.000566183	0	0
LILRB1	10859	broad.mit.edu	37	19	55143065	55143065	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:55143065G>A	uc002qgj.3	+	4	525	c.185G>A	c.(184-186)aGa>aAa	p.R62K	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.R62K|LILRB1_uc002qgk.3_Missense_Mutation_p.R62K|LILRB1_uc002qgm.3_Missense_Mutation_p.R62K|LILRB1_uc010erq.3_Missense_Mutation_p.R62K|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	62	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.Y61H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CGTCTATATAGAGAAAAGAAA	0.582000										HNSCC(37;0.09)				51			36		0	0	0.000692331	0	0
PTPN13	5783	broad.mit.edu	37	4	87724993	87724993	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:87724993C>T	uc003hpz.3	+	42	7117	c.6637C>T	c.(6637-6639)Cct>Tct	p.P2213S	PTPN13_uc003hpy.3_Missense_Mutation_p.P2218S|PTPN13_uc003hqa.3_Missense_Mutation_p.P2194S|PTPN13_uc003hqb.3_Missense_Mutation_p.P2022S|PTPN13_uc003hqc.1_Missense_Mutation_p.P579S	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2213	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.P2218T(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAAGGAATTCCTTCTAAGGA	0.443000														21			44		0	0	0.000781405	0	0
ZNF519	162655	broad.mit.edu	37	18	14124377	14124377	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:14124377C>T	uc002kst.2	-	1	315	c.102G>A	c.(100-102)ttG>ttA	p.L34L	ZNF519_uc002ksr.2_Intron|ZNF519_uc002ksq.2_Non-coding_Transcript	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA.	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TGTAGTTCTCCAACATCACAT	0.403000														42			5		0	0	0.000602214	0	0
ZNF479	90827	broad.mit.edu	37	7	57188644	57188644	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:57188644G>A	uc010kzo.3	-	4	749	c.478C>T	c.(478-480)Cat>Tat	p.H160Y		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ACATATTTATGAGTCTGAAAT	0.303000														43			36		0	0	0.00111076	0	0
CEP76	79959	broad.mit.edu	37	18	12699056	12699056	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:12699056G>A	uc002kri.3	-	3	598	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.2_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_3'UTR	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	148					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTTTAGAACGAAAACGTTGG	0.373000														13			27		0	0	0.00106085	0	0
GPR112	139378	broad.mit.edu	37	X	135430106	135430106	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:135430106C>T	uc004ezu.1	+	5	4532	c.4241C>T	c.(4240-4242)tCa>tTa	p.S1414L	GPR112_uc010nsb.1_Missense_Mutation_p.S1209L|GPR112_uc010nsc.1_Missense_Mutation_p.S1181L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1414					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGGATACTTCATTTGTAGAT	0.428000														81			38		0	0	0.000814825	0	0
ITK	3702	broad.mit.edu	37	5	156641224	156641224	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:156641224G>T	uc003lwo.1	+	3	430	c.348G>T	c.(346-348)ttG>ttT	p.L116F		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	116					T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATAACAGTTTGGTGCCTAAAT	0.443000			T	SYK	peripheral T-cell lymphoma									327			10		0.000978159	0.00542844	0.000978159	1	0
SCUBE3	222663	broad.mit.edu	37	6	35208186	35208186	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:35208186C>T	uc003okf.1	+	8	994	c.988C>T	c.(988-990)Cac>Tac	p.H330Y	SCUBE3_uc003okg.1_Missense_Mutation_p.H329Y|SCUBE3_uc003okh.1_Missense_Mutation_p.H217Y	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	330	EGF-like 8; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AACCTGTGACCACATATGTGT	0.488000														31			14		0	0	0.000566183	0	0
CPA6	57094	broad.mit.edu	37	8	68419059	68419059	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:68419059C>T	uc003xxq.4	-	5	855	c.599G>A	c.(598-600)tGg>tAg	p.W200*	CPA6_uc003xxr.4_Nonsense_Mutation_p.W52*|CPA6_uc003xxs.2_Nonsense_Mutation_p.W200*	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	200					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AGGACCAATCCATTCTCTTGC	0.423000														40			27		0	0	0.000692331	0	0
FSIP2	401024	broad.mit.edu	37	2	186673690	186673690	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:186673690A>G	uc002upl.3	+	16	19924	c.19924A>G	c.(19924-19926)Aaa>Gaa	p.K6642E	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACCTCTTGAGAAACTTAAGCA	0.338000														15			22		0	0	0.000229342	0	0
C5orf49	134121	broad.mit.edu	37	5	7835598	7835598	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:7835598G>A	uc003jea.4	-	1	291	c.161C>T	c.(160-162)tCc>tTc	p.S54F		NM_001089584	NP_001083053	A4QMS7	CE049_HUMAN	Homo sapiens chromosome 5 open reading frame 49 (C5orf49), mRNA.	54										large_intestine(3)|lung(5)|skin(1)	9						ATCATAGAGGGAAATAATTCC	0.428000														35			23		0	0	0.000586117	0	0
EMR3	84658	broad.mit.edu	37	19	14752279	14752279	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:14752279G>A	uc002mzi.4	-	9	1348	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	EMR3_uc010dzp.3_Silent_p.F348F|EMR3_uc010xnv.2_Silent_p.F274F	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	400					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGTGGGCCAGGAAGAGGCAGA	0.577000														43			18		0	0	0.00121646	0	0
GRIK1	2897	broad.mit.edu	37	21	30949456	30949456	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:30949456C>T	uc002yno.1	-	13	2422	c.1958G>A	c.(1957-1959)gGg>gAg	p.G653E	GRIK1_uc002ynn.3_Missense_Mutation_p.G638E|GRIK1_uc011acs.2_Missense_Mutation_p.G653E|GRIK1_uc011act.2_Missense_Mutation_p.G514E	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	653					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CCACCATATCCCTCCAACTAT	0.463000														64			23		0	0	0.00047179	0	0
CLGN	1047	broad.mit.edu	37	4	141320054	141320054	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:141320054C>T	uc011chi.2	-	8	1053	c.835G>A	c.(835-837)Gat>Aat	p.D279N	CLGN_uc003iii.3_Missense_Mutation_p.D279N	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	279					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	p.W278C(1)|p.W278*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GCTCTTTCATCCCATTCCTCA	0.403000														43			47		0	0	0.000781405	0	0
FUS	2521	broad.mit.edu	37	16	31202393	31202393	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:31202393G>A	uc002ebf.3	+	13	1608	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	FUS_uc002ebe.2_Silent_p.G497G|FUS_uc002ebg.3_Silent_p.G296G|FUS_uc002ebh.3_Silent_p.G500G	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	501	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding	p.G500G(1)	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GGGGTGGTGGGGACAGAGGTG	0.592000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""									32			13		0	0	0.000151284	0	0
WWP2	11060	broad.mit.edu	37	16	69951744	69951744	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:69951744C>T	uc002exu.1	+	10	1226	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	WWP2_uc002exv.1_Silent_p.L379L|WWP2_uc010vlm.1_Silent_p.L263L|WWP2_uc010vln.1_5'UTR	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	379					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGAATCAGCTCCAGGGGGCCA	0.617000														20			6		0	0	0.000157383	0	0
VAV1	7409	broad.mit.edu	37	19	6822340	6822341	+	Splice_Site	DNP	GG	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:6822340_6822341GG>AA	uc002mfu.1	+	5	655	c.558_splice	c.e5+1	p.P186_splice	VAV1_uc010xjh.1_Splice_Site_p.P186_splice|VAV1_uc010dva.1_Splice_Site_p.P186_splice|VAV1_uc002mfv.1_Splice_Site_p.P131_splice	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	186					T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGTCCATGCCGGTGCGTGACGT	0.673000														6			4		0	0	6.4e-05	0	0
DCAF5	8816	broad.mit.edu	37	14	69522018	69522018	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:69522018G>A	uc001xkp.3	-	8	1604	c.1385C>T	c.(1384-1386)tCg>tTg	p.S462L	DCAF5_uc001xkq.3_Missense_Mutation_p.S461L	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	462						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CAATGAGGCCGAAGACTCTGA	0.612000														22			15		0	0	0.000308642	0	0
CCAR1	55749	broad.mit.edu	37	10	70514543	70514543	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:70514543G>A	uc001joo.3	+	11	1536	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Missense_Mutation_p.E278K|CCAR1_uc009xpx.1_Missense_Mutation_p.E447K|CCAR1_uc001jon.1_Missense_Mutation_p.E419K|CCAR1_uc010qiz.1_Missense_Mutation_p.E458K|CCAR1_uc010qja.1_Missense_Mutation_p.E458K|CCAR1_uc010qjb.2_Non-coding_Transcript|SNORD98_uc001jop.1_5'Flank	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	473					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GGACCCACAAGAACTTCGAGA	0.368000														14			38		0	0	0.000374591	0	0
RPH3AL	9501	broad.mit.edu	37	17	97003	97003	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:97003C>T	uc002fre.2	-	6	855	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	RPH3AL_uc010vpy.2_Missense_Mutation_p.R171Q|RPH3AL_uc021tmx.1_Missense_Mutation_p.R171Q|RPH3AL_uc002frf.2_Missense_Mutation_p.R142Q|RPH3AL_uc010cjl.2_Missense_Mutation_p.R142Q	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	Homo sapiens rabphilin 3A-like (without C2 domains) (RPH3AL), transcript variant 1, mRNA.	171					exocytosis|intracellular protein transport	transport vesicle membrane	Rab GTPase binding|cytoskeletal protein binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		GTCATCAGCTCGGCCAGGGGT	0.622000														25			12		0	0	0.00136819	0	0
GPR98	84059	broad.mit.edu	37	5	89990185	89990185	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:89990185T>A	uc003kju.3	+	32	7708	c.7612T>A	c.(7612-7614)Ttt>Att	p.F2538I	GPR98_uc003kjt.3_Missense_Mutation_p.F244I|GPR98_uc003kjv.3_Missense_Mutation_p.F138I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2538	Calx-beta 17.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.S2537C(1)		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)		GGATGAGAGTTTTCTAATTTC	0.418000														50			24		0	0	0.00047179	0	0
ANO2	57101	broad.mit.edu	37	12	5915239	5915239	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:5915239C>T	uc001qnm.2	-	8	1029	c.957G>A	c.(955-957)gaG>gaA	p.E319E		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	324						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						TCATATCGTCCTCTGGACTAT	0.473000														31			18		0	0	0.000229342	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148084	70148084	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:70148084C>T	uc004dyn.3	-	4	905	c.731G>A	c.(730-732)gGa>gAa	p.G244E	SLC7A3_uc004dyo.3_Missense_Mutation_p.G244E	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	244					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGGCACAAATCCTCCAGAGCC	0.493000														15			6		0	0	0.000157383	0	0
PRLR	5618	broad.mit.edu	37	5	35065712	35065712	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:35065712G>A	uc003jjm.3	-	9	1907	c.1348C>T	c.(1348-1350)Ctg>Ttg	p.L450L	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Silent_p.L349L|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	450					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCATTCAACAGAGTGGCCGGT	0.512000														89			39		0	0	0.000781405	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50416522	50416522	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:50416522C>T	uc003daq.3	-	12	1298	c.1260_splice	c.e12+1	p.T420_splice	CACNA2D2_uc003dap.3_Splice_Site_p.T420_splice	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	420	VWFA.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TTGAGCCTCACCGTCCGGTTT	0.592000														16			13		0	0	0.000219431	0	0
TACC2	10579	broad.mit.edu	37	10	123844662	123844662	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:123844662G>A	uc001lfv.3	+	3	3007	c.2647G>A	c.(2647-2649)Gaa>Aaa	p.E883K	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.E883K|TACC2_uc010qtv.2_Missense_Mutation_p.E883K	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	883						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAACCTCAGGAAGATAACAA	0.502000														14			15		0	0	0.000308642	0	0
NLRP13	126204	broad.mit.edu	37	19	56419288	56419288	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:56419288C>T	uc010ygg.2	-	6	2342	c.2317G>A	c.(2317-2319)Gac>Aac	p.D773N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	773							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)		ATAATGAGGTCCTGCAGAACC	0.512000														61			33		0	0	0.000953801	0	0
OR51A2	401667	broad.mit.edu	37	11	4976637	4976637	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:4976637C>T	uc010qyt.2	-	0	307	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGAAGAATTCCTGGGCAAAG	0.448000														26			56		0	0	0.000781405	0	0
ALOX12B	242	broad.mit.edu	37	17	7989457	7989457	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:7989457A>T	uc002gjy.1	-	1	490	c.229T>A	c.(229-231)Ttc>Atc	p.F77I	MIR4314_uc021tpn.1_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	77	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TCCTTGGGGAAGAAGGCGTAC	0.592000										Multiple Myeloma(8;0.094)				27			12		0	0	0.000978159	0	0
IKBKB	3551	broad.mit.edu	37	8	42175288	42175288	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:42175288C>T	uc003xow.2	+	12	1426	c.1240_splice	c.e12+1	p.L414_splice	IKBKB_uc010lxh.2_Splice_Site_p.L309_splice|IKBKB_uc011lco.2_Splice_Site|IKBKB_uc003xox.2_Splice_Site_p.L135_splice|IKBKB_uc010lxj.2_Splice_Site_p.L191_splice|IKBKB_uc011lcp.2_Splice_Site|IKBKB_uc011lcq.2_Splice_Site_p.L412_splice|IKBKB_uc010lxi.2_Splice_Site|IKBKB_uc011lcr.2_Splice_Site_p.L355_splice	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	414					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|IkappaB kinase activity|identical protein binding			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TCAGCTGTATCCGTAAGAATT	0.428000														43			19		0	0	0.000958276	0	0
ABCB1	5243	broad.mit.edu	37	7	87175237	87175237	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:87175237C>T	uc003uiz.2	-	15	2322	c.1829G>A	c.(1828-1830)gGa>gAa	p.G610E	ABCB1_uc011khc.2_Missense_Mutation_p.G546E	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	610	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATCATGATTTCCTTTCTCCAC	0.398000														73			23		0	0	0.000375601	0	0
ZNF565	147929	broad.mit.edu	37	19	36673547	36673547	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:36673547G>A	uc002odn.3	-	4	1429	c.1321C>T	c.(1321-1323)Cac>Tac	p.H441Y	ZNF565_uc010ees.3_Missense_Mutation_p.H376Y|ZNF565_uc002odo.3_Missense_Mutation_p.H441Y	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	Homo sapiens zinc finger protein 565 (ZNF565), transcript variant 2, mRNA.	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCACAAGTGTGAATTCGCTGA	0.418000														20			15		0	0	0.000566183	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303812	151303812	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:151303812G>A	uc022cgz.1	-	0	281	c.281C>T	c.(280-282)cCc>cTc	p.P94L	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.P94L|MAGEA10_uc004ffm.2_Missense_Mutation_p.P94L|MAGEA10_uc004ffl.3_Missense_Mutation_p.P94L	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	94								p.P94T(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACGACCGAGGGGGAGGAGCA	0.547000														177			70		0	0	0.000781405	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857332	9857332	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:9857332G>A	uc010uym.2	-	13	4379	c.4069C>T	c.(4069-4071)Ctc>Ttc	p.L1357F	GRIN2A_uc002czo.4_Missense_Mutation_p.L1357F|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1357					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.L1357L(1)		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)	TCTGGCAAGAGAGACTTGCTC	0.532000														41			18		0	0	0.000566183	0	0
PARS2	25973	broad.mit.edu	37	1	55223545	55223545	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:55223545G>A	uc021ont.1	-	0	1290	c.1290C>T	c.(1288-1290)taC>taT	p.Y430Y	PARS2_uc001cxy.3_Silent_p.Y430Y	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (putative) (PARS2), nuclear gene encoding mitochondrial protein, mRNA.	430					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TCACAAAGGGGTAGCCAAACT	0.547000														68			31		0	0	0.00178596	0	0
KIF26B	55083	broad.mit.edu	37	1	245775268	245775268	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:245775268G>A	uc001ibf.1	+	8	2528	c.2088G>A	c.(2086-2088)ggG>ggA	p.G696G	KIF26B_uc010pyq.1_Silent_p.G696G|KIF26B_uc001ibg.1_Silent_p.G314G	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	696	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGAAGAGCGGGAAAGGGGGAA	0.587000														39			11		0	0	0.000151284	0	0
MAN1A1	4121	broad.mit.edu	37	6	119569520	119569520	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:119569520C>T	uc003pym.1	-	6	1340	c.898_splice	c.e6-1	p.I300_splice	MAN1A1_uc010kei.2_Splice_Site_p.I323_splice	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	300					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TTCGAAAAATCTGAAAAGTCA	0.338000														18			15		0	0	0.000422831	0	0
XIRP1	165904	broad.mit.edu	37	3	39225664	39225664	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:39225664C>T	uc003cjk.2	-	1	5502	c.5273G>A	c.(5272-5274)aGc>aAc	p.S1758N	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.S441N|XIRP1_uc021wvz.1_Missense_Mutation_p.S1758N	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1758	Interaction with FLNC.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTGTTGTGAGCTCCCTGGCCC	0.577000														79			62		0	0	0.000781405	0	0
TLN2	83660	broad.mit.edu	37	15	63058542	63058542	+	Missense_Mutation	SNP	C	T	T	rs142261304		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:63058542C>T	uc002alb.4	+	37	5117	c.5117C>T	c.(5116-5118)tCg>tTg	p.S1706L	TLN2_uc002alc.4_Missense_Mutation_p.S99L|TLN2_uc002ald.3_Missense_Mutation_p.S99L	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1706					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						CAGCTGACTTCGGTGGTCCAG	0.557000														36			21		0	0	0.000295444	0	0
ASTN1	460	broad.mit.edu	37	1	176927571	176927571	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:176927571C>T	uc001glc.3	-	9	1858	c.1646G>A	c.(1645-1647)aGc>aAc	p.S549N	ASTN1_uc001glb.1_Missense_Mutation_p.S549N|ASTN1_uc001gld.1_Missense_Mutation_p.S549N|ASTN1_uc009wwx.1_Missense_Mutation_p.S549N	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	557					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						AATCACAAAGCTCTTGCTGAG	0.562000														15			6		0	0	0.00116845	0	0
HNF1B	6928	broad.mit.edu	37	17	36099441	36099441	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:36099441C>T	uc002hok.4	-	1	755	c.534G>A	c.(532-534)gaG>gaA	p.E178E	HNF1B_uc010wdi.2_Silent_p.E178E|HNF1B_uc021tvv.1_Silent_p.E178E|HNF1B_uc021tvw.1_Silent_p.E178E	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	178					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTCGGAGGATCTCTCGTTGCT	0.542000														171			124		0	0	0.000781405	0	0
CADM2	253559	broad.mit.edu	37	3	86115815	86115815	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:86115815G>A	uc003dql.3	+	10	1196	c.1196_splice	c.e10-1	p.G399_splice	CADM2_uc003dqj.3_Splice_Site_p.G397_splice|CADM2_uc003dqk.3_Splice_Site_p.G366_splice|CADM2_uc003dqm.2_Splice_Site_p.G289_splice|CADM2_uc021xay.1_Splice_Site_p.G249_splice|CADM2_uc021xaz.1_Splice_Site_p.G249_splice|CADM2_uc021xba.1_Splice_Site_p.G289_splice	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	397					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATATATGCAGGAACGTATTTA	0.373000														32			22		0	0	0.000375601	0	0
CFHR2	3080	broad.mit.edu	37	1	196928157	196928157	+	Nonsense_Mutation	SNP	C	T	T	rs41313888		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:196928157C>T	uc001gtq.1	+	4	837	c.760C>T	c.(760-762)Cga>Tga	p.R254*	CFHR2_uc001gtr.1_Nonsense_Mutation_p.R130*	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	254	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TCATTCATTTCGAGCAATGTG	0.323000														56			26		0	0	0.000878237	0	0
OR4D5	219875	broad.mit.edu	37	11	123810973	123810973	+	Missense_Mutation	SNP	C	T	T	rs138187932		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:123810973C>T	uc001pzk.1	+	0	650	c.650C>T	c.(649-651)tCg>tTg	p.S217L		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	217					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)		CTTCTGGGATCGTACACAGCA	0.517000														45			67		0	0	0.000781405	0	0
DOCK3	1795	broad.mit.edu	37	3	51297745	51297745	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:51297745C>T	uc011bds.2	+	22	2366	c.2343C>T	c.(2341-2343)ctC>ctT	p.L781L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	781						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGAAACACTCCTTTTTACTC	0.468000														17			7		0	0	0.000442599	0	0
CCIN	881	broad.mit.edu	37	9	36170052	36170052	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:36170052C>T	uc003zzb.4	+	0	664	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	185	BACK.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCGCCTGCTCCGTGATGAAAA	0.532000														12			24		0	0	0.00047179	0	0
DSCAML1	57453	broad.mit.edu	37	11	117651308	117651308	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:117651308G>A	uc001prh.1	-	1	446	c.444C>T	c.(442-444)tcC>tcT	p.S148S	DSCAML1_uc001pri.1_5'UTR	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	88	Ig-like C2-type 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGCGGAGGGGGAGAAGGGGT	0.622000														51			54		0	0	0.000781405	0	0
SLC24A4	123041	broad.mit.edu	37	14	92958550	92958550	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:92958550C>T	uc001yak.3	+	15	1705	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	SLC24A4_uc001yai.3_Missense_Mutation_p.S497F|SLC24A4_uc010twm.2_Missense_Mutation_p.S542F|SLC24A4_uc010auj.3_Missense_Mutation_p.S433F|SLC24A4_uc010twn.2_Missense_Mutation_p.S317F|SLC24A4_uc001yan.3_Missense_Mutation_p.S255F	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	561						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.H560D(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CTGGTCTATTCCGTGGTCCTG	0.512000														97			39		0	0	0.000509022	0	0
NAA25	80018	broad.mit.edu	37	12	112498129	112498129	+	Silent	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:112498129A>T	uc001ttm.3	-	12	1450	c.1392T>A	c.(1390-1392)tcT>tcA	p.S464S	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Silent_p.S436S|NAA25_uc009zwa.2_Silent_p.S464S	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	464						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AGTAATAGTCAGAAAATTGCA	0.348000														48			19		0	0	0.000586117	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552862	140552862	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140552862G>A	uc003lit.3	+	0	620	c.446G>A	c.(445-447)gGg>gAg	p.G149E		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	149	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCACTCCAGGGGCGGCATTT	0.438000														47			24		0	0	0.000375601	0	0
DUSP3	1845	broad.mit.edu	37	17	41847063	41847063	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:41847063G>A	uc002ied.4	-	2	548	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	DUSP3_uc021tya.1_Non-coding_Transcript|DUSP3_uc002iee.4_3'UTR	NM_004090	NP_004081	P51452	DUS3_HUMAN	Homo sapiens dual specificity phosphatase 3 (DUSP3), mRNA.	158	Tyrosine-protein phosphatase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		CCGATCTCACGGTTCTGCCTC	0.592000														33			11		0	0	0.00136819	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212306	26212306	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:26212306C>T	uc022buc.1	+	0	343	c.343C>T	c.(343-345)Cct>Tct	p.P115S	MAGEB6_uc004dbr.3_Missense_Mutation_p.P115S	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	115	Ser-rich.							p.S114S(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CACTGGCTCTCCTGATGCAGG	0.542000														58			30		0	0	0.000491102	0	0
TAMM41	132001	broad.mit.edu	37	3	11885596	11885596	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:11885596G>A	uc011auo.1	-	1	467	c.225C>T	c.(223-225)ttC>ttT	p.F75F	TAMM41_uc003bwh.3_Silent_p.F75F|TAMM41_uc003bwi.3_Non-coding_Transcript|TAMM41_uc011aup.1_Non-coding_Transcript|TAMM41_uc010hdy.1_Non-coding_Transcript	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	Homo sapiens TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae) (TAMM41), nuclear gene encoding mitochondrial protein, mRNA.	75					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane											AAACTTTTAGGAAAGAGTAGT	0.418000														9			15		0	0	0.000566183	0	0
ROR2	4920	broad.mit.edu	37	9	94488852	94488852	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:94488852C>T	uc004arj.2	-	7	1556	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	ROR2_uc004ari.1_Missense_Mutation_p.E313K|ROR2_uc004ark.3_3'UTR	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	453					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			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						AGGGGCATTTCCATGTCTTGG	0.537000														16			17		0	0	0.000229342	0	0
FAM83H	286077	broad.mit.edu	37	8	144810890	144810890	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:144810890G>A	uc003yzk.3	-	4	810	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	247					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGACCACATGAAGCTGTGGG	0.652000														21			10		0	0	0.000978159	0	0
TRPM4	54795	broad.mit.edu	37	19	49671865	49671865	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:49671865T>G	uc002pmw.3	+	5	776	c.668T>G	c.(667-669)tTt>tGt	p.F223C	TRPM4_uc010emu.3_Missense_Mutation_p.F223C|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Missense_Mutation_p.F49C|TRPM4_uc010emv.3_Missense_Mutation_p.F108C|TRPM4_uc010yal.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	223					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGGGTCCAGTTTCCCCTGGAC	0.662000														23			9		0	0	0.000673444	0	0
CACNA1C	775	broad.mit.edu	37	12	2706657	2706657	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:2706657C>T	uc009zdu.1	+	21	3221	c.2908C>T	c.(2908-2910)Ctt>Ttt	p.L970F	CACNA1C_uc001qkc.2_Missense_Mutation_p.L950F|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qke.2_Missense_Mutation_p.L950F|CACNA1C_uc001qkf.2_Missense_Mutation_p.L950F|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Missense_Mutation_p.L970F|CACNA1C_uc001qkj.2_Intron|CACNA1C_uc001qkk.2_Intron|CACNA1C_uc001qkn.2_Missense_Mutation_p.L950F|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Missense_Mutation_p.L970F|CACNA1C_uc001qkp.2_Missense_Mutation_p.L950F|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qku.2_Missense_Mutation_p.L950F|CACNA1C_uc001qkr.2_Missense_Mutation_p.L950F|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Missense_Mutation_p.L950F|CACNA1C_uc001qka.1_Missense_Mutation_p.L485F|CACNA1C_uc001qki.1_Intron	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	970					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)	AGAAATTATCCTTAAGGTAAT	0.403000														18			12		0	0	0.000219431	0	0
PTPRK	5796	broad.mit.edu	37	6	128400043	128400043	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:128400043C>T	uc003qbk.3	-	10	2165	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	PTPRK_uc010kfc.3_Missense_Mutation_p.E600K|PTPRK_uc003qbj.3_Missense_Mutation_p.E600K|PTPRK_uc011ebu.2_Missense_Mutation_p.E600K|PTPRK_uc003qbl.1_Missense_Mutation_p.E470K|PTPRK_uc011ebv.1_Missense_Mutation_p.E600K	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	600	Fibronectin type-III 4.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCAACTCCTTCATAGTCAGGT	0.383000														67			45		0	0	0.000781405	0	0
CDK19	23097	broad.mit.edu	37	6	110988704	110988704	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:110988704G>A	uc003puh.1	-	3	462	c.389C>T	c.(388-390)tCc>tTc	p.S130F	CDK19_uc003pui.1_Missense_Mutation_p.S70F	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	130	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GTAAAGTAAGGATTTAACCAT	0.308000														43			33		0	0	0.000953801	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202215474	202215474	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:202215474G>A	uc010ftg.3	-	2	589	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	ALS2CR12_uc002uya.4_Missense_Mutation_p.H49Y|ALS2CR12_uc010fth.3_Non-coding_Transcript	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.	49					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						AGGTAATTGTGATTTTTTGGA	0.378000														23			15		0	0	0.00121646	0	0
SLC26A9	115019	broad.mit.edu	37	1	205899142	205899142	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:205899142G>A	uc001hdp.3	-	5	709	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F	SLC26A9_uc001hdo.3_5'Flank|SLC26A9_uc001hdq.3_Missense_Mutation_p.L199F	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	199						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GACTCGGAGAGGTAGATGGCC	0.562000														30			8		0	0	0.000274275	0	0
CLDN16	10686	broad.mit.edu	37	3	190106098	190106098	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:190106098C>T	uc003fsi.3	+	0	438	c.190C>T	c.(190-192)Cct>Tct	p.P64S	CLDN16_uc010hze.3_Missense_Mutation_p.P64S	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Homo sapiens claudin 16 (CLDN16), mRNA.	64					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		ATGTTGCCATCCTGATGGGCT	0.498000														36			13		0	0	0.00136819	0	0
DBX2	440097	broad.mit.edu	37	12	45429804	45429804	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:45429804G>A	uc001rok.1	-	1	669	c.497C>T	c.(496-498)cCa>cTa	p.P166L		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	166						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		aaacttacttggaaaagcagt	0.493000														18			9		0	0	0.000978159	0	0
OR2L1P	26247	broad.mit.edu	37	1	248154185	248154185	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:248154185C>T	uc001idv.1	+	0	617	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						CACCATTTTTCTTGTGTTTCC	0.468000														59			18		0	0	0.00074312	0	0
GPR98	84059	broad.mit.edu	37	5	89949088	89949088	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:89949088C>T	uc003kju.3	+	19	3793	c.3697C>T	c.(3697-3699)Cca>Tca	p.P1233S	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1233					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTAATGGTTCCATTCAATGA	0.423000														28			12		0	0	0.000978159	0	0
PTPN7	5778	broad.mit.edu	37	1	202121710	202121710	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:202121710C>T	uc001gxn.2	-	7	1931	c.835G>A	c.(835-837)Gag>Aag	p.E279K	PTPN7_uc001gxl.2_Missense_Mutation_p.E318K|PTPN7_uc001gxm.2_Missense_Mutation_p.E384K|PTPN7_uc010ppx.2_Missense_Mutation_p.E353K|PTPN7_uc010ppw.2_Missense_Mutation_p.E227K|PTPN7_uc010ppy.2_Non-coding_Transcript|PTPN7_uc001gxo.1_Missense_Mutation_p.E231K	NM_002832	NP_002823	P35236	PTN7_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA.	279	Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GCGGCTGTCTCCGGGCTCTCC	0.657000														16			8		0	0	0.000274275	0	0
C9orf96	169436	broad.mit.edu	37	9	136259421	136259421	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:136259421C>T	uc004cdk.3	+	7	648	c.587C>T	c.(586-588)cCc>cTc	p.P196L	C9orf96_uc004cdl.3_Non-coding_Transcript	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	196	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCAACAGACCCCTTTCGTAAG	0.567000														27			31		0	0	0.00178596	0	0
SFTPD	6441	broad.mit.edu	37	10	81701826	81701826	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:81701826C>T	uc001kbh.3	-	5	477	c.434_splice	c.e5-1	p.G145_splice		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	145	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			ACCTACTTCTCCTGAAGAAGG	0.577000														17			22		0	0	0.000586117	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101572119	101572119	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:101572119C>T	uc003dvp.3	+	4	864	c.749C>T	c.(748-750)cCc>cTc	p.P250L	NFKBIZ_uc003dvo.3_Missense_Mutation_p.P150L|NFKBIZ_uc010hpo.3_Missense_Mutation_p.P150L|NFKBIZ_uc003dvq.3_Intron	NM_031419	NP_001005474	Q9BYH8	IKBZ_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAGAGCTCCCCCGCAGAGCAG	0.517000														40			25		0	0	0.00047179	0	0
HAND1	9421	broad.mit.edu	37	5	153855395	153855395	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:153855395G>A	uc003lvn.3	-	1	875	c.619C>T	c.(619-621)Caa>Taa	p.Q207*		NM_004821	NP_004812	O96004	HAND1_HUMAN	Homo sapiens heart and neural crest derivatives expressed 1 (HAND1), mRNA.	207					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	DNA binding|bHLH transcription factor binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCCCAGACTTGCTGCGGCCAG	0.637000														26			14		0	0	0.000566183	0	0
XAB2	56949	broad.mit.edu	37	19	7692252	7692252	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:7692252G>A	uc002mgx.3	-	3	425	c.399C>T	c.(397-399)ttC>ttT	p.F133F	C19orf79_uc021unv.1_5'Flank|C19orf79_uc010dvi.2_5'Flank	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	133					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GGGCACGGTCGAAGGTGCGGC	0.647000								Direct reversal of damage;Nucleotide excision repair (NER)						9			10		0	0	0.000673444	0	0
EFTUD2	9343	broad.mit.edu	37	17	42934475	42934475	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:42934475G>A	uc002ihn.2	-	19	2274	c.2013C>T	c.(2011-2013)tcC>tcT	p.S671S	EFTUD2_uc010wje.1_Silent_p.S636S|EFTUD2_uc010wjf.1_Silent_p.S661S	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	671						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AGCACTTGAGGGAGGATGTTT	0.488000														44			36		0	0	0.000437636	0	0
LIPF	8513	broad.mit.edu	37	10	90438385	90438385	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:90438385C>T	uc001kfg.2	+	9	1258	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S	LIPF_uc001kfh.2_Missense_Mutation_p.P359S|LIPF_uc010qmt.2_Missense_Mutation_p.P392S|LIPF_uc010qmu.2_Missense_Mutation_p.P349S	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	382					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	p.P382H(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		AATGGATGCCCCTCAAGAAGT	0.343000														19			32		0	0	0.000339439	0	0
DNAH11	8701	broad.mit.edu	37	7	21630843	21630843	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:21630843A>T	uc003svc.3	+	13	2346	c.2315A>T	c.(2314-2316)aAa>aTa	p.K772I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	772	Stem (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						GGGTATAATAAACTCAAACAG	0.433000									Kartagener syndrome					28			44		0	0	0.000437636	0	0
ZNF473	25888	broad.mit.edu	37	19	50550097	50550097	+	Silent	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:50550097A>G	uc002prn.3	+	4	2634	c.2397A>G	c.(2395-2397)gcA>gcG	p.A799A	ZNF473_uc002prm.3_Silent_p.A799A|ZNF473_uc010ybo.2_Silent_p.A787A	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	799					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CCCAGAAAGCAAATCTAACAC	0.507000											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			13		0	0	0.000151284	0	0
GMIP	51291	broad.mit.edu	37	19	19744700	19744700	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:19744700G>A	uc002nnd.3	-	18	2501	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	GMIP_uc010xrb.2_Missense_Mutation_p.S769F|GMIP_uc010xrc.2_Missense_Mutation_p.S766F	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	795	Pro-rich.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						tgggggctgggagtctgggtc	0.697000														9			5		0	0	0.000602214	0	0
TCEAL3	85012	broad.mit.edu	37	X	102864578	102864578	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:102864578G>A	uc022cbu.1	+	0	586	c.586G>A	c.(586-588)Gat>Aat	p.D196N	TCEAL3_uc004ekq.3_Missense_Mutation_p.D196N|TCEAL3_uc004ekr.3_Missense_Mutation_p.D196N	NM_032926	NP_116315	Q969E4	TCAL3_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 3 (TCEAL3), transcript variant 2, mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						GGGCTTACACGATATCCCATA	0.527000														53			26		0	0	0.00127121	0	0
PTCH1	5727	broad.mit.edu	37	9	98231211	98231211	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:98231211G>A	uc004avk.4	-	13	2260	c.2072C>T	c.(2071-2073)aCc>aTc	p.T691I	PTCH1_uc010mro.3_Missense_Mutation_p.T540I|PTCH1_uc010mrp.3_Missense_Mutation_p.T540I|PTCH1_uc010mrq.3_Missense_Mutation_p.T540I|PTCH1_uc004avl.4_Missense_Mutation_p.T540I|PTCH1_uc004avm.4_Missense_Mutation_p.T690I|PTCH1_uc010mrr.3_Missense_Mutation_p.T625I|LOC100507346_uc022bkm.1_Non-coding_Transcript|PTCH1_uc010mrs.1_Missense_Mutation_p.T359I	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	691					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.T691I(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTGTGTCACGGTGACGGGCTG	0.642000														11			17		0	0	0.000566183	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68251080	68251080	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:68251080G>A	uc001xka.2	-	19	3736	c.3597C>T	c.(3595-3597)ctC>ctT	p.L1199L	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Silent_p.L1199L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1199					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTCAAACAGGAGATGTGACA	0.488000														133			71		0	0	0.000781405	0	0
ZNF254	9534	broad.mit.edu	37	19	24310482	24310482	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:24310482C>T	uc002nru.3	+	3	1814	c.1680C>T	c.(1678-1680)atC>atT	p.I560I	ZNF254_uc010xrk.2_Silent_p.I475I	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	560					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGTCTTCAATCCTTACTAACC	0.343000														20			10		0	0	0.000673444	0	0
LIPI	149998	broad.mit.edu	37	21	15561499	15561499	+	Silent	SNP	G	A	A	rs148528170	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:15561499G>A	uc002yjm.3	-	1	361	c.351C>T	c.(349-351)ttC>ttT	p.F117F	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Silent_p.F96F|LIPI_uc021whh.1_Silent_p.F96F|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Silent_p.F96F|LIPI_uc021whe.1_Silent_p.F96F|LIPI_uc021whf.1_Silent_p.F96F	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	96					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.F117F(2)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AAATCCTTACGAAGTTCTGAA	0.368000														50			26		0	0	0.00127121	0	0
KIAA1586	57691	broad.mit.edu	37	6	56919312	56919312	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:56919312G>A	uc003pdj.3	+	3	2185	c.2015G>A	c.(2014-2016)cGg>cAg	p.R672Q	KIAA1586_uc011dxm.2_Missense_Mutation_p.R645Q	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	Homo sapiens KIAA1586 (KIAA1586), mRNA.	672							nucleic acid binding	p.R672L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AATGATTTTCGGGAATTTGTA	0.269000														27			9		0	0	0.000274275	0	0
TAF9B	51616	broad.mit.edu	37	X	77393565	77393565	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:77393565T>A	uc004eda.3	-	2	235	c.164A>T	c.(163-165)aAa>aTa	p.K55I		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	Homo sapiens TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa (TAF9B), mRNA.	55					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						CGAATAAATTTTTGCATCATC	0.368000														101			63		0	0	0.000781405	0	0
PSG11	5680	broad.mit.edu	37	19	43522979	43522979	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:43522979C>T	uc002ovm.1	-	2	759	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.E96K|PSG11_uc002ovo.1_Missense_Mutation_p.E96K	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	218	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TTCCATATTTCACATTCATAG	0.507000														181			89		0	0	0.000781405	0	0
MIA2	117153	broad.mit.edu	37	14	39717188	39717188	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:39717188C>T	uc001wux.3	+	3	1604	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	MIA2_uc010amy.2_Silent_p.F401F	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	470						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		CTTGGAACTTCCAGAACATTC	0.318000														65			43		0	0	0.000781405	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140774627	140774627	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140774627C>T	uc003lkd.2	+	0	3145	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.F749F|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	748					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAGGCTTTCCTGCAGACCT	0.582000														23			34		0	0	0.000339439	0	0
TNKS	8658	broad.mit.edu	37	8	9588486	9588486	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:9588486C>T	uc003wss.3	+	13	2093	c.2088C>T	c.(2086-2088)cgC>cgT	p.R696R	TNKS_uc011kww.2_Silent_p.R459R|TNKS_uc010lrs.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	696					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.R696S(1)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GCTACAACCGCGTGTCTGTTG	0.507000														14			22		0	0	0.00047179	0	0
POSTN	10631	broad.mit.edu	37	13	38144728	38144728	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:38144728C>T	uc001uwo.4	-	18	2376	c.2258G>A	c.(2257-2259)cGa>cAa	p.R753Q	POSTN_uc010tet.2_Missense_Mutation_p.R254Q|POSTN_uc001uwp.4_Missense_Mutation_p.R696Q|POSTN_uc001uwr.3_Missense_Mutation_p.R726Q|POSTN_uc001uwq.3_Missense_Mutation_p.R696Q|POSTN_uc010teu.1_Missense_Mutation_p.R726Q|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	753					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.R753R(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGTAATGATTCGTTCTTCTCG	0.318000														40			23		0	0	0.000720815	0	0
FAM53A	152877	broad.mit.edu	37	4	1656818	1656818	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:1656818G>A	uc021xkk.1	-	3	967	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	FAM53A_uc010ibw.3_Missense_Mutation_p.R257W|FAM53A_uc021xkl.1_Missense_Mutation_p.R257W	NM_001013622	NP_001167541	Q6NSI3	FA53A_HUMAN	Homo sapiens family with sequence similarity 53, member A (FAM53A), transcript variant 1, mRNA.	257						nucleus		p.R257L(1)		breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			GAGCGGCACCGGAGCAGCCCA	0.716000														10			13		0	0	0.00136819	0	0
MST1P2	11209	broad.mit.edu	37	1	16976657	16976657	+	RNA	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:16976657C>T	uc010och.2	+	13		c.2378C>T			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TGCGCAAGGTCGCGCTGGCCA	0.572000														76			7		0	0	8.12818e-05	0	0
EIF2C1	26523	broad.mit.edu	37	1	36359681	36359681	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:36359681C>T	uc001bzl.3	+	5	906	c.693C>T	c.(691-693)ttC>ttT	p.F231F	EIF2C1_uc001bzk.3_Silent_p.F156F|EIF2C1_uc009vuy.3_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	231	PAZ.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGATTGAGTTCATGTGTGAGG	0.527000														44			29		0	0	0.000409698	0	0
EDAR	10913	broad.mit.edu	37	2	109546615	109546615	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:109546615C>T	uc010fjn.3	-	3	682	c.135G>A	c.(133-135)caG>caA	p.Q45Q	EDAR_uc010yws.2_Silent_p.Q45Q|EDAR_uc002teq.4_Silent_p.Q45Q	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	45					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GGGGGCACTCCTGGCACAGCC	0.637000														16			6		0	0	0.000157383	0	0
ABP1	26	broad.mit.edu	37	7	150558262	150558263	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:150558262_150558263CC>TT	uc003why.1	+	5	6439_6440	c.2221_2222CC>TT	c.(2221-2223)cct>TTt	p.P741F	ABP1_uc003whz.1_Missense_Mutation_p.P741F|ABP1_uc003wia.1_Missense_Mutation_p.P760F	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	741					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GATGCCTCCCCCTTTTAGCTAC	0.604000														26			10		0	0	6.4e-05	0	0
B3GALTL	145173	broad.mit.edu	37	13	31903644	31903644	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:31903644C>T	uc010aaz.3	+	14	1446	c.1336C>T	c.(1336-1338)Ccg>Tcg	p.P446S	B3GALTL_uc001utn.4_Non-coding_Transcript|B3GALTL_uc001uto.4_Missense_Mutation_p.P51S	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.	446					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		GCAGGCTCGGCCGGTGGATTA	0.418000														57			40		0	0	0.000589545	0	0
PHKA1	5255	broad.mit.edu	37	X	71840728	71840728	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:71840728G>A	uc004eax.4	-	18	2285	c.1984C>T	c.(1984-1986)Cgt>Tgt	p.R662C	PHKA1_uc004eay.4_Missense_Mutation_p.R662C|PHKA1_uc011mqi.2_Intron	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	662					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TCTAAATAACGAGCAACTTCA	0.483000														38			11		0	0	0.000151284	0	0
ZNF573	126231	broad.mit.edu	37	19	38229711	38229711	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:38229711C>T	uc002ohe.3	-	4	1749	c.1680G>A	c.(1678-1680)ggG>ggA	p.G560G	ZNF573_uc010efs.2_Silent_p.G473G|ZNF573_uc002ohd.3_Silent_p.G558G|ZNF573_uc002ohf.3_Silent_p.G502G|ZNF573_uc002ohg.3_Silent_p.G472G|ZNF573_uc021utv.1_Silent_p.G472G	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	540					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)			TAAAGGTCTTCCCACATTCCT	0.338000														32			30		0	0	0.000409698	0	0
MUC16	94025	broad.mit.edu	37	19	9027568	9027568	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9027568G>A	uc002mkp.3	-	11	36780	c.36576C>T	c.(36574-36576)acC>acT	p.T12192T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12194					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						AGCTTCGATGGGTGAAACCTG	0.537000														25			25		0	0	0.000878237	0	0
CASS4	57091	broad.mit.edu	37	20	55026928	55026928	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:55026928C>T	uc002xxp.2	+	5	921	c.696C>T	c.(694-696)agC>agT	p.S232S	CASS4_uc002xxq.4_Silent_p.S232S|CASS4_uc010zze.1_Silent_p.S178S|CASS4_uc002xxr.2_Silent_p.S232S|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	232					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCGGTTACAGCACATTACCAA	0.502000														27			15		0	0	0.000219431	0	0
PRSS54	221191	broad.mit.edu	37	16	58319856	58319856	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:58319856C>T	uc002enf.3	-	4	902	c.507G>A	c.(505-507)tgG>tgA	p.W169*	PRSS54_uc002eng.3_Nonsense_Mutation_p.W169*|PRSS54_uc010vie.2_Nonsense_Mutation_p.W70*	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	169	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGTGGGATTCCATCCTGACA	0.537000														33			23		0	0	0.000586117	0	0
IL13RA2	3598	broad.mit.edu	37	X	114242621	114242621	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:114242621C>T	uc004epx.3	-	7	996	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	IL13RA2_uc010nqd.1_Missense_Mutation_p.E291K	NM_000640	NP_000631	Q14627	I13R2_HUMAN	Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.	291	Fibronectin type-III 3.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GTGTATGTTTCATTTTCAACT	0.363000														55			32		0	0	0.000409698	0	0
BLM	641	broad.mit.edu	37	15	91333908	91333909	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:91333908_91333909GG>TT	uc002bpr.3	+	14	2950_2951	c.2853_2854GG>TT	c.(2851-2856)atgggg>atTTgg	p.951_952MG>IW	BLM_uc010uqh.2_Missense_Mutation_p.951_952MG>IW|BLM_uc010uqi.2_Missense_Mutation_p.576_577MG>IW|BLM_uc010bnx.3_Missense_Mutation_p.951_952MG>IW	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	951	Helicase C-terminal.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CATTTGGAATGGGGATTGACAA	0.411000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					428			10		0	0	6.4e-05	0	0
TRAF2	7186	broad.mit.edu	37	9	139815663	139815663	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:139815663C>T	uc004cjv.3	+	8	1191	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	TRAF2_uc010nbu.3_Silent_p.S378S|TRAF2_uc011mek.2_Silent_p.S367S|TRAF2_uc010nbw.3_Silent_p.S353S	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA.	378	MATH.				activation of NF-kappaB-inducing kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|protein K63-linked ubiquitination|protein autoubiquitination|protein homotrimerization|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CCATCTTCTCCCCAGGTGTGG	0.602000														6			12		0	0	0.000219431	0	0
PKD1L1	168507	broad.mit.edu	37	7	47894550	47894550	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:47894550C>T	uc003tny.2	-	29	4823	c.4789G>A	c.(4789-4791)Gaa>Aaa	p.E1597K		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1597					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						TGTAGAGATTCCTGGGGGTTT	0.393000														78			33		0	0	0.000491102	0	0
GAB3	139716	broad.mit.edu	37	X	153908454	153908454	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:153908454A>T	uc004fmk.1	-	8	1650	c.1602T>A	c.(1600-1602)taT>taA	p.Y534*	GAB3_uc004fmj.1_Nonsense_Mutation_p.Y533*|GAB3_uc010nve.1_Intron|GAB3_uc004fml.1_Nonsense_Mutation_p.Y153*	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	533										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)					CCAGGGCCAAATAATCTAGGC	0.512000														139			72		0	0	0.000781405	0	0
CXXC11	285093	broad.mit.edu	37	2	242814229	242814229	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:242814229G>A	uc010fzu.1	+	1	545	c.522G>A	c.(520-522)acG>acA	p.T174T		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	174						integral to membrane											TCCCCGCCACGGCCTGGGGTG	0.677000														7			8		0	0	0.000978159	0	0
TDP1	55775	broad.mit.edu	37	14	90509426	90509426	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:90509426T>G	uc001xxy.3	+	16	2065	c.1766T>G	c.(1765-1767)aTa>aGa	p.I589R	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Missense_Mutation_p.I589R|TDP1_uc010atn.3_3'UTR|TDP1_uc001xya.3_Missense_Mutation_p.I350R|TDP1_uc001xyb.3_Non-coding_Transcript	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	589					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CGGCCATGGATATGGAACATT	0.413000								Repair of DNA-protein crosslinks						54			36		0	0	0.00111076	0	0
C5orf54	63920	broad.mit.edu	37	5	159822450	159822450	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:159822450G>A	uc003lye.1	-	1	512	c.48C>T	c.(46-48)ttC>ttT	p.F16F	C5orf54_uc003lyf.1_Silent_p.F16F|C5orf54_uc021yhc.1_Silent_p.F16F	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	Homo sapiens chromosome 5 open reading frame 54 (C5orf54), mRNA.	16										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ttgtacaggtgaaccagtagc	0.433000														79			29		0	0	0.001512	0	0
MIB2	142678	broad.mit.edu	37	1	1565078	1565078	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:1565078C>T	uc001agg.3	+	18	3013	c.2968C>T	c.(2968-2970)Cgc>Tgc	p.R990C	MIB2_uc001agh.3_Missense_Mutation_p.R976C|MIB2_uc001agi.3_Missense_Mutation_p.R986C|MIB2_uc001agj.3_Missense_Mutation_p.R774C|MIB2_uc001agk.3_Missense_Mutation_p.R925C|MIB2_uc001agm.3_Missense_Mutation_p.A749V|MIB2_uc010nyq.2_Missense_Mutation_p.R889C|MIB2_uc009vkh.3_Missense_Mutation_p.R739C|MIB2_uc001agn.3_Missense_Mutation_p.R565C|MIB2_uc001ago.3_Missense_Mutation_p.R16C|MMP23B_uc001agp.3_5'Flank|MMP23B_uc001agq.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	933					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAAGAAACTGCGCCCAGGTGG	0.682000														8			6		0	0	0.000157383	0	0
SLC9A1	6548	broad.mit.edu	37	1	27434230	27434230	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:27434230G>A	uc001bnm.3	-	3	1817	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	SLC9A1_uc010ofk.2_Silent_p.F58F|SLC9A1_uc001bnn.2_Silent_p.F397F	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	397					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AGACGCCGAGGAAGATGAAGA	0.607000														9			6		0	0	0.000157383	0	0
CACNA1F	778	broad.mit.edu	37	X	49081431	49081431	+	Silent	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:49081431A>G	uc004dnb.3	-	13	1764	c.1702T>C	c.(1702-1704)Ttg>Ctg	p.L568L	CACNA1F_uc010nip.3_Silent_p.L557L	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	568					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	AGACAGAGCAACACTTTGTTG	0.537000														6			4		0	0	0.000602214	0	0
MLL	4297	broad.mit.edu	37	11	118375900	118375900	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:118375900C>T	uc001pta.3	+	26	9307	c.9284C>T	c.(9283-9285)cCa>cTa	p.P3095L	MLL_uc001ptb.3_Missense_Mutation_p.P3098L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3095					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	p.P3095Q(2)		breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAAACTCTTCCAAATGGAGTG	0.473000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									23			45		0	0	0.000781405	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23391174	23391174	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:23391174C>G	uc003swg.3	-	5	699	c.433G>C	c.(433-435)Gag>Cag	p.E145Q		NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	145	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GTGAAATTCTCTAACTGAAAT	0.502000														39			33		0	0	0.00058488	0	0
KRT76	51350	broad.mit.edu	37	12	53166662	53166662	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:53166662C>T	uc001sax.3	-	4	931	c.877_splice	c.e4-1	p.D293_splice		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	293	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCATCCACATCCTGCAGAGGA	0.552000														39			24		0	0	0.000375601	0	0
ARHGAP6	395	broad.mit.edu	37	X	11160413	11160413	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:11160413C>T	uc004cup.1	-	11	3070	c.2197G>A	c.(2197-2199)Gat>Aat	p.D733N	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cum.1_Missense_Mutation_p.D530N|ARHGAP6_uc004cun.1_Missense_Mutation_p.D553N	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	733					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCCAGATATCGAAAGGCTCC	0.313000														85			40		0	0	0.000781405	0	0
ILDR1	286676	broad.mit.edu	37	3	121712403	121712403	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:121712403G>A	uc003ees.3	-	6	1396	c.1193C>T	c.(1192-1194)tCg>tTg	p.S398L	ILDR1_uc003eeq.3_Missense_Mutation_p.S366L|ILDR1_uc003eer.3_Missense_Mutation_p.S354L|ILDR1_uc010hrg.3_Missense_Mutation_p.S309L	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	398						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCCACTCCACGATGGGTCCAA	0.587000														26			17		0	0	0.000422831	0	0
CACNA1A	773	broad.mit.edu	37	19	13423587	13423587	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:13423587C>T	uc002mwy.3	-	11	1800	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	CACNA1A_uc010dzc.2_Missense_Mutation_p.E48K|CACNA1A_uc010xnd.2_Missense_Mutation_p.E522K|CACNA1A_uc021ups.1_Missense_Mutation_p.E522K|CACNA1A_uc010xne.2_Missense_Mutation_p.E522K|CACNA1A_uc010dze.2_Missense_Mutation_p.E522K|CACNA1A_uc021upt.1_Missense_Mutation_p.E523K	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	523					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AAAATGAATTCTGCATAGTCT	0.438000														37			9		0	0	0.000274275	0	0
CADM3	57863	broad.mit.edu	37	1	159166699	159166699	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:159166699G>A	uc001ftl.2	+	6	980	c.801G>A	c.(799-801)tgG>tgA	p.W267*	CADM3_uc009wsy.1_Nonsense_Mutation_p.W221*|CADM3_uc001ftk.2_Nonsense_Mutation_p.W301*|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	267	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGTACCTATGGGAGAAGGAGG	0.537000														48			19		0	0	0.000958276	0	0
TDG	6996	broad.mit.edu	37	12	104376924	104376924	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:104376924C>T	uc001tkg.3	+	5	848	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C	TDG_uc009zuk.3_Missense_Mutation_p.R205C|TDG_uc010swi.2_Missense_Mutation_p.R66C|TDG_uc010swj.2_Intron	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	209					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TAAAGAATTTCGTGAAGGAGG	0.249000								Base excision repair (BER), DNA glycosylases						126			80		0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82584970	82584970	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:82584970A>C	uc003uhx.2	-	4	5588	c.5299T>G	c.(5299-5301)Ttg>Gtg	p.L1767V	PCLO_uc003uhv.2_Missense_Mutation_p.L1767V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1698					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						ATAGTAGGCAAAAGAGGGCCA	0.433000														167			48		0	0	0.000781405	0	0
SEMA4C	54910	broad.mit.edu	37	2	97530946	97530946	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:97530946A>G	uc002sxg.4	-	4	1019	c.788T>C	c.(787-789)cTc>cCc	p.L263P	SEMA4C_uc002sxf.4_5'Flank|SEMA4C_uc002sxe.3_5'Flank|SEMA4C_uc002sxh.4_Missense_Mutation_p.L210P	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	210	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CTCACCGTTGAGCCAAAAGGC	0.637000														13			8		0	0	0.000157383	0	0
PFAS	5198	broad.mit.edu	37	17	8169316	8169316	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:8169316C>T	uc002gkr.3	+	20	2823	c.2682C>T	c.(2680-2682)atC>atT	p.I894I	PFAS_uc010vuv.2_Silent_p.I470I|PFAS_uc002gks.3_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	894					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTTCAGCATCACTCAGGGGC	0.627000														22			18		0	0	0.00074312	0	0
CYP2E1	1571	broad.mit.edu	37	10	135350654	135350654	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:135350654C>T	uc001lnj.1	+	6	1088	c.1055C>T	c.(1054-1056)gCt>gTt	p.A352V	CYP2E1_uc001lnk.1_Missense_Mutation_p.A215V|CYP2E1_uc009ybl.1_Missense_Mutation_p.A153V|CYP2E1_uc009ybm.1_Missense_Mutation_p.A6V|CYP2E1_uc001lnl.1_Missense_Mutation_p.A153V	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	352					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TACATGGATGCTGTGGTGCAT	0.527000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					24			19		0	0	0.000958276	0	0
KIN	22944	broad.mit.edu	37	10	7817756	7817756	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:7817756G>A	uc001ijt.3	-	5	659	c.565C>T	c.(565-567)Cct>Tct	p.P189S	KIN_uc010qaz.2_Non-coding_Transcript|KIN_uc010qba.2_Missense_Mutation_p.P83S	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	189					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GTAAAAGTAGGGACCTCCTAA	0.313000														7			12		0	0	0.000978159	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685854	108685854	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:108685854G>A	uc009zuw.3	-	2	1077	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L	CMKLR1_uc001tmw.3_Silent_p.L296L|CMKLR1_uc001tmv.3_Silent_p.L294L|CMKLR1_uc009zuv.3_Silent_p.L296L|CMKLR1_uc021rdj.1_Silent_p.L294L	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	296					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.G295G(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GGCAAACCCAGGCTGAAGACA	0.542000														28			16		0	0	0.000422831	0	0
PCSK1	5122	broad.mit.edu	37	5	95761620	95761620	+	Silent	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:95761620T>C	uc003kls.2	-	2	539	c.300A>G	c.(298-300)gaA>gaG	p.E100E	PCSK1_uc021ybq.1_Silent_p.E53E	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	100					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)	CATACTGTTGTTCAGCCCATA	0.378000														23			17		0	0	0.000229342	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110451187	110451187	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:110451187G>A	uc003yne.3	+	31	3926	c.3822G>A	c.(3820-3822)gcG>gcA	p.A1274A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1274	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.A1276A(1)		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)			AAAACATGGCGGTGTATGTTG	0.338000										HNSCC(38;0.096)				35			30		0	0	0.00106085	0	0
C9orf84	158401	broad.mit.edu	37	9	114508622	114508622	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:114508622C>T	uc004bfr.3	-	8	914	c.779_splice	c.e8-1	p.G260_splice	C9orf84_uc011lwt.2_Splice_Site|C9orf84_uc004bfs.1_Splice_Site_p.G324_splice|C9orf84_uc004bfq.3_Splice_Site_p.G221_splice|C9orf84_uc010mug.3_Splice_Site_p.G206_splice	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	260										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTCTAACTCTCCTGGAATATA	0.373000														12			21		0	0	0.00121646	0	0
GABRG2	2566	broad.mit.edu	37	5	161580099	161580099	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:161580099G>A	uc010jjc.3	+	11	1631	c.1273_splice	c.e11-1	p.A425_splice	GABRG2_uc003lyy.4_Splice_Site_p.A385_splice|GABRG2_uc003lyz.4_Splice_Site_p.A377_splice|GABRG2_uc011dej.2_Splice_Site_p.A282_splice	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	377	Interaction with GABARAP (Potential).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTCGTCCCAGGCCCCTACCAT	0.458000														38			18		0	0	0.000958276	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762228	130762228	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:130762228C>T	uc003qcb.3	+	1	3039	c.661C>T	c.(661-663)Cga>Tga	p.R221*	TMEM200A_uc003qca.3_Nonsense_Mutation_p.R221*|TMEM200A_uc010kfh.3_Nonsense_Mutation_p.R221*|TMEM200A_uc010kfi.3_Nonsense_Mutation_p.R221*|TMEM200A_uc021zfg.1_Nonsense_Mutation_p.R221*	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	221						integral to membrane				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)		GAGCAGTTTTCGAATGGACAG	0.478000														33			16		0	0	0.000422831	0	0
TMC3	342125	broad.mit.edu	37	15	81650587	81650587	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:81650587C>T	uc021ssk.1	-	6	646	c.646G>A	c.(646-648)Gag>Aag	p.E216K	TMC3_uc021ssj.1_Missense_Mutation_p.E216K|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.E216K	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	216						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATCTTCCTCTCCCTGCCGTAA	0.493000														47			31		0	0	0.000953801	0	0
EFTUD2	9343	broad.mit.edu	37	17	42936451	42936451	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:42936451G>A	uc002ihn.2	-	18	2220	c.1959C>T	c.(1957-1959)atC>atT	p.I653I	EFTUD2_uc010wje.1_Silent_p.I618I|EFTUD2_uc010wjf.1_Silent_p.I643I	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	653						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GCTGTACCTTGATGTCTATCT	0.522000														40			22		0	0	0.000375601	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499429	34499429	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:34499429G>A	uc003ojo.3	+	8	1348	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	PACSIN1_uc003ojp.3_Missense_Mutation_p.E364K	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	364					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GTCAGACGACGAGAGTGGGAA	0.622000														85			41		0	0	0.000781405	0	0
ACSS1	84532	broad.mit.edu	37	20	25000673	25000673	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:25000673G>A	uc002wub.3	-	6	1299	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	ACSS1_uc002wuc.3_Missense_Mutation_p.R407C|ACSS1_uc021wbm.1_Missense_Mutation_p.R407C|ACSS1_uc010gdc.3_Intron|ACSS1_uc002wua.3_Missense_Mutation_p.R324C|ACSS1_uc021wbl.1_Missense_Mutation_p.R286C|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	407					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGGAGGAGCGATCATACTTC	0.587000														52			29		0	0	0.001512	0	0
CCDC42	146849	broad.mit.edu	37	17	8644940	8644940	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:8644940C>T	uc002gln.3	-	3	571	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	CCDC42_uc002glo.3_Missense_Mutation_p.R115Q	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	115										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CTTGAGTTCTCGCTCCTTGTT	0.652000														21			15		0	0	0.000422831	0	0
GABRB2	2561	broad.mit.edu	37	5	160721128	160721128	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:160721128G>A	uc003lys.1	-	10	1717	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F	GABRB2_uc011deh.1_Missense_Mutation_p.S301F|GABRB2_uc003lyr.1_Missense_Mutation_p.S462F|GABRB2_uc003lyt.1_Missense_Mutation_p.S462F	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	500					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			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)	GTTGAAGAAGGAAAAAACCAC	0.473000														22			20		0	0	0.000229342	0	0
PCLO	27445	broad.mit.edu	37	7	82785303	82785303	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:82785303C>T	uc003uhx.2	-	1	943	c.654G>A	c.(652-654)ccG>ccA	p.P218P	PCLO_uc003uhv.2_Silent_p.P218P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	218	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P218P(2)		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						GCTTAGGAATCGGCTTGGGTG	0.448000														15			26		0	0	0.00106085	0	0
RCOR1	23186	broad.mit.edu	37	14	103173840	103173840	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:103173840C>T	uc001ymb.3	+	4	879	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	Homo sapiens REST corepressor 1 (RCOR1), mRNA.	214	Interaction with HDAC1.|SANT 1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|protein binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						TTCATAGAATCCAACAAATGG	0.368000														63			29		0	0	0.001512	0	0
XIRP2	129446	broad.mit.edu	37	2	167759998	167759998	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:167759998C>T	uc002udx.3	+	1	95	c.6C>T	c.(4-6)ttC>ttT	p.F2F	XIRP2_uc010fpn.3_Silent_p.F2F|XIRP2_uc010fpo.3_Silent_p.F2F	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	0					actin cytoskeleton organization	cell junction	actin binding	p.F2V(1)		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						CATCCATGTTCCCAATGCAGA	0.448000														35			20		0	0	0.00047179	0	0
EPB41L2	2037	broad.mit.edu	37	6	131277475	131277475	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:131277475G>A	uc003qch.2	-	1	333	c.151C>T	c.(151-153)Cct>Tct	p.P51S	EPB41L2_uc010kfl.2_Missense_Mutation_p.P51S|EPB41L2_uc003qcg.1_Missense_Mutation_p.P51S|EPB41L2_uc003qci.3_Missense_Mutation_p.P51S|EPB41L2_uc011eby.2_Missense_Mutation_p.P51S|EPB41L2_uc010kfk.2_Missense_Mutation_p.P51S	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	51					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCAGCTGCAGGAGGTGGCTGG	0.483000														59			39		0	0	0.00128727	0	0
AP1M1	8907	broad.mit.edu	37	19	16338374	16338374	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:16338374C>T	uc002ndv.2	+	7	898	c.725C>T	c.(724-726)tCc>tTc	p.S242F	AP1M1_uc002ndu.2_Missense_Mutation_p.S230F|AP1M1_uc010xpd.1_Missense_Mutation_p.S230F	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	230	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						AAAAGCAAATCCGTGGAGCTG	0.602000														47			26		0	0	0.001512	0	0
CHST9	83539	broad.mit.edu	37	18	24496402	24496402	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:24496402C>T	uc002kwd.3	-	4	1382	c.1153G>A	c.(1153-1155)Ggt>Agt	p.G385S	CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Missense_Mutation_p.G385S|CHST9_uc021uij.1_Missense_Mutation_p.G300S	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	385					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.G385C(2)|p.G300C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTTGGAGCACCGATCATCTGT	0.398000														68			43		0	0	0.00170553	0	0
BICD1	636	broad.mit.edu	37	12	32481244	32481244	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:32481244C>T	uc001rku.3	+	4	1936	c.1855C>T	c.(1855-1857)Cgc>Tgc	p.R619C	BICD1_uc001rkv.3_Missense_Mutation_p.R619C|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	619					RNA processing|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|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor 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)			AAGTGACATCCGCAAAGAGCC	0.483000														77			54		0	0	0.000781405	0	0
CASK	8573	broad.mit.edu	37	X	41782287	41782287	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:41782287G>A	uc004dfl.4	-	1	1	c.-45_splice	c.e1-1		CASK_uc004dfm.4_Splice_Site|CASK_uc004dfn.4_Splice_Site	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.						cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TTCGAAAACGGGGGTGGGGGC	0.706000														8			4		0	0	0.00024832	0	0
PAAF1	80227	broad.mit.edu	37	11	73602227	73602227	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:73602227C>T	uc001ouk.1	+	3	297	c.263C>T	c.(262-264)tCc>tTc	p.S88F	PAAF1_uc001oul.1_Missense_Mutation_p.S71F|PAAF1_uc001oum.1_Missense_Mutation_p.S71F	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	Homo sapiens proteasomal ATPase-associated factor 1 (PAAF1), mRNA.	88					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					ACTACTTTTTCCAGAATTCAT	0.284000														14			21		0	0	0.000229342	0	0
COL11A1	1301	broad.mit.edu	37	1	103343611	103343611	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:103343611G>A	uc001dum.3	-	66	5739	c.5421C>T	c.(5419-5421)ttC>ttT	p.F1807F	COL11A1_uc001duk.3_Silent_p.F991F|COL11A1_uc001dul.3_Silent_p.F1795F|COL11A1_uc001dun.3_Silent_p.F1756F|COL11A1_uc009weh.3_Silent_p.F1679F	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1795					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.F1807F(2)|p.K1806K(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTCAAATCCGAACTTCTGAT	0.348000														44			23		0	0	0.00106085	0	0
TTLL2	83887	broad.mit.edu	37	6	167755067	167755067	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:167755067T>A	uc003qvs.1	+	2	1767	c.1679T>A	c.(1678-1680)tTt>tAt	p.F560Y		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	560					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTTCTTGTTTTTCCTTTCAAT	0.458000														39			18		0	0	0.000566183	0	0
SP7	121340	broad.mit.edu	37	12	53722232	53722232	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:53722232C>T	uc001sct.3	-	1	1101	c.994G>A	c.(994-996)Ggc>Agc	p.G332S	SP7_uc001scv.3_Missense_Mutation_p.G332S|SP7_uc001scu.3_Missense_Mutation_p.G314S	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						AACCTCTTGCCGCAGAAGAGC	0.617000														32			12		0	0	0.000151284	0	0
SLC4A8	9498	broad.mit.edu	37	12	51851149	51851149	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:51851149C>T	uc001rys.1	+	5	767	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	SLC4A8_uc010sni.2_Nonsense_Mutation_p.Q144*|SLC4A8_uc001rym.3_Nonsense_Mutation_p.Q144*|SLC4A8_uc001ryn.3_Nonsense_Mutation_p.Q144*|SLC4A8_uc001ryo.2_Nonsense_Mutation_p.Q144*|SLC4A8_uc001ryp.1_Nonsense_Mutation_p.Q144*|SLC4A8_uc010snj.2_Nonsense_Mutation_p.Q224*|SLC4A8_uc001ryq.4_Nonsense_Mutation_p.Q197*|SLC4A8_uc001ryr.3_Nonsense_Mutation_p.Q197*|SLC4A8_uc010snk.2_Nonsense_Mutation_p.Q144*	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	197					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GATCCTGGATCAGCAAGAACT	0.473000														30			25		0	0	0.00106085	0	0
IRAK1	3654	broad.mit.edu	37	X	153278809	153278809	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:153278809G>A	uc004fjs.1	-	11	1694	c.1615C>T	c.(1615-1617)Ccc>Tcc	p.P539S	IRAK1_uc004fjr.1_Intron|IRAK1_uc004fjt.1_Missense_Mutation_p.P460S	NM_001569	NP_001560	P51617	IRAK1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.	539					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|lipopolysaccharide-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAAGGGGGGATGCAGCTG	0.662000														21			22		0	0	0.000295444	0	0
WDR74	54663	broad.mit.edu	37	11	62603256	62603256	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:62603256G>A	uc001nvm.2	-	5	595	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	WDR74_uc001nvl.2_Missense_Mutation_p.P143S|WDR74_uc009yoi.2_Missense_Mutation_p.P143S|WDR74_uc010rmk.2_Missense_Mutation_p.P143S	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN	Homo sapiens WD repeat domain 74 (WDR74), mRNA.	143						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						ACCACATGGGGGTGTGCTGGG	0.532000														3			12		0	0	0.000151284	0	0
MUC16	94025	broad.mit.edu	37	19	9072702	9072702	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9072702A>G	uc002mkp.3	-	2	14948	c.14744T>C	c.(14743-14745)gTt>gCt	p.V4915A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4917	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						TTTGTAAGGAACAGTGCTTGT	0.522000														91			35		0	0	0.00058488	0	0
OR51S1	119692	broad.mit.edu	37	11	4869718	4869718	+	Missense_Mutation	SNP	G	A	A	rs115882083	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:4869718G>A	uc010qyo.2	-	0	721	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTTCCAGCGATCCTCTCTG	0.522000														9			17		0	0	0.000566183	0	0
ARMC4	55130	broad.mit.edu	37	10	28224181	28224181	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:28224181C>T	uc009xky.3	-	16	2351	c.2253_splice	c.e16-1	p.K751_splice	ARMC4_uc010qds.2_Splice_Site_p.K276_splice|ARMC4_uc010qdt.2_Splice_Site_p.K443_splice|ARMC4_uc001itz.3_Splice_Site_p.K751_splice	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	751							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATTCCCGAAACCTAAGTTCAT	0.393000														15			25		0	0	0.000586117	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123591	12123591	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:12123591G>A	uc003nac.3	+	3	3742	c.3563G>A	c.(3562-3564)cGg>cAg	p.R1188Q	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1188					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CACCCTTCTCGGGACGGGTCT	0.507000														27			18		0	0	0.00152264	0	0
DNAH5	1767	broad.mit.edu	37	5	13780988	13780988	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:13780988C>T	uc003jfd.2	-	52	8943	c.8901G>A	c.(8899-8901)agG>agA	p.R2967R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2967	AAA 4 (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)					ATGAAGCCAACCTCGTCAGGC	0.468000									Kartagener syndrome					21			18		0	0	0.000958276	0	0
CLEC16A	23274	broad.mit.edu	37	16	11219974	11219974	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:11219974C>T	uc021tcy.1	+	21	2842	c.2612C>T	c.(2611-2613)tCc>tTc	p.S871F	CLEC16A_uc002dan.4_Missense_Mutation_p.S853F|CLEC16A_uc002dao.3_Missense_Mutation_p.S869F|CLEC16A_uc002dap.3_5'UTR	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	871								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						GTGCAGCGCTCCGTGTTTGCA	0.652000														25			13		0	0	0.000151284	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317908	154317908	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:154317908G>T	uc001fex.3	+	22	2680	c.2680G>T	c.(2680-2682)Ggg>Tgg	p.G894W		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	880					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G894R(2)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTGGTGCATGGGCGCTGGTC	0.527000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		304			10		3.86212e-05	0.000215662	0.000673444	1	0
MYO15A	51168	broad.mit.edu	37	17	18022910	18022911	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:18022910_18022911CC>TT	uc021trm.1	+	0	1015_1016	c.796_797CC>TT	c.(796-798)ccc>TTc	p.P266F	MYO15A_uc021trl.1_Missense_Mutation_p.P266F	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	266	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGCCTCGGCCCCTACAGCCCG	0.644000														22			10		0	0	6.4e-05	0	0
CDH16	1014	broad.mit.edu	37	16	66948290	66948290	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:66948290C>T	uc002eql.3	-	6	803	c.609G>A	c.(607-609)ctG>ctA	p.L203L	CDH16_uc010cdy.3_Silent_p.L203L|CDH16_uc021tjx.1_Silent_p.L203L|CDH16_uc002eqm.3_Intron	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	203	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGGTCCTCTCCAGGGCGTGGT	0.607000														19			10		0	0	0.000673444	0	0
MUC16	94025	broad.mit.edu	37	19	9063850	9063850	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9063850C>T	uc002mkp.3	-	2	23800	c.23596G>A	c.(23596-23598)Gaa>Aaa	p.E7866K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7868	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						GTGACGTCTTCCTTGGAGATC	0.537000														36			17		0	0	0.000422831	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668404	176668404	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:176668404C>T	uc001gkz.3	+	7	4079	c.2915C>T	c.(2914-2916)tCc>tTc	p.S972F	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	972					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGGTCACTTCCTTCTTCATG	0.557000														101			44		0	0	0.000509022	0	0
ZNF19	7567	broad.mit.edu	37	16	71509231	71509231	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:71509231G>A	uc010cgc.1	-	5	1725	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	ZNF23_uc002fai.3_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.H395Y|ZNF19_uc002fal.1_Missense_Mutation_p.H395Y|ZNF19_uc002fam.1_Missense_Mutation_p.H407Y	NM_006961	NP_008892	P17023	ZNF19_HUMAN	Homo sapiens zinc finger protein 19 (ZNF19), mRNA.	407						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TCTCCAGTATGGATTCTTTGA	0.443000														44			26		0	0	0.00047179	0	0
C7orf58	79974	broad.mit.edu	37	7	120911459	120911459	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:120911459G>A	uc003vjq.4	+	21	3290	c.2843G>A	c.(2842-2844)gGg>gAg	p.G948E		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	948						endoplasmic reticulum		p.Q947K(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					TTTCTACAGGGGAAGTGTGGA	0.323000														72			89		0	0	0.000781405	0	0
CD1C	911	broad.mit.edu	37	1	158262012	158262012	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:158262012G>A	uc001fru.3	+	2	759	c.467G>A	c.(466-468)gGa>gAa	p.G156E	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	156					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCAGGCTGTGGAAGTTTGGCC	0.448000														122			65		0	0	0.000781405	0	0
NUP43	348995	broad.mit.edu	37	6	150059891	150059891	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:150059891G>A	uc003qmz.3	-	4	583	c.526C>T	c.(526-528)Cat>Tat	p.H176Y	NUP43_uc003qmx.4_5'Flank|NUP43_uc011eef.1_Intron	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	Homo sapiens nucleoporin 43kDa (NUP43), transcript variant 1, mRNA.	176					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		GTTACAGCATGGAGTGTACTA	0.343000														73			39		0	0	0.000509022	0	0
SUN1	23353	broad.mit.edu	37	7	872193	872193	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:872193C>T	uc021zym.1	+	0	52	c.32C>T	c.(31-33)cCt>cTt	p.P11L	SUN1_uc021zyl.1_Missense_Mutation_p.P11L|SUN1_uc010ksa.1_Missense_Mutation_p.P32L|SUN1_uc003sje.1_Missense_Mutation_p.P11L|SUN1_uc011jvq.2_Missense_Mutation_p.P11L|SUN1_uc003sjf.3_Intron	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	11	LMNA-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGTACAGTCCTCCCCAGTGT	0.552000														8			9		0	0	0.000442599	0	0
COL19A1	1310	broad.mit.edu	37	6	70672762	70672762	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:70672762G>A	uc003pfc.1	+	11	1143	c.1026_splice	c.e11+1	p.K342_splice	COL19A1_uc010kam.2_Splice_Site_p.K238_splice	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	342	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTGGTGAAAAGGTAAATATCT	0.303000														28			18		0	0	0.00152264	0	0
SUPT6H	6830	broad.mit.edu	37	17	27011697	27011697	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:27011697C>T	uc010crt.3	+	18	2515	c.2323C>T	c.(2323-2325)Caa>Taa	p.Q775*	SUPT6H_uc002hby.3_Nonsense_Mutation_p.Q775*	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	775					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGACGAGAACCAAGGGAAGGG	0.507000														43			25		0	0	0.000720815	0	0
APOC4	346	broad.mit.edu	37	19	45448482	45448482	+	RNA	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:45448482C>T	uc002pah.3	+	2		c.344C>T				NM_001646		P55056	APOC4_HUMAN	Homo sapiens apolipoprotein C-IV (APOC4), mRNA.						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		GGCCTGGTTCCTCGAATCCAA	0.567000														209			141		0	0	0.000781405	0	0
MYH6	4624	broad.mit.edu	37	14	23865960	23865960	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:23865960C>T	uc001wjv.3	-	18	2306	c.2235G>A	c.(2233-2235)gaG>gaA	p.E745E		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	745	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGAGCAGCTTCTCTGTCCCCT	0.562000														35			23		0	0	0.000720815	0	0
ARMC10	83787	broad.mit.edu	37	7	102738832	102738832	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:102738832G>A	uc003vaw.2	+	6	1256	c.864G>A	c.(862-864)aaG>aaA	p.K288K	ARMC10_uc003vay.2_Silent_p.K229K|ARMC10_uc003vax.2_Silent_p.K253K|ARMC10_uc003vbb.2_Silent_p.K194K|ARMC10_uc011kli.2_Silent_p.K229K|ARMC10_uc010lis.2_Silent_p.K170K	NM_031905	NP_114111	Q8N2F6	ARM10_HUMAN	Homo sapiens armadillo repeat containing 10 (ARMC10), transcript variant A, mRNA.	288					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGAATATAAAGAACTGCCTCA	0.388000														137			23		0	0	0.000720815	0	0
F2RL1	2150	broad.mit.edu	37	5	76129487	76129488	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:76129487_76129488GG>TT	uc003keo.3	+	1	1230_1231	c.1055_1056GG>TT	c.(1054-1056)agg>aTT	p.R352I		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	352					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CATGATTTCAGGGATCATGCAA	0.475000														515			17		0	0	6.4e-05	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79747353	79747353	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:79747353C>T	uc003kgr.4	+	10	3734	c.3432C>T	c.(3430-3432)ctC>ctT	p.L1144L	ZFYVE16_uc003kgp.3_Silent_p.L1144L|ZFYVE16_uc003kgq.4_Silent_p.L1144L|ZFYVE16_uc003kgs.4_Silent_p.L1144L|ZFYVE16_uc003kgt.4_Silent_p.L232L|ZFYVE16_uc003kgu.4_5'Flank	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	1144					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AGAGTTTTCTCAGTAGCAAGG	0.303000														35			24		0	0	0.000720815	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554604	85554604	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:85554604G>A	uc021vjw.1	-	1	585	c.251C>T	c.(250-252)tCg>tTg	p.S84L	TGOLN2_uc002spb.3_Missense_Mutation_p.S84L|TGOLN2_uc002soz.3_Missense_Mutation_p.S84L|TGOLN2_uc021vjx.1_Missense_Mutation_p.S84L|TGOLN2_uc002spa.3_Intron|TGOLN2_uc002spc.2_Missense_Mutation_p.S84L	NM_001206840	NP_001193769	O43493	TGON2_HUMAN	Homo sapiens trans-golgi network protein 2 (TGOLN2), transcript variant 2, mRNA.	84	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CTCCGCACCCGACTTGTTGGG	0.602000														156			86		0	0	0.000781405	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687260	8687260	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:8687260G>A	uc001quo.1	-	5	799	c.634C>T	c.(634-636)Cct>Tct	p.P212S		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	212						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TTGTTCAAAGGATTTATTCCT	0.418000														29			17		0	0	0.000958276	0	0
OR13C2	392376	broad.mit.edu	37	9	107367211	107367211	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:107367211C>T	uc011lvq.2	-	0	698	c.698G>A	c.(697-699)gGg>gAg	p.G233E		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E232K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TTTGCTTCTCCCCTCGGAAGA	0.413000														10			35		0	0	0.000814825	0	0
SEC24C	9632	broad.mit.edu	37	10	75527676	75527676	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:75527676C>T	uc001juw.3	+	15	2272	c.2092C>T	c.(2092-2094)Ctc>Ttc	p.L698F	SEC24C_uc009xrj.2_Missense_Mutation_p.L556F|SEC24C_uc001jux.3_Missense_Mutation_p.L698F|SEC24C_uc010qko.2_Missense_Mutation_p.L579F|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	698					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AGATCTCTTTCTCTTCCCTAA	0.522000														9			23		0	0	0.000295444	0	0
ZP4	57829	broad.mit.edu	37	1	238050115	238050115	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:238050115C>T	uc001hym.3	-	5	1082	c.795G>A	c.(793-795)gtG>gtA	p.V265V	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	265	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCCCATTTTTCACATCCCTAG	0.468000														97			34		0	0	0.000814825	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90733018	90733018	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:90733018G>A	uc010qmx.1	+	10	1757	c.1334G>A	c.(1333-1335)gGa>gAa	p.G445E	ACTA2_uc001kfq.3_Intron|FAS_uc010qna.2_Non-coding_Transcript	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	0							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		GGACCAAATGGATTCCCACTC	0.433000														18			26		0	0	0.000586117	0	0
KDM2B	84678	broad.mit.edu	37	12	121986882	121986882	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:121986882G>A	uc001uat.3	-	5	687	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	KDM2B_uc001uas.3_Silent_p.L164L|KDM2B_uc021rfd.1_Silent_p.L164L|KDM2B_uc001uau.3_Silent_p.L78L|KDM2B_uc021rfe.1_Silent_p.L195L|KDM2B_uc001uav.4_Silent_p.L195L	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	195	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CAGTCCACCAGGTCTACCTGA	0.562000														24			17		0	0	0.000958276	0	0
GTF3C5	9328	broad.mit.edu	37	9	135919250	135919250	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:135919250C>T	uc004ccj.4	+	2	846	c.509C>T	c.(508-510)cCa>cTa	p.P170L	GTF3C5_uc010mzz.2_Missense_Mutation_p.P45L|GTF3C5_uc004cci.4_Missense_Mutation_p.P170L	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	170						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TACATCCCCCCACCCATCTTC	0.617000														15			11		0	0	0.000978159	0	0
CXorf26	51260	broad.mit.edu	37	X	75397606	75397606	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:75397606A>G	uc004ecl.1	+	5	768	c.565A>G	c.(565-567)Aat>Gat	p.N189D		NM_016500	NP_057584	Q9BVG4	CX026_HUMAN	Homo sapiens chromosome X open reading frame 26 (CXorf26), mRNA.	189										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)	14						gaacaccaagaatggaggaga	0.418000														11			7		0	0	8.12818e-05	0	0
RXFP2	122042	broad.mit.edu	37	13	32366933	32366933	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:32366933G>A	uc001utt.3	+	15	1565	c.1494G>A	c.(1492-1494)atG>atA	p.M498I	RXFP2_uc010aba.3_Missense_Mutation_p.M474I	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	498						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GCCGCCTCATGGGGTTCCTGG	0.483000														27			22		0	0	0.00047179	0	0
RNF168	165918	broad.mit.edu	37	3	196215511	196215511	+	Silent	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:196215511T>C	uc003fwq.3	-	1	940	c.345A>G	c.(343-345)gaA>gaG	p.E115E	RNF168_uc010iah.3_Intron	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	115	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTCTTCTCAGTTCCCCAGGTT	0.318000														42			22		0	0	0.000878237	0	0
GPR153	387509	broad.mit.edu	37	1	6314056	6314057	+	Silent	DNP	GG	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:6314056_6314057GG>AA	uc001amp.2	-	2	767_768	c.507_508CC>TT	c.(505-510)ggcctg>ggTTtg	p.169_170GL>GL		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.	169						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CCAAAGCCCAGGCCGATCTCAG	0.658000														13			5		0	0	6.4e-05	0	0
HEXB	3074	broad.mit.edu	37	5	73989524	73989524	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:73989524T>A	uc003kdf.4	+	2	623	c.506T>A	c.(505-507)tTa>tAa	p.L169*	HEXB_uc003kdd.3_5'UTR	NM_000521	NP_000512	P07686	HEXB_HUMAN	Homo sapiens hexosaminidase B (beta polypeptide) (HEXB), mRNA.	169					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TGGGGAGCATTACGAGGTAAG	0.383000														35			29		0	0	0.00058488	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146805346	146805346	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:146805346G>A	uc003weu.2	+	4	1174	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	220	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAAGACGTCTGAAAGTGAAGG	0.388000										HNSCC(39;0.1)				64			21		0	0	0.000375601	0	0
CDH23	64072	broad.mit.edu	37	10	73462447	73462447	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:73462447A>T	uc001jrx.4	+	22	3113	c.2723A>T	c.(2722-2724)tAc>tTc	p.Y908F	CDH23_uc001jry.3_Missense_Mutation_p.Y908F|CDH23_uc001jrz.3_Missense_Mutation_p.Y908F	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	910	Cadherin 9.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTCTCCATCTACCAAGTGAGT	0.562000														11			24		0	0	0.000586117	0	0
RPL5	6125	broad.mit.edu	37	1	93298949	93298949	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:93298949T>C	uc001doz.3	+	1	85	c.7T>C	c.(7-9)Ttt>Ctt	p.F3L	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_5'UTR|RPL5_uc001dpd.3_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	3					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		CTTTAAGGGGTTTGTTAAAGT	0.299000														30			16		0	0	0.000422831	0	0
KANSL3	55683	broad.mit.edu	37	2	97278298	97278298	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:97278298G>A	uc002swn.4	-	7	1061	c.915C>T	c.(913-915)gtC>gtT	p.V305V	KANSL3_uc002swh.4_Silent_p.V193V|KANSL3_uc002swi.4_Silent_p.V206V|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Silent_p.V218V|KANSL3_uc010fhz.3_Silent_p.V99V|KANSL3_uc002swl.4_Silent_p.V206V|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Silent_p.V99V|KANSL3_uc002swp.1_Silent_p.V206V|KANSL3_uc002swq.1_Silent_p.V77V|KANSL3_uc010fhy.1_Silent_p.V206V	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	305																	CTACAGGGATGACCTGAAGGA	0.473000														46			28		0	0	0.00127121	0	0
EZH1	2145	broad.mit.edu	37	17	40865335	40865335	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:40865335G>A	uc010wgu.2	-	9	1150	c.1114C>T	c.(1114-1116)Cac>Tac	p.H372Y	EZH1_uc002iaz.3_Missense_Mutation_p.H366Y|EZH1_uc002iba.3_Missense_Mutation_p.H357Y|EZH1_uc010wgt.2_Missense_Mutation_p.H296Y|EZH1_uc010wgv.2_Missense_Mutation_p.H326Y|EZH1_uc010wgw.2_Missense_Mutation_p.H227Y|EZH1_uc010cyp.2_Missense_Mutation_p.H267Y|EZH1_uc010cyq.2_Missense_Mutation_p.H283Y|EZH1_uc010cys.2_Missense_Mutation_p.H317Y|EZH1_uc010cyo.1_Missense_Mutation_p.H29Y|EZH1_uc010cyr.1_Missense_Mutation_p.H18Y	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	366					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding	p.S371F(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTGACTATGTGGTGCCTTCTC	0.562000														53			28		0	0	0.000878237	0	0
ZFP57	346171	broad.mit.edu	37	6	29640508	29640508	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:29640508C>T	uc011dlw.2	-	3	1531	c.1380G>A	c.(1378-1380)agG>agA	p.R460R		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	376					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.R440S(1)|p.L459L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CTTTATAGCCCCTCCAGTGAT	0.557000														47			21		0	0	0.00152264	0	0
RELN	5649	broad.mit.edu	37	7	103276823	103276823	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:103276823G>A	uc022ajr.1	-	17	2322	c.2162C>T	c.(2161-2163)tCc>tTc	p.S721F	RELN_uc022ajq.1_Missense_Mutation_p.S721F|RELN_uc010liz.3_Missense_Mutation_p.S721F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	721					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGGTAAGAGGAGAGCCTGGA	0.488000														32			32		0	0	0.000491102	0	0
TPTE	7179	broad.mit.edu	37	21	10914373	10914373	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:10914373C>T	uc002yip.1	-	20	1714	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.G431E|TPTE_uc002yir.1_Missense_Mutation_p.G411E|TPTE_uc010gkv.1_Missense_Mutation_p.G311E	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	449	C2 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)		CGAACATTTTCCTAATGAAAT	0.318000														68			8		0	0	0.000673444	0	0
FAM83B	222584	broad.mit.edu	37	6	54806277	54806277	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:54806277G>A	uc003pck.3	+	4	2624	c.2508G>A	c.(2506-2508)tcG>tcA	p.S836S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	836	Poly-Ser.									autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTTCCTCATCGAATTCTCAAG	0.388000														20			8		0	0	0.000157383	0	0
PLG	5340	broad.mit.edu	37	6	161139332	161139332	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:161139332C>T	uc003qtm.4	+	7	906	c.794C>T	c.(793-795)cCt>cTt	p.P265L		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	265					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CAAGCAACACCTCCACCATCT	0.502000														52			29		0	0	0.00178596	0	0
DGKG	1608	broad.mit.edu	37	3	185969597	185969597	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:185969597C>T	uc003fqa.3	-	18	2249	c.1712G>A	c.(1711-1713)gGg>gAg	p.G571E	DGKG_uc003fqb.3_Missense_Mutation_p.G532E|DGKG_uc003fqc.3_Missense_Mutation_p.G546E|DGKG_uc011brx.2_Missense_Mutation_p.G512E	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	571					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GACCTGGTCCCCGTTTTCCAC	0.507000														64			44		0	0	0.000509022	0	0
NFASC	23114	broad.mit.edu	37	1	204945813	204945813	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:204945813A>T	uc010prc.2	+	14	1951	c.422A>T	c.(421-423)gAc>gTc	p.D141V	NFASC_uc001hbh.3_Missense_Mutation_p.D574V|NFASC_uc010pqz.2_Missense_Mutation_p.D568V|NFASC_uc001hbj.3_Missense_Mutation_p.D574V|NFASC_uc010pra.2_Missense_Mutation_p.D585V|NFASC_uc001hbi.3_Missense_Mutation_p.D585V|NFASC_uc010prb.2_Missense_Mutation_p.D585V|NFASC_uc001hbk.1_Missense_Mutation_p.D395V			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	574					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGAAGGAAGACGACTCCCTG	0.602000														119			41		0	0	0.00170553	0	0
MXRA5	25878	broad.mit.edu	37	X	3228042	3228042	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:3228042C>T	uc004crg.4	-	6	8359	c.8202G>A	c.(8200-8202)cgG>cgA	p.R2734R		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2734	Ig-like C2-type 12.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGCTGGTGATCCGGGGAGGAT	0.597000														28			15		0	0	0.00074312	0	0
MYOT	9499	broad.mit.edu	37	5	137223019	137223019	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:137223019G>A	uc011cye.2	+	9	1459	c.1442G>A	c.(1441-1443)gGa>gAa	p.G481E	PKD2L2_uc010jep.1_5'Flank|PKD2L2_uc003lbw.1_5'Flank|PKD2L2_uc003lbx.3_5'Flank|PKD2L2_uc003lby.3_5'Flank|MYOT_uc003lbv.3_Missense_Mutation_p.G481E|MYOT_uc011cyg.2_Missense_Mutation_p.G297E|MYOT_uc011cyh.2_Missense_Mutation_p.G366E	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	Homo sapiens myotilin (MYOT), transcript variant 2, mRNA.	481	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AACCCAGAAGGAGAATTTCAG	0.383000														36			27		0	0	0.000720815	0	0
CATSPER2	117155	broad.mit.edu	37	15	43940225	43940225	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:43940225A>G	uc001zsh.3	-	1	250	c.35T>C	c.(34-36)cTt>cCt	p.L12P	CATSPER2_uc010bdm.3_Non-coding_Transcript|CATSPER2_uc001zsi.3_Missense_Mutation_p.L12P|CATSPER2_uc001zsj.3_Missense_Mutation_p.L12P|CATSPER2_uc001zsk.3_Missense_Mutation_p.L12P|CATSPER2_uc001zsl.1_Intron	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA.	12					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGCTCGGGGAAGCTGCATCTG	0.488000														217			109		0	0	0.000781405	0	0
UPF3B	65109	broad.mit.edu	37	X	118977163	118977163	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:118977163C>T	uc004erz.2	-	4	671	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	UPF3B_uc004esa.2_Missense_Mutation_p.E191K	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.	191	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CCTATTAATTCTCTATTTTTT	0.388000														85			43		0	0	0.000437636	0	0
ZNF664	144348	broad.mit.edu	37	12	124497283	124497284	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:124497283_124497284CC>TT	uc001ugb.3	+	4	1621_1622	c.592_593CC>TT	c.(592-594)ccc>TTc	p.P198F	FAM101A_uc021rfy.1_Intron|ZNF664_uc001uga.3_Missense_Mutation_p.P198F|ZNF664_uc021rfz.1_Missense_Mutation_p.P198F	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	Homo sapiens zinc finger protein 664 (ZNF664), transcript variant 1, mRNA.	198				P -> H (in Ref. 4; AAH51696).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TGGAGAGAAACCCTATAGATGT	0.500000														35			24		0	0	6.4e-05	0	0
SPRR3	6707	broad.mit.edu	37	1	152975642	152975642	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:152975642G>A	uc021ozo.1	+	0	146	c.146G>A	c.(145-147)gGa>gAa	p.G49E	SPRR3_uc001fax.4_Missense_Mutation_p.G49E|SPRR3_uc001faz.4_Missense_Mutation_p.G49E|SPRR3_uc001fay.2_Missense_Mutation_p.G49E	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	49	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACAACCTGGAAACACAAAG	0.547000														12			10		0	0	0.000673444	0	0
MAOB	4129	broad.mit.edu	37	X	43661466	43661466	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:43661466C>T	uc004dfz.4	-	4	605	c.429G>A	c.(427-429)tgG>tgA	p.W143*	MAOB_uc011mkx.2_Nonsense_Mutation_p.W127*|MAOB_uc011mky.2_Nonsense_Mutation_p.W127*	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	143					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TCATGTTGTCCCACTCTTCTG	0.438000														14			7		0	0	0.000274275	0	0
CD96	10225	broad.mit.edu	37	3	111263901	111263901	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:111263901G>A	uc003dxw.3	+	1	240	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	CD96_uc003dxv.3_Missense_Mutation_p.E24K|CD96_uc003dxx.3_Missense_Mutation_p.E24K|CD96_uc010hpy.1_Missense_Mutation_p.E24K	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	24					cell adhesion|immune response|regulation of immune response	integral to plasma membrane		p.E24K(2)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGGAGTTTGGGAAAAAACAGT	0.403000									Opitz Trigonocephaly syndrome					63			29		0	0	0.001512	0	0
SYT2	127833	broad.mit.edu	37	1	202566040	202566040	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:202566040C>T	uc001gye.3	-	8	1298	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	SYT2_uc010pqb.2_Missense_Mutation_p.E369K|SYT2_uc009xaf.3_Missense_Mutation_p.E199K	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	369	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CCTATGGCTTCGTTCTTGCCC	0.607000														47			19		0	0	0.00152264	0	0
TTBK1	84630	broad.mit.edu	37	6	43227423	43227423	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:43227423G>A	uc003ouq.1	+	11	1682	c.1403G>A	c.(1402-1404)cGa>cAa	p.R468Q		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	468						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GCGGACGGGCGAGTGGAGCTA	0.657000														4			4		0	0	0.00116845	0	0
SLC9C1	285335	broad.mit.edu	37	3	111927084	111927084	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:111927084C>T	uc003dyu.3	-	15	2149	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Missense_Mutation_p.E595K	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	643	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TGTTTTAATTCGCTGTGGTAG	0.303000														116			81		0	0	0.000781405	0	0
LRRC43	254050	broad.mit.edu	37	12	122669150	122669150	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:122669150G>A	uc009zxm.3	+	1	260	c.235G>A	c.(235-237)Gag>Aag	p.E79K	LRRC43_uc001ubw.4_5'UTR|LRRC43_uc009zxl.1_Non-coding_Transcript	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	79										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCCCGGAGAGGAGACGGTGGA	0.597000														16			9		0	0	0.000274275	0	0
GBP4	115361	broad.mit.edu	37	1	89652711	89652711	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:89652711G>A	uc001dnb.3	-	8	1601	c.1485C>T	c.(1483-1485)gcC>gcT	p.A495A		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	495						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CAGCAGTGAGGGCTTTGTCTG	0.527000														57			33		0	0	0.000692331	0	0
PTPRB	5787	broad.mit.edu	37	12	70988397	70988397	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:70988397C>T	uc001swb.4	-	3	742	c.712G>A	c.(712-714)Gat>Aat	p.D238N	PTPRB_uc010sto.2_Missense_Mutation_p.D238N|PTPRB_uc010stp.2_Missense_Mutation_p.D238N|PTPRB_uc001swc.4_Missense_Mutation_p.D456N|PTPRB_uc001swa.4_Missense_Mutation_p.D456N|PTPRB_uc001swd.4_Missense_Mutation_p.D455N|PTPRB_uc009zrr.2_Missense_Mutation_p.D335N|PTPRB_uc001swe.3_Missense_Mutation_p.D456N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	238	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATCCCTTTATCCATTAGCATC	0.468000														42			17		0	0	0.00121646	0	0
ZNF662	389114	broad.mit.edu	37	3	42956297	42956297	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:42956297G>A	uc003cmk.2	+	3	996	c.810G>A	c.(808-810)ggG>ggA	p.G270G	ZNF662_uc003cmi.2_Silent_p.G244G|ZNF662_uc003cmj.2_Silent_p.G136G	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTCACAGTGGGGTGAAACCCT	0.413000														31			28		0	0	0.00106085	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222071	140222071	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140222071C>T	uc003lhs.2	+	0	1165	c.1165C>T	c.(1165-1167)Ctg>Ttg	p.L389L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.L389L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	404	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTGCTCCCTGATGCCCCA	0.557000														91			65		0	0	0.000781405	0	0
VBP1	7411	broad.mit.edu	37	X	154456711	154456711	+	Silent	SNP	C	T	T	rs11501		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:154456711C>T	uc004fnc.3	+	3	390	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	VBP1_uc004fnd.3_Silent_p.L74L	NM_003372	NP_003363	P61758	PFD3_HUMAN	Homo sapiens von Hippel-Lindau binding protein 1 (VBP1), mRNA.	111					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding			NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCAGATAACCTGTATTGCAA	0.398000														126			56		0	0	0.000781405	0	0
XIRP2	129446	broad.mit.edu	37	2	168108204	168108204	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:168108204G>A	uc002udx.3	+	8	10391	c.10302G>A	c.(10300-10302)atG>atA	p.M3434I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.M3259I|XIRP2_uc010fpq.3_Missense_Mutation_p.M3212I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3259					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						AGTCGAAGATGAAAACCTCTT	0.448000														29			34		0	0	0.000692331	0	0
OR51L1	119682	broad.mit.edu	37	11	5021068	5021068	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:5021068C>T	uc010qyu.2	+	0	856	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P286P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTTCTTCTTCCCCCAGTCCT	0.458000														10			28		0	0	0.000339439	0	0
OR52E4	390081	broad.mit.edu	37	11	5906158	5906158	+	Silent	SNP	G	A	A	rs145588560		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:5906158G>A	uc010qzs.2	+	0	636	c.636G>A	c.(634-636)gtG>gtA	p.V212V	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGTGGATGTGATCTTAATTG	0.453000														22			28		0	0	0.00148497	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338411	28338411	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:28338411C>T	uc002ymg.3	-	0	1029	c.300G>A	c.(298-300)ttG>ttA	p.L100L		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	100					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCTCCAGGTCCAAGAGGAACC	0.682000														33			16		0	0	0.00074312	0	0
LYPD1	116372	broad.mit.edu	37	2	133403686	133403686	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:133403686C>T	uc002ttm.4	-	3	506	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	GPR39_uc002ttl.3_3'UTR|LYPD1_uc002ttn.3_Missense_Mutation_p.A120T|LYPD1_uc002tto.3_Missense_Mutation_p.A68T	NM_001077427	NP_001070895	Q8N2G4	LYPD1_HUMAN	Homo sapiens LY6/PLAUR domain containing 1 (LYPD1), transcript variant 2, mRNA.	120						anchored to membrane|plasma membrane				lung(2)	2						GGCCTGAGGGCCGAGGCAGAA	0.577000														37			12		0	0	0.000219431	0	0
MAP7D1	55700	broad.mit.edu	37	1	36644056	36644057	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:36644056_36644057CC>TT	uc001bzz.3	+	9	1961_1962	c.1745_1746CC>TT	c.(1744-1746)ccc>cTT	p.P582L	MAP7D1_uc001caa.3_Missense_Mutation_p.P550L|MAP7D1_uc001cab.3_Missense_Mutation_p.P545L|MAP7D1_uc001cac.3_Missense_Mutation_p.P282L|MAP7D1_uc001cad.3_Missense_Mutation_p.P119L	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	582	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCCCTGCTCCCCCGGTGACCC	0.683000														6			5		0	0	6.4e-05	0	0
CECR2	27443	broad.mit.edu	37	22	18028326	18028326	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:18028326C>T	uc010gqw.1	+	15	3277	c.3277C>T	c.(3277-3279)Ccc>Tcc	p.P1093S	CECR2_uc010gqv.1_Missense_Mutation_p.P953S|CECR2_uc002zml.2_Missense_Mutation_p.P954S|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1137					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GAGCCAGTTTCCCCCGCTGTA	0.607000														2			10		0	0	0.000673444	0	0
IGSF1	3547	broad.mit.edu	37	X	130419413	130419413	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:130419413A>T	uc004ewe.4	-	4	690	c.407T>A	c.(406-408)aTt>aAt	p.I136N	IGSF1_uc004ewd.3_Missense_Mutation_p.I136N|IGSF1_uc022cdv.1_Missense_Mutation_p.I127N|IGSF1_uc004ewf.2_Missense_Mutation_p.I116N|IGSF1_uc022cdw.1_Missense_Mutation_p.I136N|IGSF1_uc004ewg.3_Missense_Mutation_p.I136N	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	136					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						CTCAGCCTGAATCCAGAAGAT	0.498000														52			33		0	0	0.000491102	0	0
CDH6	1004	broad.mit.edu	37	5	31305377	31305377	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:31305377G>A	uc003jhe.2	+	6	1456	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	CDH6_uc003jhd.2_Missense_Mutation_p.D366N	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	366	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCTTTCAAAGATTCAGCCAC	0.428000														36			26		0	0	0.000720815	0	0
DCTN5	84516	broad.mit.edu	37	16	23672571	23672571	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:23672571C>T	uc002dly.2	+	3	494	c.317C>T	c.(316-318)tCc>tTc	p.S106F	DCTN5_uc021tfi.1_Missense_Mutation_p.S64F|DCTN5_uc021tfj.1_Missense_Mutation_p.S106F	NM_032486	NP_115875	Q9BTE1	DCTN5_HUMAN	Homo sapiens dynactin 5 (p25) (DCTN5), transcript variant 1, mRNA.	106						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		CAGATTGGTTCCTATGTTCAT	0.443000														38			26		0	0	0.000409698	0	0
GLDN	342035	broad.mit.edu	37	15	51696536	51696536	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:51696536G>A	uc002aba.3	+	9	1410	c.1241G>A	c.(1240-1242)cGa>cAa	p.R414Q	GLDN_uc002abb.3_Missense_Mutation_p.R290Q	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	414	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TATTTTGATCGAAAATACCTT	0.373000														88			62		0	0	0.000781405	0	0
ABCA3	21	broad.mit.edu	37	16	2345602	2345602	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:2345602C>T	uc002cpy.1	-	17	3115	c.2403G>A	c.(2401-2403)gaG>gaA	p.E801E	ABCA3_uc010bsk.1_Silent_p.E743E|ABCA3_uc010bsl.1_Silent_p.E801E	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	801			E -> D (in a breast cancer sample; somatic mutation).		response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.E801D(2)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGTGCGTGCTCTCTCTGGGAA	0.627000														84			50		0	0	0.000781405	0	0
ZNF502	91392	broad.mit.edu	37	3	44763909	44763909	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:44763909C>T	uc011baa.2	+	3	1855	c.1600C>T	c.(1600-1602)Ctt>Ttt	p.L534F	ZNF502_uc003cns.3_Missense_Mutation_p.L534F|ZNF502_uc011bab.2_Missense_Mutation_p.L534F|ZNF502_uc003cnt.3_Missense_Mutation_p.L534F	NM_001134440	NP_149987	Q8TBZ5	ZN502_HUMAN	Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA.	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TAGTTCAGTCCTTTTCAGACA	0.428000														46			24		0	0	0.000878237	0	0
IGSF9	57549	broad.mit.edu	37	1	159897632	159897632	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:159897632G>A	uc001fur.2	-	19	3474	c.3276C>T	c.(3274-3276)ttC>ttT	p.F1092F	IGSF9_uc001fuq.2_Silent_p.F1076F|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.F238F	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	1092						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTCCCCAGGGAATTCTGAGT	0.522000														28			9		0	0	0.000673444	0	0
CDH6	1004	broad.mit.edu	37	5	31313484	31313484	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:31313484G>A	uc003jhe.2	+	7	1673	c.1313G>A	c.(1312-1314)gGt>gAt	p.G438D	CDH6_uc003jhd.2_Missense_Mutation_p.G438D	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	438	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTGGAAATGGTTCGATTTTT	0.388000														55			53		0	0	0.000781405	0	0
FER	2241	broad.mit.edu	37	5	108523217	108523217	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:108523217C>T	uc003kop.1	+	19	2794	c.2410C>T	c.(2410-2412)Cgc>Tgc	p.R804C	FER_uc011cvg.1_Missense_Mutation_p.R629C	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	804	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		ACCTGAAAATCGCCCTAAGTT	0.453000														35			33		0	0	0.000409698	0	0
DCHS2	54798	broad.mit.edu	37	4	155219727	155219727	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:155219727C>T	uc003inw.2	-	17	4374	c.4374G>A	c.(4372-4374)agG>agA	p.R1458R		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1458	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTACAGAGCTCCTAGGTGGAT	0.473000														20			37		0	0	0.00111076	0	0
YSK4	80122	broad.mit.edu	37	2	135743570	135743570	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:135743570C>T	uc002tue.1	-	6	2903	c.2872G>A	c.(2872-2874)Gac>Aac	p.D958N	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.D845N|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.D686N|YSK4_uc002tui.4_Missense_Mutation_p.D975N	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	958							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTTACAGAGTCCATAATTTCT	0.308000														31			14		0	0	0.000151284	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427528	71427528	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:71427528C>T	uc004eaq.1	-	1	1186	c.1089G>A	c.(1087-1089)agG>agA	p.R363R	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Silent_p.R240R	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	363					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)					AATCATTTTTCCTGGAAAGGG	0.363000														106			51		0	0	0.000781405	0	0
KLRC1	3821	broad.mit.edu	37	12	10599208	10599208	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:10599208C>T	uc001qyl.3	-	6	858	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	KLRC1_uc009zhm.2_Missense_Mutation_p.R215Q|KLRC1_uc001qym.3_Missense_Mutation_p.R197Q|KLRC1_uc001qyn.3_Missense_Mutation_p.R215Q|KLRC1_uc001qyo.3_Missense_Mutation_p.R197Q	NM_002259	NP_998823	P26715	NKG2A_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA.	215	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						TGATTTAAGTCGATTTACTTG	0.333000														83			31		0	0	0.00128727	0	0
SRCAP	10847	broad.mit.edu	37	16	30750282	30750282	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:30750282C>T	uc002dze.1	+	33	9306	c.8921C>T	c.(8920-8922)cCc>cTc	p.P2974L	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P2769L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2974	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CACCCATCACCCCTAACCCCA	0.577000														11			15		0	0	0.000566183	0	0
MCF2L	23263	broad.mit.edu	37	13	113714954	113714954	+	Silent	SNP	G	A	A	rs141848502		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:113714954G>A	uc001vsu.3	+	4	588	c.588G>A	c.(586-588)acG>acA	p.T196T	MCF2L_uc001vsq.3_Silent_p.T196T|MCF2L_uc010tjr.2_Silent_p.T139T|MCF2L_uc001vsr.3_Silent_p.T143T|MCF2L_uc001vss.4_Silent_p.T137T|MCF2L_uc010tjs.2_Silent_p.T137T|MCF2L_uc001vst.1_Silent_p.T101T	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	169	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TTCGCCCGACGGGTTTTTTCC	0.572000														9			18		0	0	0.000958276	0	0
GFRAL	389400	broad.mit.edu	37	6	55216368	55216368	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:55216368G>A	uc003pcm.1	+	4	774	c.688G>A	c.(688-690)Gat>Aat	p.D230N		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	230						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGCCAAAATGATGAATTATG	0.423000														36			11		0	0	0.000978159	0	0
ZNF610	162963	broad.mit.edu	37	19	52869803	52869803	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:52869803T>A	uc002pyx.4	+	5	1578	c.1172T>A	c.(1171-1173)cTt>cAt	p.L391H	ZNF610_uc002pyy.4_Missense_Mutation_p.L391H|ZNF610_uc002pyz.4_Missense_Mutation_p.L348H|ZNF610_uc002pza.3_Missense_Mutation_p.L391H	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H390N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ATGGCCCATCTTCTAATCCAT	0.413000														35			17		0	0	0.00074312	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140769813	140769813	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140769813C>T	uc003lkc.2	+	0	2362	c.2362C>T	c.(2362-2364)Cca>Tca	p.P788S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	810					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTTATTTCCACTTTGTAA	0.383000														118			46		0	0	0.000680045	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20484026	20484026	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:20484026G>A	uc002wrz.3	-	34	5320	c.5177C>T	c.(5176-5178)cCg>cTg	p.P1726L	RALGAPA2_uc002wry.3_Missense_Mutation_p.P1341L|RALGAPA2_uc010zsg.2_Missense_Mutation_p.P1174L|RALGAPA2_uc002wsa.1_Missense_Mutation_p.P498L	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1726	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity	p.M1725T(1)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGAGTCTGACGGCATTCGAGT	0.537000														45			20		0	0	0.000295444	0	0
STON2	85439	broad.mit.edu	37	14	81837403	81837403	+	Missense_Mutation	SNP	G	A	A	rs146988761	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:81837403G>A	uc010tvu.2	-	2	698	c.500C>T	c.(499-501)tCg>tTg	p.S167L	STON2_uc001xvk.1_Missense_Mutation_p.S167L	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	167					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATCTGTATACGAACATCCAAA	0.542000														64			46		0	0	0.000781405	0	0
PID1	55022	broad.mit.edu	37	2	229890452	229890452	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:229890452C>T	uc002vpr.4	-	2	687	c.649G>A	c.(649-651)Gag>Aag	p.E217K	PID1_uc002vps.4_Missense_Mutation_p.E215K|PID1_uc002vpt.4_Missense_Mutation_p.E184K|PID1_uc002vpu.4_Missense_Mutation_p.E135K	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	217	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CTGAAGGCCTCCATCATGGCG	0.562000														50			32		0	0	0.000491102	0	0
GABRG2	2566	broad.mit.edu	37	5	161569269	161569269	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:161569269C>T	uc010jjc.3	+	7	1347	c.989C>T	c.(988-990)tCc>tTc	p.S330F	GABRG2_uc003lyy.4_Missense_Mutation_p.S290F|GABRG2_uc003lyz.4_Missense_Mutation_p.S290F|GABRG2_uc011dej.2_Missense_Mutation_p.S195F	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	290					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GTCGTCCTATCCTGGGTGTCT	0.428000														38			31		0	0	0.001512	0	0
MB21D1	115004	broad.mit.edu	37	6	74155359	74155359	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:74155359G>A	uc003pgx.1	-	1	908	c.769C>T	c.(769-771)Ccg>Tcg	p.P257S		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	Homo sapiens Mab-21 domain containing 1 (MB21D1), mRNA.	257										central_nervous_system(1)|large_intestine(4)|lung(1)	6						TTTTCTTTCGGATTTCTTTTA	0.313000														39			32		0	0	0.000339439	0	0
POM121	9883	broad.mit.edu	37	7	72413513	72413513	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:72413513C>T	uc003twk.2	+	10	2981	c.2981C>T	c.(2980-2982)tCt>tTt	p.S994F	POM121_uc003twj.3_Missense_Mutation_p.S729F|POM121_uc010lam.1_Missense_Mutation_p.S729F	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	994	Pore side (Potential).				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)				TTTGGCAGCTCTTTCACTTTT	0.657000														99			25		0	0	0.00106085	0	0
DNM3	26052	broad.mit.edu	37	1	172007556	172007556	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:172007556A>T	uc001gie.3	+	6	1123	c.947A>T	c.(946-948)aAt>aTt	p.N316I	DNM3_uc001gid.4_Missense_Mutation_p.N316I|DNM3_uc009wwb.2_Missense_Mutation_p.N316I|DNM3_uc001gif.3_Missense_Mutation_p.N316I	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	316					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	p.K315R(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCCTACAAAAATTTCAAACCA	0.413000														70			44		0	0	0.000781405	0	0
MEGF6	1953	broad.mit.edu	37	1	3412483	3412483	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:3412483G>A	uc001akl.3	-	29	4069	c.3842C>T	c.(3841-3843)cCg>cTg	p.P1281L	MEGF6_uc001akk.3_Missense_Mutation_p.P1046L	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	1281	EGF-like 23.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGCTCTCCCCGGGGGGCAGAG	0.687000														12			4		0	0	0.00024832	0	0
TEX14	56155	broad.mit.edu	37	17	56664997	56664997	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:56664997G>A	uc010dcz.2	-	16	2869	c.2751C>T	c.(2749-2751)atC>atT	p.I917I	TEX14_uc002iwr.2_Silent_p.I911I|TEX14_uc002iws.2_Silent_p.I911I|TEX14_uc010dda.2_Silent_p.I691I	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	917						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCATTATAGATTTCAGAAG	0.383000											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			22		0	0	0.000375601	0	0
ALPP	250	broad.mit.edu	37	2	233244608	233244608	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:233244608G>A	uc002vsq.3	+	4	784	c.619G>A	c.(619-621)Gac>Aac	p.D207N		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	207						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGGTGCCAGGACATCGCTAC	0.682000														39			13		0	0	0.000151284	0	0
KRT15	3866	broad.mit.edu	37	17	39672221	39672221	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:39672221C>T	uc002hwy.3	-	4	1133	c.942G>A	c.(940-942)atG>atA	p.M314I	KRT15_uc002hwz.3_Missense_Mutation_p.M216I|KRT15_uc002hxa.3_Missense_Mutation_p.M149I|KRT15_uc002hxb.1_Missense_Mutation_p.M149I	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	314	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TGGTCTGGATCATTTCTGTGT	0.592000														110			46		0	0	0.000781405	0	0
TMEM63B	55362	broad.mit.edu	37	6	44120422	44120422	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:44120422C>T	uc003owr.3	+	19	1993	c.1929C>T	c.(1927-1929)atC>atT	p.I643I	TMEM63B_uc003ows.3_Silent_p.I546I|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	643						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCTGCCCCATCATCGTGCCCT	0.647000											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			17		0	0	0.00121646	0	0
HCN2	610	broad.mit.edu	37	19	614009	614010	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:614009_614010CC>TT	uc002lpe.3	+	6	2036_2037	c.1983_1984CC>TT	c.(1981-1986)gaccgc>gaTTgc	p.R662C		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	662					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGCCTGGACCGCATCGGTGA	0.708000														14			5		0	0	6.4e-05	0	0
HDAC9	9734	broad.mit.edu	37	7	18705909	18705909	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:18705909G>A	uc003sui.3	+	10	1582	c.1541G>A	c.(1540-1542)gGg>gAg	p.G514E	HDAC9_uc003sue.3_Missense_Mutation_p.G511E|HDAC9_uc011jyd.2_Missense_Mutation_p.G511E|HDAC9_uc003suh.3_Missense_Mutation_p.G511E|HDAC9_uc003suj.3_Missense_Mutation_p.G470E|HDAC9_uc011jya.2_Missense_Mutation_p.G509E|HDAC9_uc003sua.1_Missense_Mutation_p.G489E|HDAC9_uc003sud.2_Missense_Mutation_p.G511E|HDAC9_uc011jyc.2_Missense_Mutation_p.G470E|HDAC9_uc011jyb.2_Missense_Mutation_p.G467E|HDAC9_uc003suf.2_Missense_Mutation_p.G542E|HDAC9_uc010kud.2_Missense_Mutation_p.G514E|HDAC9_uc011jye.2_Missense_Mutation_p.G483E|HDAC9_uc011jyf.2_Missense_Mutation_p.G434E|HDAC9_uc010kue.1_Intron	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	511					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAGCTTCAGGGGGACCAGGCG	0.532000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		100			31		0	0	0.000409698	0	0
NGLY1	55768	broad.mit.edu	37	3	25781072	25781072	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:25781072G>A	uc003cdl.3	-	4	985	c.877C>T	c.(877-879)Cca>Tca	p.P293S	NGLY1_uc010hfg.3_Missense_Mutation_p.P293S|NGLY1_uc003cdm.3_Missense_Mutation_p.P293S|NGLY1_uc011awo.2_Missense_Mutation_p.P251S|NGLY1_uc003cdk.3_Intron	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.	293					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ACCCACCTTGGGAATCGATTG	0.378000														52			25		0	0	0.00047179	0	0
SLIT2	9353	broad.mit.edu	37	4	20598053	20598053	+	Missense_Mutation	SNP	G	C	C	rs151150739	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:20598053G>C	uc003gpr.1	+	31	3540	c.3336G>C	c.(3334-3336)gaG>gaC	p.E1112D	SLIT2_uc003gps.1_Missense_Mutation_p.E1104D	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1112	EGF-like 5; calcium-binding (Potential).				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.C1111G(1)|p.E1112*(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGTTCTGTGAGTTTTCTCCAC	0.378000														69			26		0	0	0.00058488	0	0
KRT85	3891	broad.mit.edu	37	12	52760976	52760977	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:52760976_52760977GG>AA	uc001sag.3	-	0	333_334	c.213_214CC>TT	c.(211-216)ttccga>ttTTga	p.R72*		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	72	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGCCGGCTCGGAAGCCACCTA	0.698000														21			12		0	0	6.4e-05	0	0
TTLL7	79739	broad.mit.edu	37	1	84408234	84408234	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:84408234G>A	uc001djc.3	-	6	1031	c.635C>T	c.(634-636)tCg>tTg	p.S212L	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Intron|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	212	TTL.				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)		TGGATCACACGATGTAACCAG	0.373000														39			22		0	0	0.000375601	0	0
MYO7B	4648	broad.mit.edu	37	2	128367259	128367259	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:128367259T>C	uc002top.3	+	22	3046	c.2993T>C	c.(2992-2994)tTg>tCg	p.L998S		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	998	MyTH4 1.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity	p.P997Q(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGATACCCGTTGCTTTACCAC	0.587000														61			29		0	0	0.00148497	0	0
ATCAY	85300	broad.mit.edu	37	19	3905499	3905499	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:3905499C>T	uc010xhz.2	+	4	705	c.222C>T	c.(220-222)atC>atT	p.I74I	ATCAY_uc002lyy.4_Silent_p.I68I			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	68					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCCAGAGATCAACATTTCTC	0.507000														7			10		0	0	0.000442599	0	0
DNAH8	1769	broad.mit.edu	37	6	38843575	38843576	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:38843575_38843576CC>TT	uc021yzh.1	+	52	7938_7939	c.7829_7830CC>TT	c.(7828-7830)acc>aTT	p.T2610I	DNAH8_uc003ooe.2_Missense_Mutation_p.T2393I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.I2609S(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAAATCAAACCATGTATGAGT	0.356000														35			15		0	0	6.4e-05	0	0
ZNF816	125893	broad.mit.edu	37	19	53454809	53454809	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:53454809G>A	uc002qal.2	-	4	570	c.219C>T	c.(217-219)ttC>ttT	p.F73F	ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Silent_p.F73F|ZNF816_uc002qam.2_Silent_p.F73F	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TGGTTGATGAGAACTCCATCA	0.353000														52			36		0	0	0.00128727	0	0
TP63	8626	broad.mit.edu	37	3	189612028	189612028	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:189612028C>T	uc003fry.2	+	13	1869	c.1780C>T	c.(1780-1782)Cga>Tga	p.R594*	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Nonsense_Mutation_p.R500*|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Nonsense_Mutation_p.R415*	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	594	SAM.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R594*(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGAGCAATTTCGACATGCGAT	0.532000										HNSCC(45;0.13)				37			26		0	0	0.00127121	0	0
SLC15A2	6565	broad.mit.edu	37	3	121649724	121649724	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:121649724C>T	uc003eep.2	+	17	1744	c.1591C>T	c.(1591-1593)Ctg>Ttg	p.L531L	SLC15A2_uc011bjn.1_Silent_p.L500L	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	531					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CAACATCTCCCTGAGTACAGA	0.403000														28			27		0	0	0.000409698	0	0
KLRC2	3822	broad.mit.edu	37	12	10569321	10569321	+	Missense_Mutation	SNP	G	A	A	rs138941727		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:10569321G>A	uc001qyi.1	-	4	577	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	KLRC2_uc001qyf.3_Missense_Mutation_p.R178C|KLRC2_uc021qvc.1_Missense_Mutation_p.R178C|KLRC2_uc001qyh.3_Missense_Mutation_p.R178C|KLRC2_uc021qvd.1_Missense_Mutation_p.R178C	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	177	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.R178C(1)		kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						CTGCTGTTACGAAACACACCA	0.294000														30			19		0	0	0.000339439	0	0
OSBPL7	114881	broad.mit.edu	37	17	45885931	45885931	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:45885931T>C	uc002ilx.1	-	21	2596	c.2393A>G	c.(2392-2394)aAc>aGc	p.N798S	OSBPL7_uc002ilw.1_Missense_Mutation_p.N360S	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	798					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GTGTACGATGTTGTTTTCCTC	0.627000														104			73		0	0	0.000781405	0	0
FAM20A	54757	broad.mit.edu	37	17	66533797	66533797	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:66533797C>T	uc002jho.3	-	10	1735	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	FAM20A_uc010wqp.2_Missense_Mutation_p.E345K|FAM20A_uc002jhn.3_Missense_Mutation_p.E194K	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	483						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					AGCTGGTCTTCCAGCAGTGAT	0.527000														10			9		0	0	0.000274275	0	0
SVEP1	79987	broad.mit.edu	37	9	113192603	113192603	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:113192603G>A	uc010mtz.3	-	32	5818	c.5481C>T	c.(5479-5481)atC>atT	p.I1827I	SVEP1_uc010mty.3_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1827	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCAAACATGTGATTTTGGTTA	0.398000														6			10		0	0	0.000978159	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26108317	26108317	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:26108317G>A	uc003ngj.3	-	0	48	c.5C>T	c.(4-6)tCt>tTt	p.S2F		NM_005323	NP_005314	P22492	H1T_HUMAN	Homo sapiens histone cluster 1, H1t (HIST1H1T), mRNA.	2					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CACGGTTTCAGACATAACAAC	0.542000														26			11		0	0	0.00136819	0	0
WAS	7454	broad.mit.edu	37	X	48542280	48542280	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:48542280G>A	uc004dkm.4	+	0	95	c.38G>A	c.(37-39)cGa>cAa	p.R13Q		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	13					T cell receptor signaling pathway|blood coagulation|defense response|epidermis development|immune response	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	p.G12fs*33(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCCGGGGGCCGAGGAGCACCA	0.597000			"""Mis, N, F, S"""			lymphoma								30			14		0	0	0.000308642	0	0
ABCC6	368	broad.mit.edu	37	16	16284138	16284138	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:16284138C>T	uc002den.4	-	11	1555	c.1518G>A	c.(1516-1518)tgG>tgA	p.W506*	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Nonsense_Mutation_p.W518*	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	506	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.W506*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGGCTCCCTCCCAGCCATGGA	0.622000														32			23		0	0	0.00047179	0	0
ZPBP	11055	broad.mit.edu	37	7	50070802	50070802	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:50070802A>T	uc003tou.3	-	4	662	c.592T>A	c.(592-594)Tta>Ata	p.L198I	ZPBP_uc010kyw.3_Missense_Mutation_p.L197I	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	198					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AGTTTGCTTAAAATCTGAAGA	0.353000														96			47		0	0	0.000781405	0	0
RFX4	5992	broad.mit.edu	37	12	107126816	107126816	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:107126816C>T	uc001tlt.3	+	14	1753	c.1613C>T	c.(1612-1614)tCc>tTc	p.S538F	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.S529F|RFX4_uc001tls.3_Missense_Mutation_p.S538F|RFX4_uc001tlv.3_Missense_Mutation_p.S435F	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	529					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CCTCCCTCTTCCCCTGTTAGC	0.498000														63			41		0	0	0.000680045	0	0
DNAH17	8632	broad.mit.edu	37	17	76449483	76449483	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:76449483C>T	uc010dhp.2	-	64	10596	c.10471G>A	c.(10471-10473)Gaa>Aaa	p.E3491K	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.E3486K(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCACGGTTTCGCCGATGTTC	0.562000														14			7		0	0	8.12818e-05	0	0
DEC1	50514	broad.mit.edu	37	9	118162656	118162656	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:118162656G>A	uc004bjk.1	+	5	551	c.32G>A	c.(31-33)tGg>tAg	p.W11*	DEC1_uc004bjl.1_Intron	NM_017418	NP_059114	Q9P2X7	DEC1_HUMAN	Homo sapiens deleted in esophageal cancer 1 (DEC1), mRNA.	11					negative regulation of cell proliferation					kidney(1)|large_intestine(1)|ovary(1)	3						gctgggaagtggaagagcatt	0.438000														16			20		0	0	0.00152264	0	0
MUC16	94025	broad.mit.edu	37	19	9045944	9045944	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9045944G>A	uc002mkp.3	-	4	35891	c.35687C>T	c.(35686-35688)tCc>tTc	p.S11896F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11898	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						GACAGCAGGGGAAACAGTCAG	0.488000														69			34		0	0	0.00058488	0	0
ABR	29	broad.mit.edu	37	17	914039	914039	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:914039C>T	uc002fsd.3	-	19	2276	c.2166G>A	c.(2164-2166)aaG>aaA	p.K722K	ABR_uc002fse.3_Silent_p.K676K|ABR_uc010vqf.2_Silent_p.K173K|ABR_uc010vqg.2_Silent_p.K504K|ABR_uc002fsg.3_Silent_p.K685K|ABR_uc002fsh.1_Silent_p.K330K|ABR_uc002fsf.3_Silent_p.K259K	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	722	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGAAGTACAGCTTGAGCGTCC	0.627000														45			25		0	0	0.000375601	0	0
ZFHX3	463	broad.mit.edu	37	16	72827786	72827786	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:72827786C>T	uc002fck.3	-	8	9468	c.8795G>A	c.(8794-8796)gGa>gAa	p.G2932E	ZFHX3_uc002fcl.3_Missense_Mutation_p.G2018E	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2932					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)				GCCTGCAGATCCACTCGCACC	0.512000														41			31		0	0	0.00111076	0	0
ZNF146	7705	broad.mit.edu	37	19	36728168	36728168	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:36728168G>A	uc002odq.4	+	3	2349	c.826G>A	c.(826-828)Gct>Act	p.A276T	ZNF146_uc010eet.3_Missense_Mutation_p.A276T|ZNF146_uc010eeu.3_Missense_Mutation_p.A276T|ZNF146_uc021ute.1_Missense_Mutation_p.A276T	NM_007145	NP_009076	Q15072	OZF_HUMAN	Homo sapiens zinc finger protein 146 (ZNF146), transcript variant 1, mRNA.	276	Interaction with TERF2IP.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					ATGTGGGAAAGCTTTCAGCCA	0.403000														33			15		0	0	0.000219431	0	0
FAM135B	51059	broad.mit.edu	37	8	139165229	139165229	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:139165229C>T	uc003yuy.3	-	12	1660	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	FAM135B_uc003yux.3_Missense_Mutation_p.E398K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E59K|FAM135B_uc003yvb.3_Missense_Mutation_p.E59K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	497										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCTGAGATTCAGAGCACATG	0.418000										HNSCC(54;0.14)				58			42		0	0	0.00128727	0	0
MAST3	23031	broad.mit.edu	37	19	18233516	18233517	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:18233516_18233517CC>TA	uc002nhz.4	+	4	267_268	c.267_268CC>TA	c.(265-270)ctccca>ctTAca	p.P90T		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	90							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCGCGTCTCTCCCATCTTCCGG	0.609000														7			4		0	0	6.4e-05	0	0
FHL1	2273	broad.mit.edu	37	X	135288748	135288748	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:135288748G>A	uc004ezo.3	+	3	485	c.156_splice	c.e3+1	p.K52_splice	FHL1_uc010nrz.2_Splice_Site_p.K52_splice|FHL1_uc004ezq.2_Splice_Site_p.K52_splice|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Splice_Site_p.K52_splice|FHL1_uc011mvy.1_Splice_Site_p.K52_splice|FHL1_uc004ezn.2_Splice_Site_p.K52_splice|FHL1_uc022ceu.1_Splice_Site_p.K52_splice|FHL1_uc011mwa.1_Splice_Site_p.K81_splice|FHL1_uc011mwb.1_Splice_Site|FHL1_uc004ezp.2_Splice_Site_p.K68_splice|FHL1_uc004ezr.2_5'Flank	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 1, mRNA.	52	LIM zinc-binding 1.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GGACTCCAAGGTAACGGGCAT	0.557000														71			40		0	0	0.000589545	0	0
KIAA1644	85352	broad.mit.edu	37	22	44692610	44692610	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:44692610C>T	uc003bet.2	-	2	356	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	75						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GCCTGGAACTCCGTCTCGTTG	0.592000														34			134		0	0	0.000781405	0	0
FOXN3	1112	broad.mit.edu	37	14	89878430	89878430	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:89878430G>A	uc001xxo.4	-	1	528	c.391C>T	c.(391-393)Cca>Tca	p.P131S	FOXN3_uc001xxn.4_Missense_Mutation_p.P131S|FOXN3_uc010atk.3_Missense_Mutation_p.P131S|FOXN3_uc001xxp.2_Missense_Mutation_p.P131S	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	131					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGCTTGGTTGGAGAGTCCTCG	0.512000														78			31		0	0	0.00178596	0	0
ZCCHC17	51538	broad.mit.edu	37	1	31811831	31811831	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:31811831C>T	uc001bsp.1	+	4	389	c.253C>T	c.(253-255)Ctc>Ttc	p.L85F	ZCCHC17_uc001bsq.1_Missense_Mutation_p.L77F|ZCCHC17_uc010ogf.1_Missense_Mutation_p.L61F|ZCCHC17_uc009vtu.1_Missense_Mutation_p.L61F|ZCCHC17_uc001bsr.1_Missense_Mutation_p.L85F|ZCCHC17_uc009vtv.1_Missense_Mutation_p.L61F	NM_016505	NP_057589	Q9NP64	NO40_HUMAN	Homo sapiens zinc finger, CCHC domain containing 17 (ZCCHC17), mRNA.	85	S1 motif.					nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		AAAAGTATCCCTCTCCATGAA	0.343000														36			17		0	0	0.00121646	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41019062	41019062	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:41019062G>A	uc003jmj.4	-	24	2990	c.2500C>T	c.(2500-2502)Cgg>Tgg	p.R834W	HEATR7B2_uc003jmi.4_Missense_Mutation_p.R389W	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	834							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGCAGCCTCCGAATATTCTCC	0.463000														35			10		0	0	0.000673444	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623432	21623432	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:21623432G>A	uc010tlp.2	-	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CAGCAAAAATGAAGAGCAGGA	0.488000														28			21		0	0	0.000295444	0	0
COL4A3	1285	broad.mit.edu	37	2	228155586	228155586	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:228155586G>A	uc002vom.2	+	36	3356	c.3194G>A	c.(3193-3195)gGa>gAa	p.G1065E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1065	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ACAAGGCCAGGACCACCGGGA	0.498000														11			7		0	0	8.12818e-05	0	0
PHF7	51533	broad.mit.edu	37	3	52457136	52457136	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:52457136C>T	uc003ddy.3	+	10	1755	c.949C>T	c.(949-951)Cct>Tct	p.P317S	PHF7_uc003ddz.3_Missense_Mutation_p.P278S	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA.	317						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AGGGGACATCCCTTGCTGCAG	0.527000														60			26		0	0	0.00106085	0	0
ZNF429	353088	broad.mit.edu	37	19	21720483	21720483	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:21720483G>C	uc002nqd.1	+	3	1765	c.1628G>C	c.(1627-1629)gGc>gCc	p.G543A	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GAAGAATGTGGCAAAGCTTTT	0.363000														25			3		0	0	6.4e-05	0	0
CDH17	1015	broad.mit.edu	37	8	95183151	95183151	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:95183151G>A	uc003ygh.2	-	7	971	c.846C>T	c.(844-846)ttC>ttT	p.F282F	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.F282F	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	282	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTGAAAATGGGAATCTTGGCA	0.463000														82			48		0	0	0.000781405	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767758	77767758	+	Silent	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:77767758T>A	uc003yau.2	+	9	8988	c.8601T>A	c.(8599-8601)tcT>tcA	p.S2867S	ZFHX4_uc003yaw.1_Silent_p.S2822S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2822						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCTCTTTTCTCTCACAAGCC	0.493000										HNSCC(33;0.089)				27			13		0	0	0.000308642	0	0
UMODL1	89766	broad.mit.edu	37	21	43531574	43531574	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:43531574C>T	uc002zag.1	+	10	2242	c.2242C>T	c.(2242-2244)Cct>Tct	p.P748S	UMODL1_uc002zad.1_Intron|UMODL1_uc002zae.1_Missense_Mutation_p.P676S|UMODL1_uc002zaf.1_Intron|C21orf128_uc002zak.2_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	681	Fibronectin type-III 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCACAGCTTCCCTCCTGGGGC	0.647000														27			8		0	0	0.000274275	0	0
TRANK1	9881	broad.mit.edu	37	3	36872412	36872412	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:36872412C>T	uc003cgj.3	-	20	8778	c.8530G>A	c.(8530-8532)Gtt>Att	p.V2844I		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2844					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATATCCGAAACCCTCTTGATG	0.602000														48			34		0	0	0.000339439	0	0
APOB	338	broad.mit.edu	37	2	21231221	21231221	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:21231221C>A	uc002red.3	-	25	8647	c.8519G>T	c.(8518-8520)gGg>gTg	p.G2840V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2840					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)	CATTTCACTCCCATGCTCCGT	0.418000														580			10		0.000442599	0.00246386	0.000442599	1	0
RFTN1	23180	broad.mit.edu	37	3	16411787	16411787	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:16411787C>T	uc003cay.3	-	6	1109	c.827_splice	c.e6-1	p.K276_splice	RFTN1_uc010hes.3_Splice_Site_p.K240_splice	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	276						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						ATCTCCATTTCTGTTGGGATT	0.448000														45			73		0	0	0.000781405	0	0
SPAG17	200162	broad.mit.edu	37	1	118644447	118644447	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:118644447C>T	uc001ehk.2	-	4	618	c.550G>A	c.(550-552)Gat>Aat	p.D184N		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	184	Lys-rich.					cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCAGGCTGATCCTTTCCCTTT	0.463000														83			50		0	0	0.000781405	0	0
ARAP1	116985	broad.mit.edu	37	11	72422129	72422129	+	Missense_Mutation	SNP	C	A	A	rs140120181		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:72422129C>A	uc001osu.3	-	8	1339	c.1150G>T	c.(1150-1152)Ggg>Tgg	p.G384W	ARAP1_uc001osv.3_Missense_Mutation_p.G384W|ARAP1_uc001osr.3_Missense_Mutation_p.G144W|ARAP1_uc001oss.3_Missense_Mutation_p.G139W|ARAP1_uc009yth.3_Missense_Mutation_p.G139W|ARAP1_uc010rre.2_Missense_Mutation_p.G139W	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	384	PH 1.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TTCTGGTCCCCGATGGCAGCC	0.542000														233			7		0.000673444	0.00374603	0.000673444	1	0
EPHA6	285220	broad.mit.edu	37	3	96706601	96706601	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:96706601C>T	uc010how.1	+	2	921	c.878C>T	c.(877-879)tCa>tTa	p.S293L	EPHA6_uc003drp.1_Missense_Mutation_p.S293L	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	198						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GCCCTGGTTTCAGTCCGTGTT	0.448000														138			97		0	0	0.000781405	0	0
C3orf15	89876	broad.mit.edu	37	3	119462887	119462887	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:119462887C>T	uc003ede.4	+	13	1823	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	C3orf15_uc010hqz.3_Silent_p.F520F|C3orf15_uc011bjd.2_Silent_p.F456F|C3orf15_uc011bje.2_Silent_p.F562F	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	418						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		TGTTTGACTTCCTGTCCAAAG	0.507000														42			19		0	0	0.00121646	0	0
PASK	23178	broad.mit.edu	37	2	242075323	242075323	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:242075323G>A	uc002wao.2	-	7	1402	c.1269C>T	c.(1267-1269)gaC>gaT	p.D423D	PASK_uc010zol.2_Silent_p.D237D|PASK_uc010zom.2_Silent_p.D388D|PASK_uc010fzl.2_Silent_p.D423D|PASK_uc010zon.2_Silent_p.D204D|PASK_uc021vzf.1_Silent_p.D423D|PASK_uc002wap.3_5'Flank|PASK_uc002waq.3_Silent_p.D423D	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	423					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCTGCCACGGGTCCAAGGTTC	0.627000														52			38		0	0	0.00111076	0	0
WDR6	11180	broad.mit.edu	37	3	49051357	49051357	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:49051357G>A	uc003cvj.2	+	1	2618	c.2480G>A	c.(2479-2481)gGc>gAc	p.G827D	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Missense_Mutation_p.G275D|WDR6_uc010hkn.2_Missense_Mutation_p.G771D|WDR6_uc011bbz.1_Missense_Mutation_p.G746D	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	797					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCTCAGCCAGGCCTGACTGCC	0.642000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			14		0	0	0.000219431	0	0
FAM71B	153745	broad.mit.edu	37	5	156593103	156593105	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:156593103_156593105CC>AA	uc003lwn.3	-	0	175_177	c.75_77GG>TT	c.(73-78)atgggg>atTTg	p.25_26MG>I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	25						nucleus		p.M25I(2)|p.S24P(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGCAGGTCCCCCATGGAGGTTT	0.409000														512			12		0	0	6.4e-05	0	0
EML5	161436	broad.mit.edu	37	14	89206850	89206850	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:89206850G>A	uc021ryf.1	-	4	841	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	EML5_uc021ryg.1_Nonsense_Mutation_p.Q198*	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	198						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGTATTGTCTGAAGGTCACCC	0.393000														94			52		0	0	0.000781405	0	0
PAN2	9924	broad.mit.edu	37	12	56715907	56715907	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:56715907G>A	uc001skx.3	-	19	3132	c.2755C>T	c.(2755-2757)Ctt>Ttt	p.L919F	PAN2_uc001skw.3_Missense_Mutation_p.L67F|PAN2_uc001sky.3_Missense_Mutation_p.L915F|PAN2_uc001skz.3_Missense_Mutation_p.L918F	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	919					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACATAATAAAGGATTGCAGGT	0.403000														77			48		0	0	0.000781405	0	0
GLCCI1	113263	broad.mit.edu	37	7	8125850	8125850	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:8125850C>T	uc003srk.3	+	7	1885	c.1326C>T	c.(1324-1326)ctC>ctT	p.L442L		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	442										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)		CGGCCCCTCTCTTTTCATGTC	0.393000														222			64		0	0	0.000781405	0	0
A2ML1	144568	broad.mit.edu	37	12	8982357	8982357	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:8982357C>T	uc001quz.4	+	3	542	c.444C>T	c.(442-444)ttC>ttT	p.F148F		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	0						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						ATAGCAACTTCGTTCCAGTGA	0.458000														71			43		0	0	0.000680045	0	0
GNAI2	2771	broad.mit.edu	37	3	50294242	50294242	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:50294242C>T	uc003cyq.1	+	5	802	c.681C>T	c.(679-681)gcC>gcT	p.A227A	GNAI2_uc003cyo.1_Silent_p.A211A|GNAI2_uc003cyp.1_Silent_p.A211A|GNAI2_uc010hlg.1_Silent_p.A146A|GNAI2_uc011bdn.2_Silent_p.A190A|GNAI2_uc003cyr.1_Silent_p.A146A	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	227					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TCTGCGTAGCCTTGAGCGCCT	0.572000														32			30		0	0	0.001512	0	0
TSPEAR	54084	broad.mit.edu	37	21	45929219	45929219	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:45929219G>A	uc002zfe.1	-	9	1683	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	TSPEAR_uc010gpv.1_Silent_p.F471F	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	539					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCACAGCGAGGAAGATCCTCT	0.572000														9			4		0	0	0.00024832	0	0
EFTUD1	79631	broad.mit.edu	37	15	82456243	82456243	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:82456243G>A	uc002bgt.1	-	15	2002	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	EFTUD1_uc002bgu.1_Silent_p.N560N	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	611					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGGCTTCGAAGTTGAGTGGTA	0.388000														32			12		0	0	0.000219431	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147380	26147380	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:26147380C>T	uc002dof.3	+	1	1574	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	394					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCAAGGGGTTCCCTTGCCTAA	0.512000														11			14		0	0	0.000219431	0	0
TBX20	57057	broad.mit.edu	37	7	35244129	35244129	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:35244129C>T	uc011kas.2	-	6	1436	c.956G>A	c.(955-957)gGa>gAa	p.G319E		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	319						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						ATCTTCTTCTCCTCCGTAGGT	0.483000														35			14		0	0	0.000566183	0	0
OR2T4	127074	broad.mit.edu	37	1	248525707	248525707	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:248525707C>T	uc001ieh.1	+	0	825	c.825C>T	c.(823-825)tcC>tcT	p.S275S		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CCTGCTCCTCCCACCTGACTG	0.537000														116			41		0	0	0.000509022	0	0
PTGIR	5739	broad.mit.edu	37	19	47124806	47124806	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:47124806C>T	uc002pex.3	-	2	1005	c.892G>A	c.(892-894)Gct>Act	p.A298T		NM_000960	NP_000951	P43119	PI2R_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) receptor (IP) (PTGIR), mRNA.	298					G-protein signaling, coupled to cyclic nucleotide second messenger|cell-cell signaling|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	TGGAAGACAGCCTTGCGGAAA	0.637000														35			30		0	0	0.00178596	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135862953	135862953	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:135862953A>C	uc004fab.3	-	0	551	c.89T>G	c.(88-90)tTt>tGt	p.F30C		NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	30	CH.				JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GGACTTTAAAAACTCCTCCGG	0.433000														104			56		0	0	0.000781405	0	0
OR2T3	343173	broad.mit.edu	37	1	248637593	248637593	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:248637593G>A	uc001iel.1	+	0	942	c.942G>A	c.(940-942)atG>atA	p.M314I		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R313R(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGTCAAGAATGAACCAAGAAA	0.488000														304			37		0	0	0.00170553	0	0
TEP1	7011	broad.mit.edu	37	14	20856088	20856088	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:20856088G>A	uc001vxe.3	-	17	2700	c.2660C>T	c.(2659-2661)cCc>cTc	p.P887L	TEP1_uc010ahk.3_Missense_Mutation_p.P237L|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.P779L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	887					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGGAGCCAAGGGGCTTGGAGT	0.532000														48			23		0	0	0.000878237	0	0
ARGFX	503582	broad.mit.edu	37	3	121304901	121304901	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:121304901G>A	uc003eef.3	+	4	497	c.402G>A	c.(400-402)aaG>aaA	p.K134K		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	134						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K134N(2)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TCAAATTGAAGAAGCAGCAGC	0.517000														31			14		0	0	0.000566183	0	0
NEK7	140609	broad.mit.edu	37	1	198247118	198247118	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:198247118C>T	uc001gun.4	+	5	727	c.400C>T	c.(400-402)Cct>Tct	p.P134S	NEK7_uc021pgx.1_Missense_Mutation_p.P134S	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA.	134	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P134S(2)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						GAGGCTAATTCCTGAAAGAAC	0.318000														94			37		0	0	0.000953801	0	0
FTHL17	53940	broad.mit.edu	37	X	31089734	31089734	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:31089734G>A	uc004dcl.1	-	0	437	c.337C>T	c.(337-339)Cag>Tag	p.Q113*		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	113	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.Q113H(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGCAGGCTCTGGTTGACGTTC	0.607000														36			24		0	0	0.000878237	0	0
MGAT5B	146664	broad.mit.edu	37	17	74942495	74942495	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:74942495G>A	uc002jti.3	+	13	2016	c.1913G>A	c.(1912-1914)gGg>gAg	p.G638E	MGAT5B_uc002jth.3_Missense_Mutation_p.G627E|MGAT5B_uc002jtj.3_Missense_Mutation_p.G34E	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	629						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCTGCGAGGGGATGCTGGAG	0.662000														21			7		0	0	0.000442599	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010865	59010865	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:59010865G>A	uc002qtc.2	-	6	1771	c.1661C>T	c.(1660-1662)aCc>aTc	p.T554I	SLC27A5_uc002qtb.3_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGACCGGAAGGTGTCCCCGAG	0.657000														25			19		0	0	0.000375601	0	0
SLC26A3	1811	broad.mit.edu	37	7	107434305	107434305	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:107434305C>T	uc003ver.2	-	2	364	c.153G>A	c.(151-153)aaG>aaA	p.K51K	SLC26A3_uc003ves.2_Intron	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	51					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.K51K(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GGACAATTCTCTTGGCCTTTT	0.423000														33			37		0	0	0.00111076	0	0
FAM47A	158724	broad.mit.edu	37	X	34148503	34148503	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:34148503A>T	uc004ddg.3	-	0	1945	c.1893T>A	c.(1891-1893)ttT>ttA	p.F631L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	631										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						ACTTGGGGGTAAAGTCAAACA	0.438000														43			30		0	0	0.001512	0	0
AGBL2	79841	broad.mit.edu	37	11	47736196	47736196	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:47736196G>T	uc001ngg.3	-	1	309	c.7C>A	c.(7-9)Cca>Aca	p.P3T	AGBL2_uc010rhq.1_Missense_Mutation_p.P3T|AGBL2_uc001ngh.1_Missense_Mutation_p.P3T	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	3					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TCCAAAGCTGGGAACATGTTA	0.463000														50			66		5.61366e-43	3.17403e-42	0.000781405	1	0
SPTB	6710	broad.mit.edu	37	14	65259726	65259726	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:65259726G>A	uc001xht.3	-	12	2706	c.2655C>T	c.(2653-2655)gtC>gtT	p.V885V	SPTB_uc001xhr.3_Silent_p.V885V|SPTB_uc001xhs.3_Silent_p.V885V|SPTB_uc001xhu.3_Silent_p.V885V	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	885					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTGCTGCACGACCTCCAGGT	0.572000														27			11		0	0	0.000151284	0	0
LRCH2	57631	broad.mit.edu	37	X	114422878	114422878	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:114422878G>A	uc010nqe.3	-	1	436	c.405C>T	c.(403-405)ccC>ccT	p.P135P	LRCH2_uc004epz.3_Silent_p.P135P|RBMXL3_uc011mte.1_5'Flank	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 2 (LRCH2), transcript variant 1, mRNA.	135										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						ATGTTTCAAGGGGTGCAAATA	0.308000														17			15		0	0	0.000566183	0	0
TRIM24	8805	broad.mit.edu	37	7	138262304	138262304	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:138262304G>A	uc003vuc.3	+	13	2442	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K	TRIM24_uc003vub.3_Missense_Mutation_p.E709K	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	743					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGTGAAGCAAGAATCAGATGA	0.393000														90			16		0	0	0.000958276	0	0
VANGL2	57216	broad.mit.edu	37	1	160389128	160389128	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:160389128C>T	uc001fwb.2	+	4	828	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	VANGL2_uc001fwc.2_Missense_Mutation_p.R177C	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	177					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.R177H(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCGCTGCCCCGCGTCTTTGT	0.627000														53			46		0	0	0.000781405	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432091	140432091	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140432091G>A	uc003lik.1	+	0	1113	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	346	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)			CAATCCTCCCGAAGTGATGGT	0.517000														41			23		0	0	0.000295444	0	0
OASL	8638	broad.mit.edu	37	12	121469308	121469308	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:121469308G>A	uc001tzj.1	-	2	600	c.594C>T	c.(592-594)ttC>ttT	p.F198F	OASL_uc001tzk.1_Silent_p.F198F	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	198					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATGTTTCACGAAATTTCTCT	0.587000														198			108		0	0	0.000781405	0	0
FAM123C	205147	broad.mit.edu	37	2	131519914	131519914	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:131519914G>A	uc021voy.1	+	0	269	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	FAM123C_uc002trw.2_Missense_Mutation_p.R90Q|FAM123C_uc010fmv.2_Missense_Mutation_p.R90Q|FAM123C_uc010fms.1_Missense_Mutation_p.R90Q|FAM123C_uc010fmt.1_Missense_Mutation_p.R90Q|FAM123C_uc010fmu.1_Missense_Mutation_p.R90Q	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	90										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		AAACCGGTGCGAAAGTGCAAG	0.662000														13			5		0	0	0.000602214	0	0
SOX6	55553	broad.mit.edu	37	11	16340070	16340070	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:16340070G>A	uc001mme.3	-	2	439	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	SOX6_uc001mmd.3_Missense_Mutation_p.R126C|SOX6_uc001mmf.3_Missense_Mutation_p.R123C|SOX6_uc001mmg.3_Missense_Mutation_p.R123C|SOX6_uc001mmh.1_Non-coding_Transcript|SOX6_uc009ygs.2_Non-coding_Transcript|SOX6_uc001mmi.3_Missense_Mutation_p.R123C|SOX6_uc001mmj.3_Missense_Mutation_p.R123C	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	123					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CTCCCTTTGCGGCGCTCTGGG	0.498000														35			67		0	0	0.000781405	0	0
PAPD7	11044	broad.mit.edu	37	5	6751215	6751215	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:6751215C>T	uc003jdx.1	+	10	1303	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S	PAPD7_uc011cmn.2_Missense_Mutation_p.P392S|PAPD7_uc010itl.1_Missense_Mutation_p.P212S	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	392					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGCGCCAGCTCCTCTCATGGC	0.537000														59			22		0	0	0.00047179	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209499	140209499	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140209499C>T	uc003lho.2	+	0	1850	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.S608L	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	621	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S608L(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTATGAGCTG	0.662000														30			10		0	0	0.000442599	0	0
PDE1B	5153	broad.mit.edu	37	12	54966942	54966942	+	Missense_Mutation	SNP	C	T	T	rs137936270		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:54966942C>T	uc001sgd.2	+	7	1139	c.746C>T	c.(745-747)tCg>tTg	p.S249L	PDE1B_uc010soz.2_Missense_Mutation_p.S112L|PDE1B_uc010spa.1_Missense_Mutation_p.S208L|PDE1B_uc001sge.3_Missense_Mutation_p.S229L|PDE1B_uc001sgf.3_Missense_Mutation_p.S112L|PDE1B_uc009znq.3_Missense_Mutation_p.S45L	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	249	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CACTGCCTGTCGGAGATTGAG	0.542000														51			30		0	0	0.00058488	0	0
TRPM7	54822	broad.mit.edu	37	15	50897179	50897179	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:50897179A>G	uc001zyt.4	-	20	3154	c.2872T>C	c.(2872-2874)Ttt>Ctt	p.F958L	TRPM7_uc010bew.2_Missense_Mutation_p.F958L|TRPM7_uc001zyu.3_Missense_Mutation_p.F516L	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	958					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CCAGCCACAAAAACATGATTA	0.328000														56			27		0	0	0.000878237	0	0
CRB1	23418	broad.mit.edu	37	1	197390429	197390429	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:197390429G>A	uc001gtz.3	+	5	1680	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	CRB1_uc010poz.2_Missense_Mutation_p.D422N|CRB1_uc009wza.3_Missense_Mutation_p.D379N|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.D491N|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.D140N	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	491	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.G490G(3)|p.D491N(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATTTGAGGGCGATGGCTTCCT	0.517000														40			21		0	0	0.00121646	0	0
ADRBK2	157	broad.mit.edu	37	22	26118328	26118328	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:26118328C>T	uc003abx.4	+	20	2125	c.1978C>T	c.(1978-1980)Cgt>Tgt	p.R660C	ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	660							ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	p.R659P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GCTATTGCGTCGTGCCCCGAA	0.542000														10			57		0	0	0.000781405	0	0
PNLDC1	154197	broad.mit.edu	37	6	160239996	160239996	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:160239996T>A	uc003qsy.1	+	16	1315	c.1276T>A	c.(1276-1278)Tat>Aat	p.Y426N	PNLDC1_uc003qsx.1_Missense_Mutation_p.Y415N	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	415						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGGTCCAGATTATCCCAGTAT	0.443000														54			30		0	0	0.000692331	0	0
NR2F6	2063	broad.mit.edu	37	19	17351572	17351572	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:17351572G>A	uc002nfq.3	-	1	403	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_005234	NP_005225	P10588	NR2F6_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 6 (NR2F6), mRNA.	94					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	p.S94Y(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						GTCACGGTTGGACCTGGGGGC	0.612000														46			15		0	0	0.00074312	0	0
LPHN2	23266	broad.mit.edu	37	1	82408771	82408771	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:82408771C>T	uc001dit.4	+	5	697	c.516C>T	c.(514-516)ttC>ttT	p.F172F	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.F172F|LPHN2_uc001div.3_Silent_p.F172F|LPHN2_uc009wcd.3_Silent_p.F172F	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	172	Olfactomedin-like.				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)		AAATTTATTTCATGCCCTGGA	0.398000														34			25		0	0	0.000375601	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887289	47887289	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:47887289G>A	uc002xui.3	-	2	1307	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	354							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)			ATATTGGGGCGAAGGAAGGGC	0.502000														97			46		0	0	0.000781405	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40300312	40300312	+	Silent	SNP	C	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:40300312C>G	uc001zkm.1	+	24	3542	c.3492C>G	c.(3490-3492)gtC>gtG	p.V1164V	EIF2AK4_uc010bbj.1_Silent_p.V865V|EIF2AK4_uc001zkn.1_Silent_p.V264V|EIF2AK4_uc001zko.1_Silent_p.V102V|EIF2AK4_uc010bbk.1_Non-coding_Transcript	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	1164	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TTGATATTGTCACTTCTACCA	0.428000														106			60		0	0	0.000781405	0	0
DSG3	1830	broad.mit.edu	37	18	29039874	29039874	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:29039874C>T	uc002kws.3	+	5	693	c.584C>T	c.(583-585)gCc>gTc	p.A195V		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	195	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCTAAAATTGCCTTCAAAATT	0.418000														39			23		0	0	0.000586117	0	0
ALAS1	211	broad.mit.edu	37	3	52248117	52248117	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:52248117C>T	uc011bec.2	+	11	2215	c.1895C>T	c.(1894-1896)cCa>cTa	p.P632L	ALAS1_uc003dcy.2_Missense_Mutation_p.P615L|ALAS1_uc003dcz.2_Missense_Mutation_p.P615L	NM_199166	NP_954635	P13196	HEM1_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	615					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGCAGGAGGCCACTGCATTTT	0.468000														52			29		0	0	0.001512	0	0
CACNA1B	774	broad.mit.edu	37	9	140991008	140991008	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:140991008C>T	uc004cog.3	+	35	5306	c.5161C>T	c.(5161-5163)Cct>Tct	p.P1721S	CACNA1B_uc022bqn.1_Missense_Mutation_p.P1721S|CACNA1B_uc004coi.3_Missense_Mutation_p.P935S|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Intron	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1723					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CATCCTAGGTCCTCACCACTT	0.557000														9			27		0	0	0.001512	0	0
PCSK1	5122	broad.mit.edu	37	5	95728987	95728987	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:95728987C>T	uc003kls.2	-	13	2219	c.1980G>A	c.(1978-1980)gaG>gaA	p.E660E	PCSK1_uc010jbi.2_Silent_p.E350E|PCSK1_uc021ybq.1_Silent_p.E613E	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	660					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)	AAGGGGCTCCCTCCTCCAACT	0.562000														47			21		0	0	0.00121646	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070718	114070718	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:114070718G>A	uc003ebi.3	-	3	387	c.207C>T	c.(205-207)atC>atT	p.I69I	ZBTB20_uc003ebj.3_5'UTR|ZBTB20_uc010hqp.3_5'UTR|ZBTB20_uc003ebk.3_5'UTR|ZBTB20_uc003ebl.3_5'UTR|ZBTB20_uc003ebm.3_5'UTR|ZBTB20_uc003ebn.3_5'UTR|ZBTB20-AS1_uc003ebo.2_Non-coding_Transcript	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CCTTGCAACTGATGTCACCTG	0.522000														41			30		0	0	0.000814825	0	0
OR1G1	8390	broad.mit.edu	37	17	3030567	3030567	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:3030567G>A	uc002fvc.1	-	0	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						ACCCTGAGTAGGAGATGGCCT	0.483000														37			21		0	0	0.000229342	0	0
SMAD9	4093	broad.mit.edu	37	13	37453563	37453563	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:37453563G>A	uc001uvw.3	-	1	607	c.264C>T	c.(262-264)ccC>ccT	p.P88P	SMAD9_uc001uvx.3_Silent_p.P88P|SMAD9_uc010tep.2_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	88	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AAATCACATGGGGCAGGCCCT	0.652000														17			11		0	0	0.00136819	0	0
WWC3	55841	broad.mit.edu	37	X	10096186	10096186	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:10096186C>T	uc004csx.4	+	15	2463	c.2265C>T	c.(2263-2265)tcC>tcT	p.S755S	WWC3_uc010nds.3_Silent_p.S419S|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	755										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ACACCATCTCCATCTCCGGCA	0.587000														35			19		0	0	0.000295444	0	0
RPH3A	22895	broad.mit.edu	37	12	113328703	113328703	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:113328703C>T	uc010syl.2	+	18	2032	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	RPH3A_uc001ttz.3_Missense_Mutation_p.S557F|RPH3A_uc001tty.3_Missense_Mutation_p.S553F|RPH3A_uc009zwe.1_Missense_Mutation_p.S552F|RPH3A_uc010sym.2_Missense_Mutation_p.S508F|RPH3A_uc001tua.3_Missense_Mutation_p.S317F	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	557	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)		ATCCTGGTCTCCCTCATGTAC	0.602000														12			7		0	0	0.000157383	0	0
CLPSL1	340204	broad.mit.edu	37	6	35754864	35754864	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:35754864G>A	uc003old.4	+	1	246	c.189G>A	c.(187-189)gaG>gaA	p.E63E		NM_001010886	NP_001010886	A2RUU4	CF127_HUMAN	Homo sapiens chromosome 6 open reading frame 127 (C6orf127), mRNA.	63					digestion|lipid catabolic process	extracellular region	enzyme activator activity										ACTGCGCGGAGAAGGGGTCCG	0.662000														47			8		0	0	0.000442599	0	0
CENPI	2491	broad.mit.edu	37	X	100387404	100387404	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:100387404C>T	uc004egx.3	+	13	1699	c.1429C>T	c.(1429-1431)Cat>Tat	p.H477Y	CENPI_uc011mrg.2_Missense_Mutation_p.H477Y|CENPI_uc004egy.3_Missense_Mutation_p.H477Y	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	477					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TCTTTTTGACCATCTAGCGCA	0.318000														90			27		0	0	0.00127121	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750199	140750199	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140750199G>A	uc003ljw.2	+	0	238	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc011dat.2_Missense_Mutation_p.E80K	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	80	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGAGCCCCGAAAATGGGAA	0.502000														153			79		0	0	0.000781405	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62875602	62875602	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:62875602C>T	uc004dvl.2	-	7	1911	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	ARHGEF9_uc011mos.1_Missense_Mutation_p.D337N|ARHGEF9_uc004dvk.1_Missense_Mutation_p.D176N|ARHGEF9_uc004dvm.1_Missense_Mutation_p.D337N|ARHGEF9_uc004dvj.2_Missense_Mutation_p.D256N|ARHGEF9_uc011mot.2_Missense_Mutation_p.D305N|ARHGEF9_uc004dvn.3_Missense_Mutation_p.D365N	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	358	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TACAGGATGTCTCTCCGGATT	0.468000														108			60		0	0	0.000781405	0	0
BEND7	222389	broad.mit.edu	37	10	13522979	13522979	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:13522979G>A	uc001imm.2	-	5	1124	c.827C>T	c.(826-828)tCc>tTc	p.S276F	BEND7_uc001imn.3_Missense_Mutation_p.S37F|BEND7_uc001imo.4_Missense_Mutation_p.S289F	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	328							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						ATTGGGTAAGGAGTTAGCCAA	0.423000														20			44		0	0	0.000680045	0	0
TPK1	27010	broad.mit.edu	37	7	144150682	144150682	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:144150682C>T	uc003weq.3	-	8	791	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	TPK1_uc003weo.3_Missense_Mutation_p.E176K|TPK1_uc003wep.3_Non-coding_Transcript|TPK1_uc003wer.3_Missense_Mutation_p.E181K|TPK1_uc003wes.3_Non-coding_Transcript	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA.	230					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TGGTCAGTTTCCACAGTCACA	0.443000														62			105		0	0	0.000781405	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762301	24762301	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:24762301C>T	uc001iru.4	+	5	1394	c.991C>T	c.(991-993)Cct>Tct	p.P331S	KIAA1217_uc001irs.3_Missense_Mutation_p.P251S|KIAA1217_uc001irt.4_Missense_Mutation_p.P331S|KIAA1217_uc010qcy.2_Missense_Mutation_p.P331S|KIAA1217_uc010qcz.2_Missense_Mutation_p.P331S|KIAA1217_uc001irv.1_Missense_Mutation_p.P181S|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.P49S|KIAA1217_uc001irz.3_Missense_Mutation_p.P49S|KIAA1217_uc001irx.3_Missense_Mutation_p.P49S|KIAA1217_uc001iry.3_Missense_Mutation_p.P49S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	331	Pro-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTCCAGAATTCCTTATGGGGG	0.612000														8			16		0	0	0.000308642	0	0
VPS72	6944	broad.mit.edu	37	1	151149261	151149261	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:151149261G>A	uc001exe.1	-	5	997	c.954C>T	c.(952-954)atC>atT	p.I318I	TMOD4_uc001exd.3_5'Flank|TMOD4_uc001exc.4_5'Flank|TMOD4_uc010pct.2_5'Flank	NM_005997	NP_005988	Q15906	VPS72_HUMAN	Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.	318			I -> V (in a breast cancer sample; somatic mutation).		chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.I318V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTCACGAATGATCTTGAAGG	0.602000														60			32		0	0	0.000491102	0	0
GABRP	2568	broad.mit.edu	37	5	170239061	170239061	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:170239061C>T	uc003mau.3	+	9	1320	c.1122C>T	c.(1120-1122)tcC>tcT	p.S374S	GABRP_uc011dev.2_3'UTR	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	374						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTGAAATTTCCAGCGACAACG	0.403000														44			21		0	0	0.00121646	0	0
CEP128	145508	broad.mit.edu	37	14	81371267	81371267	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:81371267G>A	uc001xux.2	-	4	541	c.370C>T	c.(370-372)Cat>Tat	p.H124Y	CEP128_uc001xuz.2_Missense_Mutation_p.H124Y|CEP128_uc001xva.1_Missense_Mutation_p.H124Y|CEP128_uc001xuy.1_5'UTR	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	124						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GGTGGAAAATGATGGAGCTCT	0.408000														49			33		0	0	0.000692331	0	0
GLP2R	9340	broad.mit.edu	37	17	9737139	9737139	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:9737139C>T	uc002gmd.1	+	1	205	c.205C>T	c.(205-207)Ctt>Ttt	p.L69F	GLP2R_uc010cog.1_Non-coding_Transcript	NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	69					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	AGGATCCCTCCTTGAGGAAAC	0.483000														20			12		0	0	0.000308642	0	0
SLC35C2	51006	broad.mit.edu	37	20	44987131	44987131	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:44987131G>A	uc010zxp.2	-	2	195	c.102C>T	c.(100-102)gcC>gcT	p.A34A	SLC35C2_uc002xro.3_Silent_p.A5A|SLC35C2_uc002xrp.3_Silent_p.A5A|SLC35C2_uc002xrq.3_Silent_p.A5A|SLC35C2_uc002xrr.3_Silent_p.A5A|SLC35C2_uc010zxn.2_5'UTR|SLC35C2_uc010zxo.2_5'UTR	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	5					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CCACATCGAGGGCCCACCTCC	0.597000														29			12		0	0	0.000151284	0	0
PEG3	5178	broad.mit.edu	37	19	57328369	57328369	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:57328369C>T	uc002qnu.2	-	6	1792	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E452K|PEG3_uc002qnv.2_Missense_Mutation_p.E481K|PEG3_uc002qnw.2_Missense_Mutation_p.E357K|PEG3_uc002qnx.2_Missense_Mutation_p.E355K|PEG3_uc010etr.2_Missense_Mutation_p.E481K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	481					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCACCATACTCATAGAGGTTC	0.453000														78			38		0	0	0.000692331	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40300332	40300332	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:40300332T>C	uc001zkm.1	+	24	3562	c.3512T>C	c.(3511-3513)tTt>tCt	p.F1171S	EIF2AK4_uc010bbj.1_Missense_Mutation_p.F872S|EIF2AK4_uc001zkn.1_Missense_Mutation_p.F271S|EIF2AK4_uc001zko.1_Missense_Mutation_p.F109S|EIF2AK4_uc010bbk.1_Non-coding_Transcript	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	1171	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACCAACAGCTTTCTGCCCACT	0.418000														118			64		0	0	0.000781405	0	0
MCTP2	55784	broad.mit.edu	37	15	94983482	94983482	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:94983482C>T	uc002btj.3	+	16	2228	c.2163C>T	c.(2161-2163)ttC>ttT	p.F721F	MCTP2_uc010boj.3_Silent_p.F450F|MCTP2_uc010bok.3_Intron|MCTP2_uc002btl.3_Silent_p.F309F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	721					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTACAATTTCATCAGACCTG	0.403000														83			53		0	0	0.000781405	0	0
RBM28	55131	broad.mit.edu	37	7	127958082	127958082	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:127958082G>A	uc003vmp.2	-	14	1756	c.1641C>T	c.(1639-1641)ttC>ttT	p.F547F	RBM28_uc011koj.1_Silent_p.F406F	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	547	RRM 4.				RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CGTGCTCTTGGAACTCCGCAA	0.512000														38			10		0	0	0.000442599	0	0
SHROOM2	357	broad.mit.edu	37	X	9900726	9900726	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:9900726G>A	uc004csu.1	+	5	3493	c.3403G>A	c.(3403-3405)Gga>Aga	p.G1135R	SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1135					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	p.R1134S(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CTGTGAGCGTGGAAGCCAGCA	0.652000														22			10		0	0	0.000442599	0	0
LRTM2	654429	broad.mit.edu	37	12	1940342	1940342	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:1940342C>T	uc001qjt.2	+	3	1115	c.309C>T	c.(307-309)ttC>ttT	p.F103F	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.F103F|LRTM2_uc010sdx.1_Silent_p.F103F|LRTM2_uc001qjv.2_Intron	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	103						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CCAACAACTTCCTGGACCGGC	0.592000														40			18		0	0	0.00074312	0	0
SACS	26278	broad.mit.edu	37	13	23907016	23907016	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:23907016G>A	uc001uon.2	-	9	11588	c.10999C>T	c.(10999-11001)Cat>Tat	p.H3667Y	SACS_uc001uoo.2_Missense_Mutation_p.H3520Y|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3667					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TATTGAGGATGAAATCTAATG	0.383000														40			22		0	0	0.000295444	0	0
HTR3B	9177	broad.mit.edu	37	11	113780017	113780017	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:113780017G>A	uc001pok.3	+	2	191	c.53_splice	c.e2-1	p.G18_splice	HTR3B_uc001pol.3_Missense_Mutation_p.G7E	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	18					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TATTTTCCAGGAATTCTAGCC	0.388000														15			32		0	0	0.000409698	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059653	152059653	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:152059653G>A	uc001ezo.1	-	2	570	c.505C>T	c.(505-507)Cca>Tca	p.P169S		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	169							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GCTTCTCCTGGAAAGTTGTGA	0.438000														58			33		0	0	0.000814825	0	0
GPR98	84059	broad.mit.edu	37	5	90020993	90020993	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:90020993G>A	uc003kju.3	+	46	10093	c.9997G>A	c.(9997-9999)Gaa>Aaa	p.E3333K	GPR98_uc003kjt.3_Missense_Mutation_p.E1039K|GPR98_uc003kjv.3_Missense_Mutation_p.E933K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3333					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGAAATGAAGAAAAGCCTTC	0.274000														30			8		0	0	0.000274275	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76026865	76026865	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:76026865G>A	uc003ufb.3	-	5	1186	c.838C>T	c.(838-840)Cac>Tac	p.H280Y	ZP3_uc003ufc.4_5'UTR	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	280	SRCR 2.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						TCCTCGTGGTGGCCGCAGTTG	0.736000														4			5		0	0	0.000602214	0	0
APOBR	55911	broad.mit.edu	37	16	28509438	28509439	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:28509438_28509439CC>TT	uc002dqb.2	+	2	3025_3026	c.2992_2993CC>TT	c.(2992-2994)cca>TTa	p.P998L	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.P527L	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	989					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CGTCTCTGTCCCAAGGAGTCGC	0.688000														18			6		0	0	6.4e-05	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123215998	123215998	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:123215998G>A	uc004bkf.3	-	20	2710	c.2529C>T	c.(2527-2529)tcC>tcT	p.S843S	CDK5RAP2_uc004bke.3_Silent_p.S128S|CDK5RAP2_uc004bkg.3_Silent_p.S843S|CDK5RAP2_uc011lxw.2_Silent_p.S108S|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Silent_p.S108S|CDK5RAP2_uc011lya.2_Silent_p.S108S|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.3_Silent_p.S610S	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	843					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CATGTGGCTTGGAAAATGAGT	0.463000														29			39		0	0	0.000437636	0	0
CFHR1	3078	broad.mit.edu	37	1	196799639	196799639	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:196799639G>A	uc001gtn.3	+	4	731	c.617G>A	c.(616-618)gGa>gAa	p.G206E	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Missense_Mutation_p.G110E	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	206	Sushi 4.				complement activation	extracellular space		p.T205T(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GATTCTACGGGAAAATGTGGG	0.383000														48			46		0	0	0.000781405	0	0
IFT88	8100	broad.mit.edu	37	13	21217703	21217703	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:21217703C>T	uc001unh.3	+	20	2215	c.1819C>T	c.(1819-1821)Cgt>Tgt	p.R607C	IFT88_uc001uni.3_Missense_Mutation_p.R598C|IFT88_uc001unj.3_Missense_Mutation_p.R597C|IFT88_uc010tcq.2_Missense_Mutation_p.R578C	NM_175605	NP_006522	Q13099	IFT88_HUMAN	Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA.	607					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		ATTATATGATCGTGAAGGAGA	0.338000														48			23		0	0	0.000720815	0	0
FOXI1	2299	broad.mit.edu	37	5	169535126	169535126	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:169535126G>A	uc003mai.4	+	1	693	c.648G>A	c.(646-648)agG>agA	p.R216R	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	216					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.R216S(2)|p.R216G(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAGGAAAAGGAAGAGAAAAT	0.498000									Pendred syndrome					44			26		0	0	0.000878237	0	0
ZNF793	390927	broad.mit.edu	37	19	38027988	38027988	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:38027988G>A	uc010efm.3	+	7	870	c.428G>A	c.(427-429)gGa>gAa	p.G143E	ZNF793_uc010xts.2_Missense_Mutation_p.G143E	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACCCTTGTGGAAAGAATTTG	0.353000														24			8		0	0	0.000274275	0	0
EMR1	2015	broad.mit.edu	37	19	6908704	6908704	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:6908704C>T	uc002mfw.3	+	9	1081	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	EMR1_uc010dvc.3_Missense_Mutation_p.S348F|EMR1_uc010dvb.3_Missense_Mutation_p.S296F|EMR1_uc010xji.2_Missense_Mutation_p.S207F|EMR1_uc010xjj.2_Missense_Mutation_p.S171F	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	348	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACGCAGGTCTCCTTTTGTGCA	0.383000														47			25		0	0	0.000878237	0	0
CSMD2	114784	broad.mit.edu	37	1	34033298	34033298	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:34033298C>T	uc001bxm.1	-	52	8452	c.8275G>A	c.(8275-8277)Ggc>Agc	p.G2759S	CSMD2_uc001bxn.1_Missense_Mutation_p.G2736S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2736	Sushi 18.					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)				ACCACACTGCCCCGGTAGCTG	0.567000														20			5		0	0	0.000602214	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42298225	42298225	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:42298225C>T	uc021sjp.1	-	3	488	c.488G>A	c.(487-489)cGa>cAa	p.R163Q		NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	145					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GGTTTTCTTTCGGAAACAGAG	0.507000														39			14		0	0	0.000151284	0	0
DDX24	57062	broad.mit.edu	37	14	94526450	94526450	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:94526450A>G	uc001ycj.3	-	4	2006	c.1907T>C	c.(1906-1908)cTg>cCg	p.L636P	DDX24_uc010twq.2_Missense_Mutation_p.L593P|DDX24_uc010twr.2_Missense_Mutation_p.L386P	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	636	Helicase C-terminal.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTACTCTTCCAGACGGGCAAA	0.517000														44			29		0	0	0.000339439	0	0
ENTPD1	953	broad.mit.edu	37	10	97607239	97607239	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:97607239C>T	uc010qoj.2	+	6	949	c.886C>T	c.(886-888)Cat>Tat	p.H296Y	ENTPD1_uc001kli.4_Missense_Mutation_p.H291Y|LOC728558_uc001klg.2_Non-coding_Transcript|ENTPD1_uc010qok.2_Missense_Mutation_p.H176Y|ENTPD1_uc010qol.2_Missense_Mutation_p.H176Y|ENTPD1_uc001klh.4_Missense_Mutation_p.H284Y|ENTPD1_uc010qom.2_Intron|ENTPD1_uc010qon.2_Missense_Mutation_p.H146Y|ENTPD1_uc009xva.3_Missense_Mutation_p.H146Y	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	284					cell adhesion	integral to plasma membrane	ATP binding	p.D295D(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CCCATGCTTTCATCCTGGATA	0.418000														20			37		0	0	0.000509022	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153905608	153905608	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:153905608G>A	uc021xgc.1	+	6	1906	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	ARHGEF26_uc011bog.1_Missense_Mutation_p.R541Q|ARHGEF26_uc011boh.1_Missense_Mutation_p.R541Q	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	541	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TACCAACAACGAACACTACAA	0.323000														22			6		0	0	0.000157383	0	0
DEC1	50514	broad.mit.edu	37	9	118163567	118163567	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:118163567G>A	uc004bjk.1	+	6	702	c.183G>A	c.(181-183)agG>agA	p.R61R	DEC1_uc004bjl.1_Non-coding_Transcript	NM_017418	NP_059114	Q9P2X7	DEC1_HUMAN	Homo sapiens deleted in esophageal cancer 1 (DEC1), mRNA.	61					negative regulation of cell proliferation					kidney(1)|large_intestine(1)|ovary(1)	3						CTCTTGCCAGGCCCAAGGCTG	0.408000														11			27		0	0	0.000339439	0	0
PCLO	27445	broad.mit.edu	37	7	82544905	82544905	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:82544905G>A	uc003uhx.2	-	6	12686	c.12397C>T	c.(12397-12399)Cgt>Tgt	p.R4133C	PCLO_uc003uhv.2_Missense_Mutation_p.R4133C|PCLO_uc010lec.3_Missense_Mutation_p.R1098C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4064					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						GTCCCTCTACGAAATTCCTGT	0.408000														47			60		0	0	0.000781405	0	0
GPR32	2854	broad.mit.edu	37	19	51274719	51274719	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:51274719G>A	uc010ycf.2	+	0	862	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	288						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GATGCTCAAGGAAATCTACCA	0.567000														41			17		0	0	0.000566183	0	0
EIF2B1	1967	broad.mit.edu	37	12	124114980	124114980	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:124114980G>A	uc001ufm.3	-	2	435	c.216C>T	c.(214-216)ttC>ttT	p.F72F	EIF2B1_uc010tat.2_Silent_p.F72F	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1), mRNA.	72					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TGAAGCGGAGGAAGAGCTCCC	0.552000														21			15		0	0	0.000308642	0	0
APPBP2	10513	broad.mit.edu	37	17	58524995	58524995	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:58524995C>A	uc002iys.1	-	12	1993	c.1705G>T	c.(1705-1707)Gaa>Taa	p.E569*	APPBP2_uc010ddl.1_Nonsense_Mutation_p.E498*	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	569					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TGCACCACTTCTTCAGTGGAC	0.498000														94			58		1.31726e-23	7.44212e-23	0.000781405	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553921	140553921	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:140553921C>T	uc003lit.3	+	0	1679	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCGCCTCCCTGGTCTCC	0.672000														44			33		0	0	0.00128727	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413843	22413843	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:22413843C>T	uc001yuf.3	+	0	382	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		CACCATCTGCCTGCCTCTGCA	0.507000														85			24		0	0	0.000586117	0	0
NAV2	89797	broad.mit.edu	37	11	19955420	19955420	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:19955420C>T	uc010rdm.2	+	7	2060	c.1699C>T	c.(1699-1701)Ccc>Tcc	p.P567S	NAV2_uc001mpp.3_Missense_Mutation_p.P480S|NAV2_uc001mpr.4_Missense_Mutation_p.P544S|NAV2_uc021qew.1_Missense_Mutation_p.P544S	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	567						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CAGCTTCATCCCCAAAGGGGG	0.562000														8			25		0	0	0.00127121	0	0
C12orf40	283461	broad.mit.edu	37	12	40114841	40114841	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:40114841G>A	uc001rmc.3	+	12	1914	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	583										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CAAAACCAATGATAACTGCGT	0.398000														39			23		0	0	0.000295444	0	0
RYR1	6261	broad.mit.edu	37	19	38966067	38966067	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:38966067G>A	uc002oit.3	+	28	4400	c.4270G>A	c.(4270-4272)Gag>Aag	p.E1424K	RYR1_uc002oiu.3_Missense_Mutation_p.E1424K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1424	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.P1423P(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGATGACCCCGAGATCATCCT	0.597000														18			8		0	0	0.000157383	0	0
NLRP12	91662	broad.mit.edu	37	19	54313043	54313043	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:54313043C>T	uc002qcj.4	-	2	2090	c.1870G>A	c.(1870-1872)Gag>Aag	p.E624K	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.E624K|NLRP12_uc002qci.4_Missense_Mutation_p.E624K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.E624K	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	624					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGGATAAACTCCTCCTCCTGG	0.567000														42			22		0	0	0.000295444	0	0
GCH1	2643	broad.mit.edu	37	14	55310756	55310756	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:55310756G>A	uc001xbh.1	-	5	893	c.732C>T	c.(730-732)ttC>ttT	p.F244F	GCH1_uc010aol.1_Intron|GCH1_uc001xbi.1_Silent_p.F244F|GCH1_uc001xbj.1_Intron|GCH1_uc001xbk.1_Intron	NM_001024024	NP_001019195	P30793	GCH1_HUMAN	Homo sapiens GTP cyclohydrolase 1 (GCH1), transcript variant 2, mRNA.	244					GTP catabolic process|dopamine biosynthetic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding			endometrium(2)|lung(7)|skin(2)	11						TGAGAGTCAGGAACTCTTCCC	0.483000														48			20		0	0	0.000229342	0	0
GPR176	11245	broad.mit.edu	37	15	40099246	40099246	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:40099246G>A	uc001zkj.1	-	1	1252	c.386C>T	c.(385-387)tCt>tTt	p.S129F	GPR176_uc010uck.1_Missense_Mutation_p.S69F	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	129					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GATGGTCACAGAGCAGAATAC	0.433000														101			65		0	0	0.000781405	0	0
ABRA	137735	broad.mit.edu	37	8	107773671	107773671	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:107773671C>T	uc003ymm.4	-	1	794	c.740G>A	c.(739-741)gGg>gAg	p.G247E		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	247	Interaction with actin (By similarity).				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTGCCATCTCCCTTTCAAGTT	0.468000														57			34		0	0	0.00058488	0	0
HECW2	57520	broad.mit.edu	37	2	197208412	197208412	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:197208412C>T	uc002utm.1	-	2	552	c.369G>A	c.(367-369)tgG>tgA	p.W123*	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	123					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCTCAATTCTCCATACAATTT	0.373000														134			89		0	0	0.000781405	0	0
BC068290	0	broad.mit.edu	37	16	33784746	33784746	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:33784746C>T	uc010vgb.2	+	1	155	c.135C>T	c.(133-135)gcC>gcT	p.A45A						SubName: Full=Uncharacterized protein;																		TGGGCTGGGCCTTCGTGCTGT	0.617000														26			10		0	0	0.00136819	0	0
TC2N	123036	broad.mit.edu	37	14	92251698	92251698	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:92251698G>A	uc001xzu.4	-	10	1361	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	TC2N_uc001xzt.4_Silent_p.F390F|TC2N_uc010auc.3_Silent_p.F326F|TC2N_uc001xzv.4_Silent_p.F390F	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	390	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CCACCTTCACGAAAAAACCTA	0.323000														90			82		0	0	0.000781405	0	0
HOXB8	3218	broad.mit.edu	37	17	46691682	46691682	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:46691682G>A	uc002inw.3	-	0	620	c.385C>T	c.(385-387)Ccg>Tcg	p.P129S		NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	129						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GTGGGCGACGGGCTCTGCTCG	0.711000														10			4		0	0	0.00024832	0	0
RBM22	55696	broad.mit.edu	37	5	150071404	150071404	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:150071404G>A	uc003lst.3	-	10	1294	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	391	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATGAAAGGAGGGGGTGGTCC	0.522000														43			22		0	0	0.000586117	0	0
ZNF415	55786	broad.mit.edu	37	19	53612696	53612696	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:53612696G>A	uc002qax.3	-	6	1095	c.746C>T	c.(745-747)tCa>tTa	p.S249L	ZNF415_uc010yds.2_Missense_Mutation_p.S201L|ZNF415_uc010ydt.2_Missense_Mutation_p.S201L|ZNF415_uc002qau.3_Missense_Mutation_p.S188L|ZNF415_uc002qav.3_Missense_Mutation_p.S213L|ZNF415_uc002qaw.3_Missense_Mutation_p.S201L|ZNF415_uc002qay.3_Missense_Mutation_p.S188L|ZNF415_uc002qaz.3_Missense_Mutation_p.S249L|ZNF415_uc002qba.3_5'UTR			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGTGAGTAATGAAGAACAGAT	0.383000														54			25		0	0	0.000375601	0	0
RYR3	6263	broad.mit.edu	37	15	33840366	33840366	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:33840366G>A	uc001zhi.3	+	8	846	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	RYR3_uc010bar.3_Missense_Mutation_p.R259Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	259	MIR 3.				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)		GCTGGGACTCGAGCCAGGTCT	0.512000														23			7		0	0	0.000157383	0	0
RCOR1	23186	broad.mit.edu	37	14	103187353	103187353	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:103187353A>G	uc001ymb.3	+	8	1291	c.1054A>G	c.(1054-1056)Att>Gtt	p.I352V		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	Homo sapiens REST corepressor 1 (RCOR1), mRNA.	352	Interaction with KDM1A.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|protein binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GATCCAGAATATTAAACAGAC	0.294000														115			96		0	0	0.000781405	0	0
STAB2	55576	broad.mit.edu	37	12	104092977	104092977	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:104092977T>A	uc001tjw.3	+	33	3872	c.3686T>A	c.(3685-3687)tTc>tAc	p.F1229Y		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1229	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTCTCCTATTTCCTTAGCTTC	0.478000														15			12		0	0	0.000151284	0	0
MRPL30	51263	broad.mit.edu	37	2	99812098	99812098	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:99812098T>A	uc002szu.3	+	5	614	c.416T>A	c.(415-417)cTc>cAc	p.L139H	MRPL30_uc002szl.1_Non-coding_Transcript|MRPL30_uc002szv.3_Missense_Mutation_p.L139H	NM_145212	NP_660213	Q8TCC3	RM30_HUMAN	Homo sapiens mitochondrial ribosomal protein L30 (MRPL30), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	139					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						AACACGTGCCTCAAAAGCACT	0.478000														76			40		0	0	0.00170553	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239234471	239234471	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:239234471T>A	uc002vye.3	+	2	333	c.214T>A	c.(214-216)Ttc>Atc	p.F72I	TRAF3IP1_uc002vyf.3_Missense_Mutation_p.F72I	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	Homo sapiens TNF receptor-associated factor 3 interacting protein 1 (TRAF3IP1), transcript variant 1, mRNA.	72	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		AAAAATTAGCTTCCTACAAAA	0.418000														28			10		0	0	0.000978159	0	0
CACHD1	57685	broad.mit.edu	37	1	65143967	65143967	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:65143967C>T	uc001dbo.1	+	22	3170	c.3065C>T	c.(3064-3066)cCc>cTc	p.P1022L	CACHD1_uc001dbp.1_Missense_Mutation_p.P777L|CACHD1_uc001dbq.1_Missense_Mutation_p.P777L|CACHD1_uc010opa.1_Missense_Mutation_p.P266L	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	1073					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCCAAAAGTCCCTACGTTGAT	0.458000														14			19		0	0	0.00152264	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406929	38406929	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:38406929G>A	uc003jlc.2	+	8	1175	c.829_splice	c.e8-1	p.V277_splice	EGFLAM_uc003jlb.2_Splice_Site_p.V277_splice|EGFLAM_uc003jle.2_Splice_Site_p.V43_splice|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	277						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCTGGCTTTAGGTTAAACCAC	0.398000														16			15		0	0	0.000308642	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694496	153694496	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:153694496C>T	uc004flm.3	+	14	2855	c.2682C>T	c.(2680-2682)atC>atT	p.I894I		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	894	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					GCCCTAGGATCGTGTGTGAGA	0.677000														26			22		0	0	0.000295444	0	0
HR	55806	broad.mit.edu	37	8	21986204	21986204	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:21986204G>A	uc003xas.3	-	1	1145	c.480C>T	c.(478-480)ccC>ccT	p.P160P	HR_uc003xat.3_Silent_p.P160P|HR_uc010lts.2_Silent_p.P160P	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	160							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCAAGCAGGTGGGCACCCAGA	0.652000														7			4		0	0	0.000602214	0	0
EHMT2	10919	broad.mit.edu	37	6	31848861	31848862	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:31848861_31848862CC>AA	uc003nxz.1	-	25	3215_3216	c.3205_3206GG>TT	c.(3205-3207)ggg>TTg	p.G1069L	EHMT2_uc003nxx.1_Missense_Mutation_p.G267L|EHMT2_uc003nxy.1_Missense_Mutation_p.G867L|EHMT2_uc011don.1_Missense_Mutation_p.G1092L|EHMT2_uc003nya.1_Missense_Mutation_p.G1035L|SLC44A4_uc010jti.3_5'Flank|SLC44A4_uc011dom.2_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	1069	SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GATCAGCTCCCCGACATACCTG	0.535000														202			8		0	0	6.4e-05	0	0
HEYL	26508	broad.mit.edu	37	1	40092735	40092735	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:40092735G>A	uc001cdp.3	-	4	482	c.431C>T	c.(430-432)cCc>cTc	p.P144L	HEYL_uc010oiw.2_Missense_Mutation_p.P116L	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA.	144	Orange.				Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AATCCGGACGGGGTCTGCACG	0.647000														24			21		0	0	0.000229342	0	0
MXRA5	25878	broad.mit.edu	37	X	3241849	3241849	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:3241849G>A	uc004crg.4	-	4	2034	c.1877C>T	c.(1876-1878)tCa>tTa	p.S626L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	626	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTATACATGTGATGTGTTAGC	0.453000														31			22		0	0	0.000229342	0	0
SYNRG	11276	broad.mit.edu	37	17	35937564	35937565	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:35937564_35937565CC>AA	uc002hoa.3	-	6	819_820	c.736_737GG>TT	c.(736-738)ggg>TTg	p.G246L	SYNRG_uc010wde.2_Intron|SYNRG_uc010wdf.2_Intron|SYNRG_uc002hoc.3_Intron|SYNRG_uc002hoe.3_Intron|SYNRG_uc002hod.3_Intron|SYNRG_uc010wdg.2_Intron|SYNRG_uc002hob.3_Missense_Mutation_p.G246L|SYNRG_uc002hof.3_5'Flank|SYNRG_uc010cvd.1_Intron|SYNRG_uc002hog.1_Missense_Mutation_p.G380L|SYNRG_uc010wdh.1_Missense_Mutation_p.G347L	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	246					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TACAGCAACCCCGTTACTGGCC	0.450000														350			9		0	0	6.4e-05	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447335	24447335	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:24447335A>T	uc001biq.2	-	6	1888	c.1685T>A	c.(1684-1686)cTt>cAt	p.L562H	IL22RA1_uc010oeg.1_Missense_Mutation_p.L494H|IL22RA1_uc009vrb.2_Missense_Mutation_p.L426H|IL22RA1_uc010oeh.2_3'UTR	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	562						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GCCTCTGAAAAGAGAATCCAG	0.602000														36			21		0	0	0.00106085	0	0
MSLN	10232	broad.mit.edu	37	16	815762	815762	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:815762C>T	uc002cjw.2	+	9	978	c.867C>T	c.(865-867)ctC>ctT	p.L289L	MSLN_uc002cju.1_Silent_p.L289L|MSLN_uc002cjt.1_Silent_p.L289L|MSLN_uc010brd.1_Silent_p.L288L|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	289					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGACCATCCTCCGGCCGCGGT	0.701000														15			10		0	0	0.000673444	0	0
RNF180	285671	broad.mit.edu	37	5	63496695	63496695	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:63496695C>T	uc003jti.3	+	1	171	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C	RNF180_uc003jth.4_Missense_Mutation_p.R21C|RNF180_uc010iws.3_Missense_Mutation_p.R21C	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	Homo sapiens ring finger protein 180 (RNF180), transcript variant 1, mRNA.	21				SILRC -> GETVFSL (in Ref. 2; CAD89939).		integral to membrane|nuclear envelope	zinc ion binding	p.R21H(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AAGTATTCTTCGTTGTTGGAA	0.333000														43			20		0	0	0.00121646	0	0
AV2S1A1	0	broad.mit.edu	37	14	22356464	22356464	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:22356464C>T	uc021rph.1	+	1	227	c.125C>T	c.(124-126)tCt>tTt	p.S42F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Missense_Mutation_p.S42F|AV2S1A1_uc021rpi.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 117-2.																		GCCATTGCCTCTCTCAACTGC	0.488000														37			19		0	0	0.000958276	0	0
PHF16	9767	broad.mit.edu	37	X	46913781	46913781	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:46913781G>A	uc004dgx.3	+	8	1245	c.1194G>A	c.(1192-1194)caG>caA	p.Q398Q	PHF16_uc004dgy.3_Silent_p.Q398Q	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	398					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGCGGGCACAGAAGCTTCGGG	0.537000														31			17		0	0	0.000422831	0	0
ITGAD	3681	broad.mit.edu	37	16	31424248	31424248	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:31424248G>A	uc010cap.1	+	14	1849	c.1800G>A	c.(1798-1800)atG>atA	p.M600I	ITGAD_uc002ebv.1_Missense_Mutation_p.M599I	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	599					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						ATGGACTGATGGACCTGGCCG	0.667000														29			26		0	0	0.00106085	0	0
AMDHD1	144193	broad.mit.edu	37	12	96350710	96350710	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:96350710C>T	uc001tel.2	+	3	663	c.557C>T	c.(556-558)gCt>gTt	p.A186V	AMDHD1_uc009zth.2_Missense_Mutation_p.A77V	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	186					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GGCATCTCGGCTACCTACTGC	0.612000														83			37		0	0	0.000589545	0	0
DDX4	54514	broad.mit.edu	37	5	55110939	55110939	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:55110939C>T	uc003jqg.4	+	19	2025	c.1926C>T	c.(1924-1926)tcC>tcT	p.S642S	DDX4_uc010ivz.3_Silent_p.S622S|DDX4_uc003jqh.4_Silent_p.S608S|DDX4_uc003jqj.3_Silent_p.S493S	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	642	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GAGCAATTTCCTTTTTTGATC	0.358000														88			52		0	0	0.000781405	0	0
CASC1	55259	broad.mit.edu	37	12	25267737	25267737	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:25267737G>A	uc001rgk.3	-	12	1546	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	CASC1_uc001rgj.3_Silent_p.F442F|CASC1_uc001rgm.4_Silent_p.F546F|CASC1_uc001rgl.3_Silent_p.F482F|CASC1_uc010sje.2_Silent_p.F423F|CASC1_uc010sjf.2_Silent_p.F370F|CASC1_uc010sjg.1_3'UTR	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	482										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TGTCCAGGCTGAATGTTACAA	0.383000														46			21		0	0	0.000295444	0	0
ZNF708	7562	broad.mit.edu	37	19	21476864	21476864	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:21476864G>A	uc002npq.1	-	3	1102	c.904C>T	c.(904-906)Cat>Tat	p.H302Y	ZNF708_uc002npr.1_Missense_Mutation_p.H238Y|ZNF708_uc010ecs.1_Missense_Mutation_p.H238Y	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H302Y(2)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TCTCCAGTATGAATTTTCTTG	0.378000														21			12		0	0	0.000978159	0	0
SEPT6	23157	broad.mit.edu	37	X	118763465	118763465	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:118763465C>T	uc004erv.3	-	8	1361	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Missense_Mutation_p.E366K|SEPT6_uc004ert.3_Missense_Mutation_p.E366K|SEPT6_uc004eru.3_Missense_Mutation_p.E366K|SEPT6_uc004erw.3_Missense_Mutation_p.E308K|SEPT6_uc011mtv.1_Missense_Mutation_p.E308K|SEPT6_uc011mtw.1_Missense_Mutation_p.E396K	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA.	366					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	p.E366E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TCAAACTTCTCGTGCAGCTGG	0.537000			T	MLL	AML									38			26		0	0	0.00106085	0	0
BDP1	55814	broad.mit.edu	37	5	70855835	70855835	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:70855835T>A	uc003kbp.1	+	36	7530	c.7267T>A	c.(7267-7269)Ttt>Att	p.F2423I	BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	2423					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACAAGATATTTTTCTTACCTC	0.408000														35			23		0	0	0.000720815	0	0
PFAS	5198	broad.mit.edu	37	17	8167625	8167625	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:8167625C>T	uc002gkr.3	+	15	2028	c.1887C>T	c.(1885-1887)ctC>ctT	p.L629L	PFAS_uc010vuv.2_Silent_p.L205L|PFAS_uc010cnw.1_Silent_p.L129L|PFAS_uc002gks.3_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	629					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	p.E628V(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACCTGGAGCTCGAATGGGTGC	0.587000														14			11		0	0	0.000978159	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41038872	41038872	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:41038872G>A	uc003jmj.4	-	20	2670	c.2180C>T	c.(2179-2181)tCc>tTc	p.S727F	HEATR7B2_uc003jmi.4_Missense_Mutation_p.S282F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	727							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CAGGACTTGGGATATGATATC	0.507000														26			12		0	0	0.00136819	0	0
MTR	4548	broad.mit.edu	37	1	236979789	236979789	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:236979789C>T	uc001hyi.4	+	7	1133	c.710C>T	c.(709-711)tCc>tTc	p.S237F	MTR_uc010pxv.1_Non-coding_Transcript|MTR_uc010pxw.2_5'UTR|MTR_uc010pxx.2_Missense_Mutation_p.S237F|MTR_uc010pxy.2_Missense_Mutation_p.S237F|MTR_uc009xgj.1_Missense_Mutation_p.P68S	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	237	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CGGACTCTTTCCGGACAGACA	0.408000														115			127		0	0	0.000781405	0	0
COL7A1	1294	broad.mit.edu	37	3	48624701	48624701	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:48624701C>T	uc003ctz.2	-	22	3062	c.3061G>A	c.(3061-3063)Ggc>Agc	p.G1021S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1021	Fibronectin type-III 9.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAAGAGACGCCAGGCTCTAGC	0.577000														10			11		0	0	0.000673444	0	0
TMEM26	219623	broad.mit.edu	37	10	63170154	63170154	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:63170154C>T	uc001jlo.2	-	5	1402	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	345						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TCCTTAGACTCGTTCTGCCAG	0.587000														13			16		0	0	0.000422831	0	0
DCAF16	54876	broad.mit.edu	37	4	17805353	17805353	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:17805353G>A	uc003gpn.3	-	2	1473	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	DCAF16_uc021xmp.1_Missense_Mutation_p.H138Y	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 16 (DCAF16), mRNA.	138						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						AGAGTGGCATGATCTCTAGAG	0.498000														177			69		0	0	0.000781405	0	0
ANAPC4	29945	broad.mit.edu	37	4	25379079	25379079	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:25379079C>T	uc003gro.3	+	1	159	c.30C>T	c.(28-30)tcC>tcT	p.S10S		NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	10					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GTTTCCCATCCTTCCGGGTGG	0.632000														36			11		0	0	0.00136819	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356590	37356590	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:37356590A>G	uc002xjc.3	+	1	1149	c.886A>G	c.(886-888)Aag>Gag	p.K296E		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	296					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GGCCTGGGAGAAGGTCAAGTT	0.547000														35			23		0	0	0.00047179	0	0
ESM1	11082	broad.mit.edu	37	5	54281074	54281074	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:54281074G>A	uc003jpk.3	-	0	341	c.272C>T	c.(271-273)cCt>cTt	p.P91L	ESM1_uc010ivt.3_Missense_Mutation_p.P91L	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Homo sapiens endothelial cell-specific molecule 1 (ESM1), transcript variant 1, mRNA.	91	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TTCACCAAAAGGATCCTCCCC	0.572000														66			43		0	0	0.000589545	0	0
COPG2	26958	broad.mit.edu	37	7	130295824	130295825	+	Splice_Site	DNP	CC	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:130295824_130295825CC>AA	uc003vqh.1	-	10	826	c.736_splice	c.e10+1	p.A246_splice		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	Homo sapiens coatomer protein complex, subunit gamma 2 (COPG2), mRNA.	716					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					AGACACTTACCCATCCTCAGTT	0.371000														456			11		0	0	6.4e-05	0	0
OR2G2	81470	broad.mit.edu	37	1	247752599	247752599	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:247752599G>A	uc010pyy.2	+	0	938	c.938G>A	c.(937-939)gGa>gAa	p.G313E		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G313R(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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;0.017)			AAGGCTCTGGGAGtaaatatt	0.318000														87			27		0	0	0.000878237	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913641	77913641	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:77913641C>T	uc022bzi.1	-	0	277	c.277G>A	c.(277-279)Gat>Aat	p.D93N	ZCCHC5_uc004edc.1_Missense_Mutation_p.D93N	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	93	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGTAGAAGATCCTGTGGCTCT	0.647000														15			7		0	0	0.000157383	0	0
C20orf3	57136	broad.mit.edu	37	20	24959505	24959506	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:24959505_24959506GG>AA	uc002wtz.3	-	2	326_327	c.225_226CC>TT	c.(223-228)cccccg>ccTTcg	p.P76S	C20orf3_uc002wty.3_Missense_Mutation_p.P76S|C20orf3_uc010zsw.2_Missense_Mutation_p.P76S	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN	Homo sapiens chromosome 20 open reading frame 3 (C20orf3), mRNA.	76					biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)	21						AGCAAGAGCGGGGGTTCTTTGA	0.436000														33			25		0	0	6.4e-05	0	0
TPSAB1	7177	broad.mit.edu	37	16	1291284	1291284	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:1291284C>T	uc002ckz.3	+	2	244	c.192C>T	c.(190-192)atC>atT	p.I64I	TPSAB1_uc010uux.2_Silent_p.I9I	NM_003294	NP_003285	P20231	TRYB2_HUMAN	Homo sapiens tryptase alpha/beta 1 (TPSAB1), mRNA.	64	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GCTCCCTCATCCACCCCCAGT	0.701000														31			12		0	0	0.000219431	0	0
SYCP2	10388	broad.mit.edu	37	20	58475306	58475306	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:58475306C>T	uc002yaz.3	-	16	1430	c.1291G>A	c.(1291-1293)Gga>Aga	p.G431R	SYCP2_uc010gju.1_Missense_Mutation_p.G332R	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	431					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AGCTCTTCTCCGACTGGTGAG	0.333000														22			13		0	0	0.000219431	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066477	18066477	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:18066477G>A	uc003stz.3	-	0	1010	c.929C>T	c.(928-930)tCc>tTc	p.S310F		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	310					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.S310S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GAACAGGTAGGAAACAGATTC	0.333000														162			181		0	0	0.000781405	0	0
CD53	963	broad.mit.edu	37	1	111437015	111437015	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:111437015G>A	uc001dzw.3	+	4	490	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	CD53_uc001dzx.3_Missense_Mutation_p.E107K|CD53_uc010owa.2_Missense_Mutation_p.E107K	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	107					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CTTTGTATATGAACAGAAGGT	0.408000														59			22		0	0	0.00047179	0	0
COL9A1	1297	broad.mit.edu	37	6	71004230	71004230	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:71004230G>A	uc003pfg.4	-	4	495	c.336C>T	c.(334-336)tcC>tcT	p.S112S		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	112	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCGTCAAGAAGGAGTATTCTT	0.393000														84			42		0	0	0.000781405	0	0
CLEC4D	338339	broad.mit.edu	37	12	8673834	8673834	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:8673834G>A	uc001qun.3	+	5	808	c.615G>A	c.(613-615)agG>agA	p.R205R		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.	205	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					AAGCAAGTAGGATTTGTAAAA	0.368000														66			34		0	0	0.00058488	0	0
FMNL2	114793	broad.mit.edu	37	2	153405583	153405583	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:153405583G>A	uc002tye.3	+	3	698	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	111	GBD/FH3.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AAGAGAACTGGAAATTTCTTT	0.343000														19			9		0	0	0.000673444	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953983	161953983	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:161953983G>A	uc010pkq.2	-	7	2162	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C	OLFML2B_uc001gbt.3_Missense_Mutation_p.R62C|OLFML2B_uc001gbu.3_Missense_Mutation_p.R579C	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	579	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGAAGGCGCGATTGTAGTAG	0.597000														37			16		0	0	0.000422831	0	0
SLC25A51P1	442229	broad.mit.edu	37	6	66499092	66499092	+	RNA	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:66499092G>A	uc011dxw.2	+	0		c.1321G>A								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		GAACGGGACAGAAAACTGATA	0.368000														19			11		0	0	0.000978159	0	0
SLC9A7	84679	broad.mit.edu	37	X	46521567	46521567	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:46521567C>T	uc004dgu.1	-	6	933	c.925G>A	c.(925-927)Gga>Aga	p.G309R	SLC9A7_uc004dgv.1_Missense_Mutation_p.G309R	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	309					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						GTGTTCAGTCCCGCTGGCTGG	0.408000														20			6		0	0	0.000157383	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871554	51871554	+	Silent	SNP	T	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:51871554T>G	uc002xwo.3	+	1	2444	c.1557T>G	c.(1555-1557)tcT>tcG	p.S519S	TSHZ2_uc021wex.1_Silent_p.S516S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	519					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S519Y(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTTTGAAATCTTTGGAAAATA	0.493000														38			24		0	0	0.000586117	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20854341	20854341	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:20854341G>A	uc010sii.2	+	3	574	c.219G>A	c.(217-219)agG>agA	p.R73R	SLCO1C1_uc010sij.2_Silent_p.R73R|SLCO1C1_uc009zip.3_Intron|SLCO1C1_uc001rei.3_Silent_p.R73R|SLCO1C1_uc010sik.2_Intron	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	73					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.R73M(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TAGAGAGAAGGTTTGATATCC	0.393000														52			32		0	0	0.00058488	0	0
C1orf87	127795	broad.mit.edu	37	1	60463316	60463316	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:60463316T>C	uc001czs.2	-	10	1553	c.1445A>G	c.(1444-1446)gAa>gGa	p.E482G	C1orf87_uc001czr.1_Missense_Mutation_p.E74G	NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	482							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGGGCATTTTCCAGCTTCCT	0.463000														47			28		0	0	0.000339439	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836088	12836088	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:12836088G>A	uc001aui.3	+	1	717	c.690G>A	c.(688-690)agG>agA	p.R230R		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	230										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	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;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGATGAGGAATCTCCGCA	0.522000														51			36		0	0	0.00148497	0	0
GPR149	344758	broad.mit.edu	37	3	154138962	154138962	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:154138962C>T	uc003faa.3	-	2	1589	c.1489G>A	c.(1489-1491)Gga>Aga	p.G497R		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	497						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATATCACCTCCTGTTTTGTCA	0.403000														66			65		0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82475907	82475907	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:82475907C>T	uc003uhx.2	-	11	14096	c.13807G>A	c.(13807-13809)Gaa>Aaa	p.E4603K	PCLO_uc003uhv.2_Missense_Mutation_p.E4603K|PCLO_uc003uht.1_Missense_Mutation_p.E54K|PCLO_uc003uhu.1_Missense_Mutation_p.E33K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4491	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E4603K(1)		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						TCATGAAGTTCCAGATGCTGG	0.338000														48			19		0	0	0.000586117	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16060315	16060315	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:16060315C>T	uc010obo.2	+	19	3173	c.2946C>T	c.(2944-2946)atC>atT	p.I982I	SLC25A34_uc001axb.1_5'Flank	NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.	982					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACACGGCGATCCAGGAAGCCT	0.642000														57			21		0	0	0.000375601	0	0
GAPT	202309	broad.mit.edu	37	5	57790678	57790678	+	Silent	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:57790678A>T	uc003jro.1	+	2	709	c.315A>T	c.(313-315)ggA>ggT	p.G105G	GAPT_uc021xyy.1_Silent_p.G105G	NM_152687	NP_689900	Q8N292	GAPT_HUMAN	Homo sapiens GRB2-binding adaptor protein, transmembrane (GAPT), mRNA.	105					B cell activation	integral to membrane|plasma membrane		p.G105*(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						AAGCTAAAGGAAAAACCGATA	0.403000														46			39		0	0	0.00128727	0	0
PRKCG	5582	broad.mit.edu	37	19	54395856	54395856	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:54395856C>T	uc002qcq.1	+	6	1062	c.780C>T	c.(778-780)tcC>tcT	p.S260S	PRKCG_uc010eqz.1_Silent_p.S260S|PRKCG_uc010yef.1_Silent_p.S260S|PRKCG_uc010yeg.1_Silent_p.S260S|PRKCG_uc010yeh.1_Silent_p.S147S|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	260	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGGCCATGTCCTTTGGCGTCT	0.647000														24			12		0	0	0.000151284	0	0
MCL1	4170	broad.mit.edu	37	1	150551359	150551360	+	Missense_Mutation	DNP	AA	GC	GC			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:150551359_150551360AA>GC	uc001euz.3	-	0	855_856	c.647_648TT>GC	c.(646-648)gtt>gGC	p.V216G	MCL1_uc010pch.2_Missense_Mutation_p.V106G|MCL1_uc021oyf.1_Missense_Mutation_p.V63G|MCL1_uc001eva.3_Missense_Mutation_p.V216G	NM_021960	NP_068779	Q07820	MCL1_HUMAN	Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related) (MCL1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	216					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CGCCATCCCCAACCCGTCGTAA	0.619000														35			13		0	0	6.4e-05	0	0
EFCAB6	64800	broad.mit.edu	37	22	43933267	43933268	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:43933267_43933268GG>AA	uc003bdy.2	-	28	4351_4352	c.4037_4038CC>TT	c.(4036-4038)tcc>tTT	p.S1346F	EFCAB6_uc003bdz.2_Missense_Mutation_p.S1194F|EFCAB6_uc010gzi.2_Missense_Mutation_p.S1194F	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1346	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCAGGAAATCGGAGGCGTTGAT	0.569000														29			75		0	0	6.4e-05	0	0
STAG2	10735	broad.mit.edu	37	X	123195717	123195717	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:123195717G>A	uc004eua.3	+	16	2035	c.1631G>A	c.(1630-1632)gGa>gAa	p.G544E	STAG2_uc004etz.4_Missense_Mutation_p.G544E|STAG2_uc004eub.3_Missense_Mutation_p.G544E|STAG2_uc004euc.3_Missense_Mutation_p.G544E|STAG2_uc004eud.3_Missense_Mutation_p.G544E|STAG2_uc004eue.3_Missense_Mutation_p.G544E	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	544					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGAGGGACAGGAAAAAGGGTA	0.368000														60			32		0	0	0.000409698	0	0
LGALS9B	284194	broad.mit.edu	37	17	20363713	20363713	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:20363713C>T	uc002gxa.1	-	1	148	c.83G>A	c.(82-84)gGa>gAa	p.G28E	LGALS9B_uc002gwz.1_Missense_Mutation_p.G28E|LGALS9B_uc010vzh.1_Intron	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.	28	Galectin 1.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GATCTGAAATCCGTCCTGGAG	0.567000														69			29		0	0	0.00128727	0	0
TMEM100	55273	broad.mit.edu	37	17	53798413	53798413	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:53798413T>C	uc002iuj.4	-	1	330	c.19A>G	c.(19-21)Aag>Gag	p.K7E	TMEM100_uc002iuk.4_Missense_Mutation_p.K7E|TMEM100_uc021uai.1_Missense_Mutation_p.K7E	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA.	7						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						AGGATCTCCTTGATGGGCTCT	0.502000														58			38		0	0	0.00170553	0	0
TEX14	56155	broad.mit.edu	37	17	56692624	56692624	+	Missense_Mutation	SNP	C	T	T	rs140185813	by1000genomes	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:56692624C>T	uc010dcz.2	-	7	986	c.868G>A	c.(868-870)Gac>Aac	p.D290N	TEX14_uc002iwr.2_Missense_Mutation_p.D284N|TEX14_uc002iws.2_Missense_Mutation_p.D284N|TEX14_uc010dda.2_Missense_Mutation_p.D64N	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	290	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATTAACAAGTCGGCCAGCCGC	0.557000														54			40		0	0	0.000781405	0	0
ZNF835	90485	broad.mit.edu	37	19	57175912	57175912	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:57175912C>T	uc010ygn.2	-	1	882	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TAGGGCCGCTCGCCCGTGTGC	0.711000														2			8		0	0	0.000274275	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918465	51918465	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:51918465G>A	uc002pwo.3	-	6	1522	c.1300C>T	c.(1300-1302)Cag>Tag	p.Q434*	SIGLEC10_uc002pwp.3_Nonsense_Mutation_p.Q376*|SIGLEC10_uc021uyl.1_Nonsense_Mutation_p.Q351*|SIGLEC10_uc002pwq.3_Nonsense_Mutation_p.Q376*|SIGLEC10_uc010ycz.2_Nonsense_Mutation_p.Q386*|SIGLEC10_uc002pws.2_Nonsense_Mutation_p.Q286*|SIGLEC10_uc002pwr.3_Nonsense_Mutation_p.Q434*|SIGLEC10_uc010ycy.2_Nonsense_Mutation_p.Q344*|SIGLEC10_uc010eow.3_Nonsense_Mutation_p.Q246*|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	434	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GAGACGTGCTGGGAGCCCAGT	0.672000														23			25		0	0	0.00127121	0	0
NXN	64359	broad.mit.edu	37	17	708444	708444	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:708444G>A	uc002fsa.3	-	5	944	c.864C>T	c.(862-864)atC>atT	p.I288I	NXN_uc010vqd.2_Intron|NXN_uc010vqe.2_Silent_p.I180I	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.	288	Thioredoxin.				Wnt receptor signaling pathway|cell differentiation|cell redox homeostasis|multicellular organismal development	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CCTGCCGCGTGATCACCTCGC	0.711000														14			6		0	0	8.12818e-05	0	0
TDP2	51567	broad.mit.edu	37	6	24653351	24653351	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:24653351T>C	uc003nej.3	-	5	692	c.667A>G	c.(667-669)Atg>Gtg	p.M223V	TDP2_uc010jpu.1_Missense_Mutation_p.M223V	NM_016614	NP_057698	O95551	TYDP2_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.	223					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TGGGATGTCATAAGGCAAAGC	0.408000								Direct reversal of damage						164			108		0	0	0.000781405	0	0
DNER	92737	broad.mit.edu	37	2	230411738	230411738	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:230411738G>A	uc002vpv.3	-	4	1065	c.918C>T	c.(916-918)acC>acT	p.T306T	DNER_uc010zly.1_Silent_p.T34T	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	306					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CCGGCACACAGGTGCTGACCT	0.468000														55			33		0	0	0.000339439	0	0
MYH1	4619	broad.mit.edu	37	17	10399579	10399579	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:10399579C>T	uc002gmo.3	-	33	5038	c.4944G>A	c.(4942-4944)agG>agA	p.R1648R	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1648				R -> Q (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	ATP binding|actin 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						CTTGGGTGTTCCTATAGTTCC	0.498000														63			29		0	0	0.000491102	0	0
HTT	3064	broad.mit.edu	37	4	3129175	3129175	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:3129175C>T	uc021xkv.1	+	11	1732	c.1587C>T	c.(1585-1587)atC>atT	p.I529I		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	529		Cleavage; by apopain (Potential).			Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGGAGGATATCTTGAGCCACA	0.612000														35			14		0	0	0.000219431	0	0
SPTBN5	51332	broad.mit.edu	37	15	42171653	42171653	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:42171653A>G	uc001zos.3	-	15	3215	c.2882T>C	c.(2881-2883)cTg>cCg	p.L961P		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	996					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACTGTGTGCCAGCTGCACGGC	0.637000														1			4		0	0	0.00024832	0	0
OR8B2	26595	broad.mit.edu	37	11	124253229	124253229	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:124253229C>T	uc010sai.2	-	0	11	c.11G>A	c.(10-12)aGa>aAa	p.R4K	OR8B2_uc001qab.3_Non-coding_Transcript	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGAGTTGTTTCTAGCCAGCAT	0.368000														16			19		0	0	0.00074312	0	0
KIAA1383	54627	broad.mit.edu	37	1	232942697	232942697	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:232942697A>G	uc001hvh.2	+	0	2060	c.1928A>G	c.(1927-1929)aAt>aGt	p.N643S		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	501										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				GGCTTAACAAATACACTAAGA	0.343000														32			16		0	0	0.000566183	0	0
AHNAK	79026	broad.mit.edu	37	11	62300683	62300683	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:62300683G>A	uc001ntl.3	-	4	1506	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	402					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCCAATTTGGGGAGCAGAGG	0.577000														6			15		0	0	0.000308642	0	0
BTBD11	121551	broad.mit.edu	37	12	108029125	108029125	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:108029125C>T	uc001tmk.1	+	11	3216	c.2695C>T	c.(2695-2697)Ccc>Tcc	p.P899S	BTBD11_uc009zut.1_Missense_Mutation_p.P780S|BTBD11_uc001tmj.3_Missense_Mutation_p.P899S|BTBD11_uc001tml.1_Missense_Mutation_p.P436S|BTBD11_uc001tmm.1_5'UTR	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	899						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTACCCCATCCCCAAGCTCAC	0.547000														44			30		0	0	0.000339439	0	0
OR2M3	127062	broad.mit.edu	37	1	248366832	248366832	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:248366832G>A	uc010pzg.2	+	0	463	c.463G>A	c.(463-465)Gat>Aat	p.D155N		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGGCTCTACGGATGGAATTAT	0.473000														154			57		0	0	0.000781405	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64587690	64587690	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:64587690G>A	uc003dmg.3	-	25	3979	c.3947C>T	c.(3946-3948)cCc>cTc	p.P1316L	ADAMTS9_uc011bfo.2_Missense_Mutation_p.P1288L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.P1145L|ADAMTS9_uc011bfp.1_Missense_Mutation_p.P227L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1316					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)		GGCGCTCCGGGGACGATAGTC	0.577000														65			96		0	0	0.000781405	0	0
DMKN	93099	broad.mit.edu	37	19	36004094	36004094	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:36004094A>G	uc002nzm.4	-	0	467	c.284T>C	c.(283-285)tTg>tCg	p.L95S	DMKN_uc002nzj.3_5'Flank|DMKN_uc002nzl.4_5'Flank|DMKN_uc002nzk.4_5'Flank|DMKN_uc002nzo.4_Missense_Mutation_p.L95S|DMKN_uc002nzn.4_Missense_Mutation_p.L95S|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc010xsw.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc002nzx.4_5'Flank|DMKN_uc002nzy.4_5'Flank|DMKN_uc002nzz.3_Missense_Mutation_p.L95S|DMKN_uc002oaa.4_Missense_Mutation_p.L95S|DMKN_uc002oab.4_Missense_Mutation_p.L95S|DMKN_uc002oac.4_Missense_Mutation_p.L95S	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	95	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGTTGCCCAAAGCATCTGC	0.582000														34			11		0	0	0.000673444	0	0
KANSL3	55683	broad.mit.edu	37	2	97279279	97279279	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:97279279G>A	uc002swn.4	-	5	887	c.741C>T	c.(739-741)ctC>ctT	p.L247L	KANSL3_uc002swh.4_Silent_p.L135L|KANSL3_uc002swi.4_Silent_p.L148L|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Silent_p.L160L|KANSL3_uc010fhz.3_Silent_p.L41L|KANSL3_uc002swl.4_Silent_p.L148L|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Silent_p.L41L|KANSL3_uc002swp.1_Silent_p.L148L|KANSL3_uc002swq.1_Silent_p.L19L|KANSL3_uc010fhy.1_Silent_p.L148L	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	247																	TCTTCAGTAGGAGAGACAAGG	0.468000														58			31		0	0	0.00058488	0	0
CYP11A1	1583	broad.mit.edu	37	15	74636166	74636166	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:74636166C>T	uc002axt.2	-	3	948	c.793G>A	c.(793-795)Gac>Aac	p.D265N	CYP11A1_uc002axs.2_Missense_Mutation_p.D107N|CYP11A1_uc010bjm.1_Missense_Mutation_p.D107N|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_Missense_Mutation_p.D45N	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	265					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)	GCCACATGGTCCTTCCAGGTC	0.577000														107			72		0	0	0.000781405	0	0
ITFG2	55846	broad.mit.edu	37	12	2927308	2927308	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:2927308C>T	uc001qlb.2	+	3	411	c.271C>T	c.(271-273)Cat>Tat	p.H91Y	ITFG2_uc001qla.2_Missense_Mutation_p.H91Y|ITFG2_uc010seb.2_Intron|ITFG2_uc010sec.2_Non-coding_Transcript	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 2 (ITFG2), mRNA.	91										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGGCTGGTTTCATTTGTTTGA	0.517000														44			28		0	0	0.00127121	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376200	50376200	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:50376200T>A	uc004dpe.2	-	3	2899	c.2873A>T	c.(2872-2874)aAa>aTa	p.K958I	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.K842I	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	958					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTTCCTGGGTTTCCAAGTGTT	0.483000														11			5		0	0	8.12818e-05	0	0
MYO1D	4642	broad.mit.edu	37	17	31039087	31039087	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:31039087G>A	uc002hho.1	-	15	2052	c.2040C>T	c.(2038-2040)ttC>ttT	p.F680F	MYO1D_uc002hhp.1_Silent_p.F680F	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	680	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GTGTTCGAATGAAAATTTTGG	0.403000														85			78		0	0	0.000781405	0	0
DNAH2	146754	broad.mit.edu	37	17	7668873	7668873	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:7668873C>T	uc002giu.1	+	19	3515	c.3501C>T	c.(3499-3501)ttC>ttT	p.F1167F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1167	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGAAGATTTCGAATTCAAAG	0.483000														41			21		0	0	0.00047179	0	0
PLLP	51090	broad.mit.edu	37	16	57295862	57295862	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:57295862G>A	uc002elg.2	-	1	388	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F		NM_015993	NP_057077	Q9Y342	PLLP_HUMAN	Homo sapiens plasmolipin (PLLP), mRNA.	86	MARVEL.					integral to membrane	ion channel activity			endometrium(1)|prostate(1)	2						AACAGGTAGAGGTTGAAGAGG	0.567000														32			22		0	0	0.000375601	0	0
YTHDC2	64848	broad.mit.edu	37	5	112896808	112896808	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:112896808C>T	uc003kqn.3	+	17	2450	c.2248C>T	c.(2248-2250)Cgt>Tgt	p.R750C	YTHDC2_uc010jcf.2_Missense_Mutation_p.R450C	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	750	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AATTTGTTTTCGTCTGTTCAG	0.353000														33			9		0	0	0.000673444	0	0
GPR64	10149	broad.mit.edu	37	X	19042051	19042051	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:19042051G>A	uc004cyx.3	-	11	728	c.486C>T	c.(484-486)aaC>aaT	p.N162N	GPR64_uc004cze.3_Silent_p.N132N|GPR64_uc004cza.3_Silent_p.N140N|GPR64_uc004czf.3_Silent_p.N124N|GPR64_uc004cyy.3_Silent_p.N159N|GPR64_uc004czc.3_Silent_p.N146N|GPR64_uc004cyz.3_Silent_p.N148N|GPR64_uc004czb.3_Silent_p.N162N|GPR64_uc004czd.3_Silent_p.N138N|GPR64_uc004cyw.3_Silent_p.N146N|GPR64_uc010nfj.3_Silent_p.N132N	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.	162					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GCAGGGTTTTGTTGAGCTCTG	0.358000														37			22		0	0	0.000878237	0	0
MRPS9	64965	broad.mit.edu	37	2	105713766	105713766	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:105713766C>T	uc002tcn.4	+	9	1151	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V		NM_182640	NP_872578	P82933	RT09_HUMAN	Homo sapiens mitochondrial ribosomal protein S9 (MRPS9), nuclear gene encoding mitochondrial protein, mRNA.	361					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGGACGAGGTCGAGTGGATGA	0.557000														26			7		0	0	8.12818e-05	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48523119	48523119	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:48523119T>A	uc002pht.3	+	4	677	c.499T>A	c.(499-501)Ttc>Atc	p.F167I		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	167	Fibronectin type-II 3.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		AAAGTGGAGTTTCTGTGCCGA	0.488000														26			15		0	0	0.000422831	0	0
PRKG2	5593	broad.mit.edu	37	4	82125774	82125774	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:82125774G>A	uc003hmh.2	-	0	441	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PRKG2_uc011cch.1_Missense_Mutation_p.S143F	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	143					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTCTCAAAGGAAAATTCAGG	0.453000														92			117		0	0	0.000781405	0	0
HBXIP	10542	broad.mit.edu	37	1	110950356	110950356	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:110950356G>A	uc001dzr.3	-	0	191	c.133C>T	c.(133-135)Cct>Tct	p.P45S		NM_006402	NP_006393	O43504	HBXIP_HUMAN	Homo sapiens hepatitis B virus x interacting protein (HBXIP), mRNA.	0					anti-apoptosis|negative regulation of caspase activity|response to virus|viral genome replication	cytosol	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9		all_cancers(81;4.08e-06)|all_epithelial(167;4.38e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0237)|all cancers(265;0.0675)|Epithelial(280;0.0732)|Colorectal(144;0.102)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCCTCCAAAGGGACAAAATTG	0.627000														27			8		0	0	0.000673444	0	0
PTPRT	11122	broad.mit.edu	37	20	40790000	40790000	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:40790000C>T	uc002xkg.3	-	16	2858	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K	PTPRT_uc010ggj.3_Missense_Mutation_p.E911K|PTPRT_uc010ggi.3_Missense_Mutation_p.E95K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	892	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.E914K(2)|p.R892W(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCTCGTATTCCTCCTTGAAC	0.557000														37			21		0	0	0.000295444	0	0
ATAD5	79915	broad.mit.edu	37	17	29220499	29220499	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:29220499G>A	uc002hfs.1	+	20	4971	c.4628G>A	c.(4627-4629)aGt>aAt	p.S1543N		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	1543					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GCAACAAAAAGTATGAATTGT	0.353000														56			36		0	0	0.00058488	0	0
ZNF641	121274	broad.mit.edu	37	12	48737346	48737346	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:48737346G>A	uc001rrn.2	-	6	989	c.727C>T	c.(727-729)Ctt>Ttt	p.L243F	ZNF641_uc001rro.2_Missense_Mutation_p.L229F|ZNF641_uc010sls.2_Missense_Mutation_p.L220F	NM_152320	NP_001166152	Q96N77	ZN641_HUMAN	Homo sapiens zinc finger protein 641 (ZNF641), transcript variant 1, mRNA.	243	Transactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TCTTCCTGAAGAAAAGGGGGC	0.532000														30			10		0	0	0.00136819	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022446	51022446	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:51022446G>A	uc002pss.3	-	2	661	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	175						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GAAGGCGTAGGAGGGGATGCT	0.657000														22			14		0	0	0.000308642	0	0
GAR1	54433	broad.mit.edu	37	4	110745127	110745127	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:110745127T>A	uc003hzt.3	+	5	885	c.578T>A	c.(577-579)tTt>tAt	p.F193Y	GAR1_uc003hzu.3_Missense_Mutation_p.F193Y|GAR1_uc010imi.3_Intron	NM_018983	NP_127460	Q9NY12	GAR1_HUMAN	Homo sapiens GAR1 ribonucleoprotein homolog (yeast) (GAR1), transcript variant 1, mRNA.	193	RGG-box 2.				rRNA processing|snRNA pseudouridine synthesis	Cajal body|box H/ACA snoRNP complex	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						TTAGGTGGTTTTAGAGGTGGA	0.313000														31			71		0	0	0.000781405	0	0
AK022914	0	broad.mit.edu	37	14	19856931	19856931	+	RNA	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:19856931C>T	uc001vvq.1	-	4		c.599G>A								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		AACACTTTTTCATAGAATGGC	0.408000														38			7		0	0	0.000157383	0	0
ZNF827	152485	broad.mit.edu	37	4	146823846	146823846	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:146823846A>T	uc003ikn.3	-	1	613	c.565T>A	c.(565-567)Ttt>Att	p.F189I	ZNF827_uc003ikm.3_Missense_Mutation_p.F189I|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	189					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)					TTCCATATAAAACGGTTACTT	0.517000														16			26		0	0	0.000586117	0	0
NOS3	4846	broad.mit.edu	37	7	150696062	150696062	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:150696062G>A	uc003wif.3	+	7	1141	c.845G>A	c.(844-846)gGa>gAa	p.G282E	NOS3_uc011kuy.2_Missense_Mutation_p.G76E|NOS3_uc011kva.2_Missense_Mutation_p.G282E|NOS3_uc011kuz.2_Missense_Mutation_p.G282E|NOS3_uc011kvb.2_Missense_Mutation_p.G282E	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	282	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.G282E(2)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TGGACCCCAGGAAACGGTCGC	0.662000														44			22		0	0	0.000229342	0	0
SLMAP	7871	broad.mit.edu	37	3	57843838	57843838	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:57843838C>T	uc003dje.1	+	6	844	c.639C>T	c.(637-639)ctC>ctT	p.L213L	SLMAP_uc003djc.1_Silent_p.L213L|SLMAP_uc003djd.1_Silent_p.L213L|SLMAP_uc003djf.1_Silent_p.L213L	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	213					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AAGATAGACTCTTATCACGGT	0.303000														36			64		0	0	0.000781405	0	0
HOXB1	3211	broad.mit.edu	37	17	46607022	46607022	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:46607022C>T	uc002ink.1	-	1	799	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	HOXB1_uc021tzf.1_3'UTR	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	265			E -> G (in dbSNP:rs7226137).			nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACCCGACCTTCCTCTCGCTCG	0.622000														62			36		0	0	0.00128727	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967587	41967587	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:41967587A>T	uc010skn.2	+	9	3014	c.3006A>T	c.(3004-3006)aaA>aaT	p.K1002N	PDZRN4_uc001rmq.4_Missense_Mutation_p.K744N|PDZRN4_uc009zjz.3_Missense_Mutation_p.K742N|PDZRN4_uc001rmr.3_Missense_Mutation_p.K629N	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	1002							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAACAAGAAAATTTTGGACA	0.463000														31			13		0	0	0.000151284	0	0
NT5E	4907	broad.mit.edu	37	6	86197192	86197192	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:86197192G>A	uc003pko.4	+	4	1645	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	NT5E_uc010kbr.3_Silent_p.L363L	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	363					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	TGGGCAACCTGATTTGTGATG	0.443000														88			57		0	0	0.000781405	0	0
ZNF749	388567	broad.mit.edu	37	19	57955450	57955450	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:57955450C>T	uc002qoq.2	+	2	1188	c.934C>T	c.(934-936)Cat>Tat	p.H312Y		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TACACAGGCTCATCTGGTTGG	0.438000														36			20		0	0	0.000229342	0	0
C12orf69	440087	broad.mit.edu	37	12	14958949	14958949	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:14958949G>A	uc001rck.1	-	1	739	c.666C>T	c.(664-666)caC>caT	p.H222H	WBP11_uc001rci.3_5'Flank|C12orf60_uc001rcj.4_Intron|C12orf69_uc021qvp.1_Silent_p.H222H	NM_001013698	NP_001013720	A2RU48	CL069_HUMAN	Homo sapiens chromosome 12 open reading frame 69 (C12orf69), mRNA.	222						integral to membrane				large_intestine(1)|lung(1)|skin(1)	3						ATTTCATTTGGTGTTTCACTG	0.368000														57			31		0	0	0.00178596	0	0
CXCR7	57007	broad.mit.edu	37	2	237489792	237489792	+	Silent	SNP	C	T	T	rs143420114		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:237489792C>T	uc021vys.1	+	0	684	c.684C>T	c.(682-684)atC>atT	p.I228I	CXCR7_uc010fyq.3_Silent_p.I228I|CXCR7_uc002vwd.3_Silent_p.I228I	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	228				I -> V (in Ref. 8; AAH36661).	interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		TCTCCATTATCGCTGTCTTCT	0.577000														40			28		0	0	0.00106085	0	0
CD1E	913	broad.mit.edu	37	1	158325209	158325209	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:158325209C>T	uc001fse.3	+	2	768	c.475C>T	c.(475-477)Cca>Tca	p.P159S	CD1E_uc010pid.2_Missense_Mutation_p.P157S|CD1E_uc010pie.2_Missense_Mutation_p.P60S|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.P159S|CD1E_uc001fsf.3_Missense_Mutation_p.P159S|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.P60S|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.P159S|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	159					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.S158Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGAGCCATCTCCAGGAGCAGG	0.468000														55			27		0	0	0.00127121	0	0
HDAC9	9734	broad.mit.edu	37	7	18669046	18669046	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:18669046C>T	uc003sui.3	+	5	779	c.738C>T	c.(736-738)ctC>ctT	p.L246L	HDAC9_uc003sue.3_Silent_p.L243L|HDAC9_uc011jyd.2_Silent_p.L243L|HDAC9_uc003suh.3_Silent_p.L243L|HDAC9_uc003suj.3_Intron|HDAC9_uc011jya.2_Intron|HDAC9_uc003sua.1_Intron|HDAC9_uc003sud.2_Silent_p.L243L|HDAC9_uc011jyc.2_Intron|HDAC9_uc011jyb.2_Intron|HDAC9_uc003suf.2_Silent_p.L274L|HDAC9_uc010kud.2_Silent_p.L246L|HDAC9_uc011jye.2_Silent_p.L215L|HDAC9_uc011jyf.2_Intron|HDAC9_uc010kue.1_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	243	Interaction with ETV6.|Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCCCCTTACTCAGGCGGAAGG	0.473000														24			29		0	0	0.00127121	0	0
TMEM108	66000	broad.mit.edu	37	3	133099320	133099320	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:133099320G>A	uc003epi.3	+	3	1035	c.765G>A	c.(763-765)gcG>gcA	p.A255A	TMEM108_uc003eph.3_Silent_p.A255A|TMEM108_uc003epj.1_Silent_p.A255A|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	255						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CAGTGGCTGCGACCACAGTGC	0.647000														23			9		0	0	0.000442599	0	0
CACNA1G	8913	broad.mit.edu	37	17	48696108	48696108	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:48696108C>T	uc002irk.1	+	32	5892	c.5520C>T	c.(5518-5520)ttC>ttT	p.F1840F	CACNA1G_uc002irj.1_Silent_p.F1806F|CACNA1G_uc002irl.1_Silent_p.F1817F|CACNA1G_uc002irm.1_Silent_p.F1806F|CACNA1G_uc002irn.1_Silent_p.F1799F|CACNA1G_uc002iro.1_Silent_p.F1806F|CACNA1G_uc002irp.1_Silent_p.F1840F|CACNA1G_uc002irq.1_Silent_p.F1817F|CACNA1G_uc002irr.1_Silent_p.F1840F|CACNA1G_uc002irs.1_Silent_p.F1829F|CACNA1G_uc002irt.1_Silent_p.F1822F|CACNA1G_uc002iru.1_Silent_p.F1806F|CACNA1G_uc002irv.1_Silent_p.F1829F|CACNA1G_uc002irw.1_Silent_p.F1817F|CACNA1G_uc002irx.1_Silent_p.F1753F|CACNA1G_uc002iry.1_Silent_p.F1742F|CACNA1G_uc002isg.1_Silent_p.F1701F|CACNA1G_uc002ish.1_Silent_p.F1708F|CACNA1G_uc002isi.1_Silent_p.F1696F|CACNA1G_uc002irz.1_Silent_p.F1746F|CACNA1G_uc002isa.1_Silent_p.F1719F|CACNA1G_uc002isd.1_Silent_p.F1728F|CACNA1G_uc002isb.1_Silent_p.F1760F|CACNA1G_uc002isc.1_Silent_p.F1742F|CACNA1G_uc002ise.1_Silent_p.F1708F|CACNA1G_uc002isf.1_Silent_p.F1735F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1840					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGCCCAGTTCGTGCTAGTCA	0.602000														30			16		0	0	0.000566183	0	0
MAP3K3	4215	broad.mit.edu	37	17	61768530	61768530	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:61768530C>T	uc002jbg.3	+	12	1600	c.1281C>T	c.(1279-1281)taC>taT	p.Y427Y	MAP3K3_uc002jbe.3_Silent_p.Y458Y|MAP3K3_uc002jbf.3_Silent_p.Y458Y|MAP3K3_uc002jbh.3_Silent_p.Y454Y|MAP3K3_uc010wpo.2_Silent_p.Y342Y|MAP3K3_uc010wpp.2_Silent_p.Y423Y	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	427	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						TCGTGCAGTACTATGGCTGTC	0.562000														31			17		0	0	0.000958276	0	0
EYA4	2070	broad.mit.edu	37	6	133834096	133834096	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:133834096G>A	uc011ecs.2	+	15	1755	c.1439G>A	c.(1438-1440)gGg>gAg	p.G480E	EYA4_uc011ecq.2_Missense_Mutation_p.G420E|EYA4_uc011ecr.2_Missense_Mutation_p.G426E|EYA4_uc003qec.4_Missense_Mutation_p.G474E|EYA4_uc003qed.4_Missense_Mutation_p.G474E|EYA4_uc003qee.4_Missense_Mutation_p.G451E|BC041459_uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	474					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GTAAGAGGAGGGGTTGACTGG	0.413000														31			20		0	0	0.00152264	0	0
C9orf135	138255	broad.mit.edu	37	9	72471531	72471531	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:72471531G>A	uc004ahl.3	+	2	387	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	C9orf135_uc011lrw.2_5'UTR|C9orf135_uc010moq.3_5'UTR|C9orf135_uc011lrx.2_Non-coding_Transcript|C9orf135_uc010mop.3_Missense_Mutation_p.E108K	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	Homo sapiens chromosome 9 open reading frame 135 (C9orf135), mRNA.	108						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						AGAATGGGTTGAAATGAAGAG	0.338000														13			19		0	0	0.00152264	0	0
GBE1	2632	broad.mit.edu	37	3	81698054	81698054	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:81698054G>A	uc021xav.1	-	4	926	c.644C>T	c.(643-645)tCt>tTt	p.S215F	GBE1_uc021xax.1_Missense_Mutation_p.S174F	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	215					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		ATGTTTATAAGAAGCTACTTT	0.328000									Glycogen Storage Disease, type IV					26			7		0	0	8.12818e-05	0	0
CLCNKA	1187	broad.mit.edu	37	1	16350333	16350333	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:16350333G>A	uc001axu.3	+	2	219	c.139G>A	c.(139-141)Gga>Aga	p.G47R	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.G47R|CLCNKA_uc001axv.3_Missense_Mutation_p.G47R	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	47					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GTTCCGCCTGGGAGAAGACTG	0.597000														30			21		0	0	0.000375601	0	0
DNAH1	25981	broad.mit.edu	37	3	52426985	52426985	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:52426985C>T	uc011bef.2	+	64	10679	c.10418C>T	c.(10417-10419)tCc>tTc	p.S3473F	DNAH1_uc003ddv.3_Missense_Mutation_p.S331F	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3538	AAA 5 (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)		TACCAGTACTCCCTTGAGTGG	0.582000														66			40		0	0	0.000680045	0	0
SLC12A8	84561	broad.mit.edu	37	3	124810994	124810994	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:124810994G>A	uc003ehw.4	-	10	1911	c.1841C>T	c.(1840-1842)tCc>tTc	p.S614F	SLC12A8_uc003ehv.4_Missense_Mutation_p.S585F|SLC12A8_uc003eht.4_Missense_Mutation_p.S386F|SLC12A8_uc010hry.3_Intron	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	585					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GAAAGAAGTGGATCTTCTCCA	0.453000														55			31		0	0	0.00058488	0	0
RPTN	126638	broad.mit.edu	37	1	152129412	152129412	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:152129412C>T	uc001ezs.1	-	2	228	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	55	EF-hand 2.|S-100-like (By similarity).					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						AAGATGGTTTCCACAGTCTCT	0.418000														57			16		0	0	0.000958276	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336727	30336727	+	Missense_Mutation	SNP	T	A	A	rs112079947	by1000genomes	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:30336727T>A	uc009xle.2	-	1	152	c.15A>T	c.(13-15)gaA>gaT	p.E5D	KIAA1462_uc001iux.3_Missense_Mutation_p.E5D|KIAA1462_uc001iuy.3_Missense_Mutation_p.E5D|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	5										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGGAGGTCTTCTACACTGT	0.567000														16			28		0	0	0.001512	0	0
FFAR3	2865	broad.mit.edu	37	19	35850524	35850524	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:35850524C>T	uc002nzd.3	+	1	807	c.732C>T	c.(730-732)tcC>tcT	p.S244S	FFAR3_uc021usm.1_Silent_p.S244S	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	244						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.V243V(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ACAACGTGTCCCATGTCGTGG	0.622000														87			32		0	0	0.000953801	0	0
GRIP2	80852	broad.mit.edu	37	3	14547163	14547163	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:14547163G>A	uc021wtn.1	-	21	2821	c.2821C>T	c.(2821-2823)Cca>Tca	p.P941S	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	845	PDZ 7.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TCCTCCTCTGGAAAGCTCTCG	0.677000														0			3		0	0	0.00024832	0	0
DNAH8	1769	broad.mit.edu	37	6	38885135	38885135	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:38885135G>A	uc021yzh.1	+	68	10370	c.10261G>A	c.(10261-10263)Gat>Aat	p.D3421N	DNAH8_uc003ooe.2_Missense_Mutation_p.D3204N|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.P3421P(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTACTATGGATCCAGAAAA	0.398000														44			27		0	0	0.000878237	0	0
WDFY3	23001	broad.mit.edu	37	4	85731479	85731479	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:85731479G>A	uc003hpd.3	-	13	2314	c.1906C>T	c.(1906-1908)Cga>Tga	p.R636*	WDFY3_uc003hpf.3_Nonsense_Mutation_p.R636*	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	636						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGGCTTTCTCGAAGGACCGAC	0.383000														9			13		0	0	0.000151284	0	0
C20orf79	140856	broad.mit.edu	37	20	18794514	18794514	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:18794514G>A	uc002wrk.3	+	0	145	c.55G>A	c.(55-57)Gtg>Atg	p.V19M	C20orf78_uc002wrj.2_Intron	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN	Homo sapiens chromosome 20 open reading frame 79 (C20orf79), mRNA.	19							sterol binding			NS(1)|breast(1)|large_intestine(2)|lung(4)|skin(4)	12						TGGACCTCTGGTGGGCCAGTT	0.517000														29			15		0	0	0.000422831	0	0
NPHP4	261734	broad.mit.edu	37	1	5964795	5964795	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:5964795G>A	uc001alq.2	-	15	2293	c.2025C>T	c.(2023-2025)ttC>ttT	p.F675F	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	675					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)		TTGCGGGTGGGAAGCGGTAGA	0.597000														52			30		0	0	0.000953801	0	0
ABCA11P	79963	broad.mit.edu	37	4	438156	438156	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:438156G>A	uc003gaf.4	-	2	422	c.196C>T	c.(196-198)Ctt>Ttt	p.L66F	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Missense_Mutation_p.L66F|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.L34F|ABCA11P_uc010ibe.3_Missense_Mutation_p.L22F	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		CTCAGTATAAGTTTGTGGAAT	0.348000														33			43		0	0	0.00170553	0	0
RYR3	6263	broad.mit.edu	37	15	33855110	33855110	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:33855110G>A	uc001zhi.3	+	10	1115	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R	RYR3_uc010bar.3_Missense_Mutation_p.G349R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	349	MIR 5.				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)		AATCAAGTATGGAGATTCTGT	0.438000														45			25		0	0	0.000720815	0	0
ABCA13	154664	broad.mit.edu	37	7	48308582	48308582	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:48308582C>T	uc003toq.2	+	15	2035	c.2011C>T	c.(2011-2013)Cct>Tct	p.P671S	ABCA13_uc010kyr.2_Missense_Mutation_p.P174S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	671					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						TTTAGCTTTTCCTGAGGAATC	0.289000														16			24		0	0	0.00047179	0	0
AVEN	57099	broad.mit.edu	37	15	34295320	34295320	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:34295320G>A	uc001zhj.3	-	1	414	c.358C>T	c.(358-360)Cga>Tga	p.R120*	CHRM5_uc001zhk.1_Intron	NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	Homo sapiens apoptosis, caspase activation inhibitor (AVEN), mRNA.	120					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding	p.R120Q(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TCTTGATATCGATCCCAGTTA	0.403000														46			27		0	0	0.000720815	0	0
SYVN1	84447	broad.mit.edu	37	11	64900952	64900952	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:64900952G>A	uc001odb.3	-	1	215	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	SYVN1_uc001odc.3_Missense_Mutation_p.P41S|SYVN1_uc009yqc.3_Missense_Mutation_p.P41S	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA.	41					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GCCATGCTGGGGCTGGACTTG	0.637000														13			19		0	0	0.000295444	0	0
KIAA1024	23251	broad.mit.edu	37	15	79755596	79755596	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:79755596C>T	uc002bew.1	+	2	2561	c.2486C>T	c.(2485-2487)tCt>tTt	p.S829F	KIAA1024_uc010unk.1_Missense_Mutation_p.S829F	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	829						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGCCAACCTTCTTGGACCATT	0.627000														43			38		0	0	0.00148497	0	0
TNXB	7148	broad.mit.edu	37	6	32063453	32063453	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:32063453C>T	uc003nzl.2	-	2	2379	c.2177G>A	c.(2176-2178)cGa>cAa	p.R726Q		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	726	EGF-like 19.				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						ACACTCTCCTCGGCCACGGCA	0.637000														135			83		0	0	0.000781405	0	0
CCR2	729230	broad.mit.edu	37	3	46399601	46399601	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:46399601C>T	uc003cpn.4	+	1	1068	c.583C>T	c.(583-585)Cca>Tca	p.P195S	CCR2_uc003cpm.4_Missense_Mutation_p.P195S|CCR2_uc021wxa.1_Missense_Mutation_p.P195S	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	195					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CCCTTATTTTCCACGAGGATG	0.453000														211			134		0	0	0.000781405	0	0
C1orf168	199920	broad.mit.edu	37	1	57258437	57258437	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:57258437G>A	uc001cym.4	-	1	455	c.49C>T	c.(49-51)Caa>Taa	p.Q17*	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Nonsense_Mutation_p.Q17*	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	17										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCAAGATTTTGAAATTTGGCT	0.388000														174			84		0	0	0.000781405	0	0
ZNF135	7694	broad.mit.edu	37	19	58578608	58578608	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:58578608G>A	uc002qrg.3	+	3	831	c.828G>A	c.(826-828)cgG>cgA	p.R276R	ZNF135_uc002qre.3_Silent_p.R252R|ZNF135_uc002qrf.3_Silent_p.R210R|ZNF135_uc010yhq.2_Silent_p.R264R|ZNF135_uc010yhr.2_Silent_p.R73R|ZNF135_uc002qrd.2_Silent_p.R264R|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	264					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.C275fs*21(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AAGGCTTCCGGAACAGCTCGG	0.507000														67			44		0	0	0.000680045	0	0
OBSL1	23363	broad.mit.edu	37	2	220431639	220431639	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:220431639G>A	uc010fwk.3	-	4	2361	c.2047C>T	c.(2047-2049)Ctg>Ttg	p.L683L	OBSL1_uc010fwl.2_Silent_p.L683L|OBSL1_uc002vmi.3_Silent_p.L683L	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	683					cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACGGCATGCAGGATGAGTCTG	0.622000														26			20		0	0	0.000229342	0	0
PRIM2	5558	broad.mit.edu	37	6	57512661	57512661	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:57512661G>A	uc003pdx.3	+	14	1573	c.1486G>A	c.(1486-1488)Gat>Aat	p.D496N		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	497					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TCTGGAAATGGATATGGAAGG	0.403000														446			67		0	0	0.000781405	0	0
GPR116	221395	broad.mit.edu	37	6	46874485	46874485	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:46874485C>T	uc003oyo.3	-	1	304	c.15G>A	c.(13-15)agG>agA	p.R5R	GPR116_uc003oyp.3_Silent_p.R5R|GPR116_uc003oyq.3_Silent_p.R5R|GPR116_uc003oyr.2_Silent_p.R5R|BC042990_uc003oys.3_Intron	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	5					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAGTGGTTCTCCTTGGGGATT	0.358000														44			32		0	0	0.00058488	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910666	230910666	+	Silent	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:230910666A>T	uc002vqd.2	-	3	1635	c.1176T>A	c.(1174-1176)ctT>ctA	p.L392L	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.L392L|SLC16A14_uc002vqf.3_Silent_p.L392L	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	392						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TACTGAGGACAAGGGTGAAGT	0.478000														31			13		0	0	0.000151284	0	0
MATN3	4148	broad.mit.edu	37	2	20202958	20202958	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:20202958C>T	uc002rdl.3	-	2	943	c.880G>A	c.(880-882)Gga>Aga	p.G294R	MATN3_uc010exu.1_Intron	NM_002381	NP_002372	O15232	MATN3_HUMAN	Homo sapiens matrilin 3 (MATN3), mRNA.	294	EGF-like 1.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGTGTATCCTTGGCTACAC	0.542000														29			19		0	0	0.00074312	0	0
MCRS1	10445	broad.mit.edu	37	12	49952686	49952686	+	Silent	SNP	G	A	A	rs144884321		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:49952686G>A	uc001rui.1	-	12	1281	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	MCRS1_uc001ruj.2_Silent_p.I401I|MCRS1_uc001ruk.1_Silent_p.I414I|MCRS1_uc009zlj.1_Silent_p.I223I	NM_001012300	NP_001012300	Q96EZ8	MCRS1_HUMAN	Homo sapiens microspherule protein 1 (MCRS1), transcript variant 2, mRNA.	414					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|cytoplasm|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						GCCGTCCATCGATGTAGATGG	0.552000														37			24		0	0	0.000586117	0	0
QPCT	25797	broad.mit.edu	37	2	37586815	37586815	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:37586815C>T	uc002rqg.3	+	2	482	c.360C>T	c.(358-360)ttC>ttT	p.F120F		NM_012413	NP_036545	Q16769	QPCT_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase (QPCT), mRNA.	120					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				ACCGGTCTTTCTCAAATATCA	0.478000														26			19		0	0	0.00074312	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914545	147914545	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:147914545A>C	uc003weu.2	+	18	3692	c.3176A>C	c.(3175-3177)aAg>aCg	p.K1059T		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1059	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGCACCACCAAGGCGCCCTGC	0.587000										HNSCC(39;0.1)				55			52		0	0	0.000781405	0	0
SCNN1A	6337	broad.mit.edu	37	12	6464564	6464564	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:6464564G>A	uc001qnw.3	-	4	1458	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	SCNN1A_uc001qnv.3_Silent_p.F39F|SCNN1A_uc001qnx.3_Silent_p.F339F|SCNN1A_uc010sfb.2_Silent_p.F362F	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	339					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GCAGGGGAATGAAGTCATTCT	0.572000														13			6		0	0	8.12818e-05	0	0
FOXN1	8456	broad.mit.edu	37	17	26861982	26861983	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:26861982_26861983CC>TT	uc010crm.3	+	7	1591_1592	c.1393_1394CC>TT	c.(1393-1395)cct>TTt	p.P465F	FOXN1_uc002hbj.3_Missense_Mutation_p.P465F	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	465					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCTGGCCCCTCCTGGACCCCCG	0.668000														13			5		0	0	6.4e-05	0	0
HIF1A	3091	broad.mit.edu	37	14	62205038	62205038	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:62205038C>A	uc001xfq.2	+	9	1887	c.1483C>A	c.(1483-1485)Cag>Aag	p.Q495K	HIF1A_uc001xfr.2_Missense_Mutation_p.Q495K|HIF1A_uc001xfs.2_Missense_Mutation_p.Q496K|HIF1A_uc021rua.1_Missense_Mutation_p.Q519K	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 1, mRNA.	495	ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		GCCCCAGATTCAGGATCAGAC	0.418000														155			89		2.18907e-53	1.2387e-52	0.000781405	1	0
BCS1L	617	broad.mit.edu	37	2	219525811	219525811	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:219525811A>G	uc002vip.3	+	2	447	c.101A>G	c.(100-102)aAg>aGg	p.K34R	ZNF142_uc002vin.3_5'Flank|ZNF142_uc010fvt.3_5'Flank|ZNF142_uc002vim.3_5'Flank|BCS1L_uc002viq.3_Missense_Mutation_p.K34R|BCS1L_uc010fvu.3_Missense_Mutation_p.K34R|BCS1L_uc010fvv.3_Missense_Mutation_p.K34R|BCS1L_uc002vis.3_Missense_Mutation_p.K34R|BCS1L_uc021vwz.1_Missense_Mutation_p.K34R	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	Homo sapiens BCS1-like (S. cerevisiae) (BCS1L), transcript variant 1, mRNA.	34					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGCCCGGAAGGGTGTCCAA	0.582000														59			26		0	0	0.00106085	0	0
APOB	338	broad.mit.edu	37	2	21231795	21231795	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:21231795C>T	uc002red.3	-	25	8073	c.7945G>A	c.(7945-7947)Gaa>Aaa	p.E2649K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2649					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)	ATGGTAAATTCTGGTGTGGAA	0.353000														313			188		0	0	0.000781405	0	0
OR4K14	122740	broad.mit.edu	37	14	20482421	20482421	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:20482421C>T	uc010tky.2	-	1	933	c.933_splice	c.e1+1	p.*311_splice		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCTGGATTTCATTGAAAAGT	0.353000														100			47		0	0	0.000781405	0	0
TDRD5	163589	broad.mit.edu	37	1	179631290	179631290	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:179631290G>A	uc010pnp.2	+	14	2892	c.2374G>A	c.(2374-2376)Gat>Aat	p.D792N	TDRD5_uc021pfm.1_Missense_Mutation_p.D738N|TDRD5_uc001gnf.2_Missense_Mutation_p.D738N|TDRD5_uc021pfn.1_Missense_Mutation_p.D792N|TDRD5_uc001gnh.2_Missense_Mutation_p.D293N	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	790					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CATAGGTGATGATATTTGGGA	0.423000														43			31		0	0	0.00058488	0	0
SLC9A6	10479	broad.mit.edu	37	X	135104756	135104756	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:135104756C>T	uc004ezk.3	+	10	1438	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	SLC9A6_uc011mvx.2_Silent_p.F402F|SLC9A6_uc004ezj.3_Silent_p.F422F	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	422					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTGCTATTTTCTTGGGAAGAG	0.313000														49			24		0	0	0.00106085	0	0
GTF2E2	2961	broad.mit.edu	37	8	30511065	30511065	+	Silent	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:30511065A>T	uc003xig.3	-	1	304	c.51T>A	c.(49-51)ctT>ctA	p.L17L		NM_002095	NP_002086	P29084	T2EB_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 2, beta 34kDa (GTF2E2), mRNA.	17					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CAGGAGTAGAAAGAGCTCGTT	0.383000														39			25		0	0	0.000375601	0	0
NUP93	9688	broad.mit.edu	37	16	56866247	56866247	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:56866247C>T	uc002eka.3	+	11	1413	c.1292C>T	c.(1291-1293)cCa>cTa	p.P431L	NUP93_uc002ekb.3_Missense_Mutation_p.P308L|NUP93_uc010vhi.2_Missense_Mutation_p.P308L	NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	431					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACCAGCTCCCCACAAGACAGG	0.473000														51			21		0	0	0.000720815	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28271830	28271830	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:28271830C>T	uc001bpg.3	+	1	340	c.149C>T	c.(148-150)tCc>tTc	p.S50F	SMPDL3B_uc001bpf.3_Missense_Mutation_p.S50F|SMPDL3B_uc010ofq.2_5'UTR|SMPDL3B_uc010ofr.2_Missense_Mutation_p.S50F	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	50					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TCAGCTGGATCCCAGCCAGTG	0.577000														26			12		0	0	0.000978159	0	0
CCDC22	28952	broad.mit.edu	37	X	49099887	49099887	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:49099887G>A	uc004dnd.2	+	5	843	c.673G>A	c.(673-675)Gat>Aat	p.D225N	CCDC22_uc011mna.2_Missense_Mutation_p.D225N	NM_014008	NP_054727	O60826	CCD22_HUMAN	Homo sapiens coiled-coil domain containing 22 (CCDC22), mRNA.	225										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CCGGCCAGGGGATGAGGACTG	0.677000														4			3		0	0	6.4e-05	0	0
TNXB	7148	broad.mit.edu	37	6	32017250	32017250	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:32017250G>A	uc003nzl.2	-	27	9750	c.9548C>T	c.(9547-9549)tCc>tTc	p.S3183F	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3230	Fibronectin type-III 23.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GACGGTCCAGGAGAGGCTCAG	0.682000														194			125		0	0	0.000781405	0	0
ZNF498	221785	broad.mit.edu	37	7	99221679	99221679	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:99221679G>A	uc003url.1	+	7	1009	c.682_splice	c.e7-1	p.G228_splice	ZNF498_uc003urm.1_Splice_Site_p.G64_splice|ZNF498_uc010lge.1_Splice_Site_p.G64_splice|ZNF498_uc003urn.3_Splice_Site|ZNF498_uc010lgf.1_Intron|ZNF498_uc003uro.1_Splice_Site_p.G12_splice	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	Homo sapiens zinc finger protein 498 (ZNF498), mRNA.	228					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(1)	24	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TATTGTTGCAGGGGTTGGGGC	0.512000														96			44		0	0	0.000781405	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148685890	148685890	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:148685890C>T	uc003lqh.3	+	5	589	c.458C>T	c.(457-459)tCg>tTg	p.S153L	AFAP1L1_uc003lqg.4_Missense_Mutation_p.S153L|AFAP1L1_uc010jgy.3_Missense_Mutation_p.S153L	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	153							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCACACTCGATTGTGGAT	0.582000														11			5		0	0	0.000602214	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604849	58604849	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:58604849G>A	uc001nnd.4	-	3	339	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	GLYATL2_uc009ymq.3_Missense_Mutation_p.H70Y	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	70						mitochondrion	glycine N-acyltransferase activity	p.D69N(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TTGGTATAATGATCCTGGTCA	0.373000														17			28		0	0	0.001512	0	0
OR1I1	126370	broad.mit.edu	37	19	15198637	15198637	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:15198637C>G	uc010xoe.2	+	0	761	c.761C>G	c.(760-762)aCc>aGc	p.T254S		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TCCTATGGGACCATCTTTGCT	0.542000														15			3		0	0	6.4e-05	0	0
SMARCC2	6601	broad.mit.edu	37	12	56566415	56566415	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:56566415A>G	uc001skb.3	-	17	1830	c.1724T>C	c.(1723-1725)tTt>tCt	p.F575S	SMARCC2_uc001skd.3_Missense_Mutation_p.F606S|SMARCC2_uc001ska.3_Missense_Mutation_p.F606S|SMARCC2_uc001skc.3_Missense_Mutation_p.F605S|SMARCC2_uc010sqf.2_Missense_Mutation_p.F495S	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	575					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCGCAGCCCAAAGTTTTGCAT	0.488000														51			32		0	0	0.000339439	0	0
SIDT1	54847	broad.mit.edu	37	3	113342554	113342554	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:113342554T>A	uc021xcn.1	+	23	2947	c.2296T>A	c.(2296-2298)Ttc>Atc	p.F766I	SIDT1_uc003eak.3_Missense_Mutation_p.F761I|SIDT1_uc011big.2_Missense_Mutation_p.F514I|SIDT1_uc021xcq.1_Missense_Mutation_p.F220I|SIDT1_uc011bii.2_Missense_Mutation_p.F214I	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	761						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCTATATTTTTTCTTCCAGAA	0.532000														51			38		0	0	0.000374591	0	0
HEXDC	284004	broad.mit.edu	37	17	80382276	80382276	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:80382276C>T	uc002kev.4	+	2	507	c.91C>T	c.(91-93)Cct>Tct	p.P31S	HEXDC_uc002kew.3_Missense_Mutation_p.P31S	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	31					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCAGATTTTTCCTCTGTTCCG	0.567000														41			25		0	0	0.00127121	0	0
EPHX1	2052	broad.mit.edu	37	1	226019641	226019641	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:226019641C>T	uc001hpk.3	+	2	425	c.345C>T	c.(343-345)caC>caT	p.H115H	EPHX1_uc001hpl.3_Silent_p.H115H	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	115					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GATACCCTCACTTCAAGACTA	0.438000														49			17		0	0	0.00152264	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337235	144337235	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:144337235G>A	uc004fcb.2	+	1	120	c.120G>A	c.(118-120)ttG>ttA	p.L40L		NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN	Homo sapiens SPANX family, member N1 (SPANXN1), mRNA.	40										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AACCGAGTTTGAAAAAGATGA	0.408000														45			26		0	0	0.000586117	0	0
CPS1	1373	broad.mit.edu	37	2	211455618	211455618	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:211455618C>T	uc010fur.3	+	9	1035	c.953C>T	c.(952-954)tCc>tTc	p.S318F	CPS1_uc002vee.4_Missense_Mutation_p.S312F|CPS1_uc010fus.3_5'Flank	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	312	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TACAAGATGTCCATGGCCAAC	0.408000														70			34		0	0	0.000491102	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54676196	54676196	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:54676196C>T	uc003dhf.3	+	10	1143	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.I271I|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.I99I|ESRG_uc003dhj.3_5'Flank	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	365	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.A364S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GTCAGGCCATCATGCTCATAA	0.428000														8			16		0	0	0.00121646	0	0
AKAP4	8852	broad.mit.edu	37	X	49955652	49955652	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:49955652C>T	uc004dow.1	-	5	2640	c.2516G>A	c.(2515-2517)gGa>gAa	p.G839E	AKAP4_uc004dou.1_Missense_Mutation_p.G830E|AKAP4_uc004dov.1_Missense_Mutation_p.G456E|AKAP4_uc010njp.1_Missense_Mutation_p.G661E	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	839					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GGCCACCTTTCCCACAGCTTC	0.527000														57			18		0	0	0.00074312	0	0
RASEF	158158	broad.mit.edu	37	9	85640753	85640753	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr9:85640753T>C	uc004amo.1	-	1	776	c.515A>G	c.(514-516)aAc>aGc	p.N172S		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	172					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACGGATGAAGTTCTTTATAAC	0.393000														37			57		0	0	0.000781405	0	0
DLGAP2	9228	broad.mit.edu	37	8	1624744	1624744	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:1624744G>T	uc003wpl.3	+	7	2105	c.2008G>T	c.(2008-2010)Gaa>Taa	p.E670*	DLGAP2_uc003wpm.3_Nonsense_Mutation_p.E656*	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	749					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGGTCTGCGGGAATACCACTC	0.562000														3			6		5.18039e-06	2.904e-05	0.000157383	1	0
TMEM35	59353	broad.mit.edu	37	X	100349720	100349720	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:100349720C>T	uc004egw.3	+	1	435	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	Homo sapiens transmembrane protein 35 (TMEM35), mRNA.	93						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						CCAACTTCTTCCTACTGTTGC	0.537000														94			54		0	0	0.000781405	0	0
A4GALT	53947	broad.mit.edu	37	22	43089095	43089095	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:43089095G>A	uc003bdb.3	-	2	1124	c.863C>T	c.(862-864)cCc>cTc	p.P288L	A4GALT_uc021wqo.1_Missense_Mutation_p.P288L|A4GALT_uc021wqp.1_Missense_Mutation_p.P288L|A4GALT_uc010gzd.3_Missense_Mutation_p.P288L|A4GALT_uc021wqq.1_Missense_Mutation_p.P288L	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	288					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GTCCTGCCAGGGGATGGGGTA	0.637000														5			8		0	0	0.000673444	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040616	147040616	+	Silent	SNP	G	A	A	rs149958309		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:147040616G>A	uc010jgo.1	-	1	670	c.522C>T	c.(520-522)atC>atT	p.I174I	JAKMIP2_uc003loq.1_Silent_p.I174I|JAKMIP2_uc011dbx.1_Silent_p.I132I|JAKMIP2_uc003lor.1_Silent_p.I174I|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	174						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATCTGCTTGGATCATATTGC	0.522000														113			72		0	0	0.000781405	0	0
ZNF831	128611	broad.mit.edu	37	20	57829535	57829535	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr20:57829535C>T	uc002yan.3	+	4	4771	c.4771C>T	c.(4771-4773)Cct>Tct	p.P1591S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1591						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GACGTTTTTTCCTTCCAGAGG	0.478000														45			38		0	0	0.00111076	0	0
FAT3	120114	broad.mit.edu	37	11	92534542	92534543	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:92534542_92534543CC>AA	uc001pdj.4	+	8	8380_8381	c.8363_8364CC>AA	c.(8362-8364)ccc>cAA	p.P2788Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2788	Cadherin 25.				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)				GCCACTATACCCCTGGACAAAG	0.416000										TCGA Ovarian(4;0.039)				277			9		0	0	6.4e-05	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255150	9255150	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:9255150C>T	uc002knv.3	+	8	2149	c.1885C>T	c.(1885-1887)Cat>Tat	p.H629Y	ANKRD12_uc002knw.3_Missense_Mutation_p.H606Y|ANKRD12_uc002knx.3_Missense_Mutation_p.H606Y|ANKRD12_uc010dkx.1_Missense_Mutation_p.H336Y	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	629						nucleus		p.H629Y(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GGATGAAGATCATAGTCCAAC	0.284000														15			33		0	0	0.000409698	0	0
MUC16	94025	broad.mit.edu	37	19	9059483	9059483	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9059483G>A	uc002mkp.3	-	2	28167	c.27963C>T	c.(27961-27963)tcC>tcT	p.S9321S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9323	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						CTTCTGTCCTGGAGACCTCAG	0.498000														60			31		0	0	0.000491102	0	0
TTC3	7267	broad.mit.edu	37	21	38538400	38538400	+	Missense_Mutation	SNP	C	T	T	rs34414190		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:38538400C>T	uc002yvz.3	+	32	3989	c.3884C>T	c.(3883-3885)tCc>tTc	p.S1295F	TTC3_uc011aee.1_Missense_Mutation_p.S985F|TTC3_uc002ywa.3_Missense_Mutation_p.S1295F|TTC3_uc002ywb.3_Missense_Mutation_p.S1295F|TTC3_uc010gnf.3_Missense_Mutation_p.S1060F|TTC3_uc002ywc.3_Missense_Mutation_p.S985F|TTC3_uc002ywd.1_Missense_Mutation_p.S359F	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1295					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)				TCCTGTAATTCCCCCAAACCG	0.448000														66			36		0	0	0.000953801	0	0
TRANK1	9881	broad.mit.edu	37	3	36899226	36899226	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:36899226G>A	uc003cgj.3	-	11	2103	c.1855C>T	c.(1855-1857)Cac>Tac	p.H619Y		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	619					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCCCCAGGTGGGCAGCAGAG	0.567000														75			39		0	0	0.00128727	0	0
COL3A1	1281	broad.mit.edu	37	2	189862072	189862072	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:189862072G>A	uc002uqj.1	+	25	1943	c.1826G>A	c.(1825-1827)gGa>gAa	p.G609E		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	609	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTCCTCCTGGAAAGAATGGT	0.443000														30			23		0	0	0.000586117	0	0
IQCD	115811	broad.mit.edu	37	12	113645327	113645327	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:113645327G>A	uc001tuu.3	-	1	817	c.645C>T	c.(643-645)atC>atT	p.I215I		NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	Homo sapiens IQ motif containing D (IQCD), mRNA.	215										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TCTGTCTACTGATATCCTGTA	0.398000														53			25		0	0	0.000586117	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267668	43267668	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:43267668G>A	uc021yzt.1	+	4	790	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	SLC22A7_uc010jyl.1_Missense_Mutation_p.V232M|SLC22A7_uc003ous.3_Missense_Mutation_p.V229M|SLC22A7_uc003out.3_Missense_Mutation_p.V229M	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	231						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCACCGCACCGTGGCTGGAGT	0.607000														43			27		0	0	0.00127121	0	0
ANKFN1	162282	broad.mit.edu	37	17	54428267	54428267	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:54428267C>T	uc002iun.1	+	3	373	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	113										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AGCCACTCTTCCTTCGATGAG	0.453000														42			30		0	0	0.001512	0	0
SHROOM2	357	broad.mit.edu	37	X	9900704	9900704	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:9900704G>A	uc004csu.1	+	5	3471	c.3381G>A	c.(3379-3381)ccG>ccA	p.P1127P	SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1127					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGGACACCCCGAAGGCCACTG	0.657000														19			10		0	0	0.000442599	0	0
CFH	3075	broad.mit.edu	37	1	196884113	196884114	+	Missense_Mutation	DNP	CA	TC	TC			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:196884113_196884114CA>TC	uc001gtp.3	+	8	1522_1523	c.1385_1386CA>TC	c.(1384-1386)cca>cTC	p.P462L	CFH_uc021pgt.1_Missense_Mutation_p.P85L|CFH_uc009wyy.3_Missense_Mutation_p.P461L|CFH_uc001gto.3_Missense_Mutation_p.P215L	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	815	Sushi 8.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGGCCTCCTCCACCTATTAGCA	0.371000														55			22		0	0	6.4e-05	0	0
OR5P2	120065	broad.mit.edu	37	11	7818388	7818388	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:7818388G>A	uc001mfp.1	-	0	102	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TACCAGATAGGATGATCATGA	0.433000														7			22		0	0	0.000229342	0	0
KIAA0355	9710	broad.mit.edu	37	19	34843722	34843722	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:34843722C>T	uc002nvd.4	+	13	3934	c.3075C>T	c.(3073-3075)gaC>gaT	p.D1025D		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	1025										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CAACCAACGACTGCAGTGCCG	0.652000														5			4		0	0	0.00024832	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41061769	41061770	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:41061769_41061770GG>AA	uc003jmj.4	-	5	1007_1008	c.517_518CC>TT	c.(517-519)ccc>TTc	p.P173F	HEATR7B2_uc021xxt.1_Missense_Mutation_p.P173F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	173							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TCTGGGGTAGGGAAAATCTCTC	0.450000														66			30		0	0	6.4e-05	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41065470	41065470	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:41065470G>A	uc003jmj.4	-	3	814	c.324C>T	c.(322-324)ttC>ttT	p.F108F	HEATR7B2_uc021xxt.1_Silent_p.F108F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	108							binding	p.F108F(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CAAGCACAACGAATTCATCTG	0.418000														24			11		0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179580319	179580319	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:179580319C>T	uc021vsy.1	-	85	22315	c.22090G>A	c.(22090-22092)Gaa>Aaa	p.E7364K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E4025K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8291	Ig-like 55.						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)			TTGTGCATTTCCAGCACAGCC	0.458000														35			15		0	0	0.000308642	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376392	50376392	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:50376392C>T	uc004dpe.2	-	3	2707	c.2681G>A	c.(2680-2682)gGa>gAa	p.G894E	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.G778E	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	894	Cys-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GACTAGAGCTCCTTGAACACT	0.448000														28			17		0	0	0.000422831	0	0
SGSM3	27352	broad.mit.edu	37	22	40803434	40803434	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr22:40803434T>A	uc003ayu.1	+	12	1595	c.1386T>A	c.(1384-1386)taT>taA	p.Y462*	SGSM3_uc011aos.1_Nonsense_Mutation_p.Y395*|SGSM3_uc011aot.1_Nonsense_Mutation_p.Y399*	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	462					Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CTCCAGACTATAGCATGGAGA	0.642000														11			15		0	0	0.000308642	0	0
WDR65	149465	broad.mit.edu	37	1	43663223	43663223	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:43663223G>A	uc021omk.1	+	7	1269	c.1123_splice	c.e7-1	p.G375_splice	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Splice_Site_p.G364_splice|WDR65_uc001ciq.2_Splice_Site_p.G375_splice|WDR65_uc001cip.2_Splice_Site_p.G375_splice	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	375										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATTTCTCTAGGGGGAGCCTG	0.483000														76			56		0	0	0.000781405	0	0
ZNF578	147660	broad.mit.edu	37	19	53015010	53015010	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:53015010A>T	uc002pzp.4	+	5	1620	c.1376A>T	c.(1375-1377)gAa>gTa	p.E459V		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAATGTGAAGAATGTGACAGA	0.383000														35			27		0	0	0.00106085	0	0
VPS13C	54832	broad.mit.edu	37	15	62205598	62205598	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:62205598G>A	uc002agz.3	-	61	8553	c.8462C>T	c.(8461-8463)tCa>tTa	p.S2821L	VPS13C_uc002aha.3_Missense_Mutation_p.S2778L|VPS13C_uc002ahb.2_Missense_Mutation_p.S2821L|VPS13C_uc002ahc.2_Missense_Mutation_p.S2778L|VPS13C_uc002ahd.1_Missense_Mutation_p.S198L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2821					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GGCACTGGTTGAAATTTTTAA	0.378000														66			32		0	0	0.00058488	0	0
ARHGDIA	396	broad.mit.edu	37	17	79827439	79827439	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:79827439G>A	uc021uff.1	-	2	559	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S	AK293147_uc021ufe.1_5'Flank|ARHGDIA_uc002kbq.3_Missense_Mutation_p.P85S|ARHGDIA_uc021ufg.1_Missense_Mutation_p.P85S|ARHGDIA_uc010dig.2_Non-coding_Transcript	NM_001185077	NP_004300	P52565	GDIR1_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 1, mRNA.	85					Rho protein signal transduction|anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction	cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity|identical protein binding			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGCTCCAGGGGGCCCGGGGCC	0.746000														7			4		0	0	0.00024832	0	0
LILRA1	11024	broad.mit.edu	37	19	55107840	55107840	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:55107840T>G	uc002qgh.1	+	6	1327	c.1145T>G	c.(1144-1146)tTc>tGc	p.F382C	LILRA1_uc010yfg.1_Missense_Mutation_p.F380C|LILRA1_uc010yfh.2_Missense_Mutation_p.F382C	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	382	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.E381K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CAGGCTGAATTCCCTATGAGT	0.582000														79			28		0	0	0.001512	0	0
OR2B3	442184	broad.mit.edu	37	6	29054546	29054546	+	Silent	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:29054546A>T	uc003nlx.3	-	0	545	c.480T>A	c.(478-480)tcT>tcA	p.S160S		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GAGTCAAGGAAGACTGCAGCA	0.498000														30			14		0	0	0.000151284	0	0
WSCD1	23302	broad.mit.edu	37	17	5998538	5998538	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:5998538C>T	uc010cli.3	+	4	1223	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	WSCD1_uc002gcn.3_Nonsense_Mutation_p.Q282*|WSCD1_uc002gco.3_Nonsense_Mutation_p.Q282*|WSCD1_uc010clj.3_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	282	WSC 2.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CTTTTGTTCCCAGAAAGTAAG	0.562000														15			9		0	0	0.000274275	0	0
USH2A	7399	broad.mit.edu	37	1	216496976	216496976	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:216496976G>A	uc001hku.1	-	7	1777	c.1390C>T	c.(1390-1392)Cgt>Tgt	p.R464C	USH2A_uc001hkv.3_Missense_Mutation_p.R464C	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	464	Laminin N-terminal.		R -> C (in USH2A; uncertain pathogenicity).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATCCAGGACGATAATTTGGT	0.373000										HNSCC(13;0.011)				95			40		0	0	0.000509022	0	0
USP16	10600	broad.mit.edu	37	21	30419289	30419289	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:30419289C>T	uc002ymy.3	+	13	1860	c.1658C>T	c.(1657-1659)cCc>cTc	p.P553L	USP16_uc002ymx.3_Missense_Mutation_p.P552L|USP16_uc002ymw.3_Missense_Mutation_p.P553L|USP16_uc011acm.2_Missense_Mutation_p.P538L|USP16_uc011acn.2_Missense_Mutation_p.P219L|USP16_uc011aco.2_Missense_Mutation_p.P243L	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	553					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						ACATCTTCTCCCACTAGGAAT	0.363000														30			22		0	0	0.000229342	0	0
MCU	90550	broad.mit.edu	37	10	74619034	74619034	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr10:74619034C>T	uc001jtc.3	+	2	341	c.320C>T	c.(319-321)tCt>tTt	p.S107F	MCU_uc009xqp.1_Non-coding_Transcript|MCU_uc009xqq.1_Non-coding_Transcript|MCU_uc010qjy.1_Non-coding_Transcript|MCU_uc009xqr.3_Missense_Mutation_p.S107F|MCU_uc001jtd.3_Missense_Mutation_p.S58F	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	Homo sapiens mitochondrial calcium uniporter (MCU), nuclear gene encoding mitochondrial protein, mRNA.	107				S -> P (in Ref. 1; BAG37900).	elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						ATCTCTGACTCTGTTGGTGTA	0.428000														25			27		0	0	0.00127121	0	0
OGT	8473	broad.mit.edu	37	X	70779460	70779460	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:70779460C>T	uc004eaa.2	+	13	2022	c.1784C>T	c.(1783-1785)cCa>cTa	p.P595L	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.P585L|OGT_uc004eac.3_Missense_Mutation_p.P456L|OGT_uc004ead.3_Missense_Mutation_p.P214L	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	595					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCCCTGAGCCCAGACGATGGC	0.403000														28			9		0	0	0.000978159	0	0
RBM42	79171	broad.mit.edu	37	19	36123881	36123881	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:36123881C>T	uc002oan.3	+	4	562	c.486C>T	c.(484-486)gtC>gtT	p.V162V	RBM42_uc002oap.3_Intron|RBM42_uc002oaq.3_Intron	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	Homo sapiens RNA binding motif protein 42 (RBM42), mRNA.	162						cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAGCCTTCGTCCCCCACGTGC	0.632000														30			22		0	0	0.000586117	0	0
DNAH3	55567	broad.mit.edu	37	16	20952789	20952789	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:20952789A>T	uc010vbe.2	-	58	11588	c.11588T>A	c.(11587-11589)tTg>tAg	p.L3863*	DNAH3_uc010vbd.2_Nonsense_Mutation_p.L1298*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3863					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)		CACGGGGTACAACTTCATGAC	0.488000														95			71		0	0	0.000781405	0	0
KIF2B	84643	broad.mit.edu	37	17	51900733	51900733	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:51900733G>A	uc002iua.2	+	0	495	c.339G>A	c.(337-339)acG>acA	p.T113T	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	113					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.T113M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTACCGCCACGAAATGGGTTG	0.592000														54			30		0	0	0.00106085	0	0
TLR2	7097	broad.mit.edu	37	4	154626372	154626372	+	Silent	SNP	G	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:154626372G>C	uc003inq.3	+	2	2532	c.2313G>C	c.(2311-2313)cgG>cgC	p.R771R	TLR2_uc003inr.3_Silent_p.R771R|TLR2_uc003ins.3_Silent_p.R771R|TLR2_uc021xtl.1_Silent_p.R771R	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	771	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				AGGCTCAGCGGGAAGGATTTT	0.473000														16			27		0	0	0.00127121	0	0
PKP4	8502	broad.mit.edu	37	2	159522971	159522971	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:159522971C>T	uc002tzv.3	+	15	2884	c.2624C>T	c.(2623-2625)cCc>cTc	p.P875L	PKP4_uc002tzu.3_Missense_Mutation_p.P875L|PKP4_uc002tzw.3_Missense_Mutation_p.P875L|PKP4_uc002tzx.3_Missense_Mutation_p.P532L|PKP4_uc002uaa.3_Missense_Mutation_p.P727L|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_Missense_Mutation_p.P56L|PKP4_uc002uae.1_5'Flank	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	875					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AAGGGGCTCCCCATCCTTGTG	0.463000										HNSCC(62;0.18)				86			36		0	0	0.00111076	0	0
ZNF470	388566	broad.mit.edu	37	19	57085765	57085765	+	Silent	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:57085765T>C	uc002qnl.4	+	3	739	c.63T>C	c.(61-63)ggT>ggC	p.G21G	ZNF470_uc010etn.3_Non-coding_Transcript	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CATTTTAGGGTTCAGTGACTT	0.403000														42			15		0	0	0.00074312	0	0
VPS13C	54832	broad.mit.edu	37	15	62214859	62214859	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:62214859G>A	uc002agz.3	-	53	6803	c.6712C>T	c.(6712-6714)Ctt>Ttt	p.L2238F	VPS13C_uc002aha.3_Missense_Mutation_p.L2195F|VPS13C_uc002ahb.2_Missense_Mutation_p.L2238F|VPS13C_uc002ahc.2_Missense_Mutation_p.L2195F	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2238					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATACCCCAAAGATTTTCCATT	0.363000														78			36		0	0	0.00148497	0	0
AP5Z1	9907	broad.mit.edu	37	7	4830963	4830963	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:4830963C>T	uc003sne.3	+	16	2456	c.2371C>T	c.(2371-2373)Ctg>Ttg	p.L791L	AP5Z1_uc010ksp.3_Non-coding_Transcript|AP5Z1_uc003snf.3_Silent_p.L268L|MIR4656_uc021zzb.1_5'Flank	NM_014855	NP_055670	O43299	K0415_HUMAN	Homo sapiens KIAA0415 (KIAA0415), mRNA.	791					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										GCCCCTGGCCCTGCGCACGGT	0.672000														7			5		0	0	0.00116845	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48141519	48141519	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:48141519G>A	uc001rpz.4	-	13	1999	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D	RAPGEF3_uc001rpx.3_5'Flank|RAPGEF3_uc010sln.2_Silent_p.D5D|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Silent_p.D441D|RAPGEF3_uc009zkq.3_Silent_p.D441D|RAPGEF3_uc001rqa.3_Silent_p.D5D	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	441					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TGGCCACAGGGTCAGTGTGGA	0.637000														27			12		0	0	0.000219431	0	0
MAEL	84944	broad.mit.edu	37	1	166990344	166990344	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:166990344G>A	uc001gdy.1	+	10	1135	c.1064G>A	c.(1063-1065)gGa>gAa	p.G355E	MAEL_uc021peh.1_Missense_Mutation_p.G299E|MAEL_uc001gdz.1_Missense_Mutation_p.G324E|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	355					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GGGAGTTCAGGATTCTCTCAT	0.358000														34			27		0	0	0.00178596	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032408	10032408	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:10032408C>T	uc010uym.2	-	4	725	c.415_splice	c.e4-1	p.D139_splice	GRIN2A_uc002czo.4_Splice_Site_p.D139_splice|GRIN2A_uc010uyn.2_Splice_Site|GRIN2A_uc002czr.4_Splice_Site_p.D139_splice	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	139					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACGTCGGATCCTGCCAGTGA	0.468000														25			18		0	0	0.00074312	0	0
DSCAM	1826	broad.mit.edu	37	21	41719788	41719788	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:41719788G>A	uc002yyq.1	-	5	1471	c.1019C>T	c.(1018-1020)aCt>aTt	p.T340I	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	340	Ig-like C2-type 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)				CTGGTCCTCAGTTCCTGTCAC	0.488000														55			33		0	0	0.00178596	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515355	233515355	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:233515355C>T	uc001hvt.4	+	8	2864	c.2603C>T	c.(2602-2604)tCc>tTc	p.S868F	KIAA1804_uc001hvu.4_Missense_Mutation_p.S314F	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	868					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TTGCCGTCTTCCTTCCTACAG	0.498000														40			19		0	0	0.000958276	0	0
C7orf65	401335	broad.mit.edu	37	7	47694908	47694908	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:47694908G>A	uc010kyp.1	+	0	67	c.32G>A	c.(31-33)gGa>gAa	p.G11E		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	Homo sapiens chromosome 7 open reading frame 65 (C7orf65), mRNA.	11										endometrium(1)|lung(2)	3						TCAACAGAAGGAAGACGGCTC	0.627000														29			8		0	0	0.000442599	0	0
ZNF276	92822	broad.mit.edu	37	16	89789072	89789072	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:89789072C>T	uc002fos.4	+	1	436	c.339C>T	c.(337-339)ctC>ctT	p.L113L	C16orf7_uc002fol.1_5'Flank|C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.3_5'UTR|ZNF276_uc002foq.4_Silent_p.L38L|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_5'UTR|ZNF276_uc010cis.3_5'UTR|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_5'Flank|ZNF276_uc010cit.2_5'Flank	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	113	ZAD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AGCGCGTGCTCGTACGGGACT	0.647000														36			17		0	0	0.00121646	0	0
SDK1	221935	broad.mit.edu	37	7	4050701	4050701	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:4050701G>A	uc003smx.3	+	14	2374	c.2235G>A	c.(2233-2235)gcG>gcA	p.A745A	SDK1_uc010kso.3_Silent_p.A21A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	745	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGTGTGCGCGGTGAATGAAG	0.622000														24			9		0	0	0.000274275	0	0
RYK	6259	broad.mit.edu	37	3	133910819	133910819	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:133910819C>T	uc003eqc.1	-	8	984	c.886G>A	c.(886-888)Ggt>Agt	p.G296S	RYK_uc003eqd.1_Splice_Site_p.S293_splice	NM_001005861	NP_001005861	P34925	RYK_HUMAN	Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA.	294					Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						GTAGGATAACCTAAGGAGCCA	0.428000														35			21		0	0	0.000720815	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118379	118379	+	RNA	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrGL000205.1:118379C>T	uc002kgk.4	+	0		c.1757C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGAGACATCCCAGTGACTGAC	0.572000														47			7		0	0	8.12818e-05	0	0
FAM3B	54097	broad.mit.edu	37	21	42710382	42710382	+	Missense_Mutation	SNP	G	A	A	rs146229700		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr21:42710382G>A	uc002yzb.1	+	2	387	c.241G>A	c.(241-243)Gga>Aga	p.G81R	FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Missense_Mutation_p.G33R|FAM3B_uc011aeq.2_Missense_Mutation_p.G95R	NM_058186	NP_478066	P58499	FAM3B_HUMAN	Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA.	81					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GTTACTCAGCGGAGGTGGCAG	0.458000														49			19		0	0	0.000958276	0	0
ZNF750	79755	broad.mit.edu	37	17	80790255	80790255	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:80790255T>C	uc002kga.3	-	1	387	c.76A>G	c.(76-78)Aaa>Gaa	p.K26E	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	Homo sapiens zinc finger protein 750 (ZNF750), mRNA.	26						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGAAACATTTATACTTGAAG	0.408000														65			31		0	0	0.00058488	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739586	15739586	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:15739586C>T	uc002nbi.3	+	12	1391	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	CYP4F8_uc010xoj.2_Missense_Mutation_p.R256C	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	444					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGACCCCTTCCGCTTCGACCC	0.597000														27			11		0	0	0.000673444	0	0
RABEP1	9135	broad.mit.edu	37	17	5212019	5212019	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:5212019A>T	uc002gbm.4	+	1	289	c.65A>T	c.(64-66)gAa>gTa	p.E22V	RABEP1_uc010clc.1_Missense_Mutation_p.E22V|RABEP1_uc010cld.1_Intron|RABEP1_uc010vsw.1_Intron|RABEP1_uc002gbl.4_Missense_Mutation_p.E22V|RABEP1_uc002gbj.3_Missense_Mutation_p.E22V|RABEP1_uc002gbk.2_Missense_Mutation_p.E22V	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	22					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GCAGAATTGGAAAAAATTAAT	0.303000														22			15		0	0	0.000308642	0	0
HR	55806	broad.mit.edu	37	8	21986541	21986542	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:21986541_21986542GG>AA	uc003xas.3	-	1	807_808	c.142_143CC>TT	c.(142-144)ccc>TTc	p.P48F	HR_uc003xat.3_Missense_Mutation_p.P48F|HR_uc010lts.2_Missense_Mutation_p.P48F	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	48							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTCCAAAAGGGAGCAGGCTCT	0.688000														25			12		0	0	6.4e-05	0	0
FAM83B	222584	broad.mit.edu	37	6	54804969	54804969	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:54804969C>T	uc003pck.3	+	4	1316	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	400										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGCCATACCTCCTGCTTAATA	0.443000														51			35		0	0	0.00128727	0	0
TMEM104	54868	broad.mit.edu	37	17	72832536	72832537	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:72832536_72832537CC>TT	uc002jls.4	+	9	1363_1364	c.1201_1202CC>TT	c.(1201-1203)ccc>TTc	p.P401F	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Missense_Mutation_p.P401F	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	401						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CGTCGTGTTTCCCACCATCACC	0.658000														26			17		0	0	6.4e-05	0	0
OR2G2	81470	broad.mit.edu	37	1	247752385	247752385	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:247752385G>A	uc010pyy.2	+	0	724	c.724G>A	c.(724-726)Ggg>Agg	p.G242R		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G242W(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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;0.017)			GAAAGCATTCGGGACCTGCTT	0.502000														52			32		0	0	0.00178596	0	0
TBC1D17	79735	broad.mit.edu	37	19	50387567	50387568	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:50387567_50387568CG>AT	uc002pqo.3	+	10	1483_1484	c.1184_1185CG>AT	c.(1183-1185)ccg>cAT	p.P395H	TBC1D17_uc010ybg.2_Missense_Mutation_p.P362H|TBC1D17_uc002pqp.3_Missense_Mutation_p.P46H|TBC1D17_uc002pqr.3_Missense_Mutation_p.P46H	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	395	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCCGAGAACCCGGGGCTGGGCC	0.634000														150			6		0	0	6.4e-05	0	0
SCN9A	6335	broad.mit.edu	37	2	167129157	167129157	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:167129157C>T	uc010fpl.3	-	16	3411	c.3070G>A	c.(3070-3072)Gaa>Aaa	p.E1024K	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1035						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATATAGTTTTCCTTCTTAGTA	0.353000														34			18		0	0	0.00074312	0	0
FAM135B	51059	broad.mit.edu	37	8	139263157	139263157	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:139263157C>T	uc003yuy.3	-	5	640	c.469G>A	c.(469-471)Gac>Aac	p.D157N	FAM135B_uc003yux.3_Missense_Mutation_p.D58N|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	157										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGAAATAGTCGAACATGACC	0.592000										HNSCC(54;0.14)				58			53		0	0	0.000781405	0	0
KSR2	283455	broad.mit.edu	37	12	117968819	117968819	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:117968819C>T	uc001two.2	-	12	1698	c.1643_splice	c.e12-1	p.D548_splice		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	577	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCACCACATCTGAAAACCAG	0.547000														91			45		0	0	0.000781405	0	0
ZFP41	286128	broad.mit.edu	37	8	144332163	144332163	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:144332163C>T	uc003yxw.3	+	1	508	c.150C>T	c.(148-150)ccC>ccT	p.P50P	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Silent_p.P50P	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	50					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCACAGAGCCCTGCCTGAGTC	0.562000														11			10		0	0	0.000673444	0	0
CATSPER2	117155	broad.mit.edu	37	15	43940220	43940221	+	Silent	DNP	GG	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:43940220_43940221GG>TT	uc001zsh.3	-	1	254_255	c.39_40CC>AA	c.(37-42)ccccga>ccAAga	p.13_14PR>PR	CATSPER2_uc010bdm.3_Non-coding_Transcript|CATSPER2_uc001zsi.3_Silent_p.13_14PR>PR|CATSPER2_uc001zsj.3_Silent_p.13_14PR>PR|CATSPER2_uc001zsk.3_Silent_p.13_14PR>PR|CATSPER2_uc001zsl.1_Intron	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA.	13					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	p.R14R(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCATCAGCTCGGGGAAGCTGCA	0.485000														317			7		0	0	6.4e-05	0	0
NAA11	84779	broad.mit.edu	37	4	80246535	80246535	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:80246535T>C	uc003hlt.4	-	0	637	c.497A>G	c.(496-498)aAg>aGg	p.K166R	NAA11_uc021xpl.1_Missense_Mutation_p.K166R	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	166						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						ATACCCGCCCTTCTTCAGGTC	0.537000														5			10		0	0	0.000442599	0	0
CCR3	1232	broad.mit.edu	37	3	46307148	46307149	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:46307148_46307149CC>TT	uc003cpl.2	+	2	1629_1630	c.598_599CC>TT	c.(598-600)cct>TTt	p.P200F	CCR3_uc003cpg.2_Missense_Mutation_p.P167F|CCR3_uc003cpk.2_Missense_Mutation_p.P188F|CCR3_uc003cpi.2_Missense_Mutation_p.P167F|CCR3_uc010hjb.2_Missense_Mutation_p.P185F|CCR3_uc003cpj.2_Missense_Mutation_p.P167F|CCR3_uc021wwz.1_Missense_Mutation_p.P167F	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	167					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AGCAGCTCTTCCTGAATTTATC	0.495000														45			29		0	0	6.4e-05	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647371	121647371	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:121647371C>T	uc003eep.2	+	14	1463	c.1310C>T	c.(1309-1311)tCt>tTt	p.S437F	SLC15A2_uc011bjn.1_Missense_Mutation_p.S406F	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	437					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GAAAACAATTCTCTGTTGATA	0.428000														77			44		0	0	0.000680045	0	0
PUM2	23369	broad.mit.edu	37	2	20455081	20455081	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:20455081G>A	uc002rds.1	-	16	2662	c.2644C>T	c.(2644-2646)Cct>Tct	p.P882S	PUM2_uc002rdq.1_Missense_Mutation_p.P261S|PUM2_uc002rdt.1_Missense_Mutation_p.P882S|PUM2_uc002rdr.2_Missense_Mutation_p.P742S|PUM2_uc010yjy.1_Missense_Mutation_p.P803S|PUM2_uc002rdu.1_Missense_Mutation_p.P882S|PUM2_uc010yjz.1_Missense_Mutation_p.P821S	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	884	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein 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)					CAGCCATAAGGATGAGTTGAA	0.388000														28			23		0	0	0.000586117	0	0
C8B	732	broad.mit.edu	37	1	57399055	57399055	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:57399055G>A	uc001cyp.3	-	9	1572	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	C8B_uc010oon.2_Missense_Mutation_p.S440F|C8B_uc010ooo.2_Missense_Mutation_p.S450F	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	502	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.S502F(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACAGTGGCAGGAACTAACTTC	0.522000														39			29		0	0	0.00106085	0	0
XIRP2	129446	broad.mit.edu	37	2	167760381	167760381	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:167760381C>T	uc002udx.3	+	1	478	c.389C>T	c.(388-390)cCa>cTa	p.P130L	XIRP2_uc010fpn.3_Missense_Mutation_p.P130L|XIRP2_uc010fpo.3_Missense_Mutation_p.P130L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	0					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						GGAAACAAACCAGCTGAGTAC	0.458000														58			22		0	0	0.00047179	0	0
SATL1	340562	broad.mit.edu	37	X	84349220	84349220	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:84349220C>T	uc004een.3	-	3	1790	c.1790G>A	c.(1789-1791)gGa>gAa	p.G597E		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	410							N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CATGGCAAATCCAACAGTCAG	0.403000														60			30		0	0	0.000491102	0	0
CYP4A22	284541	broad.mit.edu	37	1	47611774	47611775	+	Missense_Mutation	DNP	CG	AT	AT	rs148627284	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:47611774_47611775CG>AT	uc001cqv.1	+	10	1364_1365	c.1313_1314CG>AT	c.(1312-1314)ccg>cAT	p.P438H	CYP4A22_uc009vyo.3_Missense_Mutation_p.P438H|CYP4A22_uc009vyp.3_Missense_Mutation_p.P340H	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	438						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	p.P438P(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGTTTTGCACCGGGTTCTGCTC	0.530000														226			8		0	0	6.4e-05	0	0
C5AR1	728	broad.mit.edu	37	19	47823574	47823574	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:47823574G>C	uc002pgj.1	+	1	589	c.540G>C	c.(538-540)gaG>gaC	p.E180D		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	180					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TCCGGGAGGAGTACTTTCCAC	0.647000														79			46		0	0	0.000781405	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44016840	44016840	+	Silent	SNP	C	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:44016840C>A	uc002rtl.3	+	4	400	c.300C>A	c.(298-300)ccC>ccA	p.P100P	DYNC2LI1_uc002rth.3_Silent_p.P100P|DYNC2LI1_uc002rti.3_Silent_p.P100P|DYNC2LI1_uc002rtk.3_Silent_p.P100P|DYNC2LI1_uc010ynz.2_5'UTR|DYNC2LI1_uc021vgq.1_5'UTR	NM_001193464	NP_001180393	Q8TCX1	DC2L1_HUMAN	Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA.	100						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCAGCATACCCATCACAGGTG	0.423000														354			9		0.000978159	0.00542844	0.000978159	1	0
LPCAT2	54947	broad.mit.edu	37	16	55584910	55584910	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:55584910G>T	uc002eie.4	+	10	1292	c.1111G>T	c.(1111-1113)Gcg>Tcg	p.A371S	LPCAT2_uc002eic.3_Missense_Mutation_p.A101S	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 2 (LPCAT2), mRNA.	371					cellular membrane organization|platelet activating factor biosynthetic process	Golgi membrane|Golgi stack|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TGCATCTATTGCGAGTTCCTC	0.348000														60			37		6.53348e-20	3.68543e-19	0.000692331	1	0
TAS2R8	50836	broad.mit.edu	37	12	10959048	10959048	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:10959048G>A	uc010shh.2	-	0	532	c.532C>T	c.(532-534)Cca>Tca	p.P178S		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	Homo sapiens taste receptor, type 2, member 8 (TAS2R8), mRNA.	178					sensory perception of taste	integral to membrane	taste receptor activity	p.I177M(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCAAAGTATGGTATTTTACTC	0.338000														32			20		0	0	0.00152264	0	0
FAM65A	79567	broad.mit.edu	37	16	67576106	67576106	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:67576106C>T	uc010vjp.2	+	12	1663	c.1477C>T	c.(1477-1479)Cta>Tta	p.L493L	FAM65A_uc010cei.2_Silent_p.L315L|FAM65A_uc002eth.3_Silent_p.L473L|FAM65A_uc010cej.3_Silent_p.L477L|FAM65A_uc002eti.2_Silent_p.L436L|FAM65A_uc010vjq.2_Silent_p.L487L|FAM65A_uc002etj.1_Silent_p.L472L|FAM65A_uc002etk.3_Silent_p.L472L	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	477	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCAGAAAGCCTAGCCTGGGG	0.622000														37			20		0	0	0.000958276	0	0
SELP	6403	broad.mit.edu	37	1	169580879	169580879	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:169580879C>T	uc001ggi.4	-	6	1063	c.998G>A	c.(997-999)gGa>gAa	p.G333E	SELP_uc001ggh.3_Missense_Mutation_p.G168E|SELP_uc009wvr.3_Missense_Mutation_p.G333E	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	333	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.G333G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTCCATGGTTCCTTCACTGGG	0.517000														64			25		0	0	0.00127121	0	0
TINF2	26277	broad.mit.edu	37	14	24710294	24710294	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr14:24710294G>A	uc001woa.4	-	4	878	c.536C>T	c.(535-537)cCt>cTt	p.P179L	TINF2_uc010alm.3_Missense_Mutation_p.P3L|TINF2_uc001wob.4_Missense_Mutation_p.P179L|TINF2_uc010tof.2_Missense_Mutation_p.P144L|TINF2_uc001woc.4_Intron	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.	179					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		AGAGACTCCAGGCTGCATCCA	0.517000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome					90			51		0	0	0.000781405	0	0
IPO5	3843	broad.mit.edu	37	13	98664589	98664589	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:98664589C>T	uc001vne.3	+	20	2379	c.2199C>T	c.(2197-2199)ttC>ttT	p.F733F	IPO5_uc001vnf.1_Silent_p.F715F|IPO5_uc010tik.1_Silent_p.F590F|IPO5_uc010til.1_Silent_p.F655F|IPO5_uc001vng.1_Silent_p.F336F	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	715					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						AATTTTATTTCCACGATGATA	0.368000														51			21		0	0	0.00121646	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80963044	80963044	+	Missense_Mutation	SNP	C	T	T	rs151094014	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:80963044C>T	uc002kgg.1	-	5	465	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	B3GNTL1_uc002kgf.1_Missense_Mutation_p.E40K|B3GNTL1_uc002kge.1_Non-coding_Transcript	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.	151							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GTGTATCGTTCGGTGGAGTTA	0.562000														74			33		0	0	0.00170553	0	0
PHACTR2	9749	broad.mit.edu	37	6	144070141	144070141	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:144070141C>T	uc010khi.3	+	2	433	c.234C>T	c.(232-234)tcC>tcT	p.S78S	PHACTR2_uc003qjq.4_Silent_p.S67S|PHACTR2_uc010khh.3_Silent_p.S67S|PHACTR2_uc003qjr.4_Silent_p.S78S	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	67							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GGAAGATATCCACACGACAAA	0.333000														20			10		0	0	0.000673444	0	0
DRP2	1821	broad.mit.edu	37	X	100490968	100490968	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:100490968G>A	uc004egz.2	+	3	606	c.237G>A	c.(235-237)atG>atA	p.M79I	DRP2_uc011mrh.1_Missense_Mutation_p.M1I	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	79					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CACCAGCCATGAATCTGTGTT	0.517000														117			47		0	0	0.000781405	0	0
BRAP	8315	broad.mit.edu	37	12	112121036	112121037	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:112121036_112121037GG>AA	uc001tsn.4	-	1	351_352	c.157_158CC>TT	c.(157-159)cca>TTa	p.P53L	BRAP_uc010syh.2_5'Flank|BRAP_uc009zvv.3_Missense_Mutation_p.P23L|ACAD10_uc009zvw.2_5'Flank|ACAD10_uc001tso.4_5'Flank|ACAD10_uc001tsp.3_5'Flank|ACAD10_uc001tsq.3_5'Flank|ACAD10_uc009zvx.3_5'Flank	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	Homo sapiens BRCA1 associated protein (BRAP), mRNA.	53					MAPKKK cascade|Ras protein signal transduction|negative regulation of signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TTTCTCTCCTGGTGACTTGCCT	0.441000														98			56		0	0	6.4e-05	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204197962	204197962	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:204197962G>A	uc001hau.3	-	19	3096	c.2779C>T	c.(2779-2781)Cct>Tct	p.P927S		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	927										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TACCGTTCAGGGATGAGGACT	0.567000														43			13		0	0	0.000151284	0	0
KPNB1	3837	broad.mit.edu	37	17	45750523	45750523	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:45750523C>T	uc002ilt.1	+	12	2023	c.1687C>T	c.(1687-1689)Cag>Tag	p.Q563*	KPNB1_uc010wkw.1_Nonsense_Mutation_p.Q418*|KPNB1_uc010wkx.1_Nonsense_Mutation_p.Q347*	NM_002265	NP_002256	Q14974	IMB1_HUMAN	Homo sapiens karyopherin (importin) beta 1 (KPNB1), mRNA.	563					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						ACAGGTTCTTCAGATGGAGGT	0.443000														55			38		0	0	0.00148497	0	0
USP9X	8239	broad.mit.edu	37	X	41088904	41088904	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:41088904C>T	uc004dfb.3	+	42	7936	c.7303C>T	c.(7303-7305)Cct>Tct	p.P2435S	USP9X_uc004dfc.3_Missense_Mutation_p.P2435S	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	2435					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TACTGGCAATCCTCAGTACAC	0.428000														42			25		0	0	0.000586117	0	0
C19orf33	64073	broad.mit.edu	37	19	38795267	38795267	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:38795267G>A	uc002ohu.1	+	2	240	c.142G>A	c.(142-144)Gga>Aga	p.G48R	YIF1B_uc002ohw.2_3'UTR|YIF1B_uc002ohx.2_3'UTR|YIF1B_uc010xtx.1_3'UTR|YIF1B_uc010xty.1_3'UTR|YIF1B_uc002oia.2_3'UTR|YIF1B_uc002ohy.2_3'UTR|YIF1B_uc002ohz.2_3'UTR|C19orf33_uc002ohv.1_Silent_p.K67K	NM_033520	NP_277055	Q9GZP8	IMUP_HUMAN	Homo sapiens chromosome 19 open reading frame 33 (C19orf33), mRNA.	48						nucleus						all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CATCCAGCAAGGACACCACAG	0.657000														19			16		0	0	0.00074312	0	0
C6	729	broad.mit.edu	37	5	41150037	41150037	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:41150037C>T	uc003jmk.2	-	16	2591	c.2381_splice	c.e16+1	p.S794_splice	C6_uc003jml.1_Splice_Site_p.S794_splice	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	794	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TATCTCTTACCTACAGTCTTC	0.393000														30			17		0	0	0.000958276	0	0
DNAH17	8632	broad.mit.edu	37	17	76482527	76482527	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:76482527G>A	uc010dhp.2	-	44	7005	c.6880C>T	c.(6880-6882)Ctc>Ttc	p.L2294F		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGTCAAAGAGGATCATCAGG	0.582000														19			19		0	0	0.00074312	0	0
TMEM37	140738	broad.mit.edu	37	2	120194596	120194596	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:120194596C>T	uc002tly.3	+	1	187	c.153C>T	c.(151-153)ctC>ctT	p.L51L		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	Homo sapiens transmembrane protein 37 (TMEM37), mRNA.	51						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GGCACTGGCTCCTGGCTGAGG	0.622000														64			40		0	0	0.00170553	0	0
RANBP17	64901	broad.mit.edu	37	5	170667979	170667979	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:170667979C>T	uc003mba.3	+	22	2612	c.2470C>T	c.(2470-2472)Cca>Tca	p.P824S	RANBP17_uc003mbb.3_Missense_Mutation_p.P149S|RANBP17_uc003mbd.3_Missense_Mutation_p.P187S|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	824					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCAGATTTATCCAATGAAACT	0.418000			T	TRD@	ALL									93			59		0	0	0.000781405	0	0
USP29	57663	broad.mit.edu	37	19	57640096	57640096	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:57640096G>A	uc002qny.3	+	3	409	c.53G>A	c.(52-54)gGg>gAg	p.G18E	USP29_uc021vci.1_Missense_Mutation_p.G18E	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	18					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)		CAGAAGACTGGGATGACTAAG	0.343000														31			22		0	0	0.000375601	0	0
LARP1	23367	broad.mit.edu	37	5	154190829	154190829	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:154190829C>T	uc003lvo.3	+	16	2659	c.2635C>T	c.(2635-2637)Cga>Tga	p.R879*	LARP1_uc021ygh.1_Nonsense_Mutation_p.R751*	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	956							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGCCTTTTTCGATACTACAG	0.443000														34			19		0	0	0.00121646	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350308	51350308	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:51350308A>T	uc001zyy.3	-	2	749	c.649T>A	c.(649-651)Ttc>Atc	p.F217I		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	217										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TTCCTATCGAAGGTGTATTCC	0.547000														40			18		0	0	0.000566183	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802724	185802724	+	Silent	SNP	G	A	A	rs112021606	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:185802724G>A	uc002uph.3	+	3	3195	c.2601G>A	c.(2599-2601)agG>agA	p.R867R		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	867						intracellular	zinc ion binding	p.E866*(1)		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						AAATCGAAAGGAACTCAGAAC	0.358000														48			28		0	0	0.000878237	0	0
PID1	55022	broad.mit.edu	37	2	229890376	229890376	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:229890376G>A	uc002vpr.4	-	2	763	c.725C>T	c.(724-726)tCc>tTc	p.S242F	PID1_uc002vps.4_Missense_Mutation_p.S240F|PID1_uc002vpt.4_Missense_Mutation_p.S209F|PID1_uc002vpu.4_Missense_Mutation_p.S160F	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	242	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CAATTCCTGGGAAACCTCTTC	0.512000														57			22		0	0	0.000375601	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113517931	113517931	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:113517931G>A	uc010ljy.1	-	3	3247	c.3216C>T	c.(3214-3216)acC>acT	p.T1072T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	1072					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTTAGAGTTGGTATATTTTG	0.348000														64			78		0	0	0.000781405	0	0
ERN1	2081	broad.mit.edu	37	17	62137861	62137861	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:62137861G>A	uc002jdz.2	-	10	1287	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	392					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GAATCAGCAGGAATCACATTT	0.483000														59			31		0	0	0.000814825	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920998	155920998	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:155920998C>T	uc001fmu.2	-	23	2712	c.2457G>A	c.(2455-2457)gaG>gaA	p.E819E	ARHGEF2_uc001fmq.2_Silent_p.E13E|ARHGEF2_uc001fmr.2_Silent_p.E747E|ARHGEF2_uc001fms.2_Silent_p.E774E|ARHGEF2_uc001fmt.2_Silent_p.E775E	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	775					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCACAGCTTCTCCCGCCGCT	0.642000														17			7		0	0	8.12818e-05	0	0
TEC	7006	broad.mit.edu	37	4	48147256	48147256	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:48147256G>A	uc003gxz.3	-	13	1401	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	437	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						AATGTATATTGGTTTCTGCTG	0.433000														45			28		0	0	0.000339439	0	0
C12orf42	374470	broad.mit.edu	37	12	103700002	103700002	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:103700002G>A	uc001tjt.2	-	4	469	c.381C>T	c.(379-381)ttC>ttT	p.F127F	C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Silent_p.F127F|C12orf42_uc001tju.2_Silent_p.F32F	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	127										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GAGAGGAACGGAATTCTTCAT	0.463000														25			15		0	0	0.00074312	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114369	117114369	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:117114369G>A	uc003pxj.1	-	5	1739	c.1717C>T	c.(1717-1719)Cct>Tct	p.P573S	GPRC6A_uc003pxk.1_Missense_Mutation_p.P398S|GPRC6A_uc003pxl.1_Missense_Mutation_p.P502S	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	573					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTCCTAACAGGGGCCCAGTGA	0.438000														12			9		0	0	0.000442599	0	0
TAOK3	51347	broad.mit.edu	37	12	118693341	118693341	+	Missense_Mutation	SNP	A	G	G	rs61945215		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:118693341A>G	uc001twx.3	-	2	327	c.32T>C	c.(31-33)aTt>aCt	p.I11T	TAOK3_uc001twy.4_Missense_Mutation_p.I11T	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	11					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGATCGGCAATCTCTGGGTC	0.378000														103			51		0	0	0.000781405	0	0
ZNF610	162963	broad.mit.edu	37	19	52869701	52869701	+	Missense_Mutation	SNP	C	T	T	rs148016576	byFrequency	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:52869701C>T	uc002pyx.4	+	5	1476	c.1070C>T	c.(1069-1071)tCa>tTa	p.S357L	ZNF610_uc002pyy.4_Missense_Mutation_p.S357L|ZNF610_uc002pyz.4_Missense_Mutation_p.S314L|ZNF610_uc002pza.3_Missense_Mutation_p.S357L	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGTCTGCTTTCATACCTTGCA	0.423000														49			21		0	0	0.00047179	0	0
MUC16	94025	broad.mit.edu	37	19	9077469	9077469	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:9077469C>T	uc002mkp.3	-	2	10181	c.9977G>A	c.(9976-9978)gGg>gAg	p.G3326E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3327	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						CTGACCAGTCCCTGTGATGCT	0.517000														56			35		0	0	0.00058488	0	0
DNAH9	1770	broad.mit.edu	37	17	11666769	11666769	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:11666769C>T	uc002gne.3	+	35	7076	c.7008C>T	c.(7006-7008)atC>atT	p.I2336I	DNAH9_uc010coo.3_Silent_p.I1630I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2336					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2336I(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTAAGAAGATCATTCCCATCC	0.498000														81			45		0	0	0.000781405	0	0
DISP1	84976	broad.mit.edu	37	1	223176933	223176934	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:223176933_223176934GG>TT	uc001hnu.2	+	9	2520_2521	c.2194_2195GG>TT	c.(2194-2196)ggg>TTg	p.G732L		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	732					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AACTGTAGGTGGGGCCTACATT	0.426000														673			12		0	0	6.4e-05	0	0
KIF17	57576	broad.mit.edu	37	1	20996944	20996944	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:20996944G>A	uc001bdr.4	-	12	2881	c.2763C>T	c.(2761-2763)acC>acT	p.T921T	KIF17_uc001bdp.4_Silent_p.T198T|KIF17_uc009vpx.3_Silent_p.T291T|KIF17_uc001bds.4_Silent_p.T920T	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	921					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTGCTGCAGAGGTTTTGCGGG	0.597000														55			23		0	0	0.00106085	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679361	37679361	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr13:37679361G>A	uc001uwm.1	-	0	441	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	11					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.E10K(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CTCCCACAACGAGTTCGGCTT	0.592000														46			38		0	0	0.000781405	0	0
LILRB3	11025	broad.mit.edu	37	19	54802162	54802162	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:54802162C>T	uc002qfd.3	-	5	1118	c.1026G>A	c.(1024-1026)gtG>gtA	p.V342V	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Silent_p.V278V	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	341	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGCAGGGTCACGTTCTCTC	0.607000														31			10		0	0	0.000673444	0	0
TRPS1	7227	broad.mit.edu	37	8	116616459	116616459	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:116616459G>A	uc003yny.3	-	3	2315	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	TRPS1_uc011lhy.2_Silent_p.F570F|TRPS1_uc003ynz.3_Silent_p.F566F|TRPS1_uc010mcy.3_Silent_p.F566F	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	566					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTCTGGGACAGAATGGACAGT	0.443000									Langer-Giedion syndrome					25			19		0	0	0.000958276	0	0
THADA	63892	broad.mit.edu	37	2	43625165	43625166	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:43625165_43625166GG>TT	uc002rsw.4	-	28	4523_4524	c.4171_4172CC>AA	c.(4171-4173)ccc>AAc	p.P1391N	THADA_uc010far.3_Missense_Mutation_p.P586N|THADA_uc002rsx.4_Missense_Mutation_p.P1391N|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.P1100N|THADA_uc010fat.1_Missense_Mutation_p.P538N	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1391							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGTGCAGCTGGGGAGTGTGGAC	0.465000														459			11		0	0	6.4e-05	0	0
MYO7B	4648	broad.mit.edu	37	2	128390866	128390866	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:128390866G>A	uc002top.3	+	38	5414	c.5361G>A	c.(5359-5361)gtG>gtA	p.V1787V	MYO7B_uc002tos.2_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1787	MyTH4 2.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGCACCAGGTGGAGGTGGAGG	0.672000														18			7		0	0	0.000274275	0	0
C19orf57	79173	broad.mit.edu	37	19	14006280	14006280	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:14006280C>T	uc002mxl.1	-	2	170	c.111G>A	c.(109-111)ttG>ttA	p.L37L	C19orf57_uc002mxk.1_5'Flank	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	37					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GTAAACAGCCCAACATGGAAC	0.552000														93			53		0	0	0.000781405	0	0
ZNF679	168417	broad.mit.edu	37	7	63726795	63726795	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:63726795C>T	uc003tsx.3	+	4	1053	c.784C>T	c.(784-786)Cat>Tat	p.H262Y		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TAGGAGAATTCATACTGGAGA	0.418000														14			8		0	0	0.000157383	0	0
MDN1	23195	broad.mit.edu	37	6	90380733	90380733	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:90380733C>T	uc003pnn.1	-	82	13977	c.13861G>A	c.(13861-13863)Gtc>Atc	p.V4621I		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4621					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGAAGAGGACGAGGTCTGAG	0.522000														52			21		0	0	0.00121646	0	0
SHD	56961	broad.mit.edu	37	19	4288268	4288268	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:4288268G>A	uc002lzw.2	+	4	2208	c.745G>A	c.(745-747)Gat>Aat	p.D249N		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	249	SH2.							p.A248V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACAGGGCGGATGCAGAGAG	0.572000														23			12		0	0	0.000219431	0	0
ITPR2	3709	broad.mit.edu	37	12	26714877	26714877	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr12:26714877G>A	uc001rhg.3	-	34	5056	c.4639C>T	c.(4639-4641)Cgt>Tgt	p.R1547C		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1547					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)					GCAATTCCACGATTTTTTGCT	0.323000														26			13		0	0	0.000308642	0	0
EIF5B	9669	broad.mit.edu	37	2	99977974	99977974	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:99977974C>T	uc002tab.3	+	3	794	c.610C>T	c.(610-612)Cag>Tag	p.Q204*		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	204					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAAAAAAATCAGAAAAACAA	0.358000														26			10		0	0	0.000978159	0	0
BRWD3	254065	broad.mit.edu	37	X	79937548	79937548	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:79937548G>A	uc004edt.3	-	38	4706	c.4443C>T	c.(4441-4443)gaC>gaT	p.D1481D	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Silent_p.D1310D|BRWD3_uc004edq.3_Silent_p.D1077D|BRWD3_uc010nmj.2_Silent_p.D1077D|BRWD3_uc004edr.3_Silent_p.D1151D|BRWD3_uc004eds.3_Silent_p.D1077D|BRWD3_uc004edo.3_Silent_p.D1077D|BRWD3_uc004edu.3_Silent_p.D1151D|BRWD3_uc004edv.3_Silent_p.D1077D|BRWD3_uc004edw.3_Silent_p.D1077D|BRWD3_uc004edx.3_Silent_p.D1077D|BRWD3_uc004edy.3_Silent_p.D1077D|BRWD3_uc004edz.3_Silent_p.D1151D|BRWD3_uc004eea.3_Silent_p.D1151D|BRWD3_uc004eeb.3_Silent_p.D1077D	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1481										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGGTATTCTGGTCATTTTTAG	0.363000														60			30		0	0	0.00111076	0	0
HEATR5B	54497	broad.mit.edu	37	2	37234374	37234374	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:37234374G>A	uc002rpp.1	-	28	4692	c.4596C>T	c.(4594-4596)ctC>ctT	p.L1532L	HEATR5B_uc010ezy.1_Silent_p.L116L	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1532							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCACCGCATGGAGAATTGGGG	0.408000														63			31		0	0	0.000692331	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363686	42363686	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:42363686C>T	uc001zox.3	-	15	1732	c.1637G>A	c.(1636-1638)gGg>gAg	p.G546E		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	546	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCAGGACTCCCCAGAACTGGT	0.557000														21			13		0	0	0.000308642	0	0
ZNF90	7643	broad.mit.edu	37	19	20229372	20229372	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:20229372G>A	uc002nor.2	+	3	1148	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	ZNF90_uc021url.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	337						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						AATCCATACTGGAGAGAAACC	0.413000														10			4		0	0	0.00024832	0	0
EPHA3	2042	broad.mit.edu	37	3	89521711	89521711	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:89521711G>A	uc003dqy.3	+	15	3013	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	EPHA3_uc021xbf.1_Intron	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	930	SAM.					extracellular region|integral to plasma membrane	ATP binding	p.E930K(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACACTGCAAGGAAATCTTCAC	0.423000										TSP Lung(6;0.00050)				48			27		0	0	0.000878237	0	0
POTEF	728378	broad.mit.edu	37	2	130878044	130878044	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:130878044C>T	uc010fmh.2	-	2	445	c.45G>A	c.(43-45)aaG>aaA	p.K15K		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	15						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CAAATGGCTTCTTCACAGAAG	0.562000														50			32		0	0	0.000781405	0	0
MUTYH	4595	broad.mit.edu	37	1	45797397	45797397	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:45797397G>A	uc001cnm.3	-	11	1329	c.1113C>T	c.(1111-1113)acC>acT	p.T371T	MUTYH_uc001cnf.3_Silent_p.T346T|MUTYH_uc009vxo.3_Silent_p.T346T|MUTYH_uc001cng.3_Silent_p.T357T|MUTYH_uc001cnj.3_Silent_p.T254T|MUTYH_uc001cni.3_Silent_p.T346T|MUTYH_uc001cnh.3_Silent_p.T347T|MUTYH_uc001cnl.3_Silent_p.T360T|MUTYH_uc009vxp.3_Silent_p.T374T|MUTYH_uc001cnn.3_Silent_p.T361T|MUTYH_uc001cno.3_Silent_p.T254T|MUTYH_uc010oll.2_Intron	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA.	371	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|MutSalpha complex binding|endonuclease activity|metal ion binding	p.A370S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCAGAACACAGGTGGCAGAGC	0.647000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis					20			11		0	0	0.000978159	0	0
SSPO	23145	broad.mit.edu	37	7	149486750	149486750	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:149486750C>T	uc010lpk.3	+	30	4524	c.4524C>T	c.(4522-4524)atC>atT	p.I1508I		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1508	LDL-receptor class A 4.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGGGGCCATCCAGCTGTGTG	0.652000														5			6		0	0	0.00116845	0	0
LRRC28	123355	broad.mit.edu	37	15	99892588	99892588	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:99892588C>T	uc002bva.1	+	6	762	c.607C>T	c.(607-609)Cga>Tga	p.R203*	LRRC28_uc010urs.1_Non-coding_Transcript|LRRC28_uc002bvb.1_Nonsense_Mutation_p.R49*|LRRC28_uc010urt.1_Nonsense_Mutation_p.R17*|LRRC28_uc002bvc.1_Nonsense_Mutation_p.R203*|LRRC28_uc010uru.1_Nonsense_Mutation_p.R134*|LRRC28_uc002bvd.1_Intron	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	Homo sapiens leucine rich repeat containing 28 (LRRC28), mRNA.	203										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			AGGTCGATCTCGAGAACTACA	0.353000														78			62		0	0	0.000781405	0	0
KIAA1468	57614	broad.mit.edu	37	18	59895551	59895551	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:59895551C>T	uc002lil.3	+	7	1383	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F	KIAA1468_uc002lik.1_Missense_Mutation_p.L390F|KIAA1468_uc010xel.2_Missense_Mutation_p.L390F|KIAA1468_uc002lim.3_Missense_Mutation_p.L34F	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	390							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AATGGACTTCCTCAAAAATGA	0.403000														67			32		0	0	0.00058488	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64607732	64607732	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:64607732C>T	uc001obs.4	-	4	441	c.441G>A	c.(439-441)gtG>gtA	p.V147V		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	147	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AGTAGTCCATCACAAGGTACT	0.652000														7			8		0	0	0.000157383	0	0
PKD1L1	168507	broad.mit.edu	37	7	47882569	47882569	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr7:47882569C>T	uc003tny.2	-	33	5470	c.5436G>A	c.(5434-5436)ttG>ttA	p.L1812L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1812	PLAT.				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						CCTTTGAGGTCAACCTGGCCG	0.517000														59			20		0	0	0.000229342	0	0
DNAH5	1767	broad.mit.edu	37	5	13841889	13841889	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:13841889G>A	uc003jfd.2	-	32	5438	c.5396C>T	c.(5395-5397)tCa>tTa	p.S1799L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1799	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1798S(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGATGCAATGAGGACTGAGA	0.438000									Kartagener syndrome					39			27		0	0	0.001512	0	0
IQGAP2	10788	broad.mit.edu	37	5	75997022	75997022	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:75997022G>A	uc003kek.3	+	33	4711	c.4489G>A	c.(4489-4491)Gat>Aat	p.D1497N	IQGAP2_uc011csv.2_Missense_Mutation_p.D993N|IQGAP2_uc003kel.3_Missense_Mutation_p.D993N	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1497					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGATATAGATGATCTTCAAAC	0.463000														38			29		0	0	0.000692331	0	0
F5	2153	broad.mit.edu	37	1	169511239	169511239	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:169511239C>T	uc001ggg.1	-	12	3234	c.3089G>A	c.(3088-3090)cGa>cAa	p.R1030Q		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1030	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTCTTTTTTCGTGTCTTAAT	0.408000														116			57		0	0	0.000781405	0	0
SCN10A	6336	broad.mit.edu	37	3	38793755	38793755	+	Silent	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:38793755T>C	uc003ciq.3	-	10	1710	c.1710A>G	c.(1708-1710)caA>caG	p.Q570Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	570					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)	TGGGCGGCGGTTGGTGTTCAT	0.597000														70			36		0	0	0.00148497	0	0
GSPT2	23708	broad.mit.edu	37	X	51487254	51487254	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:51487254G>A	uc004dpl.3	+	0	774	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	178					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AAGTGGCCAGGAAATGATGGA	0.478000														19			4		0	0	0.000602214	0	0
PFAS	5198	broad.mit.edu	37	17	8159960	8159960	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:8159960C>T	uc002gkr.3	+	7	1081	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	PFAS_uc010vuv.2_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	314					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCACAACTTTCCCACAGGTGA	0.562000														23			22		0	0	0.000586117	0	0
RETNLB	84666	broad.mit.edu	37	3	108476003	108476003	+	Silent	SNP	G	A	A	rs79104027		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:108476003G>A	uc003dxh.2	-	0	128	c.30C>T	c.(28-30)atC>atT	p.I10I		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	10					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GGGGGATTAGGATGAGAAGGA	0.512000														19			7		0	0	0.000157383	0	0
FAM91A1	157769	broad.mit.edu	37	8	124790922	124790922	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr8:124790922C>T	uc003yqv.3	+	5	520	c.459C>T	c.(457-459)gcC>gcT	p.A153A	FAM91A1_uc011lik.1_Silent_p.A153A|FAM91A1_uc011lil.2_5'UTR	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	153										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GGAAAACAGCCCGTGATCTTC	0.393000														34			24		0	0	0.000878237	0	0
TSC22D3	1831	broad.mit.edu	37	X	106957890	106957890	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:106957890G>A	uc004enh.3	-	2	830	c.462C>T	c.(460-462)tcC>tcT	p.S154S	TSC22D3_uc004enf.3_Silent_p.S31S|TSC22D3_uc004eng.3_Silent_p.S88S|TSC22D3_uc004eni.3_Silent_p.S154S|TSC22D3_uc004enj.3_Silent_p.S154S	NM_198057	NP_932174	Q99576	T22D3_HUMAN	Homo sapiens TSC22 domain family, member 3 (TSC22D3), transcript variant 1, mRNA.	88							sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						GCTCTAGCTGGGAGTTCTTCT	0.547000														113			58		0	0	0.000781405	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560836	44560836	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr18:44560836G>A	uc002lcr.1	-	0	1153	c.800C>T	c.(799-801)tCc>tTc	p.S267F	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	267					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACTTGCCCAGGAGGGCATCCT	0.607000														59			32		0	0	0.00058488	0	0
GRSF1	2926	broad.mit.edu	37	4	71691860	71691860	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr4:71691860T>C	uc010iia.1	-	6	1321	c.1238A>G	c.(1237-1239)aAt>aGt	p.N413S	GRSF1_uc011caz.1_Missense_Mutation_p.N295S|GRSF1_uc003hfs.2_Missense_Mutation_p.N251S	NM_002092	NP_001091947	Q12849	GRSF1_HUMAN	Homo sapiens G-rich RNA sequence binding factor 1 (GRSF1), transcript variant 1, mRNA.	413	RRM 3.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GTCTTGGGCATTGGCTTGGAA	0.398000														10			19		0	0	0.000375601	0	0
DSCAML1	57453	broad.mit.edu	37	11	117302311	117302311	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr11:117302311G>A	uc001prh.1	-	30	5495	c.5493C>T	c.(5491-5493)tcC>tcT	p.S1831S		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1771					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCATGCTGGGAGCCCACGG	0.647000														16			25		0	0	0.000375601	0	0
C16orf88	400506	broad.mit.edu	37	16	19726093	19726093	+	Missense_Mutation	SNP	G	A	A	rs146629491	by1000genomes	TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr16:19726093G>A	uc002dgq.3	-	1	280	c.265C>T	c.(265-267)Cct>Tct	p.P89S	IQCK_uc002dgr.3_5'Flank|IQCK_uc002dgs.3_5'Flank|IQCK_uc010vat.2_5'Flank|IQCK_uc010bwc.3_5'Flank|IQCK_uc010vau.2_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	Homo sapiens chromosome 16 open reading frame 88 (C16orf88), mRNA.	89	Lys-rich.					nucleolus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	13						CGTCTAGCAGGCAGCGTGGTC	0.512000														44			22		0	0	0.00047179	0	0
C17orf74	201243	broad.mit.edu	37	17	7330098	7330098	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:7330098C>T	uc002ggw.3	+	2	861	c.788C>T	c.(787-789)tCc>tTc	p.S263F	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	263						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)				CGCCACGGTTCCCAATCCCGA	0.662000														16			15		0	0	0.000422831	0	0
KIAA0226	9711	broad.mit.edu	37	3	197403774	197403774	+	Silent	SNP	G	A	A			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:197403774G>A	uc003fyc.2	-	17	2811	c.2628C>T	c.(2626-2628)acC>acT	p.T876T	KIAA0226_uc003fyd.3_Silent_p.T831T|KIAA0226_uc021xjw.1_5'Flank|KIAA0226_uc003fye.1_Silent_p.T608T	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	876					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)		TCTCCACATGGGTAGCCCCTG	0.597000														33			15		0	0	0.00121646	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18757621	18757621	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:18757621C>T	uc010exr.3	-	7	1276	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A	NT5C1B-RDH14_uc002rcy.3_Silent_p.A446A|NT5C1B-RDH14_uc010yju.2_Silent_p.A386A|NT5C1B-RDH14_uc002rcz.3_Silent_p.A446A|NT5C1B-RDH14_uc010yjw.2_Silent_p.A429A|NT5C1B-RDH14_uc010yjv.2_Silent_p.A463A|NT5C1B-RDH14_uc010exs.3_Silent_p.A448A|NT5C1B-RDH14_uc002rda.3_Silent_p.A386A	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	446					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										CAAACATTGTCGCAGAGGCAA	0.428000														35			9		0	0	0.000274275	0	0
AQPEP	206338	broad.mit.edu	37	5	115336900	115336900	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr5:115336900T>C	uc003kro.3	+	9	1948	c.1784T>C	c.(1783-1785)cTt>cCt	p.L595P	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	595					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CCATTTTATCTTGAAAACATT	0.413000														79			38		0	0	0.000509022	0	0
PRDM16	63976	broad.mit.edu	37	1	3334427	3334427	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:3334427G>C	uc001akf.3	+	10	2809	c.2727G>C	c.(2725-2727)gaG>gaC	p.E909D	PRDM16_uc001ake.3_Missense_Mutation_p.E909D|PRDM16_uc009vlh.3_Missense_Mutation_p.E609D|PRDM16_uc001akc.3_Missense_Mutation_p.E908D	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	909	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGAAGCTGGAGAGCTTTGCAG	0.607000			T	EVI1	"""MDS, AML"""									78			51		0	0	0.000781405	0	0
COL5A2	1290	broad.mit.edu	37	2	189943830	189943830	+	Missense_Mutation	SNP	C	T	T	rs142312726		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr2:189943830C>T	uc002uqk.3	-	14	1239	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	COL5A2_uc010frx.3_Missense_Mutation_p.E75K	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	322					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGGCCAGCTTCACCCTAAAAA	0.378000														34			26		0	0	0.00178596	0	0
DOCK3	1795	broad.mit.edu	37	3	51370667	51370667	+	Silent	SNP	A	G	G			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:51370667A>G	uc011bds.2	+	34	3617	c.3594A>G	c.(3592-3594)gaA>gaG	p.E1198E		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1198	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCCTCATGGAACGTCTTCTTG	0.542000														63			25		0	0	0.000339439	0	0
MRPL4	51073	broad.mit.edu	37	19	10363306	10363306	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:10363306C>T	uc002mnm.3	+	3	358	c.204C>T	c.(202-204)tcC>tcT	p.S68S	MRPL4_uc002mnn.3_Silent_p.S68S|MRPL4_uc002mno.3_Silent_p.S68S	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	68					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GGGTCGAGTCCTTGCGGGGCT	0.677000														31			24		0	0	0.000586117	0	0
NF1	4763	broad.mit.edu	37	17	29665142	29665142	+	Silent	SNP	C	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:29665142C>T	uc002hgg.3	+	44	7187	c.6804C>T	c.(6802-6804)atC>atT	p.I2268I	NF1_uc002hgh.3_Silent_p.I2247I|NF1_uc010cso.3_Silent_p.I456I|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2268					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGCAGATAATCCGTATTCTTA	0.388000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				79			47		0	0	0.000781405	0	0
CEP70	80321	broad.mit.edu	37	3	138219316	138219317	+	Silent	DNP	GG	TT	TT			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr3:138219316_138219317GG>TT	uc003esl.3	-	14	1659_1660	c.1461_1462CC>AA	c.(1459-1464)ccccga>ccAAga	p.487_488PR>PR	CEP70_uc011bmk.2_Silent_p.467_468PR>PR|CEP70_uc011bml.2_Silent_p.469_470PR>PR|CEP70_uc011bmm.2_Silent_p.335_336PR>PR|CEP70_uc003esm.3_Silent_p.487_488PR>PR	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	487					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	p.R488R(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TCATTCATTCGGGGATAGACTC	0.376000														531			9		0	0	6.4e-05	0	0
ZNF614	80110	broad.mit.edu	37	19	52519474	52519474	+	Silent	SNP	T	C	C	rs73934727		TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr19:52519474T>C	uc002pyj.3	-	4	1779	c.1377A>G	c.(1375-1377)gaA>gaG	p.E459E	ZNF614_uc002pyi.4_Intron|ZNF614_uc010epj.3_Silent_p.E162E	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	Homo sapiens zinc finger protein 614 (ZNF614), mRNA.	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTTTACCACATTCATTGCATT	0.403000														62			34		0	0	0.00058488	0	0
ARAF	369	broad.mit.edu	37	X	47426163	47426163	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chrX:47426163A>T	uc011mlp.2	+	6	877	c.683A>T	c.(682-684)gAc>gTc	p.D228V	ARAF_uc011mln.2_Intron|ARAF_uc011mlo.2_Missense_Mutation_p.D94V|ARAF_uc004dic.1_Missense_Mutation_p.D9V	NM_001654	NP_001645	P10398	ARAF_HUMAN	Homo sapiens v-raf murine sarcoma 3611 viral oncogene homolog (ARAF), transcript variant 1, mRNA.	228					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GCCCCCATGGACTCCAACCTC	0.627000														28			19		0	0	0.000295444	0	0
GNAI3	2773	broad.mit.edu	37	1	110116536	110116537	+	Frame_Shift_Ins	INS	-	TA	TA			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr1:110116536_110116537insTA	uc001dxz.2	+	2	337_338	c.180_181insTA	c.(178-183)ggctatfs	p.G60fs		NM_006496	NP_006487	P08754	GNAI3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 (GNAI3), mRNA.	60					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		ATGAGGATGGCTATTCAGAGGA	0.342													---	42	---	---	14	---					
NDUFAF4	29078	broad.mit.edu	37	6	97339122	97339122	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr6:97339122delA	uc003pow.3	-	2	476	c.386delT	c.(385-387)ttcfs	p.F129fs	NDUFAF4_uc003pov.3_Non-coding_Transcript	NM_014165	NP_054884	Q9P032	NDUF4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4 (NDUFAF4), nuclear gene encoding mitochondrial protein, mRNA.	129					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding	p.F129S(2)		large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						GGTTTCTGGGAAAAGCTTATG	0.333													---	60	---	---	24	---					
ARIH1	25820	broad.mit.edu	37	15	72837239	72837241	+	In_Frame_Del	DEL	GAT	-	-			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:72837239_72837241delGAT	uc002aut.4	+	2	836_838	c.522_524delGAT	c.(520-525)cagatg>cag	p.M175del		NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN	Homo sapiens ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) (ARIH1), mRNA.	175					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						GAACACGCCAGATGAATACAAGG	0.414													---	62	---	---	19	---					
SYNM	23336	broad.mit.edu	37	15	99645432	99645432	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr15:99645432delC	uc002bup.3	+	0	147	c.27delC	c.(25-27)ggcfs	p.G9fs	SYNM_uc002buo.3_Frame_Shift_Del_p.G9fs|SYNM_uc002buq.3_Non-coding_Transcript	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	9	Head.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGCAGACGGGCCCCGAGAAGG	0.687													---	4	---	---	2	---					
MINK1	50488	broad.mit.edu	37	17	4790980	4790982	+	In_Frame_Del	DEL	GCA	-	-			TCGA-D3-A3C7-06A-11D-A196-08	TCGA-D3-A3C7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de7f226f-27a0-4e47-a39d-78b143ba64c5	0769ed5d-994a-4e62-a677-28c028d051f1	g.chr17:4790980_4790982delGCA	uc010vsl.2	+	11	1369_1371	c.1125_1127delGCA	c.(1123-1128)ctgcag>ctg	p.Q380del	MINK1_uc010vsk.2_In_Frame_Del_p.Q380del|MINK1_uc010vsm.2_In_Frame_Del_p.Q380del|MINK1_uc010vsn.2_In_Frame_Del_p.Q380del|MINK1_uc010vso.2_In_Frame_Del_p.Q325del|MINK1_uc010vsp.2_5'UTR	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	380					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						agcagcagctgcagcagcagcag	0.606													---	4	---	---	2	---