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
DNAJC13	23317	broad.mit.edu	37	3	132222072	132222072	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:132222072C>T	uc003eor.3	+	40	4796	c.4731C>T	c.(4729-4731)agC>agT	p.S1577S		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1577							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TAGCAAACAGCCTTGCCAAAC	0.373000														27			8		0	0	0.004482	0	0
ACE	1636	broad.mit.edu	37	17	61571793	61571793	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:61571793G>A	uc002jau.2	+	21	3376	c.3342G>A	c.(3340-3342)ggG>ggA	p.G1114G	ACE_uc010wpj.2_Silent_p.G540G|ACE_uc010ddv.2_Silent_p.G341G|ACE_uc002jav.2_Silent_p.G540G|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Silent_p.G360G	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1114	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTGACCCAGGGGCCAAGTTCC	0.542000														48			11		0	0	0.001368	0	0
HDAC5	10014	broad.mit.edu	37	17	42170121	42170121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:42170121G>A	uc002iff.1	-	6	1030	c.698C>T	c.(697-699)cCt>cTt	p.P233L	HDAC5_uc002ifd.1_Missense_Mutation_p.P232L|HDAC5_uc002ife.1_Missense_Mutation_p.P232L|HDAC5_uc010czp.1_Missense_Mutation_p.P232L|HDAC5_uc002ifh.2_Missense_Mutation_p.P232L	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	232					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase 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)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		AGGCGTCCCAGGGGGGCCGCT	0.647000														26			12		0	0	0.000978	0	0
abParts	0	broad.mit.edu	37	2	89161525	89161525	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:89161525C>T	uc021vkt.1	-	256		c.9771_splice	c.e256-1		abParts_uc002sti.1_5'Flank|abParts_uc002stj.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AAGCTCAACTCCCTTTTCGAG	0.463000														6			5		0	0	0.000602	0	0
ZNF429	353088	broad.mit.edu	37	19	21720869	21720869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:21720869C>T	uc002nqd.1	+	3	2151	c.2014C>T	c.(2014-2016)Cgt>Tgt	p.R672C	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	672					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						agatcgagaccgtcctggcta	0.478000														2			3		0	0	0.004672	0	0
GIPC1	10755	broad.mit.edu	37	19	14591154	14591154	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:14591154G>A	uc002myt.3	-	5	888	c.618C>T	c.(616-618)acC>acT	p.T206T	GIPC1_uc002myv.3_Silent_p.T109T|GIPC1_uc002myu.3_Silent_p.T206T|GIPC1_uc002myw.3_Silent_p.T109T|GIPC1_uc002myx.3_Silent_p.T206T|GIPC1_uc002myy.3_Silent_p.T109T	NM_005716	NP_974223	O14908	GIPC1_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.	206	PDZ.				G-protein coupled receptor protein signaling pathway|endothelial cell migration|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TCAGCGTGAAGGTACGGCCTC	0.701000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			12		0	0	0.002450	0	0
WDR90	197335	broad.mit.edu	37	16	708548	708548	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:708548C>T	uc002cii.1	+	22	2844	c.2790C>T	c.(2788-2790)ccC>ccT	p.P930P	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.P457P|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Silent_p.P104P|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	930										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ACCCTGAGCCCTGCCCCTCCT	0.662000														29			14		0	0	0.001216	0	0
CECR1	51816	broad.mit.edu	37	22	17684453	17684453	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:17684453C>T	uc002zmk.1	-	3	965	c.753_splice	c.e3+1	p.P251_splice	CECR1_uc010gqu.1_Splice_Site_p.P251_splice|CECR1_uc011agi.1_Splice_Site_p.P209_splice|CECR1_uc011agj.1_Splice_Site_p.P209_splice	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	251					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CTGGGCTCACCGGCAGCAGCC	0.532000														20			5		0	0	0.001168	0	0
SAMD9	54809	broad.mit.edu	37	7	92730882	92730882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:92730882G>A	uc003umf.3	-	2	4799	c.4529C>T	c.(4528-4530)tCc>tTc	p.S1510F	SAMD9_uc003umg.3_Missense_Mutation_p.S1510F|SAMD9_uc022ahg.1_Missense_Mutation_p.S1510F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1510						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGCCACAAGGAATTAATATC	0.358000														25			5		0	0	0.000602	0	0
TRAK1	22906	broad.mit.edu	37	3	42265111	42265111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:42265111G>A	uc003cky.3	+	15	2960	c.2744G>A	c.(2743-2745)cGg>cAg	p.R915Q	TRAK1_uc011azi.2_Missense_Mutation_p.R894Q	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	915					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGTGGCATCCGGCGGAATCGC	0.597000														21			21		0	0	0.001216	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786753	19786753	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:19786753G>A	uc003zoa.2	-	0	265	c.112C>T	c.(112-114)Cga>Tga	p.R38*	SLC24A2_uc003zob.2_Nonsense_Mutation_p.R38*	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	38					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CCTAAGACTCGAATTAACTTC	0.443000														35			33		0	0	0.002445	0	0
CCDC117	150275	broad.mit.edu	37	22	29182126	29182126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:29182126C>T	uc003aeb.3	+	4	828	c.652C>T	c.(652-654)Ctt>Ttt	p.L218F	CCDC117_uc011aki.2_Missense_Mutation_p.L200F|CCDC117_uc011akj.2_Missense_Mutation_p.L143F|CCDC117_uc011akk.2_Missense_Mutation_p.L86F	NM_173510	NP_775781	Q8IWD4	CC117_HUMAN	Homo sapiens coiled-coil domain containing 117 (CCDC117), mRNA.	218										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						CCCTGAACTCCTTTCTGATAA	0.433000														40			24		0	0	0.004656	0	0
WIZ	58525	broad.mit.edu	37	19	15558987	15558987	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:15558987G>A	uc002nbb.4	-	1	346	c.132C>T	c.(130-132)ttC>ttT	p.F44F	MIR1470_uc021upx.1_5'Flank	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1117						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGGTGGACCGGAAGATGCCAC	0.647000														41			46		0	0	0.003610	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300793	103300793	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:103300793C>T	uc002tca.3	+	4	1565	c.1423C>T	c.(1423-1425)Ctg>Ttg	p.L475L		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	475						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGTCTTCATTCTGGTAAGTAG	0.388000														51			18		0	0	0.007413	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78316504	78316504	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:78316504C>T	uc002bcy.4	-	5	1464	c.1464G>A	c.(1462-1464)agG>agA	p.R488R	TBC1D2B_uc010bla.3_Silent_p.R488R	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	488						intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TTACTTTCAGCCTGTCCAGTT	0.642000														17			9		0	0	0.006214	0	0
ARID5B	84159	broad.mit.edu	37	10	63852268	63852268	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:63852268C>T	uc001jlt.2	+	9	3502	c.3046C>T	c.(3046-3048)Ctg>Ttg	p.L1016L	ARID5B_uc001jlu.2_Silent_p.L773L	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	1016					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAAGCGCAGCCTGGAGGATTT	0.577000														64			15		0	0	0.004007	0	0
TCTE1	202500	broad.mit.edu	37	6	44255329	44255329	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:44255329G>A	uc003oxi.2	-	1	390	c.234C>T	c.(232-234)ctC>ctT	p.L78L	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.	78										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)			GCTCTGTGAGGAGGGGCACGA	0.582000														12			6		0	0	0.001168	0	0
TPO	7173	broad.mit.edu	37	2	1418267	1418268	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:1418267_1418268CC>TT	uc002qwr.3	+	1	173_174	c.87_88CC>TT	c.(85-90)ctcctt>ctTTtt	p.L30F	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.L30F|TPO_uc002qww.3_Missense_Mutation_p.L30F|TPO_uc002qwx.3_Missense_Mutation_p.L30F|TPO_uc002qwu.3_Missense_Mutation_p.L30F|TPO_uc010yio.2_Missense_Mutation_p.L30F|TPO_uc010yip.2_Missense_Mutation_p.L30F	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	30					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGAAAGAACTCCTTTGGGGTAA	0.460000														13			10		0	0	0.004672	0	0
DBX2	440097	broad.mit.edu	37	12	45410375	45410375	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:45410375C>T	uc001rok.1	-	3	886	c.714G>A	c.(712-714)agG>agA	p.R238R		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	238						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)		GCCATTTCATCCTCCTGTTCT	0.388000														54			17		0	0	0.007413	0	0
DDX50	79009	broad.mit.edu	37	10	70670979	70670979	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:70670979A>G	uc001jou.3	+	3	723	c.616A>G	c.(616-618)Att>Gtt	p.I206V	DDX50_uc001jot.3_Missense_Mutation_p.I206V	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	206	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TCAAGAAACAATTAAAAAAAG	0.373000														56			27		0	0	0.001512	0	0
C1orf150	148823	broad.mit.edu	37	1	247737453	247737453	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:247737453G>A	uc001idf.3	+	4	324	c.177G>A	c.(175-177)gaG>gaA	p.E59E	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.	59										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)			AGGAAAACGAGAATGGCAGTG	0.433000														58			38		0	0	0.003214	0	0
OR4D6	219983	broad.mit.edu	37	11	59224926	59224926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:59224926C>T	uc010rku.2	+	0	493	c.493C>T	c.(493-495)Cca>Tca	p.P165S		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCTGATGCTTCCATTCCCCTT	0.502000														64			33		0	0	0.002836	0	0
ZBTB26	57684	broad.mit.edu	37	9	125681566	125681566	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:125681566G>A	uc004bnk.3	-	1	722	c.648C>T	c.(646-648)ccC>ccT	p.P216P	ZBTB26_uc004bnj.3_Silent_p.P216P|ZBTB26_uc022bnc.1_Silent_p.P216P	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	Homo sapiens zinc finger and BTB domain containing 26 (ZBTB26), mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						GGGAGTGCTGGGGCTCTGATG	0.378000														33			11		0	0	0.000673	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921316	12921316	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:12921316C>T	uc001aum.1	+	3	1194	c.1107C>T	c.(1105-1107)atC>atT	p.I369I		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	369										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)		TCAGTGCCATCCTGCCTGGCC	0.562000														64			38		0	0	0.003755	0	0
C10orf137	26098	broad.mit.edu	37	10	127431743	127431743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:127431743C>T	uc001liq.1	+	17	2781	c.2488C>T	c.(2488-2490)Cca>Tca	p.P830S	C10orf137_uc001lin.3_Missense_Mutation_p.P796S|C10orf137_uc001lip.1_Missense_Mutation_p.P534S|C10orf137_uc001lio.1_Missense_Mutation_p.P796S|C10orf137_uc001lis.1_Missense_Mutation_p.P156S	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	830					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAGCCAAAATCCAGAACACTA	0.353000														21			15		0	0	0.002450	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453655	84453655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:84453655G>A	uc001vlk.3	-	0	2874	c.1988C>T	c.(1987-1989)tCc>tTc	p.S663F		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	663						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTCTGTAGGGAATTAATCTC	0.557000														18			13		0	0	0.001855	0	0
PLCL1	5334	broad.mit.edu	37	2	198948626	198948626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:198948626C>T	uc010fsp.3	+	1	783	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	PLCL1_uc002uuv.4_Missense_Mutation_p.R50C	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	129	Interaction with PPP1C.|PH.				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)	GCCAAATTCTCGCATTTACAA	0.453000														21			8		0	0	0.004482	0	0
COL11A1	1301	broad.mit.edu	37	1	103412448	103412449	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:103412448_103412449CC>TT	uc001dum.3	-	41	3586_3587	c.3268_3269GG>AA	c.(3268-3270)gga>AAa	p.G1090K	COL11A1_uc001duk.3_Missense_Mutation_p.G274K|COL11A1_uc001dul.3_Missense_Mutation_p.G1078K|COL11A1_uc001dun.3_Missense_Mutation_p.G1039K|COL11A1_uc009weh.3_Missense_Mutation_p.G962K	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1078	Triple-helical region.				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.P1089L(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)		ACCCTGAGGTCCCGGGCGCCCT	0.475000														22			6		0	0	0.004672	0	0
LARP4B	23185	broad.mit.edu	37	10	888923	888923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:888923G>A	uc001ifs.1	-	5	636	c.595C>T	c.(595-597)Cac>Tac	p.H199Y		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	199	HTH La-type RNA-binding.						RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TTCTTGATGTGGTCGAGGTTA	0.388000														22			10		0	0	0.006214	0	0
ATP2A2	488	broad.mit.edu	37	12	110719652	110719652	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:110719652G>A	uc001tqk.4	+	0	621	c.58G>A	c.(58-60)Gag>Aag	p.E20K	ATP2A2_uc001tql.4_Missense_Mutation_p.E20K|JA611269_uc021rds.1_5'Flank	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	20					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CGGCGTCAACGAGAGTACGGG	0.706000														6			4		0	0	0.000248	0	0
SLX4	84464	broad.mit.edu	37	16	3641088	3641088	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:3641088T>C	uc002cvp.2	-	11	3178	c.2551A>G	c.(2551-2553)Atg>Gtg	p.M851V		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	851	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATTTCTTCCATTTCTGCTTCA	0.502000								Direct reversal of damage						51			30		0	0	0.006320	0	0
NLRP4	147945	broad.mit.edu	37	19	56369793	56369793	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:56369793G>A	uc002qmd.4	+	2	1456	c.1034G>A	c.(1033-1035)tGg>tAg	p.W345*	NLRP4_uc002qmf.3_Nonsense_Mutation_p.W270*|NLRP4_uc010etf.3_Nonsense_Mutation_p.W176*	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	345	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTCCTCTGCTGGATCCTGTGT	0.478000														28			19		0	0	0.001216	0	0
FAM83G	644815	broad.mit.edu	37	17	18907103	18907103	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:18907103C>T	uc002guw.3	-	1	419	c.252G>A	c.(250-252)acG>acA	p.T84T	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	84										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GAGAGGGGCCCGTGCCCCGAG	0.701000														4			6		0	0	0.001168	0	0
FLG	2312	broad.mit.edu	37	1	152284875	152284875	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:152284875G>A	uc001ezu.1	-	2	2523	c.2487C>T	c.(2485-2487)tcC>tcT	p.S829S	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	829	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGTGCCTGGAGTTGTCTC	0.567000									Ichthyosis					135			63		0	0	0.003610	0	0
S1PR3	1903	broad.mit.edu	37	9	91616748	91616748	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:91616748C>T	uc022bjm.1	+	0	633	c.633C>T	c.(631-633)atC>atT	p.I211I	S1PR3_uc004aqe.3_Silent_p.I211I	NM_005226	NP_005217	Q99500	S1PR3_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA.	211					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TGGTGACCATCGTGATCCTCT	0.572000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			34		0	0	0.007835	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969428	47969428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:47969428G>A	uc010ele.3	-	0	249	c.233C>T	c.(232-234)gCc>gTc	p.A78V	SLC8A2_uc002pgx.3_Missense_Mutation_p.A78V|SLC8A2_uc010xyq.2_Intron|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	78					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GTAGACCATGGCCACAAAGTA	0.617000														17			9		0	0	0.004482	0	0
ADD2	119	broad.mit.edu	37	2	70890603	70890603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:70890603G>A	uc021vjc.1	-	15	2400	c.2135C>T	c.(2134-2136)cCc>cTc	p.P712L	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Missense_Mutation_p.P712L	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	712	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CAGGAAGGAGGGGGTTCGGAA	0.537000														89			39		0	0	0.003610	0	0
OR10G7	390265	broad.mit.edu	37	11	123909529	123909529	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:123909529G>A	uc001pzq.1	-	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;0.0521)		GGTTGGTGAGGAAGTAGTACA	0.542000														33			9		0	0	0.001855	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140207808	140207808	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140207808C>T	uc003lho.2	+	0	159	c.132C>T	c.(130-132)ttC>ttT	p.F44F	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_Silent_p.F44F|PCDHAC2_uc011dab.2_Silent_p.F44F	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	57	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.L44Q(1)		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)			ACGGCACCTTCGTGGGCCGGA	0.662000														26			26		0	0	0.004656	0	0
OSCP1	127700	broad.mit.edu	37	1	36884634	36884634	+	Silent	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:36884634T>C	uc001caq.3	-	8	1097	c.981A>G	c.(979-981)ccA>ccG	p.P327P		NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	Homo sapiens organic solute carrier partner 1 (OSCP1), transcript variant 1, mRNA.	337					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						ATAACTCTTCTGGCCTGGTTA	0.453000														116			62		0	0	0.003610	0	0
CHRD	8646	broad.mit.edu	37	3	184106458	184106458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:184106458C>T	uc003fov.3	+	20	2884	c.2638C>T	c.(2638-2640)Cca>Tca	p.P880S	CHRD_uc003fow.3_Missense_Mutation_p.P510S|CHRD_uc003fox.3_Missense_Mutation_p.P880S|CHRD_uc003foy.3_Missense_Mutation_p.P510S|CHRD_uc010hyc.3_Missense_Mutation_p.P470S|CHRD_uc011brr.2_Missense_Mutation_p.P422S	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	880	VWFC 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGTGGTTCCCAGAGAGTCA	0.637000														54			20		0	0	0.002299	0	0
SELO	83642	broad.mit.edu	37	22	50644880	50644880	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:50644880T>C	uc021wry.1	+	1	747	c.689T>C	c.(688-690)gTg>gCg	p.V230A	SELO_uc010hap.3_Missense_Mutation_p.V25A|SELO_uc003bjy.3_5'Flank	NM_031454		Q9BVL4	SELO_HUMAN	Homo sapiens selenoprotein O (SELO), mRNA.	230													all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GTGCGCGACGTGTTCTATGAT	0.567000											OREG0026675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			7		0	0	0.003080	0	0
OR4K5	79317	broad.mit.edu	37	14	20388826	20388826	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:20388826C>T	uc010tkw.2	+	0	61	c.61C>T	c.(61-63)Caa>Taa	p.Q21*		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGTAGTTCTCAAAAACTCCA	0.393000														26			17		0	0	0.006122	0	0
PROX1	5629	broad.mit.edu	37	1	214170566	214170566	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:214170566G>A	uc001hkh.3	+	1	960	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	PROX1_uc001hkg.1_Missense_Mutation_p.E230K	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	230					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGCCCGAAAAGAACAGAAGCG	0.517000														21			11		0	0	0.001368	0	0
MPDZ	8777	broad.mit.edu	37	9	13119590	13119590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:13119590C>T	uc010mia.1	-	37	5347	c.5290G>A	c.(5290-5292)Gga>Aga	p.G1764R	MPDZ_uc003zkx.4_Missense_Mutation_p.G29R|MPDZ_uc003zky.4_Missense_Mutation_p.G298R|MPDZ_uc010mib.3_Missense_Mutation_p.G469R|MPDZ_uc010mhx.3_Missense_Mutation_p.G586R|MPDZ_uc011lmm.2_Missense_Mutation_p.G623R|MPDZ_uc003zkz.4_Missense_Mutation_p.G457R|MPDZ_uc010mhz.3_Missense_Mutation_p.G1731R|MPDZ_uc011lmn.2_Missense_Mutation_p.G1731R|MPDZ_uc010mhy.3_Missense_Mutation_p.G1764R|MPDZ_uc003zlb.4_Missense_Mutation_p.G1764R	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1764	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATCAGTCTTCCATCGGCATCT	0.418000														26			31		0	0	0.002445	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255750	140255750	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140255750C>T	uc003lic.2	+	0	820	c.693C>T	c.(691-693)acC>acT	p.T231T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.T231T	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	246	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)			TTCAAATAACCGTCCTGGATG	0.423000														15			19		0	0	0.001216	0	0
FCF1	51077	broad.mit.edu	37	14	75201622	75201622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:75201622C>T	uc001xqh.3	+	7	637	c.586C>T	c.(586-588)Cct>Tct	p.P196S	FCF1_uc001xqf.1_Missense_Mutation_p.P181S|FCF1_uc001xqi.3_Non-coding_Transcript	NM_015962	NP_057046	Q9Y324	FCF1_HUMAN	Homo sapiens FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) (FCF1), mRNA.	196					rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		TTATGGAGCCCCTCGATTCTA	0.413000														28			38		0	0	0.007835	0	0
GLYATL2	219970	broad.mit.edu	37	11	58605776	58605776	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:58605776G>A	uc001nnd.4	-	2	275	c.144C>T	c.(142-144)gcC>gcT	p.A48A	GLYATL2_uc009ymq.3_Silent_p.A48A	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	48						mitochondrion	glycine N-acyltransferase activity			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)	AATCTGGCCAGGCATCTACCA	0.458000														35			14		0	0	0.002450	0	0
DDX50	79009	broad.mit.edu	37	10	70670845	70670845	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:70670845T>A	uc001jou.3	+	3	589	c.482T>A	c.(481-483)tTt>tAt	p.F161Y	DDX50_uc001jot.3_Missense_Mutation_p.F161Y	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	161						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ACATATCTCTTTCCTATTCAA	0.343000														57			48		0	0	0.003610	0	0
RP1L1	94137	broad.mit.edu	37	8	10465899	10465899	+	Silent	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:10465899T>C	uc003wtc.3	-	3	5938	c.5709A>G	c.(5707-5709)tcA>tcG	p.S1903S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1903					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)		CTGCACCTTCTGACTCTGGCT	0.587000														36			48		0	0	0.003610	0	0
SHROOM3	57619	broad.mit.edu	37	4	77675821	77675821	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:77675821C>T	uc011cbx.2	+	6	5138	c.4185C>T	c.(4183-4185)acC>acT	p.T1395T	SHROOM3_uc003hkg.3_Silent_p.T1173T	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1395					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACACCCTGACCCAGCCTCCCG	0.627000														12			4		0	0	0.000248	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398131	23398131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:23398131G>A	uc004dal.4	+	1	783	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	PTCHD1_uc010nfu.2_Missense_Mutation_p.E259K	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	259					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTCACTGAGGGAAGATTTCCA	0.517000														9			40		0	0	0.006230	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917245	48917245	+	Missense_Mutation	SNP	C	T	T	rs142981915	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:48917245C>T	uc002isv.4	+	1	1290	c.596C>T	c.(595-597)tCc>tTc	p.S199F	WFIKKN2_uc010dbu.3_Missense_Mutation_p.S106F	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	199						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ACCACAGCCTCCCCAGAGACC	0.617000														15			16		0	0	0.006122	0	0
MYO5B	4645	broad.mit.edu	37	18	47527636	47527636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:47527636G>A	uc002leb.2	-	4	889	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S	MYO5B_uc021ukb.1_Missense_Mutation_p.P200S	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	201	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCATGATGGGACTGGATGCC	0.592000														24			17		0	0	0.004990	0	0
CD22	933	broad.mit.edu	37	19	35829139	35829139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:35829139C>T	uc010edt.3	+	5	1138	c.1054C>T	c.(1054-1056)Ctt>Ttt	p.L352F	CD22_uc010edu.3_Intron|CD22_uc010edv.3_Missense_Mutation_p.L352F|CD22_uc002nzb.4_Intron|CD22_uc010xst.2_Missense_Mutation_p.L180F|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	352	Ig-like C2-type 3.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGTCGAGTTTCTTTGCATGTC	0.537000														30			21		0	0	0.003954	0	0
TDRD6	221400	broad.mit.edu	37	6	46660898	46660898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:46660898C>T	uc003oyj.3	+	0	5287	c.5033C>T	c.(5032-5034)cCt>cTt	p.P1678L	TDRD6_uc010jze.3_Missense_Mutation_p.P1678L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1678					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGTGATATCCCTTTAGCAATT	0.303000														9			11		0	0	0.001368	0	0
NLRP13	126204	broad.mit.edu	37	19	56423937	56423937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:56423937C>T	uc010ygg.2	-	4	1271	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	416	NACHT.						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)		AAGAGAGTTTCGTTTTTTCTT	0.463000														30			18		0	0	0.007413	0	0
ZNF99	7652	broad.mit.edu	37	19	22941130	22941130	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:22941130A>T	uc021urt.1	-	3	1736	c.1581T>A	c.(1579-1581)caT>caA	p.H527Q		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.H436Q(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)				GAATTATCTTATGTTTTCTAA	0.333000														7			7		0	0	0.006214	0	0
PMFBP1	83449	broad.mit.edu	37	16	72174409	72174409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:72174409C>T	uc002fcc.4	-	5	881	c.709G>A	c.(709-711)Gag>Aag	p.E237K	PMFBP1_uc002fcd.3_Missense_Mutation_p.E237K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.E92K	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	237										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTCTGAGTCTCCTGATGCTCT	0.428000														133			50		0	0	0.003610	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450714	85450714	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:85450714T>G	uc001tac.3	+	7	2254	c.2143T>G	c.(2143-2145)Tgc>Ggc	p.C715G	LRRIQ1_uc021rbo.1_Missense_Mutation_p.C593G|LRRIQ1_uc001taa.1_Missense_Mutation_p.C690G	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	715										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTCAGAAAAATGCCATGAAAA	0.383000														152			72		0	0	0.003610	0	0
GALNT13	114805	broad.mit.edu	37	2	155158006	155158006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:155158006C>T	uc002tyt.4	+	6	1164	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	GALNT13_uc002tyr.4_Missense_Mutation_p.P354S|GALNT13_uc010foc.1_Missense_Mutation_p.P173S|GALNT13_uc010fod.3_Missense_Mutation_p.P107S	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	354						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATACACTTTTCCTGGTGGCAC	0.438000														88			51		0	0	0.003610	0	0
FN1	2335	broad.mit.edu	37	2	216283967	216283967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:216283967G>A	uc002vfa.3	-	11	2083	c.1817C>T	c.(1816-1818)cCa>cTa	p.P606L	FN1_uc002vfc.3_Missense_Mutation_p.P606L|FN1_uc002vfe.3_Missense_Mutation_p.P606L|FN1_uc002vff.3_Missense_Mutation_p.P606L|FN1_uc002vfg.3_Missense_Mutation_p.P606L|FN1_uc002vfh.3_Missense_Mutation_p.P606L|FN1_uc002vfi.3_Missense_Mutation_p.P606L|FN1_uc002vfj.3_Missense_Mutation_p.P606L|FN1_uc002vfb.3_Missense_Mutation_p.P606L|FN1_uc002vfl.3_Missense_Mutation_p.P606L	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	606	Collagen-binding.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTACTTACTTGGATAGGTCTG	0.473000														24			13		0	0	0.003163	0	0
USP54	159195	broad.mit.edu	37	10	75258871	75258871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:75258871C>T	uc001juo.3	-	21	4588	c.4571G>A	c.(4570-4572)gGa>gAa	p.G1524E	USP54_uc010qkk.2_Missense_Mutation_p.G659E|USP54_uc001juk.3_Missense_Mutation_p.G612E|USP54_uc001jul.3_Missense_Mutation_p.G565E|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	1524					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CAAAGTCCTTCCTGTGTACTT	0.527000														112			57		0	0	0.003610	0	0
SCN9A	6335	broad.mit.edu	37	2	167060887	167060887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:167060887G>A	uc010fpl.3	-	24	4794	c.4453C>T	c.(4453-4455)Cca>Tca	p.P1485S	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1496						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)	CGAGGAATTGGCTTTTGTGGC	0.313000														25			23		0	0	0.003330	0	0
FRY	10129	broad.mit.edu	37	13	32841345	32841345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:32841345C>T	uc001utx.3	+	54	8481	c.7985C>T	c.(7984-7986)tCg>tTg	p.S2662L	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Missense_Mutation_p.S187L|FRY_uc010tdx.2_Missense_Mutation_p.S32L	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCCCCTCCCTCGCCCTTCTTC	0.537000														58			33		0	0	0.003271	0	0
PPP1R10	5514	broad.mit.edu	37	6	30572209	30572209	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:30572209C>T	uc003nqn.1	-	12	1734	c.1182G>A	c.(1180-1182)agG>agA	p.R394R	PPP1R10_uc010jsc.1_Silent_p.R48R	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	394	Essential for PPP1CA inhibition (By similarity).|Necessary for interaction with PPP1CA (By similarity).|Necessary for interaction with PPP1CC.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTTTCCTCTTCCTGCCTTTCC	0.483000														22			56		0	0	0.003610	0	0
CLN6	54982	broad.mit.edu	37	15	68504096	68504096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:68504096G>A	uc010ujz.2	-	3	737	c.499C>T	c.(499-501)Cac>Tac	p.H167Y	CLN6_uc002arf.3_Missense_Mutation_p.H135Y|CLN6_uc010ujy.2_Intron	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA.	135					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGCAGGCGGTGGTTGACAGAG	0.607000														61			30		0	0	0.002096	0	0
CDH16	1014	broad.mit.edu	37	16	66945820	66945820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:66945820G>A	uc002eql.3	-	12	1966	c.1772C>T	c.(1771-1773)cCc>cTc	p.P591L	CDH16_uc010cdy.3_Missense_Mutation_p.P591L|CDH16_uc021tjx.1_Missense_Mutation_p.P591L|CDH16_uc002eqm.3_Missense_Mutation_p.P494L	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	591	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D590E(1)		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)		TCGGCTGATGGGGTCGGAGGG	0.637000														27			14		0	0	0.002450	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022807	73022807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:73022807C>T	uc001otu.3	+	0	3145	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1042	Pro-rich.				actin cytoskeleton organization|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	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGAGGCCAAGCCCCCTGAGGC	0.642000														19			5		0	0	0.001168	0	0
NLRP8	126205	broad.mit.edu	37	19	56473470	56473470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:56473470G>A	uc002qmh.3	+	3	2151	c.2080G>A	c.(2080-2082)Gac>Aac	p.D694N	NLRP8_uc010etg.3_Missense_Mutation_p.D694N	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	694						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)		TTGGTGGCAAGACTTATGCTC	0.483000														62			29		0	0	0.003755	0	0
PTPRB	5787	broad.mit.edu	37	12	70949670	70949670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:70949670C>T	uc001swb.4	-	16	4349	c.4319G>A	c.(4318-4320)aGc>aAc	p.S1440N	PTPRB_uc010sto.2_Missense_Mutation_p.S1350N|PTPRB_uc010stp.2_Missense_Mutation_p.S1350N|PTPRB_uc001swc.4_Missense_Mutation_p.S1658N|PTPRB_uc001swa.4_Missense_Mutation_p.S1570N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1440	Fibronectin type-III 16.				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)			TGTGATAGTGCTGTCTTCAAC	0.522000														12			7		0	0	0.004482	0	0
KANSL1L	151050	broad.mit.edu	37	2	211018925	211018925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:211018925G>A	uc002vds.3	-	1	590	c.382C>T	c.(382-384)Cat>Tat	p.H128Y	KANSL1L_uc002vdt.3_Missense_Mutation_p.H128Y|KANSL1L_uc002vdw.3_Missense_Mutation_p.H128Y|KANSL1L_uc002vdy.1_Missense_Mutation_p.H128Y|KANSL1L_uc002vdv.3_Missense_Mutation_p.H128Y|KANSL1L_uc002vdx.1_Missense_Mutation_p.H128Y	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	Homo sapiens chromosome 2 open reading frame 67 (C2orf67), mRNA.	128																	TCTTCAGAATGAGAAAGACAG	0.363000														28			13		0	0	0.004007	0	0
CEP164	22897	broad.mit.edu	37	11	117251344	117251344	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:117251344G>A	uc001prc.3	+	11	1479	c.1332G>A	c.(1330-1332)ctG>ctA	p.L444L	CEP164_uc001prb.3_Silent_p.L444L|CEP164_uc010rxk.1_Silent_p.L418L|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	444					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGCAACCACTGGGAATAGAAG	0.537000														6			5		0	0	0.001168	0	0
CCDC80	151887	broad.mit.edu	37	3	112324500	112324500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:112324500C>T	uc003dzf.3	-	7	2835	c.2617G>A	c.(2617-2619)Gga>Aga	p.G873R	CCDC80_uc011bhv.2_Missense_Mutation_p.G846R|CCDC80_uc003dzg.3_Missense_Mutation_p.G873R	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	873								p.D872D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TTGACATTTCCGTCTTTTCCG	0.448000														29			11		0	0	0.000673	0	0
MYO7A	4647	broad.mit.edu	37	11	76910695	76910695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:76910695G>A	uc001oyb.2	+	34	4956	c.4684G>A	c.(4684-4686)Gga>Aga	p.G1562R	MYO7A_uc010rsm.1_Splice_Site_p.R1512_splice|MYO7A_uc001oyc.2_Splice_Site_p.R1523_splice|MYO7A_uc009yus.1_Splice_Site|MYO7A_uc009yut.1_Splice_Site_p.R734_splice	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1562	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTCCTGCAGGGGAGCGAAAAC	0.632000														6			6		0	0	0.001984	0	0
CTAG2	30848	broad.mit.edu	37	X	153880851	153880851	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:153880851G>A	uc004fmi.2	-	1	388	c.324C>T	c.(322-324)atC>atT	p.I108I	CTAG2_uc004fmh.2_Silent_p.I108I	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	108						centrosome		p.I108I(4)|p.I108S(1)		central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	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)					CCCGGGACAGGATCCTGCGGA	0.612000														7			22		0	0	0.003330	0	0
PADI1	29943	broad.mit.edu	37	1	17531800	17531800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:17531800C>T	uc001bah.1	+	0	180	c.88C>T	c.(88-90)Cac>Tac	p.H30Y		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	30					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TGTGGACATTCACAGGTAAGA	0.577000														19			4		0	0	0.000602	0	0
LILRB4	11006	broad.mit.edu	37	19	55177763	55177763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:55177763G>A	uc002qgp.3	+	7	1309	c.947G>A	c.(946-948)aGg>aAg	p.R316K	LILRB4_uc002qgq.3_Missense_Mutation_p.R316K|LILRB4_uc010ert.3_Missense_Mutation_p.R357K|LILRB4_uc010eru.3_Missense_Mutation_p.R345K	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	316						integral to membrane|plasma membrane	antigen binding|receptor activity	p.R316K(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GGCCTACAGAGGAGGTAATTC	0.617000														29			10		0	0	0.000978	0	0
CD276	80381	broad.mit.edu	37	15	73996205	73996205	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:73996205C>T	uc002avv.1	+	4	1173	c.939C>T	c.(937-939)ctC>ctT	p.L313L	CD276_uc010bjd.1_Silent_p.L167L|CD276_uc002avu.1_Silent_p.L313L|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Silent_p.L259L	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	313	Ig-like V-type 2.				T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GCACGGCCCTCTTCCCGGACC	0.632000														12			5		0	0	0.000602	0	0
SLC25A51P1	442229	broad.mit.edu	37	6	66498550	66498550	+	RNA	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:66498550C>T	uc011dxw.2	+	0		c.779C>T								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		AAACTTGTATCCTGGAATCCT	0.458000														5			12		0	0	0.001368	0	0
LRRC7	57554	broad.mit.edu	37	1	70452014	70452014	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:70452014C>T	uc001dep.3	+	7	792	c.762C>T	c.(760-762)gcC>gcT	p.A254A	LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	254						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GATGTGAAGCCCTTGAGGACC	0.338000														12			11		0	0	0.000978	0	0
KCNB2	9312	broad.mit.edu	37	8	73850049	73850049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:73850049G>A	uc003xzb.3	+	2	3047	c.2459G>A	c.(2458-2460)gGg>gAg	p.G820E		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	820					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.P819S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAGCTCCCAGGGGCAAGGGAG	0.507000														66			13		0	0	0.001855	0	0
SLC12A8	84561	broad.mit.edu	37	3	124826509	124826509	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:124826509C>T	uc003ehw.4	-	9	1678	c.1608G>A	c.(1606-1608)ttG>ttA	p.L536L	SLC12A8_uc003ehv.4_Silent_p.L507L|SLC12A8_uc003eht.4_Silent_p.L308L|SLC12A8_uc010hry.3_Silent_p.L260L	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	507					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						ATTTGAGGTCCAAGAGGAAGC	0.562000														52			34		0	0	0.003271	0	0
KLRK1	22914	broad.mit.edu	37	12	10539580	10539580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:10539580C>T	uc009zhj.3	-	2	247	c.70G>A	c.(70-72)Gat>Aat	p.D24N	AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Missense_Mutation_p.D24N|KLRK1_uc009zhk.3_Missense_Mutation_p.D24N|KLRK1_uc001qyd.3_Missense_Mutation_p.D24N	NM_007360	NP_001186734	P26718	NKG2D_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.	24					T cell costimulation|natural killer cell activation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TTCTTCAGATCCAAGTTATAA	0.338000														5			8		0	0	0.006214	0	0
PPARG	5468	broad.mit.edu	37	3	12421418	12421418	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:12421418C>T	uc003bwx.3	+	1	389	c.298C>T	c.(298-300)Caa>Taa	p.Q100*	PPARG_uc003bwr.3_Nonsense_Mutation_p.Q72*|PPARG_uc003bws.3_Nonsense_Mutation_p.Q72*|PPARG_uc003bwu.3_Nonsense_Mutation_p.Q72*|PPARG_uc003bwv.3_Nonsense_Mutation_p.Q72*|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc010hdz.1_Non-coding_Transcript|PPARG_uc003bwt.1_Nonsense_Mutation_p.Q72*|PPARG_uc003bww.1_Nonsense_Mutation_p.Q100*	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	100					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CCTGAAACTTCAAGAGTACCA	0.378000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							60			75		0	0	0.003610	0	0
PHKA2	5256	broad.mit.edu	37	X	18963270	18963270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:18963270C>T	uc004cyv.4	-	5	974	c.544G>A	c.(544-546)Gga>Aga	p.G182R	PHKA2_uc010nfh.1_Non-coding_Transcript|PHKA2_uc010nfi.1_Missense_Mutation_p.G124R	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	182					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCCCACATTCCATAATCCTGG	0.473000														5			15		0	0	0.002450	0	0
OR9A2	135924	broad.mit.edu	37	7	142723527	142723527	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:142723527C>T	uc003wcc.1	-	0	693	c.693G>A	c.(691-693)agG>agA	p.R231R		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AGAAGGCTTTCCTCCGGCCAG	0.488000														37			21		0	0	0.002780	0	0
KRT83	3889	broad.mit.edu	37	12	52708528	52708528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:52708528C>T	uc001saf.2	-	8	1432	c.1369G>A	c.(1369-1371)Gtc>Atc	p.V457I		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	457	Tail.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCACTGCAGACGCTGCCCGTC	0.672000														8			5		0	0	0.000602	0	0
KIF21B	23046	broad.mit.edu	37	1	200978053	200978053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:200978053C>T	uc001gvs.2	-	2	608	c.291G>A	c.(289-291)atG>atA	p.M97I	KIF21B_uc009wzl.2_Missense_Mutation_p.M97I|KIF21B_uc001gvr.2_Missense_Mutation_p.M97I|KIF21B_uc010ppn.2_Missense_Mutation_p.M97I	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	97	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGCCAGTGCCCATGGTGTACG	0.632000														48			28		0	0	0.006320	0	0
MAPK1	5594	broad.mit.edu	37	22	22142678	22142678	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:22142678C>T	uc002zvn.3	-	6	965	c.725_splice	c.e6-1	p.G242_splice	MAPK1_uc002zvo.3_Splice_Site_p.G242_splice|MAPK1_uc010gtk.1_Intron	NM_002745	NP_620407	P28482	MK01_HUMAN	Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	242	Protein kinase.				ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|RNA polymerase II carboxy-terminal domain kinase activity|phosphatase binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	CCAAGAATACCTATCAGATAA	0.358000														54			21		0	0	0.002780	0	0
ASB15	142685	broad.mit.edu	37	7	123257671	123257671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:123257671G>A	uc003vku.1	+	6	623	c.331G>A	c.(331-333)Gga>Aga	p.G111R	ASB15_uc003vkv.1_Missense_Mutation_p.G111R|ASB15_uc003vkw.1_Missense_Mutation_p.G111R	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	111					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GACCTGTGATGGAGAAACACC	0.378000														50			22		0	0	0.005443	0	0
GNB4	59345	broad.mit.edu	37	3	179123136	179123136	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:179123136A>C	uc003fjv.4	-	8	1038	c.758T>G	c.(757-759)tTt>tGt	p.F253C	GNB4_uc003fju.4_Intron	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 4 (GNB4), mRNA.	253					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			ACGAAGGTCAAAGAGCCGGCA	0.418000														18			6		0	0	0.001168	0	0
USP40	55230	broad.mit.edu	37	2	234442328	234442328	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:234442328T>A	uc010zmr.2	-	9	1301	c.1301A>T	c.(1300-1302)cAa>cTa	p.Q434L	USP40_uc010zmt.1_Missense_Mutation_p.Q78L	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	422					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GTCATTCCTTTGGAAATCAGA	0.393000														19			15		0	0	0.003163	0	0
HLA-A	3105	broad.mit.edu	37	6	29910668	29910668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:29910668G>A	uc003nol.3	+	1	292	c.208G>A	c.(208-210)Gag>Aag	p.E70K	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Missense_Mutation_p.E70K|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Missense_Mutation_p.G113E|HLA-A_uc010klp.2_Missense_Mutation_p.E42K|HLA-A_uc011dmc.2_5'UTR|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	70	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCAGAGGATGGAGCCGCGGGC	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)				7			9		0	0	0.000673	0	0
ANK3	288	broad.mit.edu	37	10	61834849	61834849	+	Silent	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:61834849T>C	uc001jky.3	-	36	6128	c.5790A>G	c.(5788-5790)caA>caG	p.Q1930Q	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.	1930					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						GGAGTTCAGGTTGGAATGGCT	0.403000														25			10		0	0	0.000673	0	0
EDAR	10913	broad.mit.edu	37	2	109522810	109522810	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:109522810C>T	uc010fjn.3	-	10	1621	c.1074G>A	c.(1072-1074)agG>agA	p.R358R	EDAR_uc010yws.2_Silent_p.R358R|EDAR_uc002teq.4_Silent_p.R326R	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	326	Death.		R -> Q (in EDA).		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						GGATCTTTTTCCTCCGGCTTT	0.507000														41			7		0	0	0.003080	0	0
USP34	9736	broad.mit.edu	37	2	61493252	61493252	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:61493252C>T	uc002sbe.3	-	41	5506	c.5484G>A	c.(5482-5484)aaG>aaA	p.K1828K	USP34_uc002sbf.3_5'UTR	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	1828					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTTGTCGGTCCTTTAGACTTG	0.383000														23			15		0	0	0.003163	0	0
COL6A2	1292	broad.mit.edu	37	21	47545180	47545180	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:47545180G>A	uc002zia.1	+	24	1853	c.1771_splice	c.e24-1	p.E591_splice	COL6A2_uc002zhz.1_Splice_Site_p.E591_splice|COL6A2_uc002zhy.1_Splice_Site_p.E591_splice	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	591	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGCATTGCAGGAGTGTGACGT	0.687000														43			30		0	0	0.001951	0	0
HKDC1	80201	broad.mit.edu	37	10	71020984	71020985	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:71020984_71020985GG>AA	uc001jpf.4	+	15	2439_2440	c.2306_2307GG>AA	c.(2305-2307)ggg>gAA	p.G769E	HKDC1_uc010qje.2_Missense_Mutation_p.G632E|HKDC1_uc009xqb.3_Non-coding_Transcript	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	769					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTCTTCCGAGGGCAGATTTCAG	0.530000														24			13		0	0	0.004672	0	0
PRAMEF13	400736	broad.mit.edu	37	1	13448286	13448286	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:13448286G>A	uc009vnt.1	-	3	1228	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	PRAMEF13_uc010obi.1_Silent_p.L397L	NM_001099854	NP_001093324	Q5VWM6	PRA13_HUMAN	Homo sapiens PRAME family member 14 (PRAMEF14), mRNA.	397										breast(1)|large_intestine(1)|lung(3)|skin(2)	7	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;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGCAACAGGTCCTTCAGG	0.547000														42			22		0	0	0.001512	0	0
VWF	7450	broad.mit.edu	37	12	6125316	6125316	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:6125316G>A	uc001qnn.1	-	30	5644	c.5394C>T	c.(5392-5394)atC>atT	p.I1798I	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1798	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCGTGACCAGGATGACCACCG	0.552000														15			13		0	0	0.001855	0	0
L1CAM	3897	broad.mit.edu	37	X	153134070	153134071	+	Silent	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:153134070_153134071GG>AA	uc004fjb.3	-	11	1599_1600	c.1491_1492CC>TT	c.(1489-1494)tgcctg>tgTTtg	p.497_498CL>CL	L1CAM_uc004fjc.3_Silent_p.497_498CL>CL|L1CAM_uc010nuo.3_Silent_p.492_493CL>CL|L1CAM_uc004fjd.1_Silent_p.311_312CL>CL	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	497	Ig-like C2-type 5.		C -> Y (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGGCAGCCAGGCAGAAGTAGC	0.554000														4			20		0	0	0.004672	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125204409	125204409	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:125204409G>A	uc010flu.3	+	5	1177	c.813G>A	c.(811-813)tcG>tcA	p.S271S	CNTNAP5_uc002tno.3_Silent_p.S271S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	271	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.H270N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACTGGCACTCGGTCCTCATTG	0.612000														27			11		0	0	0.000978	0	0
HIP1	3092	broad.mit.edu	37	7	75221720	75221720	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:75221720G>A	uc003uds.2	-	2	342	c.297C>T	c.(295-297)ttC>ttT	p.F99F	HIP1_uc011kfz.2_Silent_p.F99F	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	99	ENTH.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGAGTTTGTGGAACACATGGC	0.592000			T	PDGFRB	CMML									6			7		0	0	0.001984	0	0
HAO1	54363	broad.mit.edu	37	20	7895057	7895057	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:7895057G>A	uc002wmw.1	-	2	323	c.299C>T	c.(298-300)tCc>tTc	p.S100F	HAO1_uc010gbu.3_Missense_Mutation_p.S100F	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	100	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						CGTTCCCAGGGACTGACAGGC	0.502000														15			12		0	0	0.002450	0	0
PRB1	5542	broad.mit.edu	37	12	11506501	11506501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:11506501G>A	uc001qzw.1	-	3	570	c.533C>T	c.(532-534)cCa>cTa	p.P178L	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	199	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGTCCTTGTGGCTTTCCTGG	0.602000														29			50		0	0	0.003610	0	0
UGT2B11	10720	broad.mit.edu	37	4	70074168	70074168	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:70074168T>G	uc003heh.3	-	2	912	c.903A>C	c.(901-903)gaA>gaC	p.E301D	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	301					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CAACACCATTTTCTCCAGAGC	0.423000														72			30		0	0	0.003755	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54905578	54905578	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:54905578A>G	uc003dhf.3	+	17	1687	c.1639A>G	c.(1639-1641)Aaa>Gaa	p.K547E	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.K453E|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.K281E	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	547	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CGAAGAAGGAAAAAAGCGAAG	0.448000														23			18		0	0	0.001216	0	0
SULT2A1	6822	broad.mit.edu	37	19	48386976	48386976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:48386976G>A	uc002phr.2	-	1	343	c.203C>T	c.(202-204)tCt>tTt	p.S68F		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	68					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		GATGGGCACAGATTGGATCCA	0.483000														24			13		0	0	0.006122	0	0
RP1	6101	broad.mit.edu	37	8	55540583	55540583	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:55540583A>C	uc003xsd.1	+	3	4289	c.4141A>C	c.(4141-4143)Aaa>Caa	p.K1381Q	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1381					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCCTGAATATAAAAATGGATT	0.328000														48			25		0	0	0.003330	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466841	50466841	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:50466841G>A	uc001vdk.2	+	0	2297	c.2115G>A	c.(2113-2115)gtG>gtA	p.V705V						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		TGTTTCCAGTGGATACGAGGG	0.522000														83			29		0	0	0.001512	0	0
RYR3	6263	broad.mit.edu	37	15	33831581	33831581	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:33831581C>T	uc001zhi.3	+	5	534	c.464C>T	c.(463-465)gCt>gTt	p.A155V	RYR3_uc010bar.3_Missense_Mutation_p.A155V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	155	MIR 1.				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)		ATACATCCTGCTTCCAAACAG	0.458000														5			7		0	0	0.004482	0	0
PCLO	27445	broad.mit.edu	37	7	82584294	82584294	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:82584294T>A	uc003uhx.2	-	4	6264	c.5975A>T	c.(5974-5976)aAg>aTg	p.K1992M	PCLO_uc003uhv.2_Missense_Mutation_p.K1992M	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1923					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						AAGTCTTATCTTTTGCTCTCT	0.378000														101			50		0	0	0.003610	0	0
MYO1H	283446	broad.mit.edu	37	12	109853352	109853353	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:109853352_109853353GG>AA	uc010sxn.1	+	13	1476_1477	c.1476_1477GG>AA	c.(1474-1479)aagggc>aaAAgc	p.G493S		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CTGGTCCAAAGGGCCGAAAGAG	0.520000														2			3		0	0	0.004672	0	0
CACNA1G	8913	broad.mit.edu	37	17	48701351	48701351	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:48701351C>T	uc002irk.1	+	35	6516	c.6144C>T	c.(6142-6144)ccC>ccT	p.P2048P	CACNA1G_uc002irj.1_Silent_p.P1921P|CACNA1G_uc002irl.1_Silent_p.P1932P|CACNA1G_uc002irm.1_Silent_p.P1969P|CACNA1G_uc002irn.1_Silent_p.P1914P|CACNA1G_uc002iro.1_Silent_p.P1921P|CACNA1G_uc002irp.1_Silent_p.P2003P|CACNA1G_uc002irq.1_Silent_p.P2025P|CACNA1G_uc002irr.1_Silent_p.P1955P|CACNA1G_uc002irs.1_Silent_p.P1992P|CACNA1G_uc002irt.1_Silent_p.P1937P|CACNA1G_uc002iru.1_Silent_p.P2014P|CACNA1G_uc002irv.1_Silent_p.P1944P|CACNA1G_uc002irw.1_Silent_p.P1977P|CACNA1G_uc002irx.1_Silent_p.P1868P|CACNA1G_uc002iry.1_Silent_p.P1857P|CACNA1G_uc002isg.1_Silent_p.P1816P|CACNA1G_uc002ish.1_Silent_p.P1823P|CACNA1G_uc002isi.1_Silent_p.P1811P|CACNA1G_uc002irz.1_Silent_p.P1861P|CACNA1G_uc002isa.1_Silent_p.P1834P|CACNA1G_uc002isd.1_Silent_p.P1843P|CACNA1G_uc002isb.1_Silent_p.P1875P|CACNA1G_uc002isc.1_Silent_p.P1950P|CACNA1G_uc002ise.1_Silent_p.P1871P|CACNA1G_uc002isf.1_Silent_p.P1898P	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	2048					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)	ACTCTCTGCCCAATGACAGCT	0.632000														24			44		0	0	0.002522	0	0
FAM47A	158724	broad.mit.edu	37	X	34148540	34148540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:34148540C>T	uc004ddg.3	-	0	1908	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	619										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						TTCATCAGCTCCCAGGTCTCC	0.433000														8			21		0	0	0.003954	0	0
ANK2	287	broad.mit.edu	37	4	114279687	114279687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:114279687C>T	uc003ibe.4	+	37	10013	c.9913C>T	c.(9913-9915)Cct>Tct	p.P3305S	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.P3320S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3272					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCCAAAATTCCTGTAAGGAC	0.428000														60			23		0	0	0.006320	0	0
DSG2	1829	broad.mit.edu	37	18	29101149	29101149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:29101149G>A	uc002kwu.4	+	4	654	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	156	Cadherin 1.				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)			CAATGACAACGAACCAGTGTT	0.373000														26			27		0	0	0.001786	0	0
TEX11	56159	broad.mit.edu	37	X	69774522	69774522	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:69774522T>C	uc004dyl.3	-	26	2476	c.2314A>G	c.(2314-2316)Aaa>Gaa	p.K772E	TEX11_uc004dyk.3_Missense_Mutation_p.K447E|TEX11_uc004dym.3_Missense_Mutation_p.K757E	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	772							protein binding	p.H772Q(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCAAAAGTTTTAGTTTCTAAA	0.363000														5			8		0	0	0.004482	0	0
RFX6	222546	broad.mit.edu	37	6	117248234	117248234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:117248234C>T	uc003pxm.3	+	16	1993	c.1930C>T	c.(1930-1932)Ccc>Tcc	p.P644S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	644					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GATGACACCACCCATTTCTCC	0.488000														21			27		0	0	0.006320	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846785	47846785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:47846785C>T	uc011dwm.2	-	2	1829	c.1795G>A	c.(1795-1797)Gat>Aat	p.D599N	PTCHD4_uc011dwn.2_Missense_Mutation_p.D346N	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	599						integral to membrane	hedgehog receptor activity										TTGCTTTCATCCCCTGCCTTG	0.423000														18			12		0	0	0.001368	0	0
SLC6A7	6534	broad.mit.edu	37	5	149574312	149574312	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:149574312A>C	uc003lrr.3	+	1	426	c.55A>C	c.(55-57)Atg>Ctg	p.M19L		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	19						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	AGACCTGCTGATGACCCCCAG	0.582000														4			6		0	0	0.001168	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466161	50466161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:50466161G>A	uc001vdk.2	+	0	1617	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		TTTAAGGAAAGAAAATGCTCA	0.313000														9			6		0	0	0.001168	0	0
HERC5	51191	broad.mit.edu	37	4	89390350	89390350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:89390350G>A	uc003hrt.3	+	8	1330	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	HERC5_uc011cdm.2_Missense_Mutation_p.E31K	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	393					ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TACTCTGAATGAAGGGACTGT	0.398000														13			6		0	0	0.001984	0	0
ANKFN1	162282	broad.mit.edu	37	17	54428197	54428197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:54428197C>T	uc002iun.1	+	3	303	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	90										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACATAGTGCTCCCTCATCTCC	0.433000														41			17		0	0	0.004007	0	0
OR5D13	390142	broad.mit.edu	37	11	55541213	55541213	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:55541213C>T	uc010ril.2	+	0	300	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTGGTTGCATCATGCAATTTT	0.408000														64			24		0	0	0.003330	0	0
DLEC1	9940	broad.mit.edu	37	3	38104199	38104199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:38104199C>T	uc003chp.1	+	4	1022	c.1001C>T	c.(1000-1002)cCt>cTt	p.P334L	DLEC1_uc003cho.1_Missense_Mutation_p.P334L|DLEC1_uc010hgv.1_Missense_Mutation_p.P334L|DLEC1_uc010hgw.1_Missense_Mutation_p.P33L|DLEC1_uc003chq.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	334					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGTTTTTTTCCTCCTAACACT	0.473000														29			25		0	0	0.003330	0	0
MCM5	4174	broad.mit.edu	37	22	35815966	35815967	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:35815966_35815967GG>AA	uc003anu.4	+	13	1887_1888	c.1793_1794GG>AA	c.(1792-1794)agg>aAA	p.R598K	MCM5_uc003anv.4_Missense_Mutation_p.R555K|MCM5_uc003anw.1_Missense_Mutation_p.R382K	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	598				ARQHERDSDRR -> PVSTRGTVTA (in Ref. 3; BAA12176).	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	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CAGCACGAGAGGGACAGTGACC	0.644000														50			22		0	0	0.004672	0	0
UBIAD1	29914	broad.mit.edu	37	1	11346122	11346122	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:11346122C>T	uc001asg.3	+	1	1285	c.951C>T	c.(949-951)ctC>ctT	p.L317L		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA.	317					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		AGCTCAACCTCCTGCTGGGAC	0.547000														34			18		0	0	0.006122	0	0
ZNF792	126375	broad.mit.edu	37	19	35449162	35449162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:35449162G>A	uc002nxh.1	-	3	1984	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CACTCATAAGGCCGCTCGCCG	0.522000														12			12		0	0	0.000978	0	0
SLC44A5	204962	broad.mit.edu	37	1	75679471	75679471	+	Silent	SNP	C	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:75679471C>G	uc010oqz.1	-	20	2064	c.1998G>C	c.(1996-1998)ctG>ctC	p.L666L	SLC44A5_uc001dgt.2_Silent_p.L627L|SLC44A5_uc001dgs.2_Silent_p.L585L|SLC44A5_uc001dgr.2_Silent_p.L585L|SLC44A5_uc001dgu.3_Silent_p.L627L|SLC44A5_uc010ora.2_Silent_p.L621L|SLC44A5_uc010orb.2_Silent_p.L497L	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	627						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ATAGGAAGGCCAGAACACCTA	0.368000														53			28		0	0	0.007291	0	0
JHDM1D	80853	broad.mit.edu	37	7	139791834	139791834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:139791834G>A	uc003vvm.3	-	18	2505	c.2501C>T	c.(2500-2502)tCa>tTa	p.S834L	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	834					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACTAATTTCTGATGAACCTTC	0.418000														15			9		0	0	0.004482	0	0
CCDC109B	55013	broad.mit.edu	37	4	110585478	110585478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:110585478G>A	uc011cfs.2	+	3	518	c.379G>A	c.(379-381)Gat>Aat	p.D127N	CCDC109B_uc010imf.2_Missense_Mutation_p.D127N	NM_017918	NP_060388	Q9NWR8	C109B_HUMAN	Homo sapiens coiled-coil domain containing 109B (CCDC109B), mRNA.	127						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		TACCTTGATGGATATTTTGCT	0.333000														13			4		0	0	0.000602	0	0
NPTXR	23467	broad.mit.edu	37	22	39222537	39222537	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:39222537G>A	uc003awk.3	-	2	1220	c.1066C>T	c.(1066-1068)Cat>Tat	p.H356Y		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	356	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					ATGGGCTCATGGCCCGCCTCT	0.662000														37			29		0	0	0.002445	0	0
TPH1	7166	broad.mit.edu	37	11	18047183	18047183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:18047183G>A	uc001mnp.2	-	6	895	c.869C>T	c.(868-870)tCc>tTc	p.S290F	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	290					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AATTTCTTGGGAGAATTGGGC	0.463000														19			27		0	0	0.006320	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827034	43827034	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:43827034G>A	uc001zrw.3	-	30	4344	c.4140C>T	c.(4138-4140)atC>atT	p.I1380I	PPIP5K1_uc021sjw.1_Silent_p.I1355I|PPIP5K1_uc001zrx.2_Silent_p.I1353I|PPIP5K1_uc001zry.4_Silent_p.I1355I|PPIP5K1_uc021sjx.1_Silent_p.I309I	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA.	1380					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						GGTATGGCTGGATGACCTCCT	0.527000														62			32		0	0	0.003271	0	0
ADAR	103	broad.mit.edu	37	1	154574584	154574585	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:154574584_154574585GG>AA	uc001ffh.3	-	1	775_776	c.533_534CC>TT	c.(532-534)tcc>tTT	p.S178F	ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Missense_Mutation_p.S178F|ADAR_uc001ffi.3_Missense_Mutation_p.S178F|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	178					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCTTTGCCAGGGAGTATAAAAC	0.515000														95			42		0	0	0.004672	0	0
SRGAP1	57522	broad.mit.edu	37	12	64491137	64491137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:64491137G>A	uc010ssp.1	+	14	1851	c.1795G>A	c.(1795-1797)Gat>Aat	p.D599N	SRGAP1_uc001srv.2_Missense_Mutation_p.D536N	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	599	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAGATTTAACGATCTGATTTC	0.423000														20			15		0	0	0.006122	0	0
ETV5	2119	broad.mit.edu	37	3	185823650	185823650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:185823650C>T	uc003fpy.3	-	1	199	c.134G>A	c.(133-135)gGg>gAg	p.G45E	ETV5_uc003fpz.3_Missense_Mutation_p.G3E	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	3					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATCATAAAACCCGTCCATGGT	0.448000			T	"""TMPRSS2, SCL45A3"""	Prostate									26			9		0	0	0.000673	0	0
SYT16	83851	broad.mit.edu	37	14	62462984	62462984	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:62462984T>C	uc001xfu.1	+	0	444	c.247T>C	c.(247-249)Tcc>Ccc	p.S83P	SYT16_uc010tsd.1_Missense_Mutation_p.S83P	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	83										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)		GGATGCAAATTCCTTGTTTCT	0.393000														76			21		0	0	0.001882	0	0
EPX	8288	broad.mit.edu	37	17	56271413	56271413	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:56271413G>A	uc002ivq.3	+	4	673	c.554G>A	c.(553-555)tGg>tAg	p.W185*		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	185					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCCTTCGGCTGGACCCCCAGC	0.612000														23			14		0	0	0.002450	0	0
MAN1C1	57134	broad.mit.edu	37	1	26085109	26085109	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:26085109G>A	uc001bkm.2	+	5	1286	c.956G>A	c.(955-957)gGc>gAc	p.G319D	MAN1C1_uc009vry.1_Missense_Mutation_p.G139D	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	319					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GCCACAGCCGGCAGCAGCAGC	0.577000														21			8		0	0	0.004482	0	0
MACF1	23499	broad.mit.edu	37	1	39945528	39945529	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:39945528_39945529CC>TT	uc021olw.1	+	61	17277_17278	c.17277_17278CC>TT	c.(17275-17280)tcccag>tcTTag	p.Q5760*	MACF1_uc021ols.1_Nonsense_Mutation_p.Q5249*|MACF1_uc021olt.1_Nonsense_Mutation_p.Q5252*|MACF1_uc001cde.2_Nonsense_Mutation_p.Q129*|MACF1_uc001cdg.3_Nonsense_Mutation_p.Q43*|MACF1_uc001cdh.3_Nonsense_Mutation_p.Q43*	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7210					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGGAGCATCCCAGGGAATGAC	0.490000														26			13		0	0	0.004672	0	0
abParts	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:22664606A>G	uc021wml.1	+	32		c.2706A>G			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GTCTTCATGCAAACTTGGTAT	0.398000														12			3		0	0	0.004672	0	0
ZNF750	79755	broad.mit.edu	37	17	80788671	80788671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:80788671C>T	uc002kga.3	-	2	1830	c.1519G>A	c.(1519-1521)Gac>Aac	p.D507N	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.	507						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)			CCGGAGCTGTCGTCCGGACTG	0.612000														26			14		0	0	0.004007	0	0
LILRA1	11024	broad.mit.edu	37	19	55087361	55087361	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:55087361G>T	uc010ern.3	+	6	1509	c.1040G>T	c.(1039-1041)cGg>cTg	p.R347L	LILRA1_uc002qgg.4_Missense_Mutation_p.R347L|LILRA1_uc002qgf.3_Missense_Mutation_p.R347L|LILRA1_uc010yfe.1_Missense_Mutation_p.R347L|LILRA1_uc010yff.1_Missense_Mutation_p.R335L|LILRA1_uc010ero.3_Missense_Mutation_p.R335L|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	349	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			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)		TGTCAGTCACGGGGGCAGTTC	0.572000														20			16		3.32936e-07	4.14981e-07	0.006122	1	0
PCDH15	65217	broad.mit.edu	37	10	55839163	55839163	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:55839163C>T	uc010qhy.1	-	17	2429	c.2034G>A	c.(2032-2034)ggG>ggA	p.G678G	PCDH15_uc010qhq.2_Silent_p.G678G|PCDH15_uc010qhr.2_Silent_p.G673G|PCDH15_uc021pqv.1_Silent_p.G673G|PCDH15_uc021pqw.1_Silent_p.G685G|PCDH15_uc010qht.2_Silent_p.G680G|PCDH15_uc021pqx.1_Silent_p.G673G|PCDH15_uc001jjv.1_Silent_p.G651G|PCDH15_uc021pqy.1_Silent_p.G673G|PCDH15_uc021pqz.1_Silent_p.G651G|PCDH15_uc010qhv.1_Silent_p.G673G|PCDH15_uc010qhw.1_Silent_p.G636G|PCDH15_uc010qhx.1_Silent_p.G602G|PCDH15_uc010qhz.1_Silent_p.G673G|PCDH15_uc010qia.1_Silent_p.G651G|PCDH15_uc001jju.1_Silent_p.G673G|PCDH15_uc010qib.1_Silent_p.G651G|PCDH15_uc001jjw.3_Silent_p.G673G	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	673	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCAGTGCTTTCCCTAAGGTTA	0.428000										HNSCC(58;0.16)				131			63		0	0	0.003610	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120377	38120377	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:38120377G>C	uc003atr.3	+	6	2085	c.1814G>C	c.(1813-1815)cGg>cCg	p.R605P	TRIOBP_uc003atu.3_Missense_Mutation_p.R433P|TRIOBP_uc003atq.1_Missense_Mutation_p.R605P|TRIOBP_uc003ats.1_Missense_Mutation_p.R433P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	605					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGTGCCCAGCGGGACAATCCC	0.587000														61			11		0	0	0.000673	0	0
TTN	7273	broad.mit.edu	37	2	179395008	179395008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179395008C>T	uc021vsy.1	-	306	98855	c.98630G>A	c.(98629-98631)gGa>gAa	p.G32877E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G26572E|TTN_uc021vta.1_Missense_Mutation_p.G26505E|TTN_uc021vtb.1_Missense_Mutation_p.G26380E|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33804							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)			CCGGGGTTCTCCAGTAGCCTT	0.383000														84			32		0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179477694	179477694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179477694G>A	uc021vsy.1	-	213	42275	c.42050C>T	c.(42049-42051)tCt>tTt	p.S14017F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S7712F|TTN_uc021vta.1_Missense_Mutation_p.S7645F|TTN_uc021vtb.1_Missense_Mutation_p.S7520F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14944	Fibronectin type-III 1.						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)			AATGACATAAGACTCAATCTT	0.483000														27			11		0	0	0.000673	0	0
SORT1	6272	broad.mit.edu	37	1	109869750	109869750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:109869750G>A	uc001dxm.2	-	12	1556	c.1507C>T	c.(1507-1509)Cca>Tca	p.P503S	SORT1_uc010ovi.2_Missense_Mutation_p.P366S	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	503					Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TACACATCTGGAACCATCACT	0.478000														191			91		0	0	0.003610	0	0
SETD1A	9739	broad.mit.edu	37	16	30976009	30976009	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:30976009G>T	uc002ead.1	+	6	1632	c.946G>T	c.(946-948)Gca>Tca	p.A316S		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	316	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCACTTCTCTGCATCTTCAGC	0.607000														42			23		5.49717e-05	6.82744e-05	0.003330	1	0
NWD1	284434	broad.mit.edu	37	19	16918482	16918482	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:16918482C>T	uc002neu.4	+	17	4244	c.3822C>T	c.(3820-3822)ctC>ctT	p.L1274L	NWD1_uc002net.4_Silent_p.L1139L|NWD1_uc002nev.4_Silent_p.L1068L|NWD1_uc021uqg.1_Silent_p.L1139L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1274							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTACGGGCCTCGTGTCGGGGG	0.577000														25			32		0	0	0.002836	0	0
FAM102A	399665	broad.mit.edu	37	9	130710456	130710457	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:130710456_130710457GG>AA	uc004bsx.2	-	5	905_906	c.509_510CC>TT	c.(508-510)tcc>tTT	p.S170F	FAM102A_uc004bsw.1_Missense_Mutation_p.S28F|FAM102A_uc004bsy.1_5'UTR	NM_001035254	NP_976050	Q5T9C2	F102A_HUMAN	Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA.	170	Ser-rich.									breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCAGCTGCAGGGAGGAATCCTG	0.619000														29			12		0	0	0.004672	0	0
PCLO	27445	broad.mit.edu	37	7	82545811	82545811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:82545811G>A	uc003uhx.2	-	6	11780	c.11491C>T	c.(11491-11493)Cgt>Tgt	p.R3831C	PCLO_uc003uhv.2_Missense_Mutation_p.R3831C|PCLO_uc010lec.3_Missense_Mutation_p.R796C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3762	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R3831C(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						ATGTAATCACGATCCTCAGCT	0.473000														39			24		0	0	0.003954	0	0
TGM3	7053	broad.mit.edu	37	20	2312718	2312718	+	Silent	SNP	G	A	A	rs45594433	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:2312718G>A	uc002wfx.4	+	9	1501	c.1404G>A	c.(1402-1404)gcG>gcA	p.A468A		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	468		Cleavage; by CTSL.			cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CATTTGCCGCGACGTCTTCAA	0.522000														23			13		0	0	0.001855	0	0
PFKFB3	5209	broad.mit.edu	37	10	6255623	6255623	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:6255623C>T	uc001ije.3	+	1	498	c.114C>T	c.(112-114)atC>atT	p.I38I	PFKFB3_uc001ijd.3_Silent_p.I18I|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Silent_p.I52I|PFKFB3_uc001ijf.3_Silent_p.I38I	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	38	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	p.I38I(3)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CCACCGTCATCGTCATGGTGG	0.582000														55			26		0	0	0.005443	0	0
SERPINA7	6906	broad.mit.edu	37	X	105278308	105278308	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:105278308A>C	uc010npd.3	-	2	1197	c.962T>G	c.(961-963)tTg>tGg	p.L321W	SERPINA7_uc004eme.2_Missense_Mutation_p.L321W	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	321					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GCCCATCTTCAAAAGTGTGGC	0.413000														14			27		0	0	0.006320	0	0
ZNF167	55888	broad.mit.edu	37	3	44607118	44607118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:44607118G>A	uc003cnj.3	+	2	979	c.563G>A	c.(562-564)gGg>gAg	p.G188E	ZNF167_uc003cnk.3_Missense_Mutation_p.G188E|ZNF167_uc003cnh.3_Non-coding_Transcript|ZNF167_uc010hin.3_Missense_Mutation_p.G188E|ZNF167_uc003cni.3_Missense_Mutation_p.G188E|ZNF167_uc010hio.3_Missense_Mutation_p.G38E	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	188					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		TATGACCCAGGGACACACCAC	0.572000														27			17		0	0	0.004990	0	0
TJP2	9414	broad.mit.edu	37	9	71861675	71861675	+	Missense_Mutation	SNP	A	T	T	rs75450131	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:71861675A>T	uc004ahe.3	+	17	2954	c.2636A>T	c.(2635-2637)cAa>cTa	p.Q879L	TJP2_uc011lrs.2_Missense_Mutation_p.Q856L|TJP2_uc011lrt.1_Missense_Mutation_p.Q856L|TJP2_uc004ahd.3_Missense_Mutation_p.Q879L|TJP2_uc004ahf.3_Missense_Mutation_p.Q879L|TJP2_uc011lru.2_Missense_Mutation_p.Q883L|TJP2_uc011lrv.2_Missense_Mutation_p.Q910L|TJP2_uc010mom.1_Missense_Mutation_p.Q39L	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	879					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CAGCATCAGCAAGGAGAAGCG	0.423000														54			13		0	0	0.001855	0	0
CACNB2	783	broad.mit.edu	37	10	18828384	18828384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:18828384G>A	uc001ipr.2	+	13	1774	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	CACNB2_uc001ipt.2_Missense_Mutation_p.E534K|CACNB2_uc009xjz.1_Missense_Mutation_p.E322K|CACNB2_uc001ips.2_Missense_Mutation_p.E548K|CACNB2_uc001ipu.3_Missense_Mutation_p.E544K|CACNB2_uc001ipv.3_Missense_Mutation_p.E520K|CACNB2_uc009xka.2_Missense_Mutation_p.E506K|CACNB2_uc001ipw.2_Missense_Mutation_p.E479K|CACNB2_uc001ipx.2_Missense_Mutation_p.E517K|CACNB2_uc001ipz.2_Missense_Mutation_p.E494K|CACNB2_uc001ipy.2_Missense_Mutation_p.E518K|CACNB2_uc010qco.1_Missense_Mutation_p.E486K|CACNB2_uc001iqa.2_Missense_Mutation_p.E524K|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	572					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.R572H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGAGCCAAAGGAAGATTATTC	0.567000														9			6		0	0	0.001168	0	0
OR10G2	26534	broad.mit.edu	37	14	22102462	22102462	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:22102462C>T	uc010tmc.2	-	0	537	c.537G>A	c.(535-537)gtG>gtA	p.V179V		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TAAAGTAATCCACCTGATTGG	0.572000														37			18		0	0	0.007413	0	0
LPAR1	1902	broad.mit.edu	37	9	113703904	113703904	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:113703904T>C	uc011lwo.2	-	1	595	c.593A>G	c.(592-594)aAc>aGc	p.N198S	LPAR1_uc004bfa.3_Missense_Mutation_p.N197S|LPAR1_uc011lwm.2_Missense_Mutation_p.N198S|LPAR1_uc004bfc.3_Missense_Mutation_p.N197S|LPAR1_uc011lwn.2_Missense_Mutation_p.N179S|LPAR1_uc004bfb.3_Missense_Mutation_p.N197S|LPAR1_uc010mub.3_Missense_Mutation_p.N197S	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	197					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GGGTGCCATGTTGGAACAATT	0.463000														40			18		0	0	0.001523	0	0
TAT	6898	broad.mit.edu	37	16	71610304	71610304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:71610304C>T	uc002fap.2	-	1	114	c.15G>A	c.(13-15)atG>atA	p.M5I	TAT_uc002faq.3_Missense_Mutation_p.M5I|TAT_uc002far.3_Missense_Mutation_p.M5I	NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	5					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TCATCTGAATCATGTATGGGT	0.512000														41			16		0	0	0.007413	0	0
NLRP7	199713	broad.mit.edu	37	19	55451794	55451794	+	Silent	SNP	A	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:55451794A>T	uc002qih.4	-	3	469	c.393T>A	c.(391-393)tcT>tcA	p.S131S	NLRP7_uc010esk.3_Silent_p.S131S|NLRP7_uc002qig.4_Silent_p.S131S|NLRP7_uc002qii.4_Silent_p.S131S|NLRP7_uc010esl.3_Silent_p.S159S	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	131							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCCAGACCAAAGACTGTTTCT	0.418000														205			110		0	0	0.003610	0	0
ADCK1	57143	broad.mit.edu	37	14	78397985	78397985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:78397985C>T	uc001xui.3	+	9	1430	c.1331C>T	c.(1330-1332)gCc>gTc	p.A444V	ADCK1_uc001xuj.3_Missense_Mutation_p.A376V|ADCK1_uc001xul.3_Missense_Mutation_p.A151V	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	451	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ATTGAGGCCGCCCTGGGCACC	0.627000														13			14		0	0	0.002450	0	0
HMGCL	3155	broad.mit.edu	37	1	24147083	24147083	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:24147083C>T	uc001bib.3	-	2	105	c.61_splice	c.e2-1	p.V21_splice	HMGCL_uc010oec.2_Splice_Site_p.V21_splice|HMGCL_uc001bic.3_Splice_Site|HMGCL_uc009vqs.1_Splice_Site_p.V21_splice	NM_000191	NP_000182	P35914	HMGCL_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	21					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		GAGGTGCTGACCTTTGGTTTA	0.403000														54			23		0	0	0.003954	0	0
COL6A3	1293	broad.mit.edu	37	2	238290009	238290009	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:238290009G>A	uc002vwl.2	-	4	1731	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	COL6A3_uc002vwo.2_Silent_p.I276I|COL6A3_uc010znj.1_Silent_p.I75I|COL6A3_uc002vwq.3_Silent_p.I276I|COL6A3_uc002vwr.3_Silent_p.I75I|COL6A3_uc010znk.1_Silent_p.I482I	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	482	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCCACCTGGATAAGATCCT	0.488000														37			17		0	0	0.004990	0	0
SCN4A	6329	broad.mit.edu	37	17	62050004	62050004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:62050004C>T	uc002jds.1	-	0	275	c.198G>A	c.(196-198)atG>atA	p.M66I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	66					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CTCCGTAGATCATGGGTAGGT	0.602000														6			9		0	0	0.004482	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671360	39671360	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:39671360C>T	uc021wjc.1	+	0	177	c.177C>T	c.(175-177)atC>atT	p.I59I	KCNJ15_uc002ywv.3_Silent_p.I59I|KCNJ15_uc002yww.3_Silent_p.I59I|KCNJ15_uc002ywx.3_Silent_p.I59I	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	59					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CCACAGTTATCGACATGAAGT	0.483000														33			18		0	0	0.004990	0	0
ARRDC4	91947	broad.mit.edu	37	15	98512492	98512492	+	Silent	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:98512492A>G	uc010bom.3	+	4	924	c.765A>G	c.(763-765)cgA>cgG	p.R255R	ARRDC4_uc002bui.4_Silent_p.R168R	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	255					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CCAATGTGCGAGGAAACCACA	0.468000														20			13		0	0	0.002450	0	0
OR8B12	219858	broad.mit.edu	37	11	124413323	124413323	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:124413323G>A	uc010sam.2	-	0	228	c.228C>T	c.(226-228)atC>atT	p.I76I		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;0.0213)		TTTTGGGAGTGATGGTAGTGG	0.428000														14			10		0	0	0.006214	0	0
DRD3	1814	broad.mit.edu	37	3	113850117	113850117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:113850117G>A	uc003ebd.2	-	6	1277	c.854C>T	c.(853-855)tCc>tTc	p.S285F	DRD3_uc010hqn.1_Missense_Mutation_p.S285F|DRD3_uc003ebb.1_Missense_Mutation_p.S285F|DRD3_uc003ebc.1_Missense_Mutation_p.S285F	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	285					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGGACTCAGGGAATTCCGAGT	0.527000														97			53		0	0	0.003610	0	0
PCDH10	57575	broad.mit.edu	37	4	134071348	134071348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:134071348C>T	uc003iha.3	+	0	879	c.53C>T	c.(52-54)tCc>tTc	p.S18F	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Missense_Mutation_p.S18F	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	18					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGAGTCTTTTCCCAGCTTCAC	0.498000														61			34		0	0	0.004878	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829419	146829419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:146829419G>A	uc003weu.2	+	7	1682	c.1166G>A	c.(1165-1167)cGg>cAg	p.R389Q		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	389					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	p.R389Q(2)		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)			GTGCCCGGACGGCTTAACCAG	0.468000										HNSCC(39;0.1)				39			22		0	0	0.002299	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943141	12943141	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:12943141C>T	uc001aun.2	-	1	146	c.75G>A	c.(73-75)ttG>ttA	p.L25L		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	25										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACATGGCCAAAGCTTGGT	0.582000														91			49		0	0	0.003610	0	0
TECTB	6975	broad.mit.edu	37	10	114044382	114044382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:114044382G>A	uc001kzr.1	+	1	166	c.166G>A	c.(166-168)Gga>Aga	p.G56R		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	56	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GCTGGCCCTCGGAGGGCTGTG	0.468000														25			15		0	0	0.003163	0	0
PRCC	5546	broad.mit.edu	37	1	156752097	156752097	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:156752097C>T	uc001fqa.3	+	1	782	c.492C>T	c.(490-492)ccC>ccT	p.P164P		NM_005973	NP_005964	Q92733	PRCC_HUMAN	Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA.	164					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGATGAACCCACAAAGAAGA	0.348000			T	TFE3	papillary renal									29			5		0	0	0.001984	0	0
DBX1	120237	broad.mit.edu	37	11	20177857	20177857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:20177857G>A	uc021qez.1	-	3	1052	c.1049C>T	c.(1048-1050)tCg>tTg	p.S350L	DBX1_uc021qey.1_Missense_Mutation_p.S312L	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	Homo sapiens developing brain homeobox 1 (DBX1), mRNA.	312					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GTGCGCGGGCGAGGGGGGCAG	0.701000														11			13		0	0	0.001368	0	0
MASP1	5648	broad.mit.edu	37	3	186940961	186940961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:186940961C>T	uc003frh.2	-	13	2153	c.1763G>A	c.(1762-1764)gGc>gAc	p.G588D		NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	588	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CTTCCCCCAGCCGCTGACGAT	0.537000														41			16		0	0	0.001216	0	0
AKAP6	9472	broad.mit.edu	37	14	33014688	33014688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:33014688G>A	uc001wrq.3	+	3	999	c.829G>A	c.(829-831)Gta>Ata	p.V277I	AKAP6_uc010aml.3_Missense_Mutation_p.V274I	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	277					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTTACTTACGGTAGCTGCTGA	0.458000														83			37		0	0	0.001951	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665026	6665026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:6665026C>T	uc002mfk.2	-	4	1016	c.634G>A	c.(634-636)Ggg>Agg	p.G212R	TNFSF14_uc002mfj.2_Missense_Mutation_p.G176R	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	212					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ACCTTCTCCCCAGCCTCCAGG	0.632000														12			9		0	0	0.004482	0	0
C9orf50	375759	broad.mit.edu	37	9	132377835	132377835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:132377835G>A	uc004byc.4	-	3	1010	c.808C>T	c.(808-810)Cct>Tct	p.P270S	C9orf50_uc022boo.1_Missense_Mutation_p.P269S	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	Homo sapiens chromosome 9 open reading frame 50 (C9orf50), mRNA.	270										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				ACCCGGAAAGGGCAACGCTGC	0.662000														42			16		0	0	0.006122	0	0
MLIP	90523	broad.mit.edu	37	6	54066921	54066921	+	Missense_Mutation	SNP	C	T	T	rs138048655		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:54066921C>T	uc011dxa.2	+	10	2641	c.2608C>T	c.(2608-2610)Cgc>Tgc	p.R870C	MLIP_uc003pcf.2_Missense_Mutation_p.R859C|MLIP_uc003pcg.4_Missense_Mutation_p.R335C|MLIP_uc003pch.4_Missense_Mutation_p.R179C	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	335						PML body|nuclear envelope	protein binding	p.R335C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TGGAGTAATTCGCCCAGTACC	0.313000														7			24		0	0	0.003954	0	0
PRB2	653247	broad.mit.edu	37	12	11546356	11546356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:11546356C>T	uc010shk.1	-	2	691	c.656G>A	c.(655-657)gGa>gAa	p.G219E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGTGG	0.607000														52			46		0	0	0.003610	0	0
OR2T4	127074	broad.mit.edu	37	1	248525508	248525508	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:248525508T>G	uc001ieh.1	+	0	626	c.626T>G	c.(625-627)tTc>tGc	p.F209C		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	209					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)			ATTCATCATTTCTTCTGTGAA	0.502000														78			41		0	0	0.001951	0	0
MSH4	4438	broad.mit.edu	37	1	76262711	76262711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:76262711C>T	uc001dhd.2	+	0	156	c.41C>T	c.(40-42)cCg>cTg	p.P14L		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	14					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CCTTCTGCCCCGGCGGTTTCC	0.617000								Mismatch excision repair (MMR)						15			13		0	0	0.001855	0	0
RYR3	6263	broad.mit.edu	37	15	33842363	33842363	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:33842363G>A	uc001zhi.3	+	9	888	c.818G>A	c.(817-819)tGg>tAg	p.W273*	RYR3_uc010bar.3_Nonsense_Mutation_p.W273*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	273					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)		CTGCCCAGCTGGAGTGGCAGT	0.448000														14			7		0	0	0.006214	0	0
LRRC30	339291	broad.mit.edu	37	18	7231230	7231230	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:7231230G>A	uc010wzk.2	+	0	94	c.94G>A	c.(94-96)Gat>Aat	p.D32N		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	32										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCCGTGGGACGATGCCCTGCT	0.617000														32			20		0	0	0.001523	0	0
PVRL3	25945	broad.mit.edu	37	3	110852746	110852746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:110852746C>T	uc003dxt.2	+	5	1593	c.1334C>T	c.(1333-1335)cCa>cTa	p.P445L	PVRL3_uc003dxu.2_Intron|PVRL3_uc021xch.1_3'UTR	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	Homo sapiens poliovirus receptor-related 3 (PVRL3), transcript variant 1, mRNA.	445					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AACTACATTCCACCATCAGAT	0.388000														33			23		0	0	0.002299	0	0
GPR78	27201	broad.mit.edu	37	4	8584315	8584315	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:8584315G>A	uc003glk.3	+	1	1219	c.726G>A	c.(724-726)aaG>aaA	p.K242K	GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	242					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.K242N(2)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCACCAGGAAGATTGGCATTG	0.627000														51			22		0	0	0.005443	0	0
IRS4	8471	broad.mit.edu	37	X	107979390	107979390	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:107979390G>A	uc004eoc.2	-	0	218	c.185C>T	c.(184-186)tCc>tTc	p.S62F		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	62						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTCTGACCGGGAGCCAGTGGC	0.652000														4			12		0	0	0.002450	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241517032	241517032	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:241517032C>A	uc002vzi.3	+	10	1901	c.1208C>A	c.(1207-1209)aCc>aAc	p.T403N	RNPEPL1_uc002vzj.3_Missense_Mutation_p.T51N	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA.	403					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CGCATGTACACCATCCCGCTG	0.687000														23			7		1.12685e-05	1.40054e-05	0.004482	1	0
NMS	129521	broad.mit.edu	37	2	101086967	101086967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:101086967C>T	uc002tan.1	+	0	24	c.17C>T	c.(16-18)cCc>cTc	p.P6L		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	6			P -> S (in dbSNP:rs13411940).		neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		p.R5H(1)|p.P6S(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CATCTTCGTCCCCAGTTCCCT	0.547000														74			30		0	0	0.001786	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351209	40351209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:40351209G>A	uc003gva.1	+	3	692	c.676G>A	c.(676-678)Gat>Aat	p.D226N		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	226					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	p.P225P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GCCTTACCCGGATGTCACATT	0.502000														174			101		0	0	0.003610	0	0
KCNH3	23416	broad.mit.edu	37	12	49948157	49948157	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:49948157G>A	uc001ruh.1	+	10	2216	c.1956G>A	c.(1954-1956)cgG>cgA	p.R652R	KCNH3_uc010smj.1_Silent_p.R592R	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	652					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.R652L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGCCCCGGCGGGAGCAGGTGG	0.637000														80			35		0	0	0.005524	0	0
MGAM	8972	broad.mit.edu	37	7	141762467	141762467	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:141762467C>T	uc003vwy.3	+	34	4276	c.4222C>T	c.(4222-4224)Cca>Tca	p.P1408S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1408	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCACAGAATCCAGAGAGGAG	0.433000														16			10		0	0	0.002450	0	0
RERGL	79785	broad.mit.edu	37	12	18234224	18234224	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:18234224C>T	uc001rdq.3	-	5	713	c.519G>A	c.(517-519)ctG>ctA	p.L173L		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	173	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.I172T(1)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TGAAGTTTATCAGGATGTCCT	0.398000														20			16		0	0	0.003163	0	0
SLC17A6	57084	broad.mit.edu	37	11	22396394	22396394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:22396394C>T	uc001mqk.3	+	8	1548	c.1135C>T	c.(1135-1137)Ctt>Ttt	p.L379F		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	379					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CAAGCAGATTCTTTCAACTAC	0.383000														44			44		0	0	0.002222	0	0
SYT12	91683	broad.mit.edu	37	11	66813297	66813298	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:66813297_66813298CC>TT	uc009yrl.3	+	6	1271_1272	c.1041_1042CC>TT	c.(1039-1044)aacccg>aaTTcg	p.P348S	SYT12_uc001oju.3_Missense_Mutation_p.P348S	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	348	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						ATGACCCCAACCCGGTGTTCAA	0.614000														21			18		0	0	0.004672	0	0
PCM1	5108	broad.mit.edu	37	8	17883059	17883059	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:17883059C>T	uc022asj.1	+	36	6080	c.6058C>T	c.(6058-6060)Cta>Tta	p.L2020L	PCM1_uc003wyi.4_Silent_p.L1981L|PCM1_uc011kyh.2_Silent_p.L1973L|PCM1_uc003wyj.4_Silent_p.L1817L|PCM1_uc011kyi.2_Silent_p.L780L|PCM1_uc011kyj.2_Silent_p.L737L|PCM1_uc003wyk.4_Silent_p.L663L|PCM1_uc011kyk.2_Silent_p.L597L	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1981	Interaction with BBS4.				G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AAAGGCAGATCTAAGAAAGAA	0.289000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""									3			5		0	0	0.000602	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577044	158577044	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:158577044G>A	uc010pio.2	+	0	816	c.816G>A	c.(814-816)caG>caA	p.Q272Q		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGAGAGATCAGCTTATTGCCA	0.468000														113			73		0	0	0.003610	0	0
RPTOR	57521	broad.mit.edu	37	17	78919516	78919516	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:78919516C>T	uc002jyt.1	+	25	3880	c.3075C>T	c.(3073-3075)gtC>gtT	p.V1025V	RPTOR_uc010wug.1_Silent_p.V867V	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	1025					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ACCCCGGCGTCCCCTCTGTGG	0.562000														13			45		0	0	0.003610	0	0
C12orf51	283450	broad.mit.edu	37	12	112673402	112673402	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:112673402G>A	uc021reb.1	-	35	5625	c.5229C>T	c.(5227-5229)gtC>gtT	p.V1743V		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TTAAGGAGGGGACAGAGTAGC	0.567000														23			15		0	0	0.003163	0	0
DRD3	1814	broad.mit.edu	37	3	113890711	113890711	+	Silent	SNP	G	A	A	rs143953030		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:113890711G>A	uc003ebd.2	-	2	552	c.129C>T	c.(127-129)atC>atT	p.I43I	DRD3_uc010hqn.1_Silent_p.I43I|DRD3_uc003ebb.1_Silent_p.I43I|DRD3_uc003ebc.1_Silent_p.I43I	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	43					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TGCCGAAGACGATGGCCAGGA	0.607000														24			9		0	0	0.004482	0	0
RAPH1	65059	broad.mit.edu	37	2	204304926	204304926	+	Missense_Mutation	SNP	G	A	A	rs147887694		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:204304926G>A	uc002vad.3	-	13	3212	c.2987C>T	c.(2986-2988)tCg>tTg	p.S996L		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	996					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTGTCCACCGAGGGTCTCTT	0.597000														59			26		0	0	0.007291	0	0
PZP	5858	broad.mit.edu	37	12	9356430	9356430	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:9356430C>T	uc001qvl.3	-	1	230	c.201G>A	c.(199-201)agG>agA	p.R67R	PZP_uc009zgl.3_5'UTR	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCCTGTTTTCCCTGCCAGACT	0.562000														13			25		0	0	0.005443	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19713797	19713797	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:19713797G>A	uc004czm.3	-	4	769	c.453C>T	c.(451-453)ttC>ttT	p.F151F	SH3KBP1_uc004czl.3_Silent_p.F114F	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	151	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GCTCCTTGATGAAGTTGGAAG	0.498000														14			26		0	0	0.004656	0	0
KIF26B	55083	broad.mit.edu	37	1	245530263	245530263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:245530263C>T	uc001ibf.1	+	2	1033	c.593C>T	c.(592-594)gCc>gTc	p.A198V	KIF26B_uc010pyq.1_Missense_Mutation_p.A198V|KIF26B_uc010pyr.2_5'UTR	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	198					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)			AAGCAGGAGGCCATCCAGATG	0.627000														15			7		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179582901	179582901	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179582901C>T	uc021vsy.1	-	82	21325	c.21100G>A	c.(21100-21102)Gga>Aga	p.G7034R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3695R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7961	Ig-like 52.						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)			GCAGGTTCTCCAATGACTGCT	0.408000														16			20		0	0	0.001216	0	0
SLC25A11	8402	broad.mit.edu	37	17	4842173	4842173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:4842173G>A	uc002fzo.2	-	2	603	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	SLC25A11_uc002fzp.2_Missense_Mutation_p.P112S|SLC25A11_uc021tod.1_Missense_Mutation_p.P105S|SLC25A11_uc021toe.1_Missense_Mutation_p.P65S|RNF167_uc002fzs.3_5'Flank|RNF167_uc002fzw.2_5'Flank|RNF167_uc002fzu.3_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 (SLC25A11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	116					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						AAGCCAGGGGGAGTACCATCA	0.607000														8			14		0	0	0.001855	0	0
OMA1	115209	broad.mit.edu	37	1	58946769	58946769	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:58946769C>T	uc001cyy.3	-	8	1531	c.1443G>A	c.(1441-1443)acG>acA	p.T481T	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Intron	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.	481					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	p.T481T(2)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GAAAATGCTTCGTGCTGAGTT	0.333000														30			25		0	0	0.003954	0	0
ZDHHC3	51304	broad.mit.edu	37	3	44986749	44986749	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:44986749G>A	uc003cod.3	-	2	616	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ZDHHC3_uc003cog.3_Silent_p.F114F|ZDHHC3_uc021wws.1_5'UTR	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	Homo sapiens zinc finger, DHHC-type containing 3 (ZDHHC3), transcript variant 2, mRNA.	114						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		AACTCTCGATGAATTCTTTAG	0.517000														80			34		0	0	0.006230	0	0
MGP	4256	broad.mit.edu	37	12	15035186	15035186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:15035186C>T	uc021qvr.1	-	4	402	c.274G>A	c.(274-276)Gag>Aag	p.E92K	MGP_uc001rcn.2_Missense_Mutation_p.E67K	NM_001190839	NP_001177768	P08493	MGP_HUMAN	Homo sapiens matrix Gla protein (MGP), transcript variant 1, mRNA.	67	Gla.				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone	p.A91V(1)|p.E67K(1)		large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CTATTGAGCTCGTGGACAGGC	0.448000														70			94		0	0	0.003610	0	0
C4B	721	broad.mit.edu	37	6	31995183	31995183	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:31995183C>T	uc011dpd.2	+	20	2814	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	C4B_uc011dpe.2_Silent_p.F921F	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	921					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										CCTTCGAATTCCCTGTGGGAG	0.622000														5			10		0	0	0.003163	0	0
VASP	7408	broad.mit.edu	37	19	46027396	46027396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:46027396C>T	uc002pcg.3	+	9	1294	c.952C>T	c.(952-954)Cca>Tca	p.P318S	VASP_uc002pci.3_Missense_Mutation_p.P304S	NM_003370	NP_003361	P50552	VASP_HUMAN	Homo sapiens vasodilator-stimulated phosphoprotein (VASP), mRNA.	318	EVH2.				T cell receptor signaling pathway|axon guidance|cell junction assembly	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	SH3 domain binding|actin binding|profilin binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CACAACCTTGCCAAGGTAGGC	0.577000											OREG0025556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			10		0	0	0.001368	0	0
TET1	80312	broad.mit.edu	37	10	70450796	70450796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:70450796C>T	uc001jok.4	+	11	6141	c.5636C>T	c.(5635-5637)cCc>cTc	p.P1879L		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1879					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGCAGCACTCCCCACTGTACG	0.582000														23			21		0	0	0.001882	0	0
EPHB4	2050	broad.mit.edu	37	7	100416162	100416162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:100416162C>T	uc003uwn.1	-	6	1893	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	EPHB4_uc003uwm.1_Missense_Mutation_p.E375K|EPHB4_uc010lhj.1_Missense_Mutation_p.E468K|EPHB4_uc011kkf.1_Missense_Mutation_p.E468K|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_3'UTR	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	468	Fibronectin type-III 2.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TATTTGACCTCGTAGTCCAGC	0.642000														15			5		0	0	0.001168	0	0
ANAPC4	29945	broad.mit.edu	37	4	25398357	25398357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:25398357C>T	uc003gro.3	+	14	1262	c.1133C>T	c.(1132-1134)cCt>cTt	p.P378L	ANAPC4_uc003grp.3_Missense_Mutation_p.P263L|ANAPC4_uc010ieu.1_Missense_Mutation_p.P147L|ANAPC4_uc010iet.1_Missense_Mutation_p.P158L	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	378					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)				AAATATGAACCTCTTGGACTA	0.333000														34			14		0	0	0.001855	0	0
SCN10A	6336	broad.mit.edu	37	3	38743502	38743502	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:38743502C>T	uc003ciq.3	-	25	4485	c.4485G>A	c.(4483-4485)gtG>gtA	p.V1495V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1495					sensory perception	voltage-gated sodium channel complex		p.V1495V(2)		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)	CATCAGTCTCCACCATCATGG	0.448000														33			18		0	0	0.001216	0	0
ZBED4	9889	broad.mit.edu	37	22	50278162	50278162	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:50278162C>T	uc003bix.2	+	1	1322	c.852C>T	c.(850-852)tcC>tcT	p.S284S	ZBED4_uc021wrx.1_Silent_p.S284S	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	284						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.G283R(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCTGGGTCCAGGAGAAGGT	0.562000														50			18		0	0	0.007413	0	0
DUSP22	56940	broad.mit.edu	37	6	350831	350831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:350831G>A	uc003msx.3	+	7	957	c.518G>A	c.(517-519)gGa>gAa	p.G173E	DUSP22_uc003msy.1_3'UTR	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	173					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P172Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCCGCTCCGGGAATTCTGAAG	0.403000														115			31		0	0	0.003271	0	0
KIAA1009	22832	broad.mit.edu	37	6	84859352	84859352	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:84859352G>T	uc010kbp.3	-	23	3797	c.3700C>A	c.(3700-3702)Ctt>Att	p.L1234I	KIAA1009_uc003pkj.4_Missense_Mutation_p.L1158I|KIAA1009_uc003pki.4_Missense_Mutation_p.L620I	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	1234					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTTTGGCAAAGGAGTTTCTCT	0.373000														14			29		5.77227e-19	7.2674e-19	0.001512	1	0
OR1F1	4992	broad.mit.edu	37	16	3254873	3254873	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:3254873C>T	uc010uwu.2	+	0	627	c.627C>T	c.(625-627)acC>acT	p.T209T		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TCATGATCACCCCATTTCTTT	0.502000														42			25		0	0	0.004656	0	0
VPS18	57617	broad.mit.edu	37	15	41192210	41192210	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:41192210C>T	uc001zne.3	+	3	1533	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	398					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCGAGATGTCTGGCGCACCT	0.627000														61			19		0	0	0.002780	0	0
PIBF1	10464	broad.mit.edu	37	13	73409470	73409470	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:73409470G>C	uc001vjc.3	+	8	1492	c.1187G>C	c.(1186-1188)cGa>cCa	p.R396P	PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Missense_Mutation_p.R396P|PIBF1_uc010aep.3_5'UTR	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	396						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GATCAACTTCGAAATGCCTCT	0.303000														49			28		0	0	0.006320	0	0
KIAA1549	57670	broad.mit.edu	37	7	138545892	138545892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:138545892G>A	uc011kql.2	-	15	5289	c.5240C>T	c.(5239-5241)cCc>cTc	p.P1747L	KIAA1549_uc011kqi.2_Missense_Mutation_p.P531L|KIAA1549_uc011kqk.2_Missense_Mutation_p.P531L|KIAA1549_uc011kqj.2_Missense_Mutation_p.P1747L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1747						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TACACTGCAGGGATTGTTGGC	0.587000			O	BRAF	pilocytic astrocytoma									43			16		0	0	0.007413	0	0
PCSK5	5125	broad.mit.edu	37	9	78842419	78842419	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:78842419G>A	uc004akc.2	+	21	3165	c.2627_splice	c.e21-1	p.G876_splice		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	876	PLAC.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGTTCCCCAGGAGAATATGTT	0.527000														10			3		0	0	0.004672	0	0
SNCA	6622	broad.mit.edu	37	4	90647782	90647783	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:90647782_90647783GG>AA	uc003hsq.3	-	5	678_679	c.419_420CC>TT	c.(418-420)gcc>gTT	p.A140V	SNCA_uc010ikt.3_Missense_Mutation_p.A126V|SNCA_uc003hso.3_Missense_Mutation_p.A112V|SNCA_uc003hsp.3_Missense_Mutation_p.A140V|SNCA_uc003hsr.3_Missense_Mutation_p.A140V	NM_001146054	NP_001139527	P37840	SYUA_HUMAN	Homo sapiens synuclein, alpha (non A4 component of amyloid precursor) (SNCA), transcript variant 2, mRNA.	140					activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	Hsp70 protein binding|alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	ATATTTCTTAGGCTTCAGGTTC	0.401000														41			15		0	0	0.004672	0	0
SCN7A	6332	broad.mit.edu	37	2	167328867	167328867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:167328867C>T	uc002udu.2	-	4	662	c.532G>A	c.(532-534)Gat>Aat	p.D178N	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	178					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D178V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTCCATGGATCACCGAGGAAG	0.353000														12			8		0	0	0.003080	0	0
CSMD3	114788	broad.mit.edu	37	8	113358332	113358332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:113358332C>T	uc003ynu.3	-	40	6595	c.6436G>A	c.(6436-6438)Ggt>Agt	p.G2146S	CSMD3_uc003yns.3_Missense_Mutation_p.G1348S|CSMD3_uc003ynt.3_Missense_Mutation_p.G2106S|CSMD3_uc011lhx.2_Missense_Mutation_p.G2042S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2146	CUB 12.					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						ATACCAAAACCTATGGGTAGA	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				24			44		0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141750661	141750661	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:141750661G>A	uc003vwy.3	+	23	2856	c.2802G>A	c.(2800-2802)ctG>ctA	p.L934L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	934					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTCTAACCTGAAGGTAAAAA	0.428000														41			20		0	0	0.001882	0	0
TMC4	147798	broad.mit.edu	37	19	54675684	54675684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:54675684G>A	uc010erf.3	-	1	398	c.266C>T	c.(265-267)cCt>cTt	p.P89L	TMC4_uc002qdo.3_Missense_Mutation_p.P83L	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	89						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TTCCCGGGAAGGGTGAGGGTC	0.677000														42			15		0	0	0.006122	0	0
LZTR1	8216	broad.mit.edu	37	22	21332232	21332233	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:21332232_21332233CC>TT	uc002ztj.2	+	15	1633_1634	c.1415_1416CC>TT	c.(1414-1416)ccc>cTT	p.P472L	LZTR1_uc002ztk.2_Missense_Mutation_p.P472L|LZTR1_uc002ztl.2_Missense_Mutation_p.P478L|LZTR1_uc011ahx.1_Missense_Mutation_p.P460L|LZTR1_uc002ztn.3_5'Flank	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTCACCTTCCCCCTTGCCTGGA	0.594000														14			9		0	0	0.004672	0	0
RTN2	6253	broad.mit.edu	37	19	45996558	45996558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:45996558G>A	uc002pcb.3	-	4	1123	c.893C>T	c.(892-894)cCt>cTt	p.P298L	RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	298						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TGTCCACAGAGGTGGGGACAA	0.522000														33			23		0	0	0.002299	0	0
CACNA1C	775	broad.mit.edu	37	12	2224674	2224674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:2224674C>T	uc009zdu.1	+	1	647	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	CACNA1C_uc001qkc.2_Missense_Mutation_p.P112S|CACNA1C_uc001qjz.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkd.2_Missense_Mutation_p.P112S|CACNA1C_uc001qke.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkf.2_Missense_Mutation_p.P112S|CACNA1C_uc009zdw.1_Missense_Mutation_p.P112S|CACNA1C_uc001qkg.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkh.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkl.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkj.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkk.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkn.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkm.2_Missense_Mutation_p.P112S|CACNA1C_uc001qko.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkp.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkq.2_Missense_Mutation_p.P112S|CACNA1C_uc001qku.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkr.2_Missense_Mutation_p.P112S|CACNA1C_uc001qks.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkt.2_Missense_Mutation_p.P112S|CACNA1C_uc009zdv.1_Missense_Mutation_p.P112S|CACNA1C_uc001qkb.2_Missense_Mutation_p.P112S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	112					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)	CCTGAAGAACCCCATCCGGAG	0.637000														31			8		0	0	0.006214	0	0
COL22A1	169044	broad.mit.edu	37	8	139715590	139715590	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:139715590C>T	uc003yvd.3	-	31	2965	c.2518_splice	c.e31-1	p.G840_splice	COL22A1_uc011ljo.2_Splice_Site_p.G140_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	840	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGCTTCACCCTAGATGGAG	0.458000										HNSCC(7;0.00092)				46			14		0	0	0.003163	0	0
EPHA7	2045	broad.mit.edu	37	6	93964457	93964457	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:93964457T>G	uc003poe.3	-	13	2681	c.2440A>C	c.(2440-2442)Aca>Cca	p.T814P	EPHA7_uc003pof.3_Missense_Mutation_p.T809P|EPHA7_uc011eac.2_Missense_Mutation_p.T810P	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	814	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTGGCTGATGTGAATTTCCGG	0.383000														13			13		0	0	0.001368	0	0
SYDE2	84144	broad.mit.edu	37	1	85624759	85624759	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:85624759G>C	uc009wcm.3	-	6	3308	c.3259C>G	c.(3259-3261)Cgt>Ggt	p.R1087G		NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	1087					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CCTGCATAACGATTGCTAAGT	0.388000														89			50		0	0	0.003610	0	0
C12orf50	160419	broad.mit.edu	37	12	88390262	88390262	+	Missense_Mutation	SNP	C	T	T	rs146964348	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:88390262C>T	uc001tam.1	-	5	538	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	C12orf50_uc001tan.3_Missense_Mutation_p.E178K	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	124										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTGTAGTATTCCCCTAATCAA	0.313000														19			16		0	0	0.004007	0	0
GPER	2852	broad.mit.edu	37	7	1131498	1131498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:1131498G>A	uc010ksd.1	+	1	523	c.134G>A	c.(133-135)gGg>gAg	p.G45E	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.G45E|GPER_uc003ska.1_Missense_Mutation_p.G45E|GPER_uc003skb.2_Missense_Mutation_p.G45E|GPER_uc021zyo.1_Missense_Mutation_p.G45E	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	Homo sapiens G protein-coupled estrogen receptor 1 (GPER), transcript variant 4, mRNA.	45				Missing (in Ref. 7; AAB02736).		Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CTGGCCAATGGGACAGGTGAG	0.647000														15			8		0	0	0.004482	0	0
FHDC1	85462	broad.mit.edu	37	4	153896077	153896077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:153896077C>T	uc003inf.2	+	10	1709	c.1634C>T	c.(1633-1635)cCc>cTc	p.P545L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	545					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TCCCTGGGTCCCTCTGCTGAC	0.706000														13			5		0	0	0.001168	0	0
MLL	4297	broad.mit.edu	37	11	118373665	118373665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:118373665C>T	uc001pta.3	+	26	7072	c.7049C>T	c.(7048-7050)tCc>tTc	p.S2350F	MLL_uc001ptb.3_Missense_Mutation_p.S2353F	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2350					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.S2350S(1)		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)		AAAATCGGCTCCTTTGCTGAA	0.468000			"""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"""									19			22		0	0	0.005443	0	0
EIF4B	1975	broad.mit.edu	37	12	53427604	53427604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:53427604C>T	uc001sbh.4	+	8	1200	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	EIF4B_uc010snu.2_Missense_Mutation_p.P332S|EIF4B_uc010snv.2_Missense_Mutation_p.P293S	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	332					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CCCCCAAAGACCCAAACTGAA	0.438000														36			17		0	0	0.001523	0	0
BAI3	577	broad.mit.edu	37	6	69944926	69944926	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:69944926C>T	uc010kak.3	+	17	2886	c.2610C>T	c.(2608-2610)atC>atT	p.I870I	BAI3_uc003pev.4_Silent_p.I870I|BAI3_uc011dxx.2_Silent_p.I76I	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	870					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I869T(1)		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)				ATTCACAGATCATGGAATCCT	0.363000														34			34		0	0	0.002445	0	0
GTF3C5	9328	broad.mit.edu	37	9	135919197	135919197	+	Silent	SNP	C	T	T	rs151291681		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:135919197C>T	uc004ccj.4	+	2	793	c.456C>T	c.(454-456)ctC>ctT	p.L152L	GTF3C5_uc010mzz.2_Silent_p.L27L|GTF3C5_uc004cci.4_Silent_p.L152L	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	152						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)		TGCTCATGCTCCGGCCCGAGA	0.587000														43			18		0	0	0.001216	0	0
PRNP	5621	broad.mit.edu	37	20	4680141	4680141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:4680141G>A	uc021wae.1	+	0	275	c.275G>A	c.(274-276)gGa>gAa	p.G92E	PRNP_uc002wkt.1_Intron|PRNP_uc002wku.3_Missense_Mutation_p.G92E|PRNP_uc002wkv.3_Missense_Mutation_p.G92E|PRNP_uc002wkw.3_Missense_Mutation_p.G92E|PRNP_uc002wkx.3_Missense_Mutation_p.G92E|PRNP_uc002wky.3_Missense_Mutation_p.G92E|PRNP_uc010gbe.1_Missense_Mutation_p.G92E	NM_183079	NP_898902	P04156	PRIO_HUMAN	Homo sapiens prion protein (PRNP), transcript variant 2, mRNA.	92	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of T cell receptor signaling pathway|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|protein homooligomerization|response to oxidative stress	Golgi apparatus|anchored to membrane|endoplasmic reticulum|extrinsic to membrane|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	TGGGGTCAAGGAGGTGGCACC	0.642000														18			13		0	0	0.001368	0	0
NBEA	26960	broad.mit.edu	37	13	36125086	36125086	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:36125086C>T	uc021rid.1	+	42	7257	c.6723C>T	c.(6721-6723)ttC>ttT	p.F2241F	NBEA_uc021ric.1_Silent_p.F2238F|NBEA_uc010abi.3_Silent_p.F897F|NBEA_uc010tee.1_Silent_p.F34F|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Silent_p.F34F|NBEA_uc010teg.1_Silent_p.F34F	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2241						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGTTTAATTTCCCTGATCAAG	0.388000														22			6		0	0	0.001984	0	0
CYP17A1	1586	broad.mit.edu	37	10	104597026	104597026	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:104597026G>A	uc001kwg.3	-	0	265	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	31					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GCAGGGACAGGAGGCTCTTGG	0.547000														58			21		0	0	0.002299	0	0
DLGAP1	9229	broad.mit.edu	37	18	3729134	3729134	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:3729134C>T	uc002kmf.3	-	7	2118	c.1591_splice	c.e7+1	p.V531_splice	DLGAP1_uc010wyz.2_Splice_Site_p.V531_splice|DLGAP1_uc010dkn.3_Splice_Site_p.G229_splice|DLGAP1_uc002kme.2_Splice_Site_p.V229_splice|DLGAP1_uc010wyw.2_Splice_Site_p.V237_splice|DLGAP1_uc010wyx.2_Splice_Site_p.G243_splice|DLGAP1_uc010wyy.2_Splice_Site_p.A243_splice|DLGAP1_uc002kmg.3_Splice_Site_p.V229_splice|DLGAP1_uc002kmk.2_Splice_Site_p.G531_splice	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	531					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.?(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGCGCACTCACCCGTGCTGCT	0.637000														11			8		0	0	0.006214	0	0
PSMB8	5696	broad.mit.edu	37	6	32810460	32810461	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:32810460_32810461GG>TA	uc003oce.3	-	2	438_439	c.395_396CC>TA	c.(394-396)gcc>gTA	p.A132V	PSMB8_uc003ocf.3_Missense_Mutation_p.A128V|PSMB8_uc011dqh.2_3'UTR|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank	NM_148919	NP_683720	P28062	PSB8_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA.	132					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						TGCATTCCTTGGCCAGCAGGCG	0.520000														7			10		0	0	0.004672	0	0
RSL1D1	26156	broad.mit.edu	37	16	11931870	11931870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:11931870G>A	uc002dbp.1	-	8	1320	c.1247C>T	c.(1246-1248)cCa>cTa	p.P416L	RSL1D1_uc010buv.1_Missense_Mutation_p.P415L|RSL1D1_uc010uyw.1_Missense_Mutation_p.P196L	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	416					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						tgcagcttttggggtctcaga	0.473000														176			95		0	0	0.003610	0	0
HTR5A	3361	broad.mit.edu	37	7	154876129	154876129	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:154876129C>T	uc003wlu.1	+	1	1070	c.1006C>T	c.(1006-1008)Ctg>Ttg	p.L336L		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	336						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)		CTTTAACCCCCTGATCTATAC	0.488000														72			32		0	0	0.003755	0	0
ME1	4199	broad.mit.edu	37	6	84025120	84025120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:84025120C>T	uc003pjy.3	-	5	878	c.613G>A	c.(613-615)Gat>Aat	p.D205N	ME1_uc011dzb.2_Missense_Mutation_p.D130N|ME1_uc011dzc.2_Missense_Mutation_p.D39N	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	205					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TAGAGTGGATCTTTAAGTAAC	0.333000														14			23		0	0	0.003330	0	0
NCAM2	4685	broad.mit.edu	37	21	22881216	22881216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:22881216G>A	uc002yld.2	+	15	2371	c.2122G>A	c.(2122-2124)Gga>Aga	p.G708R	NCAM2_uc011acb.2_Missense_Mutation_p.G566R	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	708					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AATTGGCCTGGGAGTTGCTGC	0.378000														20			18		0	0	0.007413	0	0
NAA11	84779	broad.mit.edu	37	4	80246948	80246948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:80246948C>T	uc003hlt.4	-	0	224	c.84G>A	c.(82-84)atG>atA	p.M28I	NAA11_uc021xpl.1_Missense_Mutation_p.M28I	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	28	Interaction with NAA15 (By similarity).|N-acetyltransferase.					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						AATAGTATTTCATCTGGTAGT	0.493000														31			19		0	0	0.001523	0	0
CTCF	10664	broad.mit.edu	37	16	67650756	67650756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:67650756C>T	uc002etl.3	+	4	1505	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	CTCF_uc010cek.3_Missense_Mutation_p.S26F	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	354					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.S354F(2)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TTCAAGTGTTCCATGTGCGAT	0.453000														106			57		0	0	0.003610	0	0
TCR-alpha	0	broad.mit.edu	37	14	22337432	22337432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:22337432G>A	uc021rpg.1	+	1	286	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85.																		AAATGTGGGCGAAAAGAAAGA	0.428000														97			65		0	0	0.003610	0	0
EPHA3	2042	broad.mit.edu	37	3	89480431	89480431	+	Silent	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:89480431T>C	uc003dqy.3	+	12	2493	c.2268T>C	c.(2266-2268)agT>agC	p.S756S	EPHA3_uc021xbf.1_Silent_p.S756S	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	756	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			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)		TGATCAACAGTAACTTGGTGT	0.478000										TSP Lung(6;0.00050)				22			13		0	0	0.004007	0	0
JAK1	3716	broad.mit.edu	37	1	65301108	65301109	+	Silent	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:65301108_65301109GG>AA	uc001dbu.1	-	23	3588_3589	c.3339_3340CC>TT	c.(3337-3342)cgcctg>cgTTtg	p.1113_1114RL>RL	JAK1_uc009wam.1_Silent_p.1113_1114RL>RL|JAK1_uc009wal.1_Silent_p.290_291RL>RL	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	1113	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGGCACGGCAGGCGTTTTCCTT	0.421000			Mis		ALL									67			19		0	0	0.004672	0	0
NCOA5	57727	broad.mit.edu	37	20	44692186	44692186	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:44692186G>A	uc002xrd.3	-	5	1491	c.963C>T	c.(961-963)atC>atT	p.I321I	NCOA5_uc002xrc.3_Silent_p.I209I|NCOA5_uc002xre.3_Silent_p.I321I	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTTCCTGCAGGATGGCTTCAT	0.582000														26			17		0	0	0.004990	0	0
FAM57B	83723	broad.mit.edu	37	16	30040777	30040777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:30040777G>A	uc002dvt.3	-	1	523	c.185C>T	c.(184-186)tCc>tTc	p.S62F	BOLA2_uc010bzb.1_Intron	NM_031478	NP_113666	Q71RH2	FA57B_HUMAN	Homo sapiens family with sequence similarity 57, member B (FAM57B), mRNA.	62	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GTGCTTGCAGGAGGTGGAGAC	0.607000														11			9		0	0	0.006214	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953375	8953375	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:8953375G>A	uc002mko.2	+	0	107	c.21G>A	c.(19-21)agG>agA	p.R7R		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA.	7	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GTTCACAGAGGAAGCAACGTG	0.423000														16			6		0	0	0.004482	0	0
IQCH	64799	broad.mit.edu	37	15	67664852	67664852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:67664852G>A	uc002aqo.2	+	8	1254	c.1157G>A	c.(1156-1158)aGa>aAa	p.R386K	IQCH_uc010ujv.2_Missense_Mutation_p.R205K|IQCH_uc002aqn.2_Missense_Mutation_p.R213K|IQCH_uc002aqp.2_Missense_Mutation_p.R138K|IQCH_uc002aqq.2_Missense_Mutation_p.R134K	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	386	IQ.									NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TACAAAGCAAGAAAATTCTTC	0.443000														48			23		0	0	0.002780	0	0
FAM5C	339479	broad.mit.edu	37	1	190067482	190067482	+	Missense_Mutation	SNP	C	T	T	rs149389696		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:190067482C>T	uc001gse.1	-	7	2199	c.1967G>A	c.(1966-1968)cGg>cAg	p.R656Q	FAM5C_uc010pot.1_Missense_Mutation_p.R554Q	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	656						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCCCAGGTTCCGGGAAGGGTC	0.448000														55			30		0	0	0.001786	0	0
VPS39	23339	broad.mit.edu	37	15	42458375	42458375	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:42458375G>A	uc001zpd.3	-	16	1846	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F	VPS39_uc001zpc.3_Silent_p.F554F|VPS39_uc001zpb.3_5'UTR	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	565					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CATCTTCTGGGAAGTCTCTCA	0.498000														38			22		0	0	0.003954	0	0
DMBT1	1755	broad.mit.edu	37	10	124377706	124377706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:124377706G>A	uc001lgk.1	+	37	4784	c.4678G>A	c.(4678-4680)Gga>Aga	p.G1560R	DMBT1_uc001lgl.1_Missense_Mutation_p.G1550R|DMBT1_uc001lgm.1_Missense_Mutation_p.G932R|DMBT1_uc021qaf.1_Missense_Mutation_p.G1560R|DMBT1_uc021qag.1_Missense_Mutation_p.G1550R|DMBT1_uc021qah.1_Missense_Mutation_p.G932R|DMBT1_uc009xzz.1_Missense_Mutation_p.G1560R|DMBT1_uc010qtx.1_Missense_Mutation_p.G411R|DMBT1_uc009yab.1_Missense_Mutation_p.G263R|DMBT1_uc009yac.1_5'Flank	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1560	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTCAGCCCCAGGAAATGCCCA	0.612000														118			65		0	0	0.003610	0	0
GAD1	2571	broad.mit.edu	37	2	171678638	171678638	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:171678638A>G	uc002ugi.3	+	2	546	c.124A>G	c.(124-126)Aaa>Gaa	p.K42E	GAD1_uc002ugh.3_Missense_Mutation_p.K42E	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	42					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATGCACCAGAAAACTGGGGCT	0.647000														7			6		0	0	0.003080	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916114	97916114	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:97916114A>G	uc001klp.3	+	5	892	c.35A>G	c.(34-36)gAa>gGa	p.E12G	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Missense_Mutation_p.E12G|ZNF518A_uc001klr.3_Missense_Mutation_p.E12G	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTTTGTGATGAAAAACAAACT	0.289000														38			17		0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9048354	9048354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:9048354C>T	uc002mkp.3	-	4	33481	c.33277G>A	c.(33277-33279)Ggg>Agg	p.G11093R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11095	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						CCTGATACCCCAGGTGAAACA	0.502000														25			13		0	0	0.001368	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548594	20548594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:20548594C>T	uc002dhj.4	-	14	1930	c.1720G>A	c.(1720-1722)Gcc>Acc	p.A574T	ACSM2B_uc002dhk.4_Missense_Mutation_p.A574T	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	574					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGCGCACGGGCTTTTCCGGAC	0.463000														134			64		0	0	0.003610	0	0
BCL2A1	597	broad.mit.edu	37	15	80263401	80263402	+	Missense_Mutation	DNP	GG	TA	TA	rs147300718		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:80263401_80263402GG>TA	uc002bfc.4	-	0	242_243	c.60_61CC>TA	c.(58-63)gtccta>gtTAta	p.L21I	BCL2A1_uc002bfd.4_Missense_Mutation_p.L21I	NM_004049	NP_004040	Q16548	B2LA1_HUMAN	Homo sapiens BCL2-related protein A1 (BCL2A1), transcript variant 1, mRNA.	21					anti-apoptosis|apoptosis	cytoplasm	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						GGTATCTGTAGGACGCACTGCA	0.465000														38			7		0	0	0.004672	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822444	43822444	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:43822444C>T	uc010skx.2	-	24	3648	c.3648G>A	c.(3646-3648)tgG>tgA	p.W1216*	ADAMTS20_uc001rno.1_Nonsense_Mutation_p.W334*|ADAMTS20_uc001rnp.1_Nonsense_Mutation_p.W370*	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1216	TSP type-1 8.					proteinaceous extracellular matrix	zinc ion binding			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)		TTACGGGTGACCAATCCCCTG	0.333000														10			7		0	0	0.001984	0	0
ACOXL	55289	broad.mit.edu	37	2	111556243	111556243	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:111556243C>T	uc010yxk.1	+	5	626	c.402C>T	c.(400-402)gcC>gcT	p.A134A	ACOXL_uc021vmm.1_5'Flank|ACOXL_uc021vmn.1_5'Flank	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	134					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TTGGAAATGCCATGTACGGGA	0.413000														38			22		0	0	0.002780	0	0
KIF2B	84643	broad.mit.edu	37	17	51901259	51901259	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:51901259G>A	uc002iua.2	+	0	1021	c.865G>A	c.(865-867)Gag>Aag	p.E289K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	289	Kinesin-motor.				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			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						GCCACTGGTGGAGTCCATCTT	0.577000														22			26		0	0	0.004656	0	0
DQ586822	0	broad.mit.edu	37	15	84945439	84945439	+	RNA	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:84945439C>T	uc002bke.2	-	0		c.1811G>A								Homo sapiens cDNA FLJ34196 fis, clone FCBBF3019437.																		TAGCAGTGGCCCTGGATTCAA	0.502000														23			11		0	0	0.000978	0	0
DAOA	267012	broad.mit.edu	37	13	106124916	106124916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:106124916G>A	uc001vqb.3	+	2	437	c.163G>A	c.(163-165)Gta>Ata	p.V55I	DAOA-AS1_uc021rmh.1_Intron|DAOA_uc010tjf.2_5'UTR|DAOA_uc001vpz.3_Non-coding_Transcript|DAOA_uc010agd.3_Non-coding_Transcript|DAOA_uc010tjg.2_5'UTR|DAOA_uc001vqc.3_Non-coding_Transcript|DAOA_uc001vqe.3_Non-coding_Transcript	NM_172370	NP_001155286	P59103	DAOA_HUMAN	Homo sapiens D-amino acid oxidase activator (DAOA), transcript variant 1, mRNA.	55						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AAGAGAGACGGTAACAAGGAA	0.388000														10			8		0	0	0.004482	0	0
GPR77	27202	broad.mit.edu	37	19	47844877	47844877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:47844877C>T	uc002pgk.1	+	1	892	c.821C>T	c.(820-822)cCc>cTc	p.P274L	GPR77_uc010ela.1_Missense_Mutation_p.P274L|GPR77_uc021uwn.1_Missense_Mutation_p.P274L	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	274					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		CGGGCTGAACCCCTCATCGTG	0.647000														29			13		0	0	0.001855	0	0
GABPB2	126626	broad.mit.edu	37	1	151090593	151090593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:151090593C>T	uc001ewr.2	+	8	1539	c.1208C>T	c.(1207-1209)aCc>aTc	p.T403I	GABPB2_uc001ewt.2_3'UTR	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	403					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GTTGATTTCACCATGGTTGAA	0.522000														21			21		0	0	0.001882	0	0
UNC13D	201294	broad.mit.edu	37	17	73839597	73839598	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:73839597_73839598GG>AA	uc002jpp.3	-	1	500_501	c.120_121CC>TT	c.(118-123)atccag>atTTag	p.Q41*	UNC13D_uc010wsk.1_Nonsense_Mutation_p.Q41*|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_5'Flank	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	41					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GATGGAGGCTGGATCTGCAGAG	0.639000									Familial Hemophagocytic Lymphohistiocytosis					15			10		0	0	0.004672	0	0
EML3	256364	broad.mit.edu	37	11	62378444	62378444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:62378444G>A	uc010rly.1	-	3	781	c.473C>T	c.(472-474)tCc>tTc	p.S158F	EML3_uc001ntr.1_Missense_Mutation_p.S130F|EML3_uc001nts.1_Missense_Mutation_p.S130F|EML3_uc001ntt.1_Intron|EML3_uc001ntu.1_Missense_Mutation_p.S158F|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.3_5'Flank			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	158	Poly-Ser.					cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGATGAGGAGGAGGAAGAATT	0.612000														17			10		0	0	0.000673	0	0
APOL5	80831	broad.mit.edu	37	22	36123135	36123135	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:36123135G>A	uc003aof.3	+	2	1020	c.1020G>A	c.(1018-1020)ctG>ctA	p.L340L		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	340					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGCAGGAGCTGGACCGGCTCA	0.627000														16			17		0	0	0.004007	0	0
SCAF1	58506	broad.mit.edu	37	19	50150025	50150026	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:50150025_50150026CC>TT	uc002poq.3	+	5	540_541	c.416_417CC>TT	c.(415-417)ccc>cTT	p.P139L		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	139					RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GACAGAGATCCCATCCCTCTGC	0.663000														5			8		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179440199	179440199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179440199G>A	uc021vsy.1	-	274	63181	c.62956C>T	c.(62956-62958)Cct>Tct	p.P20986S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P14681S|TTN_uc021vta.1_Missense_Mutation_p.P14614S|TTN_uc021vtb.1_Missense_Mutation_p.P14489S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21913	Ig-like 112.						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)			TTGGGCTTAGGCCATGCCAGG	0.507000														119			63		0	0	0.003610	0	0
KIAA1704	55425	broad.mit.edu	37	13	45594490	45594490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:45594490C>T	uc001uzq.3	+	6	834	c.731C>T	c.(730-732)tCc>tTc	p.S244F	KIAA1704_uc010tfo.1_Non-coding_Transcript|KIAA1704_uc001uzr.1_Missense_Mutation_p.S244F|KIAA1704_uc001uzs.3_Missense_Mutation_p.S121F|KIAA1704_uc001uzt.3_Missense_Mutation_p.S95F	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	Homo sapiens KIAA1704 (KIAA1704), mRNA.	244										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		AGGAAGTCATCCAGTAAGAAA	0.299000														54			35		0	0	0.002222	0	0
HAO2	51179	broad.mit.edu	37	1	119925619	119925619	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:119925619C>T	uc001ehr.1	+	2	345	c.213C>T	c.(211-213)gcC>gcT	p.A71A	HAO2_uc001ehq.1_Silent_p.A71A	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	71	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		AGATCAGTGCCCCTATTTGTA	0.557000														28			17		0	0	0.004990	0	0
CCDC61	729440	broad.mit.edu	37	19	46511477	46511477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:46511477G>A	uc002pdw.3	+	5	640	c.640G>A	c.(640-642)Gag>Aag	p.E214K	CCDC61_uc021uwd.1_Missense_Mutation_p.E157K	NM_001080402	NP_001073871			Homo sapiens coiled-coil domain containing 61 (CCDC61), mRNA.											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		GTCACTGAAGGAGGAACTGGG	0.617000														11			6		0	0	0.004482	0	0
GPSM2	29899	broad.mit.edu	37	1	109472379	109472379	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:109472379G>A	uc010ovc.2	+	14	2368	c.1872G>A	c.(1870-1872)ccG>ccA	p.P624P	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Silent_p.P624P|GPSM2_uc010ove.1_Silent_p.P624P|CLCC1_uc001dwg.1_3'UTR|CLCC1_uc001dwf.1_3'UTR	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	624					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CAAAGGGTCCGACAGTACCAG	0.413000														161			106		0	0	0.003610	0	0
F13B	2165	broad.mit.edu	37	1	197032154	197032154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:197032154C>T	uc001gtt.1	-	1	142	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	33	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GGCAATTCTTCCATTTTCCAC	0.318000														106			61		0	0	0.003610	0	0
CYP4F11	57834	broad.mit.edu	37	19	16032847	16032847	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:16032847C>T	uc002nbu.2	-	9	1151	c.1115_splice	c.e9+1	p.W372_splice	CYP4F11_uc010eab.1_Splice_Site_p.W372_splice|CYP4F11_uc002nbt.2_Splice_Site_p.W372_splice	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	372					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTGCACTCACCATTCAATCTC	0.498000														35			8		0	0	0.004482	0	0
OR1S2	219958	broad.mit.edu	37	11	57971029	57971029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:57971029C>T	uc010rkb.2	-	0	625	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AACACAAGCTCATTGATCATT	0.443000														46			23		0	0	0.002780	0	0
APC2	10297	broad.mit.edu	37	19	1465626	1465626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:1465626G>A	uc002lsr.1	+	14	2534	c.2326G>A	c.(2326-2328)Ggc>Agc	p.G776S	APC2_uc002lss.1_Missense_Mutation_p.G358S|APC2_uc002lst.1_Missense_Mutation_p.G776S|APC2_uc002lsu.1_Missense_Mutation_p.G775S|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	776					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCCGATTCGGGCTGCTTTGA	0.716000														6			4		0	0	0.001984	0	0
PTCH2	8643	broad.mit.edu	37	1	45293690	45293690	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:45293690G>A	uc010olf.2	-	13	1895	c.1883C>T	c.(1882-1884)tCt>tTt	p.S628F	PTCH2_uc021omv.1_Missense_Mutation_p.S628F|PTCH2_uc010olg.2_Missense_Mutation_p.S326F	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	628					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CAGTGGGTCAGAAGGTGGGGG	0.622000									Basal Cell Nevus syndrome					26			24		0	0	0.002299	0	0
RYR2	6262	broad.mit.edu	37	1	237758937	237758937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:237758937G>A	uc001hyl.1	+	33	4696	c.4576G>A	c.(4576-4578)Gaa>Aaa	p.E1526K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1526	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATGGCAAGGAACTGAGCAC	0.498000														11			8		0	0	0.000978	0	0
KIF26B	55083	broad.mit.edu	37	1	245704184	245704184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:245704184C>T	uc001ibf.1	+	4	1722	c.1282C>T	c.(1282-1284)Cct>Tct	p.P428S	KIF26B_uc010pyq.1_Missense_Mutation_p.P428S|KIF26B_uc001ibg.1_Missense_Mutation_p.P46S	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	428					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)			GCAGACCTCCCCTCCCCCAGC	0.592000														32			17		0	0	0.004007	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768148	77768148	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:77768148C>G	uc003yau.2	+	9	9378	c.8991C>G	c.(8989-8991)atC>atG	p.I2997M	ZFHX4_uc003yaw.1_Missense_Mutation_p.I2952M	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2952						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G2997R(2)|p.C2996C(1)		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)			CTTTCATGATCAATCAAGGCG	0.473000										HNSCC(33;0.089)				23			6		0	0	0.003080	0	0
SERPINB9	5272	broad.mit.edu	37	6	2890648	2890648	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:2890648G>A	uc003mug.3	-	6	1001	c.880C>T	c.(880-882)Caa>Taa	p.Q294*	AY927512_uc003mue.3_Intron|SERPINB9_uc003muf.3_Nonsense_Mutation_p.Q97*	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	294					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TTGCCCTGTTGGAAGGCATCA	0.463000														88			28		0	0	0.001512	0	0
POFUT1	23509	broad.mit.edu	37	20	30816216	30816216	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:30816216C>T	uc002wxp.3	+	4	742	c.693C>T	c.(691-693)gtC>gtT	p.V231V	POFUT1_uc010ztt.2_Silent_p.V123V|POFUT1_uc010ztu.2_Silent_p.V20V	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA.	231					Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCACCTTGTCCGGCCCTATG	0.552000														22			11		0	0	0.000978	0	0
XPO4	64328	broad.mit.edu	37	13	21382643	21382643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:21382643G>A	uc001unq.4	-	11	1607	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	524					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AACAGTGCTTGAACCCGGTGA	0.358000														29			12		0	0	0.001368	0	0
TLE6	79816	broad.mit.edu	37	19	2987014	2987015	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:2987014_2987015CC>TT	uc002lwt.2	+	6	428_429	c.319_320CC>TT	c.(319-321)ccc>TTc	p.P107F	TLE6_uc002lwu.2_5'UTR	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	0					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		CCCTGGGACGCCCCAGCAGGTG	0.634000														6			9		0	0	0.004672	0	0
TAOK2	9344	broad.mit.edu	37	16	29998361	29998361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:29998361C>T	uc010bzm.2	+	14	2824	c.2789C>T	c.(2788-2790)tCc>tTc	p.S930F	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.S810F|TAOK2_uc002dva.2_Missense_Mutation_p.S923F|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.S750F	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	923					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGTTGTCCTTCCCCCGACATC	0.662000														57			32		0	0	0.003755	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049943	36049943	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:36049943G>A	uc001uvc.3	-	1	915	c.333C>T	c.(331-333)tcC>tcT	p.S111S	NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA.	111					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CCACCCAGAGGGACATGCTCC	0.577000														24			12		0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179481736	179481736	+	Silent	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179481736T>C	uc021vsy.1	-	204	40401	c.40176A>G	c.(40174-40176)gaA>gaG	p.E13392E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.E7087E|TTN_uc021vta.1_Silent_p.E7020E|TTN_uc021vtb.1_Silent_p.E6895E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14319	Ig-like 90.						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)			CCATTGTTGGTTCAACTACAA	0.393000														85			37		0	0	0.006230	0	0
PCLO	27445	broad.mit.edu	37	7	82474693	82474694	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:82474693_82474694CC>TT	uc003uhx.2	-	12	14228_14229	c.13939_13940GG>AA	c.(13939-13941)gga>AAa	p.G4647K	PCLO_uc003uhv.2_Missense_Mutation_p.G4647K|PCLO_uc003uht.1_Missense_Mutation_p.G98K|PCLO_uc003uhu.1_Missense_Mutation_p.G77K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4535	C2 1.				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						AACATGAGATCCTTTTTCAACA	0.535000														20			9		0	0	0.004672	0	0
OR2M3	127062	broad.mit.edu	37	1	248366576	248366576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:248366576G>A	uc010pzg.2	+	0	207	c.207G>A	c.(205-207)atG>atA	p.M69I		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L68L(1)		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)			TGTCCCTCATGGACCTCATGC	0.532000														156			66		0	0	0.003610	0	0
UNC13A	23025	broad.mit.edu	37	19	17783268	17783268	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:17783268C>T	uc021uqk.1	-	3	231	c.189G>A	c.(187-189)gaG>gaA	p.E63E		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	63	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TATTCCACACCTCCACCGTCA	0.597000														8			14		0	0	0.004007	0	0
LRP1B	53353	broad.mit.edu	37	2	141625795	141625795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:141625795G>A	uc002tvj.1	-	25	5179	c.4207C>T	c.(4207-4209)Cgc>Tgc	p.R1403C	LRP1B_uc010fnl.1_Missense_Mutation_p.R585C	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1403					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GATTCAATGCGAGGAAAATTT	0.353000										TSP Lung(27;0.18)				26			20		0	0	0.007413	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033135	52033135	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:52033135G>A	uc002pwy.3	-	4	1063	c.855C>T	c.(853-855)agC>agT	p.S285S	SIGLEC6_uc002pwz.3_Silent_p.S269S|SIGLEC6_uc010ydb.2_Silent_p.S233S|SIGLEC6_uc010ydc.2_Silent_p.S296S|SIGLEC6_uc002pxa.3_Silent_p.S285S|SIGLEC6_uc010eoz.2_Silent_p.S274S|SIGLEC6_uc010epa.2_Silent_p.S274S|SIGLEC6_uc010epb.2_Silent_p.S238S	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	285	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CCTGGAACCAGCTCAGGTGTG	0.612000														34			25		0	0	0.004656	0	0
CLCN7	1186	broad.mit.edu	37	16	1505732	1505732	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:1505732G>A	uc002clv.2	-	11	1091	c.981_splice	c.e11+1	p.I327_splice	CLCN7_uc002clw.2_Splice_Site_p.I303_splice	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	327						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AGGAACTTACGATCCTCCAGG	0.637000														33			13		0	0	0.003163	0	0
DPY19L4	286148	broad.mit.edu	37	8	95802125	95802125	+	Missense_Mutation	SNP	C	T	T	rs140198354		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:95802125C>T	uc003ygx.2	+	18	2283	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	720						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ACTGTGATATCCTTCCAGTCT	0.343000														181			87		0	0	0.003610	0	0
RFT1	91869	broad.mit.edu	37	3	53133502	53133503	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:53133502_53133503CC>TT	uc003dgj.3	-	11	1157	c.1103_splice	c.e11-1	p.G368_splice		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	368					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CAAAACAGGACCTACAAGGAAA	0.500000														18			7		0	0	0.004672	0	0
EMR1	2015	broad.mit.edu	37	19	6926573	6926573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:6926573C>T	uc002mfw.3	+	15	2221	c.2183C>T	c.(2182-2184)tCt>tTt	p.S728F	EMR1_uc010dvc.3_Missense_Mutation_p.S663F|EMR1_uc010dvb.3_Missense_Mutation_p.S676F|EMR1_uc010xji.2_Missense_Mutation_p.S587F|EMR1_uc010xjj.2_Missense_Mutation_p.S551F	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	728					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)					GTGGTGATCTCTGCCAGTGTG	0.512000														20			27		0	0	0.001512	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139777	55139777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:55139777G>A	uc003han.4	+	9	1769	c.1438G>A	c.(1438-1440)Gac>Aac	p.D480N	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.D374N|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	480	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.D480E(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCACTCCCGAGACAGGAGTAC	0.498000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				34			23		0	0	0.004656	0	0
FUT2	2524	broad.mit.edu	37	19	49206302	49206302	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:49206302A>T	uc002pke.4	+	1	200	c.89A>T	c.(88-90)cAg>cTg	p.Q30L	FUT2_uc010emc.3_Missense_Mutation_p.Q30L|FUT2_uc021uwx.1_Missense_Mutation_p.Q30L	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA.	30					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CACGTTCAGCAGCGGCTAGCG	0.537000														96			39		0	0	0.006230	0	0
SEPHS2	22928	broad.mit.edu	37	16	30455791	30455791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:30455791G>A	uc021tgl.1	-	0	1434	c.1258C>T	c.(1258-1260)Ccg>Tcg	p.P420S	SEPHS2_uc002dyh.1_Missense_Mutation_p.P363S	NM_012248		Q99611	SPS2_HUMAN	Homo sapiens selenophosphate synthetase 2 (SEPHS2), mRNA.	420					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ATAACTCGCGGCTTGTCAATG	0.522000														28			29		0	0	0.001512	0	0
TMEM246	84302	broad.mit.edu	37	9	104238586	104238586	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:104238586C>T	uc004bbm.3	-	1	1111	c.789G>A	c.(787-789)ctG>ctA	p.L263L	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.L263L	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	263						integral to membrane											CAACCCATTCCAGGATCCGCA	0.537000														37			29		0	0	0.007291	0	0
OR2A2	442361	broad.mit.edu	37	7	143807181	143807181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:143807181G>A	uc011ktz.2	+	0	506	c.506G>A	c.(505-507)gGg>gAg	p.G169E		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCCTTCTGTGGGCCCCGGGAT	0.527000														42			31		0	0	0.001512	0	0
EVI5L	115704	broad.mit.edu	37	19	7911451	7911451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:7911451C>T	uc010xjz.2	+	0	70	c.23C>T	c.(22-24)cCc>cTc	p.P8L	EVI5L_uc002min.3_Missense_Mutation_p.P8L	NM_001159944	NP_001153416	Q96CN4	EVI5L_HUMAN	Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.	8						intracellular	Rab GTPase activator activity|protein binding			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						ACTCTGAGCCCCGACTCCTCA	0.657000														8			6		0	0	0.001984	0	0
DIDO1	11083	broad.mit.edu	37	20	61513394	61513394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:61513394G>A	uc002ydr.2	-	15	4226	c.3914C>T	c.(3913-3915)tCg>tTg	p.S1305L	DIDO1_uc002yds.2_Missense_Mutation_p.S1305L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1305					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGAAGCAGACGAAGCGGTGGA	0.597000														79			34		0	0	0.005524	0	0
ELL	8178	broad.mit.edu	37	19	18556038	18556038	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:18556038T>C	uc002njh.3	-	10	1817	c.1745A>G	c.(1744-1746)aAa>aGa	p.K582R	ELL_uc010ebq.3_Missense_Mutation_p.K525R|ELL_uc002njg.3_Missense_Mutation_p.K449R	NM_006532	NP_006523	P55199	ELL_HUMAN	Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.	582					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		ACTCACCTTTTTGATTTTTCG	0.517000			T	MLL	AL									53			76		0	0	0.003610	0	0
ANKZF1	55139	broad.mit.edu	37	2	220097914	220097914	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:220097914G>A	uc002vkg.3	+	6	845	c.671_splice	c.e6+1	p.G224_splice	ANKZF1_uc010zkv.1_Splice_Site_p.G168_splice|ANKZF1_uc010zkw.1_Splice_Site_p.G14_splice|ANKZF1_uc002vkh.3_Splice_Site_p.G14_splice|ANKZF1_uc002vki.3_Splice_Site_p.G224_splice|ANKZF1_uc002vkj.1_Splice_Site_p.G212_splice	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA.	224						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TATTTCAAGGGTGAGAGGGTG	0.547000														71			36		0	0	0.003755	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19285377	19285377	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:19285377T>C	uc001reb.3	+	2	328	c.220T>C	c.(220-222)Tat>Cat	p.Y74H	PLEKHA5_uc010sie.2_Missense_Mutation_p.Y74H|PLEKHA5_uc001rea.3_Missense_Mutation_p.Y74H|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc001rdz.4_Missense_Mutation_p.Y74H	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	74	WW 2.						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)					TGCAAGATACTATATAAAGTG	0.313000														40			40		0	0	0.001951	0	0
TKTL2	84076	broad.mit.edu	37	4	164393683	164393683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:164393683C>T	uc003iqp.4	-	0	1365	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	402						cytoplasm	metal ion binding|transketolase activity	p.F401F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CGGAGCTGATCGAATGCTCTA	0.488000														21			12		0	0	0.000978	0	0
STEAP1	26872	broad.mit.edu	37	7	89791250	89791250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:89791250C>T	uc003ujx.3	+	3	820	c.620C>T	c.(619-621)gCc>gTc	p.A207V	STEAP1_uc010lem.3_Missense_Mutation_p.A207V	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA.	207	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					AAAGAAGATGCCTGGATTGAG	0.393000														33			10		0	0	0.003954	0	0
TAAR2	9287	broad.mit.edu	37	6	132938531	132938531	+	Silent	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:132938531A>G	uc003qdl.1	-	1	814	c.814T>C	c.(814-816)Tta>Cta	p.L272L	TAAR2_uc010kfr.1_Silent_p.L227L	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	272						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CAACATAATAAGAAAACTCCT	0.343000														7			8		0	0	0.000978	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74506976	74506976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:74506976C>T	uc001dfy.4	-	6	1831	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	547										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGGCTTTTCTCTTTTAGGACA	0.308000														46			34		0	0	0.002836	0	0
POU2F3	25833	broad.mit.edu	37	11	120187960	120187960	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:120187960G>A	uc021qrk.1	+	11	1198	c.1164G>A	c.(1162-1164)ggG>ggA	p.G388G	POU2F3_uc001pxc.3_Silent_p.G386G|POU2F3_uc010rzk.2_Silent_p.G340G|POU2F3_uc010rzl.2_Silent_p.G316G|POU2F3_uc001pxe.1_Silent_p.G171G	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	386	Ser-rich.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GTTCCCCTGGGAACAACAGCA	0.547000														27			16		0	0	0.006122	0	0
TMEM168	64418	broad.mit.edu	37	7	112423923	112423923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:112423923G>A	uc003vgn.3	-	1	1350	c.958C>T	c.(958-960)Cat>Tat	p.H320Y	TMEM168_uc010lju.3_Missense_Mutation_p.H320Y|TMEM168_uc011kmr.2_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	Homo sapiens transmembrane protein 168 (TMEM168), mRNA.	320						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AATTTGGTATGGAATCCCCAA	0.348000														93			42		0	0	0.007835	0	0
STK11	6794	broad.mit.edu	37	19	1220485	1220485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:1220485C>T	uc002lrl.1	+	3	1693	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_000455	NP_000446	Q15831	STK11_HUMAN	Homo sapiens serine/threonine kinase 11 (STK11), mRNA.	193	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(4)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAAAATCTCCGACCTGGGC	0.677000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)				4			6		0	0	0.001984	0	0
OPRK1	4986	broad.mit.edu	37	8	54142187	54142187	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:54142187C>T	uc003xrh.1	-	2	1188	c.813G>A	c.(811-813)agG>agA	p.R271R	OPRK1_uc022aup.1_Silent_p.R151R|OPRK1_uc003xri.1_Silent_p.R271R|OPRK1_uc010lyc.1_Silent_p.R182R	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	271					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GTCTGGTGATCCTACGCAGGT	0.572000														38			13		0	0	0.002450	0	0
DROSHA	29102	broad.mit.edu	37	5	31405818	31405818	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:31405818C>T	uc003jhg.2	-	33	4319	c.3960G>A	c.(3958-3960)gcG>gcA	p.A1320A	DROSHA_uc003jhh.2_Silent_p.A1283A	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	1320	DRBM.|Necessary for interaction with DGCR8 and pri-miRNA processing activity.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTCCCATTTCCGCTTGCTGAA	0.269000														2			4		0	0	0.001168	0	0
LRP1B	53353	broad.mit.edu	37	2	141032011	141032011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:141032011C>T	uc002tvj.1	-	84	14096	c.13124G>A	c.(13123-13125)aGt>aAt	p.S4375N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4375					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATATCTTCACTGTCTTTATT	0.383000										TSP Lung(27;0.18)				24			10		0	0	0.000978	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816453	80816453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:80816453G>A	uc010ysh.2	+	13	2037	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	CTNNA2_uc010yse.2_Missense_Mutation_p.E678K|CTNNA2_uc010ysf.2_Missense_Mutation_p.E678K|CTNNA2_uc010ysg.2_Missense_Mutation_p.E678K|CTNNA2_uc010ysi.2_Missense_Mutation_p.E310K|CTNNA2_uc010ysj.2_Missense_Mutation_p.E7K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	678					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ACTACCGCAGGAGGAGAAGGC	0.507000														8			10		0	0	0.000673	0	0
FMNL2	114793	broad.mit.edu	37	2	153417498	153417498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:153417498C>T	uc002tye.3	+	5	912	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	182	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						AGCAACCTGCCCTCACCTGTG	0.542000														5			3		0	0	0.000602	0	0
UBR1	197131	broad.mit.edu	37	15	43367225	43367225	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:43367225G>A	uc001zqq.3	-	3	546	c.480C>T	c.(478-480)ggC>ggT	p.G160G	UBR1_uc010udk.1_Silent_p.G160G	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	160					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CACAAAAAGGGCCAGTTTTCC	0.363000														146			76		0	0	0.003610	0	0
PCDH15	65217	broad.mit.edu	37	10	55582303	55582303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:55582303C>T	uc010qhy.1	-	34	5599	c.5204G>A	c.(5203-5205)aGa>aAa	p.R1735K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.R1730K|PCDH15_uc021pqz.1_Missense_Mutation_p.R1705K|PCDH15_uc010qhv.1_Missense_Mutation_p.R1725K|PCDH15_uc010qhw.1_Missense_Mutation_p.R1688K|PCDH15_uc010qhx.1_Missense_Mutation_p.R1659K|PCDH15_uc010qhz.1_Missense_Mutation_p.R1730K|PCDH15_uc010qia.1_Missense_Mutation_p.R1708K|PCDH15_uc001jju.1_Missense_Mutation_p.R1728K|PCDH15_uc010qib.1_Missense_Mutation_p.R1705K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1728					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A1735A(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAAAATATTTCTTTCGGTTTC	0.443000										HNSCC(58;0.16)				17			8		0	0	0.003080	0	0
SMC6	79677	broad.mit.edu	37	2	17860180	17860180	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:17860180C>T	uc002rco.3	-	24	3152	c.2856G>A	c.(2854-2856)cgG>cgA	p.R952R	SMC6_uc010exo.3_Silent_p.R952R|SMC6_uc002rcn.3_Silent_p.R952R	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	952					DNA recombination|DNA repair	chromosome|nucleus	ATP binding	p.R952W(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CACAATAGGCCCGCTGAGATA	0.303000														37			10		0	0	0.001368	0	0
TTLL11	158135	broad.mit.edu	37	9	124794087	124794087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:124794087G>A	uc011lyl.2	-	2	1066	c.878C>T	c.(877-879)aCc>aTc	p.T293I	TTLL11_uc004blr.3_Intron|TTLL11_uc011lym.1_Intron|TTLL11_uc004blt.1_Missense_Mutation_p.T293I|TTLL11_uc004blu.1_Intron	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.	293	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						ATTCTGCATGGTTCTCACTGC	0.498000														48			20		0	0	0.001882	0	0
ANKRD45	339416	broad.mit.edu	37	1	173596232	173596233	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:173596232_173596233CC>TT	uc001gja.1	-	3	623_624	c.562_563GG>AA	c.(562-564)gga>AAa	p.G188K		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	204										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TTTCCCTGATCCCTTTTCTGTG	0.356000														52			15		0	0	0.004672	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8654159	8654159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:8654159C>T	uc002mkj.1	-	17	2399	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	ADAMTS10_uc002mki.1_Missense_Mutation_p.E196K|ADAMTS10_uc002mkk.1_Missense_Mutation_p.E341K	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	709	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AAGACGCCCTCGATGGTCTCG	0.672000														15			13		0	0	0.002450	0	0
OTOF	9381	broad.mit.edu	37	2	26702454	26702454	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:26702454C>T	uc002rhk.3	-	16	2107	c.1980G>A	c.(1978-1980)ggG>ggA	p.G660G	OTOF_uc002rhh.3_5'Flank|OTOF_uc002rhi.3_5'Flank|OTOF_uc002rhj.3_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	660					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCCTCATCCCCCGGCTCCT	0.637000														25			11		0	0	0.000978	0	0
TMEM131	23505	broad.mit.edu	37	2	98453576	98453576	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:98453576G>A	uc002syh.4	-	7	997	c.768C>T	c.(766-768)ctC>ctT	p.L256L	TMEM131_uc010yvg.1_Non-coding_Transcript	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	256						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GACCCGTTGGGAGTTCTAGGT	0.438000														41			13		0	0	0.001855	0	0
DNAH11	8701	broad.mit.edu	37	7	21781647	21781647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:21781647C>T	uc003svc.3	+	49	8069	c.8038C>T	c.(8038-8040)Cca>Tca	p.P2680S		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2680	AAA 3 (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						AGCATTTGCTCCATCAATTCT	0.403000									Kartagener syndrome					74			24		0	0	0.003954	0	0
SYNJ1	8867	broad.mit.edu	37	21	34030093	34030093	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:34030093C>G	uc002yqh.2	-	18	2511	c.2511G>C	c.(2509-2511)aaG>aaC	p.K837N	SYNJ1_uc011ads.1_Missense_Mutation_p.K793N|SYNJ1_uc002yqf.2_Missense_Mutation_p.K798N|SYNJ1_uc002yqg.2_Missense_Mutation_p.K793N|SYNJ1_uc002yqi.2_Missense_Mutation_p.K837N	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	798	Catalytic (Potential).						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGGTGCGGCACTTTTCACTGG	0.413000														39			9		0	0	0.004482	0	0
OR9G9	390174	broad.mit.edu	37	11	56468463	56468463	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:56468463C>T	uc010rjn.2	+	0	600	c.600C>T	c.(598-600)ttC>ttT	p.F200F	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TGATGTACTTCCTGCTGGCCT	0.512000														83			14		0	0	0.002450	0	0
PSD	5662	broad.mit.edu	37	10	104165107	104165107	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:104165107C>T	uc001kvg.1	-	11	2849	c.2322G>A	c.(2320-2322)agG>agA	p.R774R	PSD_uc001kvh.1_Silent_p.R395R|PSD_uc009xxd.1_Silent_p.R774R	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	774	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ACATACTCTTCCTGCAGTCAG	0.672000														82			34		0	0	0.002852	0	0
RREB1	6239	broad.mit.edu	37	6	7231372	7231372	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:7231372C>T	uc003mxb.3	+	9	3532	c.3040C>T	c.(3040-3042)Ctg>Ttg	p.L1014L	RREB1_uc021yky.1_Silent_p.L1014L|RREB1_uc003mxc.3_Silent_p.L1014L|RREB1_uc010jnx.3_Silent_p.L1014L|RREB1_uc021ykz.1_Silent_p.L1014L|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1014	Pro-rich.				Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCCTGTTCAGCTGGCGGTCCC	0.682000														22			9		0	0	0.004482	0	0
OR5D14	219436	broad.mit.edu	37	11	55563136	55563136	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:55563136C>T	uc010rim.2	+	0	105	c.105C>T	c.(103-105)ctC>ctT	p.L35L		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGTTTCTGCTCATGTATGTTA	0.403000														50			29		0	0	0.007291	0	0
HMCN1	83872	broad.mit.edu	37	1	186017936	186017936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:186017936G>A	uc001grq.1	+	41	6771	c.6542G>A	c.(6541-6543)gGa>gAa	p.G2181E		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2181	Ig-like C2-type 19.				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						AATGTTGCTGGAAAAACTGAA	0.353000														36			14		0	0	0.006122	0	0
FCRL5	83416	broad.mit.edu	37	1	157512802	157512802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:157512802C>T	uc009wsm.3	-	5	1128	c.970G>A	c.(970-972)Gag>Aag	p.E324K	FCRL5_uc001fqu.3_Missense_Mutation_p.E324K|FCRL5_uc010phv.1_Missense_Mutation_p.E324K|FCRL5_uc010phw.1_Missense_Mutation_p.E239K|FCRL5_uc001fqv.1_Missense_Mutation_p.E324K|FCRL5_uc010phx.2_Missense_Mutation_p.E75K	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	324	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGGACACCCTCATGATAAAAC	0.498000														44			23		0	0	0.001882	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767601	31767601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:31767601G>A	uc002nsy.4	-	1	3163	c.3098C>T	c.(3097-3099)cCc>cTc	p.P1033L		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	1033					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTCTTCCTCGGGGGAGGACGT	0.498000														20			4		0	0	0.000602	0	0
SLC25A21	89874	broad.mit.edu	37	14	37153057	37153057	+	Missense_Mutation	SNP	G	A	A	rs149535012	by1000genomes	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:37153057G>A	uc001wtz.2	-	8	1124	c.814C>T	c.(814-816)Ccc>Tcc	p.P272S	SLC25A21_uc021rsf.1_Missense_Mutation_p.P272S	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 (SLC25A21), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	272					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		ATAATCTTGGGAAGCAGGCCT	0.343000														32			7		0	0	0.003080	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26887601	26887601	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:26887601C>T	uc001bmr.1	+	15	1570	c.1407C>T	c.(1405-1407)caC>caT	p.H469H	RPS6KA1_uc010ofe.1_Silent_p.H377H|RPS6KA1_uc010off.1_Silent_p.H453H|RPS6KA1_uc001bms.1_Silent_p.H478H|RPS6KA1_uc009vsl.1_Silent_p.H312H	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	469	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		ATGGCCAGCACCCCAACATCA	0.512000														20			14		0	0	0.003163	0	0
SLC26A11	284129	broad.mit.edu	37	17	78195515	78195515	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:78195515C>T	uc002jyb.2	+	2	462	c.156C>T	c.(154-156)ttC>ttT	p.F52F	SGSH_uc002jxz.4_5'Flank|SGSH_uc002jya.4_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.2_Silent_p.F52F|SLC26A11_uc002jyd.2_Silent_p.F52F|SLC26A11_uc010dhv.2_Silent_p.F52F	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	52						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGATGGATTTCGTCGCCGGCC	0.682000														23			20		0	0	0.001882	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325393	47325393	+	RNA	SNP	C	T	T	rs61741514	by1000genomes	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:47325393C>T	uc001cqo.1	-	8		c.1175G>A								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		TGTTTACTACCGGTGCGTAGA	0.473000														53			13		0	0	0.001368	0	0
COL6A6	131873	broad.mit.edu	37	3	130354588	130354588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:130354588G>A	uc010htl.3	+	26	5105	c.5074G>A	c.(5074-5076)Gga>Aga	p.G1692R	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1692	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGGGCTGAAGGGAGCTAGAGG	0.383000														14			9		0	0	0.000978	0	0
MYO7A	4647	broad.mit.edu	37	11	76910664	76910665	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:76910664_76910665GG>AA	uc001oyb.2	+	34	4925_4926	c.4653_4654GG>AA	c.(4651-4656)gcgggg>gcAAgg	p.G1552R	MYO7A_uc010rsm.1_Intron|MYO7A_uc001oyc.2_Intron|MYO7A_uc009yus.1_Intron|MYO7A_uc009yut.1_Intron	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1552	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGACCCCGGCGGGGCCCTGTTC	0.639000														5			4		0	0	0.004672	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147030090	147030090	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:147030090C>T	uc010jgo.1	-	2	796	c.648G>A	c.(646-648)aaG>aaA	p.K216K	JAKMIP2_uc003loq.1_Silent_p.K216K|JAKMIP2_uc011dbx.1_Silent_p.K174K|JAKMIP2_uc003lor.1_Silent_p.K216K|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	216						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)			TGATCCTGTCCTTGGCTTTGA	0.388000														18			18		0	0	0.001216	0	0
CDH20	28316	broad.mit.edu	37	18	59166487	59166487	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:59166487C>T	uc010dps.1	+	1	467	c.315C>T	c.(313-315)atC>atT	p.I105I	CDH20_uc002lif.2_Silent_p.I99I	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	105	Cadherin 1.				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)				GTGCTGGCATCGTGTTTACCA	0.517000														8			8		0	0	0.000673	0	0
ACRC	93953	broad.mit.edu	37	X	70817802	70817803	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:70817802_70817803CC>TT	uc004eae.2	+	6	725_726	c.224_225CC>TT	c.(223-225)tcc>tTT	p.S75F	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	75						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TCACTCAGCTCCGTGGTAGTGA	0.401000														10			4		0	0	0.004672	0	0
CSMD2	114784	broad.mit.edu	37	1	34035068	34035068	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:34035068G>A	uc001bxm.1	-	51	8214	c.8037C>T	c.(8035-8037)atC>atT	p.I2679I	CSMD2_uc001bxn.1_Silent_p.I2681I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2681	Sushi 17.					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)				TGCAGGAGAAGATGGCTGTTG	0.562000														35			12		0	0	0.001368	0	0
TSC2	7249	broad.mit.edu	37	16	2125886	2125887	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:2125886_2125887CC>TT	uc002con.3	+	22	2738_2739	c.2632_2633CC>TT	c.(2632-2634)ccc>TTc	p.P878F	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.P878F|TSC2_uc002coo.3_Missense_Mutation_p.P878F|TSC2_uc010uvv.2_Missense_Mutation_p.P841F|TSC2_uc010uvw.2_Missense_Mutation_p.P829F|TSC2_uc002cop.3_Missense_Mutation_p.P678F	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	878					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GTACACCAACCCCTCCAAGTGA	0.658000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					17			15		0	0	0.004672	0	0
C12orf42	374470	broad.mit.edu	37	12	103700110	103700110	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:103700110C>T	uc001tjt.2	-	4	361	c.273G>A	c.(271-273)agG>agA	p.R91R	C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Silent_p.R91R|C12orf42_uc001tju.2_5'UTR	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	91										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AATTTTGAGTCCTTTCTGGAA	0.373000														7			7		0	0	0.003080	0	0
TMEM57	55219	broad.mit.edu	37	1	25812149	25812149	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:25812149C>T	uc001bkk.3	+	7	1561	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	TMEM57_uc009vru.3_Silent_p.I226I|TMEM57_uc009vrv.3_Silent_p.I95I	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	453						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGAATATCAGCCAGTTGG	0.353000														50			21		0	0	0.001882	0	0
CLASP1	23332	broad.mit.edu	37	2	122122776	122122776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:122122776G>A	uc002tnc.3	-	34	4358	c.3968C>T	c.(3967-3969)gCc>gTc	p.A1323V	CLASP1_uc010yyv.2_Missense_Mutation_p.A370V|CLASP1_uc002tmz.3_Missense_Mutation_p.A409V|CLASP1_uc002tna.3_Missense_Mutation_p.A370V|CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.A1264V|CLASP1_uc010yza.2_Missense_Mutation_p.A1256V|CLASP1_uc021vnl.1_Missense_Mutation_p.A1262V|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tmy.3_Missense_Mutation_p.A160V|CLASP1_uc002tnf.3_Missense_Mutation_p.A226V	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	1324	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTCCAGCAGGGCTCCCTTCCG	0.572000														9			6		0	0	0.001984	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138406667	138406667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:138406667C>T	uc003vuf.3	-	17	2352	c.2114G>A	c.(2113-2115)gGg>gAg	p.G705E	ATP6V0A4_uc003vug.3_Missense_Mutation_p.G705E|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.G705E	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	705					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTCCAGAGCCCCGTGGGTATC	0.532000														25			11		0	0	0.001368	0	0
C15orf2	23742	broad.mit.edu	37	15	24921244	24921244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:24921244C>T	uc001ywo.3	+	0	704	c.230C>T	c.(229-231)gCt>gTt	p.A77V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	77					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTCCCTCGGGCTGCGGCCGCC	0.706000														21			12		0	0	0.001368	0	0
LIPI	149998	broad.mit.edu	37	21	15561692	15561692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:15561692G>A	uc002yjm.3	-	1	168	c.158C>T	c.(157-159)tCc>tTc	p.S53F	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.S32F|LIPI_uc021whh.1_Missense_Mutation_p.S32F|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.S32F|LIPI_uc021whe.1_Missense_Mutation_p.S32F|LIPI_uc021whf.1_Missense_Mutation_p.S32F	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	32					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			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)		ATCTCTGAAGGAATCCTTTAC	0.353000														24			10		0	0	0.000673	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337352	13337352	+	Silent	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:13337352T>C	uc010ned.3	-	0	1167	c.702A>G	c.(700-702)gaA>gaG	p.E234E		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	Homo sapiens ataxin 3-like (ATXN3L), mRNA.	234					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	p.L233I(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GGCGGCTTAGTTCAAGGGCCC	0.423000														51			123		0	0	0.003610	0	0
DTNBP1	84062	broad.mit.edu	37	6	15615601	15615601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:15615601C>T	uc003nbm.3	-	5	574	c.385G>A	c.(385-387)Gag>Aag	p.E129K	DTNBP1_uc003nbl.3_Missense_Mutation_p.E48K|DTNBP1_uc010jph.3_Missense_Mutation_p.E116K|DTNBP1_uc003nbp.3_Missense_Mutation_p.E129K	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	129					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			AGGTTGTTCTCTACCTCCTCA	0.368000									Hermansky-Pudlak syndrome					57			17		0	0	0.007413	0	0
ZNF525	170958	broad.mit.edu	37	19	53884421	53884421	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:53884421C>T	uc010eqn.3	+	3	674	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.2_Intron					Homo sapiens zinc finger protein 525 (ZNF525), non-coding RNA.											endometrium(3)|kidney(3)|lung(3)	9						GGATAATTTTCTGAATTATTC	0.373000														37			17		0	0	0.004007	0	0
NFATC4	4776	broad.mit.edu	37	14	24841745	24841745	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:24841745A>G	uc001wpc.3	+	2	1616	c.1295A>G	c.(1294-1296)cAc>cGc	p.H432R	NFATC4_uc010alr.3_Missense_Mutation_p.H495R|NFATC4_uc010tok.2_Missense_Mutation_p.H495R|NFATC4_uc010tol.2_Missense_Mutation_p.H495R|NFATC4_uc010als.2_Missense_Mutation_p.H445R|NFATC4_uc010too.2_Missense_Mutation_p.H445R|NFATC4_uc010tom.2_Missense_Mutation_p.H445R|NFATC4_uc010ton.2_Missense_Mutation_p.H445R|NFATC4_uc010toq.2_Missense_Mutation_p.H464R|NFATC4_uc010alt.3_Missense_Mutation_p.H464R|NFATC4_uc010top.2_Missense_Mutation_p.H464R|NFATC4_uc010alu.3_Missense_Mutation_p.H124R|NFATC4_uc010tor.2_Missense_Mutation_p.H432R|NFATC4_uc010tos.2_Missense_Mutation_p.H362R|NFATC4_uc010tot.2_Missense_Mutation_p.H420R|NFATC4_uc010tou.2_Missense_Mutation_p.H362R|NFATC4_uc010tov.2_Missense_Mutation_p.H420R|NFATC4_uc010tow.2_Missense_Mutation_p.H362R|NFATC4_uc010alv.3_Missense_Mutation_p.H420R|NFATC4_uc010tox.2_Missense_Mutation_p.H362R|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank|NFATC4_uc010tpa.2_5'Flank|NFATC4_uc010tpb.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	432	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CACCGGGCCCACTATGAGACA	0.612000														30			8		0	0	0.004482	0	0
CFH	3075	broad.mit.edu	37	1	196659222	196659222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:196659222G>A	uc001gtj.4	+	8	1429	c.1189G>A	c.(1189-1191)Gga>Aga	p.G397R	CFH_uc021pgt.1_5'UTR|CFH_uc001gti.4_Missense_Mutation_p.G397R|CFH_uc009wyw.3_Missense_Mutation_p.G372R|CFH_uc009wyx.3_Missense_Mutation_p.G333R	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	397	Sushi 7.				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						TTTGGAAAATGGATATAATCA	0.328000														14			4		0	0	0.000248	0	0
POLR3A	11128	broad.mit.edu	37	10	79785850	79785850	+	Splice_Site	SNP	A	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:79785850A>C	uc001jzn.3	-	2	313	c.180_splice	c.e2+1	p.M60_splice		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	60					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGGGGGCCTTACCATCCTATG	0.537000														40			17		0	0	0.001882	0	0
ZNF470	388566	broad.mit.edu	37	19	57089815	57089815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:57089815G>A	uc002qnl.4	+	5	2694	c.2018G>A	c.(2017-2019)gGa>gAa	p.G673E	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	673					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)		ATTCATACTGGAGAAAGGCCC	0.423000														31			10		0	0	0.000978	0	0
COL5A3	50509	broad.mit.edu	37	19	10084245	10084245	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:10084245C>T	uc002mmq.1	-	50	3752	c.3666_splice	c.e50+1	p.P1222_splice		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1222	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.?(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CAGTCACTCACCGGGATGCCT	0.622000														24			17		0	0	0.001216	0	0
TRPM3	80036	broad.mit.edu	37	9	73150892	73150892	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:73150892T>C	uc004aid.3	-	24	5345	c.5101A>G	c.(5101-5103)Agc>Ggc	p.S1701G	TRPM3_uc004ahu.3_Missense_Mutation_p.S1543G|TRPM3_uc004ahv.3_Missense_Mutation_p.S1503G|TRPM3_uc004ahw.3_Missense_Mutation_p.S1573G|TRPM3_uc004ahx.3_Missense_Mutation_p.S1560G|TRPM3_uc004ahy.3_Missense_Mutation_p.S1563G|TRPM3_uc004ahz.3_Missense_Mutation_p.S1550G|TRPM3_uc004aia.3_Missense_Mutation_p.S1548G|TRPM3_uc004aib.3_Missense_Mutation_p.S1538G|TRPM3_uc004aic.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1726						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTTTCAAAGCTTTGGAAAGCC	0.507000														74			26		0	0	0.004656	0	0
MAMDC2	256691	broad.mit.edu	37	9	72840934	72840934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:72840934G>A	uc004ahm.2	+	13	2664	c.2047G>A	c.(2047-2049)Gaa>Aaa	p.E683K	MAMDC2_uc004ahn.2_Non-coding_Transcript|LOC100507299_uc004ahq.1_Intron|LOC100507299_uc022bhz.1_Intron	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	683						endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GGACTTAAATGAAATTGAGTA	0.299000														50			12		0	0	0.003163	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724037	7724037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:7724037C>T	uc001aoi.3	+	8	1637	c.1430C>T	c.(1429-1431)cCa>cTa	p.P477L		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	477					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)		CGGAAGATTCCAGAAACCACC	0.597000			T	WWTR1	epitheliod hemangioendothelioma									38			14		0	0	0.004007	0	0
PITPNM1	9600	broad.mit.edu	37	11	67262362	67262362	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:67262362G>A	uc001olx.3	-	16	2886	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	PITPNM1_uc001olw.3_Silent_p.F181F|PITPNM1_uc001oly.3_Silent_p.F899F|PITPNM1_uc001olz.3_Silent_p.F898F	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	899					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TCTCCCTGGGGAAGGCCGGGC	0.672000														54			39		0	0	0.002522	0	0
GYS1	2997	broad.mit.edu	37	19	49473059	49473059	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:49473059G>A	uc002plp.3	-	14	2104	c.1863C>T	c.(1861-1863)ttC>ttT	p.F621F	GYS1_uc010emm.3_Silent_p.F557F|GYS1_uc010xzz.2_Silent_p.F541F	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	621					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GCTCGTAGGTGAAGTGCTCTG	0.622000														23			15		0	0	0.004990	0	0
FPR3	2359	broad.mit.edu	37	19	52327119	52327119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:52327119G>A	uc002pxt.1	+	1	302	c.118G>A	c.(118-120)Ggg>Agg	p.G40R	FPR3_uc021uyq.1_Missense_Mutation_p.G40R	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	40					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.F39F(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTTTGTCTTCGGGGTCCTGGG	0.552000														51			22		0	0	0.002299	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64627614	64627614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:64627614C>T	uc003dmg.3	-	11	1798	c.1766G>A	c.(1765-1767)gGa>gAa	p.G589E	ADAMTS9_uc011bfo.2_Missense_Mutation_p.G561E|ADAMTS9_uc003dmh.1_Missense_Mutation_p.G418E|ADAMTS9_uc003dmk.1_Missense_Mutation_p.G589E	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	589	TSP type-1 1.				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)		TCCCCAGGATCCATCTGTCAC	0.493000														266			92		0	0	0.003610	0	0
RYR2	6262	broad.mit.edu	37	1	237947468	237947468	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:237947468C>T	uc001hyl.1	+	89	12576	c.12456C>T	c.(12454-12456)atC>atT	p.I4152I	RYR2_uc010pya.2_Silent_p.I567I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4152					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTTGAAATCAGTGAGTCCA	0.502000														39			26		0	0	0.002445	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120161	103120161	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:103120161C>T	uc002tbz.4	+	2	1432	c.975C>T	c.(973-975)atC>atT	p.I325I		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	325					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCTCCGGCATCCTGGCGTGAG	0.433000														44			19		0	0	0.001882	0	0
SAMD12	401474	broad.mit.edu	37	8	119391936	119391936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:119391936C>T	uc003yom.2	-	3	455	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	SAMD12_uc010mda.1_Missense_Mutation_p.R109Q|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	109	SAM.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CAGCAGGGCTCGCCCTGCAGG	0.478000														43			23		0	0	0.006320	0	0
OR4A15	81328	broad.mit.edu	37	11	55135918	55135918	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:55135918C>T	uc010rif.2	+	0	559	c.559C>T	c.(559-561)Caa>Taa	p.Q187*		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTCATTGGTTCAATTTCTCTT	0.423000														79			35		0	0	0.004289	0	0
OR6C2	341416	broad.mit.edu	37	12	55846588	55846588	+	Silent	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:55846588T>C	uc001sgz.1	+	0	591	c.591T>C	c.(589-591)gtT>gtC	p.V197V		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						AACAGATGGTTATACTTATGG	0.403000														61			34		0	0	0.004289	0	0
C1orf94	84970	broad.mit.edu	37	1	34677852	34677852	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:34677852C>T	uc001bxt.3	+	5	2404	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	C1orf94_uc001bxs.4_Silent_p.F332F	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	332							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGCAGATCTTCCGCTCTTCCT	0.557000														31			16		0	0	0.001216	0	0
PLRG1	5356	broad.mit.edu	37	4	155467365	155467365	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:155467365C>T	uc003iny.3	-	5	439	c.314_splice	c.e5-1	p.G105_splice	PLRG1_uc003inz.3_Splice_Site_p.G96_splice|PLRG1_uc011cil.2_Intron	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	105						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CAAAGCAACCCCTATTAAAAT	0.348000														15			7		0	0	0.003080	0	0
PSKH2	85481	broad.mit.edu	37	8	87076519	87076519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:87076519G>A	uc011lfy.2	-	1	527	c.527C>T	c.(526-528)gCg>gTg	p.A176V		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	176	Protein kinase.		A -> S (in dbSNP:rs6998760).				ATP binding|protein serine/threonine kinase activity	p.A176S(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TATCTGCAGCGCATGCAAATA	0.443000														34			21		0	0	0.002299	0	0
IL17RD	54756	broad.mit.edu	37	3	57131690	57131690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:57131690C>T	uc003dil.3	-	11	2130	c.2041G>A	c.(2041-2043)Gga>Aga	p.G681R	IL17RD_uc003dik.3_Missense_Mutation_p.G657R|IL17RD_uc010hna.3_Missense_Mutation_p.G537R|IL17RD_uc011bex.1_Missense_Mutation_p.G537R	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	681						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GTCGAGAGTCCTTCCATCAGT	0.622000														2			5		0	0	0.001984	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645474	122645475	+	Silent	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:122645474_122645475GG>AA	uc003efz.1	-	8	1204_1205	c.900_901CC>TT	c.(898-903)ttcctg>ttTTtg	p.300_301FL>FL	SEMA5B_uc011bju.1_Silent_p.242_243FL>FL|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.300_301FL>FL|SEMA5B_uc010hro.1_Silent_p.242_243FL>FL|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	300	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TTCTCCCGCAGGAAGAAGTATG	0.609000														12			4		0	0	0.004672	0	0
CHIA	27159	broad.mit.edu	37	1	111854318	111854318	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:111854318C>T	uc001eas.3	+	2	190	c.33C>T	c.(31-33)gtC>gtT	p.V11V	CHIA_uc001ear.3_Intron|CHIA_uc001eaq.3_5'UTR|CHIA_uc009wgc.3_5'UTR|CHIA_uc001eat.3_Intron|CHIA_uc001eav.3_5'UTR|CHIA_uc001eau.3_5'UTR|CHIA_uc009wgd.3_5'UTR	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	11					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	p.T10I(1)|p.F11S(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CAGGTCTTGTCCTTATACTGA	0.383000														78			36		0	0	0.007835	0	0
SLC5A5	6528	broad.mit.edu	37	19	18004596	18004596	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:18004596C>T	uc002nhr.4	+	14	2189	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	614					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTCTGTTTTTCTTGGGGCAGA	0.577000														2			7		0	0	0.003080	0	0
ROBO1	6091	broad.mit.edu	37	3	78667166	78667166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:78667166G>A	uc003dqe.2	-	26	4109	c.3901C>T	c.(3901-3903)Cca>Tca	p.P1301S	ROBO1_uc003dqc.2_Missense_Mutation_p.P1201S|ROBO1_uc003dqd.2_Missense_Mutation_p.P1256S|ROBO1_uc003dqb.2_Missense_Mutation_p.P1262S|ROBO1_uc010hoh.2_Missense_Mutation_p.P493S|ROBO1_uc011bgl.1_Missense_Mutation_p.P873S	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1301					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGCCGTGGTGGTGGAGGAGGA	0.478000														25			8		0	0	0.006214	0	0
DENND1B	163486	broad.mit.edu	37	1	197522237	197522237	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:197522237G>A	uc021pgu.1	-	15	1493	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	DENND1B_uc010ppf.2_Intron|DENND1B_uc001guf.3_Silent_p.I385I|DENND1B_uc001gue.3_Silent_p.I355I	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	385	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						GTCGACCATCGATAAACTAGA	0.303000														24			9		0	0	0.006214	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117789427	117789427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:117789427G>A	uc001prs.2	-	1	294	c.148C>T	c.(148-150)Cct>Tct	p.P50S	TMPRSS13_uc009yzr.2_Missense_Mutation_p.P50S|TMPRSS13_uc021qrc.1_Missense_Mutation_p.P50S|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.2_Missense_Mutation_p.P50S	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	50	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CGGCCCGGAGGTGTCCCAGCT	0.682000														14			11		0	0	0.000673	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149079	52149079	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:52149079C>T	uc002pxf.4	-	2	776	c.656G>A	c.(655-657)gGa>gAa	p.G219E		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	219	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		CACCTGAGCTCCTTGGCGTTT	0.647000														17			16		0	0	0.002299	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103465993	103465993	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:103465993C>A	uc001ymi.1	-	4	737	c.505G>T	c.(505-507)Gaa>Taa	p.E169*		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	169	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGCTTGTCTTCAAATTTGCTG	0.453000														13			18		6.49762e-13	8.13368e-13	0.006122	1	0
LPHN3	23284	broad.mit.edu	37	4	62897274	62897274	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:62897274C>T	uc010ihh.3	+	19	3506	c.3333C>T	c.(3331-3333)ttC>ttT	p.F1111F	LPHN3_uc003hcq.4_Silent_p.F1111F|LPHN3_uc003hct.3_Silent_p.F495F	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	1089					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCACCATTTTCAATTCTCTAC	0.348000														40			25		0	0	0.003954	0	0
CUEDC2	79004	broad.mit.edu	37	10	104183554	104183554	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:104183554C>T	uc001kvn.2	-	7	807	c.656_splice	c.e7+1	p.K219_splice	CUEDC2_uc001kvm.2_5'Flank	NM_024040	NP_076945	Q9H467	CUED2_HUMAN	Homo sapiens CUE domain containing 2 (CUEDC2), mRNA.	219						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		cccagACTCACTTCTGCAGGA	0.612000														21			17		0	0	0.004007	0	0
ARID5A	10865	broad.mit.edu	37	2	97215195	97215195	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:97215195G>A	uc002swe.3	+	3	359	c.259_splice	c.e3+1	p.I87_splice	ARID5A_uc010yuq.2_Splice_Site|ARID5A_uc002swf.3_Intron|ARID5A_uc002swg.3_Intron	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	87	ARID.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GCTTCAAGCAGAGTGCGTCCC	0.677000														40			14		0	0	0.004007	0	0
ZNF14	7561	broad.mit.edu	37	19	19822381	19822381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:19822381G>A	uc002nnk.1	-	3	1863	c.1709C>T	c.(1708-1710)tCt>tTt	p.S570F		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTTACTGGAAGAAATGAAGGC	0.418000														16			16		0	0	0.003163	0	0
DOCK2	1794	broad.mit.edu	37	5	169494601	169494601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:169494601G>A	uc003maf.3	+	44	4635	c.4555G>A	c.(4555-4557)Gat>Aat	p.D1519N	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.D1011N|DOCK2_uc003mah.3_Missense_Mutation_p.D75N	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1519	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTACCAGAGTGATGAGACCCT	0.493000														14			26		0	0	0.005443	0	0
MCTP1	79772	broad.mit.edu	37	5	94230531	94230531	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:94230531G>A	uc003kkx.2	-	10	1662	c.1662C>T	c.(1660-1662)gtC>gtT	p.V554V	MCTP1_uc003kkv.2_Silent_p.V333V|MCTP1_uc003kkw.2_Silent_p.V287V|MCTP1_uc003kkz.2_Silent_p.V215V|MCTP1_uc003kku.2_Silent_p.V70V	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	554					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTGACAGGTCGACCTGGCACC	0.468000														5			12		0	0	0.001368	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	25498	25498	+	RNA	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrGL000241.1:25498G>A	uc011mgv.2	-	3		c.494C>T								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		GGAGCTCCCAGGGTAAAAAGA	0.423000														181			26		0	0	0.007291	0	0
LRP1B	53353	broad.mit.edu	37	2	141108405	141108405	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:141108405G>A	uc002tvj.1	-	76	12825	c.11853C>T	c.(11851-11853)atC>atT	p.I3951I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3951					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R3950M(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTCTGCCATGGATCCTTTTGT	0.343000										TSP Lung(27;0.18)				28			9		0	0	0.004482	0	0
CRB1	23418	broad.mit.edu	37	1	197297627	197297627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:197297627C>T	uc001gtz.3	+	1	355	c.146C>T	c.(145-147)tCa>tTa	p.S49L	CRB1_uc010poz.2_5'UTR|CRB1_uc001gty.2_Missense_Mutation_p.S49L|CRB1_uc009wza.3_Missense_Mutation_p.S49L|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.S49L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	49	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			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						AAAGATTTTTCAAAAGACAAT	0.363000														19			15		0	0	0.002450	0	0
PCCB	5096	broad.mit.edu	37	3	136048787	136048787	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:136048787C>T	uc011bmc.2	+	15	1650	c.1599C>T	c.(1597-1599)gcC>gcT	p.A533A	PCCB_uc003eqz.1_Silent_p.A513A|PCCB_uc003eqy.2_Silent_p.A513A	NM_001178014	NP_001171485	P05166	PCCB_HUMAN	Homo sapiens propionyl CoA carboxylase, beta polypeptide (PCCB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	513					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	p.R529_K533delRPWRK(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CCACACGTGCCCGAATCTGCT	0.468000														44			19		0	0	0.001882	0	0
TMTC3	160418	broad.mit.edu	37	12	88589038	88589038	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:88589038A>G	uc001tau.3	+	13	2577	c.2357A>G	c.(2356-2358)gAc>gGc	p.D786G		NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	787						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GAAGAAAAAGACTTATTAAAA	0.343000														36			24		0	0	0.003330	0	0
KIAA1653	0	broad.mit.edu	37	22	20294298	20294298	+	RNA	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:20294298T>C	uc002zrw.1	+	0		c.2738T>C								Homo sapiens mRNA for KIAA1653 protein, partial cds.																		GCAGCGGAAGTTCAATGTGGA	0.607000														34			18		0	0	0.007413	0	0
THBS3	7059	broad.mit.edu	37	1	155166889	155166889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:155166889C>T	uc001fix.3	-	20	2720	c.2615G>A	c.(2614-2616)cGg>cAg	p.R872Q	THBS3_uc021pat.1_Missense_Mutation_p.R269Q|THBS3_uc010pfu.2_Missense_Mutation_p.R752Q|THBS3_uc009wqi.3_Missense_Mutation_p.R863Q|THBS3_uc001fiy.3_Missense_Mutation_p.R401Q	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	872	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		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)			GGTCTTGTCCCGCCAGCCCAC	0.622000														31			24		0	0	0.003330	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31851278	31851278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:31851278G>A	uc003akz.2	-	8	1321	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	EIF4ENIF1_uc003akx.2_Missense_Mutation_p.P54S|EIF4ENIF1_uc003aky.2_Missense_Mutation_p.P54S|EIF4ENIF1_uc003ala.2_Missense_Mutation_p.P375S|EIF4ENIF1_uc003alb.2_Missense_Mutation_p.P212S	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.	375						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTGTCCAGGAGAGAGGATG	0.383000														29			10		0	0	0.001855	0	0
PTPRD	5789	broad.mit.edu	37	9	8375969	8375969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:8375969G>A	uc003zkk.3	-	38	5371	c.4628C>T	c.(4627-4629)cCt>cTt	p.P1543L	PTPRD_uc003zkp.3_Missense_Mutation_p.P1137L|PTPRD_uc003zkq.3_Missense_Mutation_p.P1136L|PTPRD_uc003zkr.3_Missense_Mutation_p.P1127L|PTPRD_uc003zks.3_Missense_Mutation_p.P1136L|PTPRD_uc022bdj.1_Missense_Mutation_p.P1133L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1543	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGCATCGGGAGGGTTACAGGT	0.468000										TSP Lung(15;0.13)				18			22		0	0	0.002780	0	0
TMCO4	255104	broad.mit.edu	37	1	20066335	20066335	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:20066335G>A	uc001bcn.3	-	11	1403	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	TMCO4_uc001bco.1_Silent_p.I387I|TMCO4_uc001bcp.1_Silent_p.I347I	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	387						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGGAGAGCAGGATGTGGGCCA	0.592000														31			15		0	0	0.002450	0	0
GPATCH3	63906	broad.mit.edu	37	1	27223982	27223982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:27223982G>A	uc001bne.3	-	1	715	c.686C>T	c.(685-687)tCc>tTc	p.S229F	BC016143_uc021ojq.1_Intron|GPATCH3_uc009vsp.2_Missense_Mutation_p.S40F	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	Homo sapiens G patch domain containing 3 (GPATCH3), mRNA.	229						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GTAGCGCCGGGAGGAACCTGT	0.577000														69			31		0	0	0.002096	0	0
TUBAL3	79861	broad.mit.edu	37	10	5436106	5436106	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:5436106C>T	uc001ihy.3	-	3	753	c.715G>A	c.(715-717)Gtt>Att	p.V239I	TUBAL3_uc001ihz.3_Missense_Mutation_p.V199I	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	239					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						ACCACCTGAACCACCAATCTA	0.488000														33			24		0	0	0.002299	0	0
CRB1	23418	broad.mit.edu	37	1	197396999	197396999	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:197396999C>T	uc001gtz.3	+	6	2753	c.2544C>T	c.(2542-2544)ttC>ttT	p.F848F	CRB1_uc010poz.2_Silent_p.F779F|CRB1_uc009wza.3_Silent_p.F736F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.F329F|CRB1_uc001gub.1_Silent_p.F497F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	848	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			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						GTGGATTCTTCAAAGGCTGTA	0.383000														23			11		0	0	0.001855	0	0
MAEL	84944	broad.mit.edu	37	1	166959060	166959060	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:166959060G>A	uc001gdy.1	+	1	290	c.219G>A	c.(217-219)gaG>gaA	p.E73E	MAEL_uc021peh.1_Silent_p.E17E|MAEL_uc001gdz.1_Intron|MAEL_uc009wvf.1_5'Flank	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	73					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						GGCCCTCAGAGAAGCAGGTAA	0.512000														35			8		0	0	0.003080	0	0
CCDC13	152206	broad.mit.edu	37	3	42781285	42781285	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:42781285C>T	uc003cly.4	-	8	1089	c.1005G>A	c.(1003-1005)cgG>cgA	p.R335R		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	335										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGAGGACATCCCGTTCACTGG	0.522000														39			21		0	0	0.001882	0	0
ERAL1	26284	broad.mit.edu	37	17	27182104	27182104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:27182104G>A	uc002hcy.1	+	0	62	c.52G>A	c.(52-54)Gtc>Atc	p.V18I	ERAL1_uc002hcx.1_Missense_Mutation_p.V18I|ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_5'Flank	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.	18				RV -> KI (in Ref. 3; AAG12978).	ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|rRNA binding|ribosomal small subunit binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GGTGTTAAGAGTCTGGCAGGT	0.637000														11			13		0	0	0.001855	0	0
KIAA1274	27143	broad.mit.edu	37	10	72298880	72298880	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:72298880C>T	uc001jrd.4	+	13	1883	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D	KIAA1274_uc001jre.4_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	534										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						ACCTGACGGACGCCAAGAGGA	0.697000														11			9		0	0	0.004482	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536663	90536663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:90536663C>T	uc010mqi.3	+	3	1870	c.1841C>T	c.(1840-1842)cCc>cTc	p.P614L	FAM75C1_uc004apq.4_Missense_Mutation_p.P597L	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CAGGCTTTTCCCGTATCCAAC	0.542000														69			47		0	0	0.003610	0	0
ATP8A1	10396	broad.mit.edu	37	4	42558049	42558049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:42558049G>A	uc003gwr.2	-	15	1581	c.1349C>T	c.(1348-1350)tCa>tTa	p.S450L	ATP8A1_uc003gws.2_Missense_Mutation_p.S435L|ATP8A1_uc011byz.1_Missense_Mutation_p.S435L	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	450					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCCAAACTGTGAGTTCTGCCT	0.328000														12			7		0	0	0.001984	0	0
FAM9C	171484	broad.mit.edu	37	X	13061897	13061897	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:13061897C>T	uc004cvh.2	-	1	339	c.12G>A	c.(10-12)aaG>aaA	p.K4K	FAM9C_uc004cvg.3_Silent_p.K4K	NM_174901	NP_777561	Q8IZT9	FAM9C_HUMAN	Homo sapiens family with sequence similarity 9, member C (FAM9C), mRNA.	4						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CCAACTGGTCCTTGGCAGCCA	0.592000														2			7		0	0	0.003080	0	0
GEM	2669	broad.mit.edu	37	8	95264276	95264276	+	Nonsense_Mutation	SNP	A	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:95264276A>C	uc003ygi.3	-	3	708	c.584T>G	c.(583-585)tTa>tGa	p.L195*	GEM_uc003ygj.3_Nonsense_Mutation_p.L195*	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	195					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCACCGCACTAAGTCACTTTT	0.517000														16			32		0	0	0.006999	0	0
PRSS1	5644	broad.mit.edu	37	7	142459670	142459670	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:142459670G>A	uc003wak.2	+	2	263	c.246G>A	c.(244-246)gaG>gaA	p.E82E	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_Silent_p.E22E	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	82	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)			AAGTCCTGGAGGGGAATGAGC	0.542000														122			8		0	0	0.006214	0	0
USP40	55230	broad.mit.edu	37	2	234460057	234460057	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:234460057G>A	uc010zmr.2	-	5	838	c.838C>T	c.(838-840)Cct>Tct	p.P280S	USP40_uc010zmt.1_5'Flank|USP40_uc010zmu.1_Missense_Mutation_p.P268S	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	268				CEQSELDDLEYIYDLFSVIIHKGGCYGGHYHVYIKDVDHLG N -> FFSFNQKMHNVCVNRRYGGSGMPLLRCGRCVGSAQP LSSVFR (in Ref. 4; AAH67300).	ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		ATCCGGAGAGGGAATGTATAA	0.338000														13			7		0	0	0.004482	0	0
TLL1	7092	broad.mit.edu	37	4	166963230	166963230	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:166963230G>A	uc003irh.2	+	10	1960	c.1313G>A	c.(1312-1314)aGa>aAa	p.R438K	TLL1_uc011cjn.2_Missense_Mutation_p.R438K|TLL1_uc011cjo.2_Missense_Mutation_p.R262K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	438	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.S437_R438delSR(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACAGACAGCAGAATGTGGATT	0.368000														56			12		0	0	0.004007	0	0
MPDZ	8777	broad.mit.edu	37	9	13119586	13119586	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:13119586C>G	uc010mia.1	-	37	5351	c.5294G>C	c.(5293-5295)aGa>aCa	p.R1765T	MPDZ_uc003zkx.4_Missense_Mutation_p.R30T|MPDZ_uc003zky.4_Missense_Mutation_p.R299T|MPDZ_uc010mib.3_Missense_Mutation_p.R470T|MPDZ_uc010mhx.3_Missense_Mutation_p.R587T|MPDZ_uc011lmm.2_Missense_Mutation_p.R624T|MPDZ_uc003zkz.4_Missense_Mutation_p.R458T|MPDZ_uc010mhz.3_Missense_Mutation_p.R1732T|MPDZ_uc011lmn.2_Missense_Mutation_p.R1732T|MPDZ_uc010mhy.3_Missense_Mutation_p.R1765T|MPDZ_uc003zlb.4_Missense_Mutation_p.R1765T	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1765	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CTGCATCAGTCTTCCATCGGC	0.413000														26			29		0	0	0.001786	0	0
SLC9B1	150159	broad.mit.edu	37	4	103822358	103822358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:103822358C>T	uc003hww.3	-	11	1606	c.1464G>A	c.(1462-1464)atG>atA	p.M488I	SLC9B1_uc003hwu.3_Intron|SLC9B1_uc010ilm.3_Intron|SLC9B1_uc003hwv.3_Intron|SLC9B1_uc011cev.2_Missense_Mutation_p.M261I	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	488						integral to membrane	solute:hydrogen antiporter activity										CCAGAATGCCCATAAGTAGAG	0.418000														152			6		0	0	0.003080	0	0
DYSF	8291	broad.mit.edu	37	2	71730418	71730418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:71730418C>T	uc010fen.3	+	3	455	c.314C>T	c.(313-315)cCc>cTc	p.P105L	DYSF_uc010fei.3_Missense_Mutation_p.P104L|DYSF_uc010feh.3_Missense_Mutation_p.P104L|DYSF_uc002sig.4_Missense_Mutation_p.P104L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P104L|DYSF_uc010fee.3_Missense_Mutation_p.P104L|DYSF_uc010fef.3_Missense_Mutation_p.P104L|DYSF_uc002sie.3_Missense_Mutation_p.P104L|DYSF_uc010feo.3_Missense_Mutation_p.P105L|DYSF_uc010fej.3_Missense_Mutation_p.P105L|DYSF_uc010fel.3_Missense_Mutation_p.P105L|DYSF_uc010fem.3_Missense_Mutation_p.P105L|DYSF_uc002sif.3_Missense_Mutation_p.P105L|DYSF_uc010fek.3_Missense_Mutation_p.P105L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	104						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.L105fs*43(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTCAATGCCCCCCTGCTGGAC	0.592000														49			21		0	0	0.001523	0	0
TP53BP1	7158	broad.mit.edu	37	15	43720298	43720298	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:43720298G>A	uc001zrs.3	-	17	3877	c.3729C>T	c.(3727-3729)atC>atT	p.I1243I	TP53BP1_uc010udp.2_Silent_p.I1243I|TP53BP1_uc001zrq.4_Silent_p.I1248I|TP53BP1_uc001zrr.4_Silent_p.I1248I|TP53BP1_uc010udq.1_Silent_p.I1248I	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1243					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTACTTCCCGGATTGTTCTCA	0.423000								Other conserved DNA damage response genes						70			37		0	0	0.004878	0	0
GPR162	27239	broad.mit.edu	37	12	6933459	6933459	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:6933459A>G	uc001qqw.1	+	1	930	c.395A>G	c.(394-396)aAg>aGg	p.K132R	GPR162_uc010sfn.1_Missense_Mutation_p.K132R|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA.	132						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						AACGCCAAGAAGCAGGCACTG	0.622000														9			12		0	0	0.001368	0	0
MINK1	50488	broad.mit.edu	37	17	4789256	4789256	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:4789256C>T	uc010vsl.2	+	7	934	c.690C>T	c.(688-690)gcC>gcT	p.A230A	MINK1_uc010vsk.2_Silent_p.A230A|MINK1_uc010vsm.2_Silent_p.A230A|MINK1_uc010vsn.2_Silent_p.A230A|MINK1_uc010vso.2_Silent_p.A175A|MINK1_uc010vsp.2_5'UTR	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	230	Protein kinase.				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						CAGAGGGAGCCCCCCGTAAGT	0.567000														7			9		0	0	0.000673	0	0
BCL2L13	23786	broad.mit.edu	37	22	18209980	18209980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:18209980C>T	uc002zmw.3	+	6	1356	c.1138C>T	c.(1138-1140)Ctt>Ttt	p.L380F	BCL2L13_uc002zmx.3_Missense_Mutation_p.L218F|BCL2L13_uc002zmy.3_3'UTR|BCL2L13_uc010gqy.3_Missense_Mutation_p.L218F|BCL2L13_uc011agk.2_Missense_Mutation_p.L256F|BCL2L13_uc010gqz.3_Missense_Mutation_p.L100F|BCL2L13_uc002zmz.3_Missense_Mutation_p.L218F|BCL2L13_uc002zna.3_Missense_Mutation_p.L100F	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	Homo sapiens BCL2-like 13 (apoptosis facilitator) (BCL2L13), nuclear gene encoding mitochondrial protein, mRNA.	380	Glu-rich.				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GTTTGTAGAACTTGATGAAGA	0.512000														41			24		0	0	0.002299	0	0
ZNF19	7567	broad.mit.edu	37	16	71509998	71509998	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:71509998A>G	uc010cgc.1	-	5	958	c.452T>C	c.(451-453)gTt>gCt	p.V151A	ZNF23_uc002fai.3_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.V139A|ZNF19_uc002fal.1_Missense_Mutation_p.V139A|ZNF19_uc002fam.1_Missense_Mutation_p.V151A	NM_006961	NP_008892	P17023	ZNF19_HUMAN	Homo sapiens zinc finger protein 19 (ZNF19), mRNA.	151						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)		GATTCTTGGAACCTTTCCTTG	0.458000														16			12		0	0	0.001368	0	0
SI	6476	broad.mit.edu	37	3	164786619	164786619	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:164786619C>T	uc003fei.3	-	5	437	c.374_splice	c.e5-1	p.G125_splice		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	125	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGCTTCAACTCCTTAAAGAAT	0.303000										HNSCC(35;0.089)				34			23		0	0	0.003330	0	0
NIPBL	25836	broad.mit.edu	37	5	36976077	36976077	+	Silent	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:36976077T>C	uc003jkl.4	+	8	1567	c.1068T>C	c.(1066-1068)acT>acC	p.T356T	NIPBL_uc003jkk.4_Silent_p.T356T|NIPBL_uc003jkm.1_Silent_p.T235T	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	356					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.T356I(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGACTCTACTAAACTTACAT	0.363000														17			16		0	0	0.006122	0	0
EIF5B	9669	broad.mit.edu	37	2	100010788	100010788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:100010788G>A	uc002tab.3	+	18	3123	c.2939G>A	c.(2938-2940)gGa>gAa	p.G980E	EIF5B_uc010yvq.2_5'UTR	NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	980					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						GAAGAAAAAGGAGTCTATGTC	0.393000														44			30		0	0	0.006320	0	0
ITPR1	3708	broad.mit.edu	37	3	4725191	4725191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:4725191C>T	uc003bqc.3	+	25	3588	c.3238C>T	c.(3238-3240)Cgg>Tgg	p.R1080W	ITPR1_uc021wsi.1_Missense_Mutation_p.R1086W|ITPR1_uc021wsj.1_Missense_Mutation_p.R1071W|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1095					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCTCCTCTTCCGGCACTTCAG	0.592000														12			23		0	0	0.002780	0	0
HNF1A	6927	broad.mit.edu	37	12	121431395	121431395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:121431395G>A	uc001tzg.3	+	2	622	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.R200Q|HNF1A_uc001tzf.3_Missense_Mutation_p.R200Q|HNF1A_uc010szn.2_Missense_Mutation_p.R200Q|HNF1A_uc021rfa.1_Missense_Mutation_p.R200Q|HNF1A_uc021rfb.1_Missense_Mutation_p.R72Q|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	200			R -> W (in MODY3; expected to interfere with nuclear localization).		glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAGAAGGGGCGGAGGAACCGT	0.592000									Hepatic Adenoma, Familial Clustering of					214			103		0	0	0.003610	0	0
CYP2J2	1573	broad.mit.edu	37	1	60377919	60377919	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:60377919C>T	uc001czq.3	-	2	443	c.438G>A	c.(436-438)agG>agA	p.R146R		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	146					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	p.L145L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					AACCAAAGTTCCTTAGTGCTG	0.438000														57			21		0	0	0.001523	0	0
OR5D18	219438	broad.mit.edu	37	11	55587751	55587751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:55587751C>T	uc010rin.2	+	0	646	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACTCATCGTTCTCACATCTTA	0.483000														42			21		0	0	0.003330	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32498788	32498788	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:32498788G>A	uc001bub.3	+	4	731	c.625_splice	c.e4-1	p.E209_splice	KHDRBS1_uc001bua.1_Splice_Site_p.E170_splice|KHDRBS1_uc001buc.1_Splice_Site	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 1 (KHDRBS1), mRNA.	209					G2/M transition of mitotic cell cycle|cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTTTTCCATAGGAGGAAGAGC	0.458000														21			16		0	0	0.003163	0	0
OR51I1	390063	broad.mit.edu	37	11	5462626	5462626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:5462626G>A	uc010qze.2	-	0	158	c.119C>T	c.(118-120)tCc>tTc	p.S40F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTACAATGGAGATCATGTA	0.517000														14			22		0	0	0.003954	0	0
NOTCH3	4854	broad.mit.edu	37	19	15273333	15273333	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:15273333C>T	uc002nan.3	-	31	5932	c.5856G>A	c.(5854-5856)gtG>gtA	p.V1952V		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1952					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.V1952V(3)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AAGTGGCTTCCACGTTGTTCA	0.587000														47			10		0	0	0.001855	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660467	77660467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:77660467G>A	uc011cbx.2	+	4	2094	c.1141G>A	c.(1141-1143)Ggt>Agt	p.G381S	SHROOM3_uc011cbz.1_Missense_Mutation_p.G205S|SHROOM3_uc003hkf.1_Missense_Mutation_p.G256S|SHROOM3_uc003hkg.3_Missense_Mutation_p.G159S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	381					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCTAAGGTGGGTGCACCCCT	0.617000														22			20		0	0	0.007413	0	0
BCORL1	63035	broad.mit.edu	37	X	129147484	129147484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:129147484C>T	uc022cdu.1	+	2	780	c.736C>T	c.(736-738)Cca>Tca	p.P246S	BCORL1_uc010nrd.1_Missense_Mutation_p.P148S	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	246	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CACTTCGGTTCCAGCTCCTTC	0.617000														13			42		0	0	0.003610	0	0
LRWD1	222229	broad.mit.edu	37	7	102106642	102106642	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:102106642C>T	uc003uzn.3	+	2	495	c.357C>T	c.(355-357)ctC>ctT	p.L119L	ALKBH4_uc003uzl.3_5'Flank|ALKBH4_uc003uzm.3_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	119					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						TGCCCACGCTCCGTAAGGTCA	0.542000														33			24		0	0	0.003954	0	0
DBC1	1620	broad.mit.edu	37	9	122011343	122011343	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:122011343G>A	uc004bkc.2	-	2	760	c.304C>T	c.(304-306)Caa>Taa	p.Q102*	DBC1_uc004bkd.2_Nonsense_Mutation_p.Q102*	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	102	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						ATGCTCCTTTGAAACTCCGGC	0.552000														23			18		0	0	0.006122	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797904	31797904	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:31797904G>A	uc002yob.1	-	0	327	c.327C>T	c.(325-327)tcC>tcT	p.S109S		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	Homo sapiens keratin associated protein 13-3 (KRTAP13-3), mRNA.	109						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						CACAGCTCAGGGAGCAGCAGC	0.517000														16			9		0	0	0.006214	0	0
ATR	545	broad.mit.edu	37	3	142217461	142217461	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:142217461G>A	uc003eux.4	-	31	5658	c.5536C>T	c.(5536-5538)Cga>Tga	p.R1846*		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1846	FAT.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCATATCCTCGTTGGTAGGAG	0.343000								Other conserved DNA damage response genes						20			6		0	0	0.001984	0	0
REG4	83998	broad.mit.edu	37	1	120337285	120337285	+	Missense_Mutation	SNP	C	T	T	rs150927973		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:120337285C>T	uc001eig.3	-	6	873	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	REG4_uc001eif.3_Missense_Mutation_p.E145K	NM_001159352	NP_114433	Q9BYZ8	REG4_HUMAN	Homo sapiens regenerating islet-derived family, member 4 (REG4), transcript variant 1, mRNA.	145	C-type lectin.					extracellular region	sugar binding	p.E145K(4)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TTGTTGCATTCGTTGCTGCTC	0.423000														238			508		0	0	0.003610	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39387460	39387461	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:39387460_39387461CC>TT	uc003awo.1	+	5	901_902	c.847_848CC>TT	c.(847-849)ccc>TTc	p.P283F	APOBEC3B_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.P258F|APOBEC3B_uc003awq.1_Non-coding_Transcript	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B (APOBEC3B), mRNA.	283					negative regulation of transposition		RNA binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CTCCTGGAGCCCCTGCTTCTCC	0.594000														42			25		0	0	0.004672	0	0
NXF3	56000	broad.mit.edu	37	X	102338552	102338552	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:102338552G>A	uc004eju.3	-	3	491	c.420C>T	c.(418-420)ccC>ccT	p.P140P	NXF3_uc010noi.1_5'UTR|NXF3_uc011mrw.1_Silent_p.P140P|NXF3_uc011mrx.1_Silent_p.P51P	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	140	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.P140T(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTGGGACGAAGGGTACACTGC	0.453000														22			50		0	0	0.003610	0	0
QTRTD1	79691	broad.mit.edu	37	3	113795776	113795776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:113795776G>A	uc003eaz.3	+	5	855	c.769G>A	c.(769-771)Gag>Aag	p.E257K	QTRTD1_uc003eay.3_Missense_Mutation_p.E245K|QTRTD1_uc011biq.2_Missense_Mutation_p.E122K|QTRTD1_uc011bir.2_Missense_Mutation_p.E139K|QTRTD1_uc003eba.3_Missense_Mutation_p.E122K	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase domain containing 1 (QTRTD1), mRNA.	245					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						AGAGCTGCCGGAGGACAAGCC	0.542000														21			8		0	0	0.003080	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482336	140482336	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140482336C>T	uc003lio.3	+	0	2103	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	701					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCGCTCTTCCTCTTTTCGG	0.697000														36			56		0	0	0.003610	0	0
C2CD3	26005	broad.mit.edu	37	11	73789508	73789508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:73789508G>A	uc001ouu.2	-	22	4482	c.4255C>T	c.(4255-4257)Cat>Tat	p.H1419Y	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1419						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGCACACAATGGATGGGCAGC	0.498000														25			11		0	0	0.000978	0	0
PIF1	80119	broad.mit.edu	37	15	65110166	65110166	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:65110166C>T	uc002ant.2	-	10	1719	c.1653G>A	c.(1651-1653)gcG>gcA	p.A551A	PIF1_uc002anr.2_Silent_p.A99A|PIF1_uc002ans.2_Silent_p.A242A|PIF1_uc010uiq.1_Silent_p.A551A	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	551	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						GGATGGACATCGCCCAGGCCA	0.632000														8			4		0	0	0.000602	0	0
ODZ2	57451	broad.mit.edu	37	5	167489216	167489217	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:167489216_167489217GG>AA	uc010jjd.3	+	6	1461_1462	c.1461_1462GG>AA	c.(1459-1464)aaggac>aaAAac	p.D488N	ODZ2_uc003lzq.2_Missense_Mutation_p.D367N|ODZ2_uc003lzr.4_Missense_Mutation_p.D256N	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CCCTCGGGAAGGACGCTCTCTT	0.446000														25			15		0	0	0.004672	0	0
ERO1LB	56605	broad.mit.edu	37	1	236399106	236399106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:236399106G>A	uc001hxt.3	-	7	912	c.656C>T	c.(655-657)cCt>cTt	p.P219L		NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	Homo sapiens ERO1-like beta (S. cerevisiae) (ERO1LB), mRNA.	219					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AGGCGCCAGAGGATTTAAAGG	0.299000														15			13		0	0	0.006122	0	0
ANKRD11	29123	broad.mit.edu	37	16	89345503	89345503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:89345503G>A	uc002fmx.1	-	8	7908	c.7447C>T	c.(7447-7449)Ctc>Ttc	p.L2483F	ANKRD11_uc002fmy.1_Missense_Mutation_p.L2483F|ANKRD11_uc002fnc.1_Missense_Mutation_p.L2483F|ANKRD11_uc002fna.1_Missense_Mutation_p.L148F|ANKRD11_uc002fnb.1_Missense_Mutation_p.L2440F	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2483						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGCTTGCTGAGCGGCTTGCCG	0.657000														11			6		0	0	0.001168	0	0
INMT	11185	broad.mit.edu	37	7	30795310	30795310	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:30795310C>T	uc003tbs.1	+	2	651	c.635C>T	c.(634-636)tCc>tTc	p.S212F	FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.S211F	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	212						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CGTGAATTTTCCTGCGTGGCC	0.597000														16			10		0	0	0.001368	0	0
PLCB4	5332	broad.mit.edu	37	20	9388564	9388564	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:9388564G>A	uc021wam.1	+	18	1627	c.1612_splice	c.e18-1	p.G538_splice	PLCB4_uc010gbw.1_Splice_Site_p.G538_splice|PLCB4_uc010gbx.3_Splice_Site_p.G550_splice|PLCB4_uc021wal.1_Splice_Site_p.G538_splice|PLCB4_uc002wnh.3_Splice_Site_p.G385_splice	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	538					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GTGCTTGTAGGGCCTGGTCAC	0.408000														46			23		0	0	0.005443	0	0
SDK2	54549	broad.mit.edu	37	17	71431638	71431638	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:71431638G>A	uc010dfm.3	-	8	1146	c.1146C>T	c.(1144-1146)gcC>gcT	p.A382A	SDK2_uc010dfn.2_Silent_p.A61A	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	382	Ig-like C2-type 4.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTGCATTGCGGGCGAAGCACT	0.642000														7			4		0	0	0.001168	0	0
ZNF425	155054	broad.mit.edu	37	7	148801972	148801972	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:148801972G>A	uc003wfj.3	-	3	1124	c.991C>T	c.(991-993)Cag>Tag	p.Q331*		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	331					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGCGGACACTGGAAGGGCTTC	0.672000														15			8		0	0	0.003080	0	0
EPPK1	83481	broad.mit.edu	37	8	144945157	144945157	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:144945157C>T	uc003zaa.1	-	0	2278	c.2265G>A	c.(2263-2265)ttG>ttA	p.L755L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	755						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)			CCAACAGGATCAAGTTCAGCA	0.637000														99			26		0	0	0.001786	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974679	21974680	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:21974679_21974680GG>AA	uc003zpk.3	-	0	453_454	c.147_148CC>TT	c.(145-150)atccag>atTTag	p.Q50*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Nonsense_Mutation_p.Q50*|CDKN2A_uc010miu.3_Nonsense_Mutation_p.Q50*|CDKN2A_uc003zpl.3_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	50			Q -> R (in CMM2).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.Q50*(11)|p.I49M(3)|p.V28_V51del(2)|p.I49I(2)|p.I49T(1)|p.0(1)|p.I49S(1)|p.Q50R(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTACCCACCTGGATCGGCCTCC	0.678000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				81			91		0	0	0.004672	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209040	65209040	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:65209040C>T	uc001xhp.2	+	15	3207	c.3168C>T	c.(3166-3168)ctC>ctT	p.L1056L	PLEKHG3_uc001xhn.1_Silent_p.L879L|PLEKHG3_uc001xho.1_Silent_p.L935L|PLEKHG3_uc010aqh.1_Silent_p.L477L|PLEKHG3_uc001xhq.1_Silent_p.L440L	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	935					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGTACAGCCTCCGGATCAAGA	0.622000														9			4		0	0	0.001168	0	0
PSD	5662	broad.mit.edu	37	10	104174892	104174893	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:104174892_104174893GG>AA	uc001kvg.1	-	3	1378_1379	c.851_852CC>TT	c.(850-852)tcc>tTT	p.S284F	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.S284F	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	284					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGTCTGTCTCGGAGTACTTGGC	0.658000														19			7		0	0	0.004672	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661507	77661507	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:77661507G>A	uc011cbx.2	+	4	3134	c.2181G>A	c.(2179-2181)ggG>ggA	p.G727G	SHROOM3_uc011cbz.1_Silent_p.G551G|SHROOM3_uc003hkf.1_Silent_p.G602G|SHROOM3_uc003hkg.3_Silent_p.G505G	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	727					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCCCGAGGGGAGGACCGGTG	0.672000														38			12		0	0	0.002450	0	0
OR52H1	390067	broad.mit.edu	37	11	5566730	5566730	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:5566730G>A	uc010qzh.2	-	0	24	c.24C>T	c.(22-24)atC>atT	p.I8I	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTGAAAATGATCATGGCAG	0.433000														22			27		0	0	0.001512	0	0
HFE2	148738	broad.mit.edu	37	1	145416753	145416753	+	Silent	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:145416753A>G	uc001eni.2	+	3	1423	c.1098A>G	c.(1096-1098)ttA>ttG	p.L366L	HFE2_uc001enk.2_Silent_p.L253L|HFE2_uc001enj.2_Silent_p.L140L|HFE2_uc001enl.2_Silent_p.L140L|HFE2_uc021oux.1_Silent_p.L140L	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	366					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGATGTTTTAATTTCTGGTG	0.517000														20			14		0	0	0.002450	0	0
PARM1	25849	broad.mit.edu	37	4	75971446	75971446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:75971446G>A	uc003hih.2	+	3	1175	c.922G>A	c.(922-924)Gat>Aat	p.D308N		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	308					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCTCTGTACGATGACTCCTA	0.438000														16			9		0	0	0.006214	0	0
TMEM67	91147	broad.mit.edu	37	8	94798460	94798460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:94798460C>T	uc011lgk.2	+	12	1369	c.1298C>T	c.(1297-1299)tCt>tTt	p.S433F	TMEM67_uc010mat.1_Missense_Mutation_p.S348F|TMEM67_uc010maw.2_Missense_Mutation_p.S139F|TMEM67_uc003yga.4_Missense_Mutation_p.S352F	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	433					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GACAGCAACTCTGGAAAGTGG	0.348000														33			12		0	0	0.004007	0	0
BRCC3	79184	broad.mit.edu	37	X	154348417	154348417	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:154348417C>T	uc004fna.3	+	10	1051	c.943C>T	c.(943-945)Cta>Tta	p.L315L	BRCC3_uc004fnb.3_Silent_p.L290L|BRCC3_uc011mzy.2_Silent_p.L291L	NM_024332	NP_077308	P46736	BRCC3_HUMAN	Homo sapiens BRCA1/BRCA2-containing complex, subunit 3 (BRCC3), transcript variant 1, mRNA.	315					G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	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)					ACTTTCTTCTCTAGAATAAAT	0.403000														16			49		0	0	0.003610	0	0
AGBL5	60509	broad.mit.edu	37	2	27278857	27278858	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:27278857_27278858CC>TT	uc002rie.3	+	6	1433_1434	c.1216_1217CC>TT	c.(1216-1218)cca>TTa	p.P406L	AGBL5_uc002rid.3_Missense_Mutation_p.P406L|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	406					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGATTATGCCACAACAGTCT	0.520000														83			25		0	0	0.004672	0	0
MS4A10	341116	broad.mit.edu	37	11	60559780	60559780	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:60559780T>A	uc001npz.1	+	3	442	c.346T>A	c.(346-348)Tct>Act	p.S116T		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	116						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						GAAGACCTTTTCTAAAACTTA	0.443000														81			29		0	0	0.005524	0	0
TMEM132D	121256	broad.mit.edu	37	12	129694134	129694134	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:129694134C>T	uc009zyl.1	-	4	1702	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	458						integral to membrane				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)		TGCCGTCGTCCTCCACGGAGA	0.567000														11			9		0	0	0.000673	0	0
SRGAP3	9901	broad.mit.edu	37	3	9036042	9036042	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:9036042A>T	uc003brf.1	-	18	3069	c.2393T>A	c.(2392-2394)aTa>aAa	p.I798K	SRGAP3_uc003brg.1_Missense_Mutation_p.I774K	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	798					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTGTACAACTATGTACTGATG	0.562000			T	RAF1	pilocytic astrocytoma									24			12		0	0	0.001855	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882158	228882158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:228882158C>T	uc002vpq.2	-	6	3459	c.3412G>A	c.(3412-3414)Gaa>Aaa	p.E1138K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1138K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1138K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1138						cytoplasm	protein binding	p.M1137I(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTTCATTTTCCATCTGGTTC	0.537000														17			9		0	0	0.006214	0	0
FER1L6	654463	broad.mit.edu	37	8	125047600	125047600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:125047600G>A	uc003yqw.3	+	18	2575	c.2369G>A	c.(2368-2370)aGt>aAt	p.S790N	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	790						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCATGCCAGTGCCATTTTG	0.537000														72			23		0	0	0.004656	0	0
MIR7-2	407044	broad.mit.edu	37	15	89155069	89155069	+	RNA	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:89155069G>A	uc010upm.2	+	0		c.14G>A								Homo sapiens microRNA 7-2 (MIR7-2), microRNA.																		GATACAGAGTGGACCGGCTGG	0.587000														7			7		0	0	0.004482	0	0
STAB2	55576	broad.mit.edu	37	12	104142832	104142833	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:104142832_104142833GG>AA	uc001tjw.3	+	58	6522_6523	c.6336_6337GG>AA	c.(6334-6339)aaggga>aaAAga	p.G2113R	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2113	EGF-like 16.				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						GCTGCCAGAAGGGATACAAAGG	0.589000														24			18		0	0	0.004672	0	0
DCX	1641	broad.mit.edu	37	X	110574251	110574251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:110574251C>T	uc004epd.3	-	4	1242	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	DCX_uc011msv.2_Missense_Mutation_p.G357E|DCX_uc004epe.3_Missense_Mutation_p.G276E|DCX_uc004epf.3_Missense_Mutation_p.G276E|DCX_uc004epg.3_Missense_Mutation_p.G276E	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	357					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TGATGGGTTTCCCTTCATGAC	0.532000														11			34		0	0	0.004878	0	0
CABP7	164633	broad.mit.edu	37	22	30124621	30124621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:30124621G>A	uc003agl.3	+	2	326	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_182527	NP_872333	Q86V35	CABP7_HUMAN	Homo sapiens calcium binding protein 7 (CABP7), mRNA.	86	EF-hand 2.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			TCCACCAGGTGATGGTCAAGT	0.572000														14			16		0	0	0.004990	0	0
SCN4A	6329	broad.mit.edu	37	17	62050038	62050038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:62050038C>T	uc002jds.1	-	0	241	c.164G>A	c.(163-165)cGa>cAa	p.R55Q		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	55					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CAAGTCACTTCGTGGCTTCCG	0.627000														10			11		0	0	0.001368	0	0
CARD11	84433	broad.mit.edu	37	7	2954959	2954959	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:2954959C>T	uc003smv.3	-	20	3085	c.2751G>A	c.(2749-2751)gaG>gaA	p.E917E		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	917					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.G917G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGCGGACCCGCTCGTTGCTGT	0.587000			Mis		DLBCL									25			11		0	0	0.000978	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618596	77618596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:77618596C>T	uc003yau.2	+	1	2660	c.2273C>T	c.(2272-2274)cCg>cTg	p.P758L	ZFHX4_uc003yat.1_Missense_Mutation_p.P758L|ZFHX4_uc003yaw.1_Missense_Mutation_p.P758L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	758						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P758P(1)		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)			ACACCCTCTCCGTCCAAACCC	0.522000										HNSCC(33;0.089)				27			6		0	0	0.001168	0	0
GPR141	353345	broad.mit.edu	37	7	37780295	37780295	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:37780295C>T	uc003tfm.1	+	0	300	c.300C>T	c.(298-300)taC>taT	p.Y100Y	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	100						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCACATGTACCTCACGTTCC	0.463000														33			22		0	0	0.001882	0	0
OR8H2	390151	broad.mit.edu	37	11	55873109	55873109	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:55873109C>T	uc010riy.2	+	0	591	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ACACCGAAATCCTGATATTCA	0.388000										HNSCC(53;0.14)				70			26		0	0	0.003954	0	0
EML3	256364	broad.mit.edu	37	11	62378723	62378723	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:62378723G>A	uc010rly.1	-	2	596	c.288C>T	c.(286-288)tcC>tcT	p.S96S	EML3_uc001ntr.1_Silent_p.S68S|EML3_uc001nts.1_Silent_p.S68S|EML3_uc001ntt.1_5'UTR|EML3_uc001ntu.1_Silent_p.S96S|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.3_5'Flank			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	96						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGGGTCCAGGGGATGACTTGA	0.672000														22			12		0	0	0.001855	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182481	100182481	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:100182481G>A	uc001ygo.3	+	8	852	c.852G>A	c.(850-852)gaG>gaA	p.E284E	CYP46A1_uc001ygp.3_Silent_p.E131E	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	284					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CAGCTGAAGAGGGAGCCCAGG	0.512000														9			10		0	0	0.002450	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40716	40716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrGL000218.1:40716C>T	uc011mfn.2	-	2	303	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	LOC100233156_uc003jah.2_Missense_Mutation_p.V72M					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCCAGGTTCACGGCGTCACAC	0.672000														10			4		0	0	0.000248	0	0
TRPM5	29850	broad.mit.edu	37	11	2436352	2436352	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:2436352G>A	uc010qxl.2	-	9	1488	c.1479_splice	c.e9+1	p.A493_splice	TRPM5_uc001lwm.4_Splice_Site_p.A493_splice|TRPM5_uc009ydn.3_Splice_Site_p.A495_splice	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	493						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCCGCTCACCGCCCTCCTGCG	0.731000														10			10		0	0	0.006214	0	0
DDX60	55601	broad.mit.edu	37	4	169206650	169206650	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:169206650C>T	uc003irp.3	-	11	1632	c.1340_splice	c.e11-1	p.D447_splice		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	447							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTGGAGCTGTCTGTAAACAAA	0.294000														11			9		0	0	0.004482	0	0
RNF213	57674	broad.mit.edu	37	17	78321753	78321753	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:78321753C>T	uc002jyh.2	+	29	9908	c.9765C>T	c.(9763-9765)ttC>ttT	p.F3255F	RNF213_uc021uen.1_Silent_p.F3206F	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CACATCATTTCCAGAAGAGGC	0.547000														17			12		0	0	0.000978	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489377	133489377	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:133489377G>A	uc002ttp.3	-	16	5750	c.5376C>T	c.(5374-5376)tcC>tcT	p.S1792S	NCKAP5_uc002ttq.3_Silent_p.S473S	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1792							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGATGGGGTCGGATGTGGAAT	0.547000														37			25		0	0	0.005443	0	0
PLG	5340	broad.mit.edu	37	6	161152886	161152886	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:161152886C>T	uc003qtm.4	+	11	1660	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	516	Kringle 5.				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)	ACAGCATTTTCACTCCAGAGA	0.512000														14			18		0	0	0.001882	0	0
OR2B11	127623	broad.mit.edu	37	1	247615041	247615041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:247615041C>T	uc010pyx.2	-	0	244	c.244G>A	c.(244-246)Gtc>Atc	p.V82I		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ATCTGAGGGACTGTCGTGGTG	0.562000														44			24		0	0	0.003330	0	0
CHD5	26038	broad.mit.edu	37	1	6203991	6203991	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:6203991C>T	uc001amb.2	-	13	2046	c.1935_splice	c.e13-1	p.R645_splice	CHD5_uc001ama.2_Splice_Site|CHD5_uc001amc.1_Splice_Site	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	645	Chromo 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCATCAGCTCCCTGGGAAACG	0.652000														44			29		0	0	0.001512	0	0
AGAP1	116987	broad.mit.edu	37	2	236957790	236957790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:236957790G>A	uc002vvs.3	+	15	2577	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	AGAP1_uc002vvt.3_Missense_Mutation_p.R607Q	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	660	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CACCTTTCCCGAGTCCGATCT	0.572000														56			24		0	0	0.004656	0	0
COL6A5	256076	broad.mit.edu	37	3	130095498	130095498	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:130095498G>A	uc010htj.1	+	2	980	c.486G>A	c.(484-486)gtG>gtA	p.V162V	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	162	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AAGACGGGGTGAAAATTATCT	0.507000														7			5		0	0	0.001168	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400739	47400739	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:47400739G>A	uc001cqp.4	-	5	774	c.723C>T	c.(721-723)acC>acT	p.T241T	CYP4A11_uc001cqq.2_Silent_p.T241T|CYP4A11_uc010omm.1_Intron	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	241					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.D240N(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGCTGTAGATGGTGTCATTCT	0.537000														60			26		0	0	0.003954	0	0
OR2L8	391190	broad.mit.edu	37	1	248113064	248113064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:248113064G>A	uc001idt.1	+	0	905	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCCCTGACACGAGTGAGTCAG	0.473000														18			14		0	0	0.004990	0	0
OR1L3	26735	broad.mit.edu	37	9	125437507	125437507	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:125437507C>T	uc011lzb.2	+	0	99	c.99C>T	c.(97-99)atC>atT	p.I33I		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TCTTTCTTATCATATACCTGG	0.443000														68			29		0	0	0.007291	0	0
ABCA8	10351	broad.mit.edu	37	17	66871529	66871529	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:66871529G>A	uc002jhq.3	-	36	4843	c.4503C>T	c.(4501-4503)tcC>tcT	p.S1501S	ABCA8_uc002jhp.3_Silent_p.S1461S|ABCA8_uc010wqq.2_Silent_p.S1496S	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1461						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R1501Q(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGTGTTGGATGGAACCGATAC	0.443000														36			11		0	0	0.000978	0	0
TRRAP	8295	broad.mit.edu	37	7	98592250	98592251	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:98592250_98592251CC>TT	uc003upp.3	+	65	10255_10256	c.10046_10047CC>TT	c.(10045-10047)tcc>tTT	p.S3349F	TRRAP_uc011kis.2_Missense_Mutation_p.S3320F|TRRAP_uc003upr.3_Missense_Mutation_p.S3055F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3349					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAATGTTACTCCGTGGCGTTTG	0.540000														88			40		0	0	0.004672	0	0
NAA40	79829	broad.mit.edu	37	11	63714427	63714427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:63714427G>A	uc009yoz.3	+	2	234	c.107G>A	c.(106-108)gGa>gAa	p.G36E	NAA40_uc010rmw.2_Intron|NAA40_uc010rmx.2_Missense_Mutation_p.G15E	NM_024771	NP_079047	Q86UY6	NAA40_HUMAN	Homo sapiens N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) (NAA40), mRNA.	36							N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						CCACAGCTTGGAGACCCTCTG	0.512000														43			24		0	0	0.002096	0	0
TPTE2	93492	broad.mit.edu	37	13	19997240	19997240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:19997240G>A	uc001umd.3	-	20	1742	c.1531C>T	c.(1531-1533)Cca>Tca	p.P511S	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.P400S|TPTE2_uc001ume.3_Missense_Mutation_p.P434S|TPTE2_uc009zzm.3_Missense_Mutation_p.P182S|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.P182S	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	511	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GCAAATTCTGGTGGATAAATT	0.363000														18			18		0	0	0.001882	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192172	125192172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:125192172G>A	uc010flu.3	+	4	1005	c.641G>A	c.(640-642)gGa>gAa	p.G214E	CNTNAP5_uc002tno.3_Missense_Mutation_p.G214E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	214	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGCATGCAAGGAGATGGGGTC	0.512000														30			14		0	0	0.002450	0	0
MPDZ	8777	broad.mit.edu	37	9	13150678	13150678	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:13150678G>A	uc010mia.1	-	23	3519	c.3462C>T	c.(3460-3462)ctC>ctT	p.L1154L	MPDZ_uc010mhx.3_Silent_p.L46L|MPDZ_uc011lmm.2_Silent_p.L46L|MPDZ_uc003zkz.4_Intron|MPDZ_uc010mhz.3_Silent_p.L1154L|MPDZ_uc011lmn.2_Silent_p.L1154L|MPDZ_uc010mhy.3_Silent_p.L1154L|MPDZ_uc003zlb.4_Silent_p.L1154L	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1154	PDZ 7.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.E1153D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTTCTCTCCAGAGTTCCACCC	0.388000														7			5		0	0	0.000602	0	0
MDC1	9656	broad.mit.edu	37	6	30680248	30680248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:30680248G>A	uc003nrg.4	-	4	1911	c.1471C>T	c.(1471-1473)Cct>Tct	p.P491S	MDC1_uc003nrf.4_Missense_Mutation_p.P145S|MDC1_uc011dmp.1_Missense_Mutation_p.P363S|MDC1_uc003nrh.1_Missense_Mutation_p.P363S|MDC1_uc003nri.2_Missense_Mutation_p.P491S	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	491	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCCCCAAAAGGAGGTTGGTCC	0.502000								Other conserved DNA damage response genes						39			42		0	0	0.003214	0	0
FNBP1L	54874	broad.mit.edu	37	1	94012481	94012481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:94012481G>A	uc010otk.2	+	12	1508	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	FNBP1L_uc001dpv.3_Missense_Mutation_p.E395K|FNBP1L_uc001dpw.3_Missense_Mutation_p.E395K|FNBP1L_uc010otl.2_Missense_Mutation_p.E23K	NM_001164473	NP_001157945	Q5T0N5	FBP1L_HUMAN	Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA.	453	Interaction with CDC42.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TAAATTAGCAGAGACCATGAA	0.358000														10			10		0	0	0.001368	0	0
TP53	7157	broad.mit.edu	37	17	7578257	7578257	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:7578257C>A	uc002gim.2	-	5	786	c.592G>T	c.(592-594)Gaa>Taa	p.E198*	TP53_uc002gig.1_Nonsense_Mutation_p.E198*|TP53_uc002gih.3_Nonsense_Mutation_p.E198*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.E66*|TP53_uc010cnf.1_Nonsense_Mutation_p.E66*|TP53_uc002gii.1_Nonsense_Mutation_p.E66*|TP53_uc010cni.1_Nonsense_Mutation_p.E198*|TP53_uc010cnh.1_Nonsense_Mutation_p.E198*|TP53_uc002gij.2_Nonsense_Mutation_p.E198*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.E105*|TP53_uc002gio.2_Nonsense_Mutation_p.E66*|TP53_uc010vug.2_Nonsense_Mutation_p.E159*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	198	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E198*(48)|p.V197G(14)|p.V197M(11)|p.E198K(10)|p.V197E(8)|p.0?(8)|p.?(5)|p.V197L(4)|p.P191_E198>Q(4)|p.E198fs*11(4)|p.E198Q(4)|p.A189_V197delAPPQHLIRV(4)|p.E66*(3)|p.E105*(3)|p.V197V(2)|p.E198fs*7(2)|p.I195_G199delIRVEG(2)|p.E198fs*49(2)|p.K164_P219del(1)|p.V197A(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.E198G(1)|p.P98_E105>Q(1)|p.E198_L201>V(1)|p.E198_G199ins21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AAATTTCCTTCCACTCGGATA	0.547000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				8			15		6.49762e-13	8.13368e-13	0.006122	1	0
ICT1	3396	broad.mit.edu	37	17	73015830	73015831	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:73015830_73015831CC>TT	uc002jmm.3	+	2	261_262	c.259_260CC>TT	c.(259-261)cct>TTt	p.P87F		NM_001545	NP_001536	Q14197	ICT1_HUMAN	Homo sapiens immature colon carcinoma transcript 1 (ICT1), mRNA.	87					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GAGTAGTGGTCCTGGGGGGCAG	0.436000														15			18		0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9061528	9061528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:9061528G>A	uc002mkp.3	-	2	26122	c.25918C>T	c.(25918-25920)Cat>Tat	p.H8640Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8642	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						GAGGAGGGATGAATTTTCTCT	0.433000														31			29		0	0	0.001512	0	0
PDE1C	5137	broad.mit.edu	37	7	31867980	31867980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:31867980C>T	uc003tcm.2	-	11	1672	c.1211G>A	c.(1210-1212)aGa>aAa	p.R404K	PDE1C_uc003tcn.1_Missense_Mutation_p.R404K|PDE1C_uc003tco.2_Missense_Mutation_p.R464K|PDE1C_uc003tcr.3_Missense_Mutation_p.R404K|PDE1C_uc003tcs.3_Missense_Mutation_p.R404K	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	404	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTCTGCTTCTCTGTCACCCTG	0.488000														19			10		0	0	0.000673	0	0
NCAM1	4684	broad.mit.edu	37	11	113103520	113103520	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:113103520C>T	uc021qqp.1	+	12	1950	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	NCAM1_uc001pnp.3_Silent_p.F490F|NCAM1_uc021qqo.1_Silent_p.F490F|NCAM1_uc001pnq.3_Silent_p.F500F|NCAM1_uc001pnr.3_Silent_p.F490F	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	502	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCTTGGAATTCATCCTTGTTC	0.498000														11			15		0	0	0.007413	0	0
MAGI3	260425	broad.mit.edu	37	1	114216003	114216003	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:114216003C>T	uc001edk.3	+	18	3286	c.3105C>T	c.(3103-3105)ctC>ctT	p.L1035L	MAGI3_uc001edh.3_Silent_p.L1060L|MAGI3_uc001edi.4_Silent_p.L1035L|MAGI3_uc010owm.2_Silent_p.L1060L|MAGI3_uc001edj.3_Silent_p.L756L	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	1060					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATTCAGCCTCCGAGGGGGGA	0.493000														126			31		0	0	0.002836	0	0
CLEC5A	23601	broad.mit.edu	37	7	141631613	141631613	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:141631613T>C	uc003vwv.1	-	5	556	c.359A>G	c.(358-360)gAc>gGc	p.D120G	CLEC5A_uc011krm.1_Missense_Mutation_p.D97G|CLEC5A_uc003vww.1_Missense_Mutation_p.D119G|CLEC5A_uc010lnq.1_Missense_Mutation_p.D97G|CLEC5A_uc010lnr.1_Non-coding_Transcript	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	120	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					ATCAGTTATGTCCTGAAGAAA	0.383000														43			21		0	0	0.001523	0	0
ARID5B	84159	broad.mit.edu	37	10	63661961	63661961	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:63661961A>T	uc001jlt.2	+	1	521	c.65A>T	c.(64-66)tAc>tTc	p.Y22F	ARID5B_uc010qil.2_Missense_Mutation_p.Y22F	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	22					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TACATTTTCTACAAGGCTTTT	0.453000														49			24		0	0	0.002299	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169132	50169132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:50169132C>T	uc002ppa.3	+	0	734	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	IRF3_uc002poy.2_5'Flank|IRF3_uc021uxp.1_Splice_Site|IRF3_uc021uxq.1_Splice_Site|IRF3_uc002pot.2_Splice_Site|IRF3_uc021uxr.1_Splice_Site|IRF3_uc021uxs.1_Splice_Site|IRF3_uc002pow.3_Splice_Site|IRF3_uc021uxo.1_Splice_Site|IRF3_uc002pou.3_Splice_Site|IRF3_uc010end.2_Splice_Site|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Missense_Mutation_p.R18W	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	18					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTGGGTTTCCGGCCAGAGGC	0.577000														47			27		0	0	0.004656	0	0
LRFN2	57497	broad.mit.edu	37	6	40360102	40360102	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:40360102C>T	uc003oph.1	-	2	2415	c.1950G>A	c.(1948-1950)aaG>aaA	p.K650K		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	650						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)					CAAGGCTGGGCTTGGGGCGCG	0.706000														1			3		0	0	0.004672	0	0
ZNF611	81856	broad.mit.edu	37	19	53209551	53209551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:53209551G>A	uc002pzz.3	-	6	1074	c.757C>T	c.(757-759)Cat>Tat	p.H253Y	ZNF611_uc010eqc.3_Missense_Mutation_p.H183Y|ZNF611_uc010ydo.2_Missense_Mutation_p.H183Y|ZNF611_uc010ydp.2_Missense_Mutation_p.H253Y|ZNF611_uc010ydq.2_Missense_Mutation_p.H253Y|ZNF611_uc010ydr.2_Missense_Mutation_p.H184Y|ZNF611_uc002qaa.4_Missense_Mutation_p.H183Y|ZNF611_uc021uyy.1_Missense_Mutation_p.H184Y	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P252L(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCTCCTAAATGGGGTATCTGG	0.378000														94			14		0	0	0.004990	0	0
MTOR	2475	broad.mit.edu	37	1	11300598	11300598	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:11300598G>A	uc001asd.3	-	10	1669	c.1548C>T	c.(1546-1548)gcC>gcT	p.A516A		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	516					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTGCAGTGAGGGCAGGGCTGA	0.517000														43			17		0	0	0.001216	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627290	108627290	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:108627290G>A	uc002tdv.3	+	8	1992	c.1716G>A	c.(1714-1716)ggG>ggA	p.G572G	SLC5A7_uc010ywm.2_Silent_p.G325G|SLC5A7_uc010fjj.3_Silent_p.G572G|SLC5A7_uc010ywn.2_Silent_p.G459G	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	572					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.E571K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GTCCAGAAGGGTCTGGGACTG	0.433000														14			8		0	0	0.004482	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100564765	100564765	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:100564765C>T	uc021rcm.1	-	2		c.233_splice	c.e2-1		GOLGA2P5_uc001tgz.4_Splice_Site					Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 1, non-coding RNA.																		TCTTTCTTTTCCTATAGGAAG	0.512000														39			26		0	0	0.001512	0	0
LRP2	4036	broad.mit.edu	37	2	170135925	170135925	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:170135925T>C	uc002ues.3	-	11	1735	c.1522A>G	c.(1522-1524)Aac>Gac	p.N508D	LRP2_uc010zdf.1_Missense_Mutation_p.N508D	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	508					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGCCCCAAGTTTTCAGTTATA	0.398000														63			35		0	0	0.006230	0	0
NAT10	55226	broad.mit.edu	37	11	34152950	34152950	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:34152950C>T	uc001mvk.3	+	13	1636	c.1392C>T	c.(1390-1392)tcC>tcT	p.S464S	NAT10_uc010ren.2_Silent_p.S392S	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	464						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ATGAGGTTTCCCTCCAGGAGT	0.463000														16			18		0	0	0.001523	0	0
MAPK10	5602	broad.mit.edu	37	4	87115524	87115524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:87115524C>T	uc003hps.3	-	2	717	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	MAPK10_uc010ikg.3_5'UTR|MAPK10_uc003hpr.3_5'UTR|MAPK10_uc003hpt.3_Missense_Mutation_p.E11K|MAPK10_uc003hpu.3_Missense_Mutation_p.E11K|MAPK10_uc003hpv.3_5'UTR|MAPK10_uc010ikh.1_Non-coding_Transcript|BC038746_uc003hpw.3_Intron	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	11					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|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|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AATGTTGGTTCACTGCAGTAG	0.333000														120			45		0	0	0.003610	0	0
AKR1B1	231	broad.mit.edu	37	7	134134532	134134532	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:134134532G>A	uc003vrp.1	-	3	443	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_001628	NP_001619	P15121	ALDR_HUMAN	Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1), mRNA.	123					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CATCCAATGGGAAAAATTCCT	0.468000														81			42		0	0	0.003610	0	0
SCAP	22937	broad.mit.edu	37	3	47460943	47460943	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:47460943C>T	uc003crh.1	-	12	2070	c.1815G>A	c.(1813-1815)gaG>gaA	p.E605E	SCAP_uc011baz.1_Silent_p.E350E|SCAP_uc003crg.2_Silent_p.E213E	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	605					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CATGGACAACCTCTGCTGGAC	0.602000														42			19		0	0	0.001882	0	0
ST18	9705	broad.mit.edu	37	8	53076651	53076651	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:53076651C>T	uc003xqz.2	-	8	1452	c.1296_splice	c.e8-1	p.S432_splice	ST18_uc011ldq.1_Splice_Site_p.S79_splice|ST18_uc011ldr.1_Splice_Site_p.S397_splice|ST18_uc011lds.1_Splice_Site_p.S337_splice|ST18_uc003xra.2_Splice_Site_p.S432_splice|ST18_uc003xrb.2_Splice_Site_p.S432_splice	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	432						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ACCAGAAAGACTGTTTAAAAA	0.408000														96			20		0	0	0.001216	0	0
SPATA20	64847	broad.mit.edu	37	17	48631746	48631746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:48631746C>T	uc002ird.3	+	14	2233	c.2092C>T	c.(2092-2094)Cgt>Tgt	p.R698C	SPATA20_uc002irc.3_Missense_Mutation_p.R349C|SPATA20_uc002ire.3_Missense_Mutation_p.R638C|SPATA20_uc002irf.3_Missense_Mutation_p.R682C|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	682					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	p.R698H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GCGCATGCGTCGTGTCCCGGT	0.657000														76			32		0	0	0.005524	0	0
ACTL6B	51412	broad.mit.edu	37	7	100245114	100245115	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:100245114_100245115CC>TT	uc003uvy.3	-	7	818_819	c.711_712GG>AA	c.(709-714)aaggag>aaAAag	p.E238K	ACTL6B_uc003uvz.3_Non-coding_Transcript	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	238					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGTAGCTTCTCCTTCTTCTTCC	0.609000														50			21		0	0	0.004672	0	0
ILKAP	80895	broad.mit.edu	37	2	239079622	239079623	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:239079622_239079623GG>AA	uc002vxv.3	-	10	1129_1130	c.999_1000CC>TT	c.(997-1002)acccca>acTTca	p.P334S	ILKAP_uc010zns.2_Missense_Mutation_p.P266S|ILKAP_uc002vxw.3_Missense_Mutation_p.P214S|ILKAP_uc021vyt.1_Non-coding_Transcript|ILKAP_uc021vyu.1_Missense_Mutation_p.P216S	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	Homo sapiens integrin-linked kinase-associated serine/threonine phosphatase (ILKAP), mRNA.	334	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GCTTCTTCTGGGGTAAAGACCT	0.441000														71			43		0	0	0.004672	0	0
ITIH1	3697	broad.mit.edu	37	3	52814382	52814383	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:52814382_52814383CC>TT	uc003dfs.3	+	5	701_702	c.671_672CC>TT	c.(670-672)tcc>tTT	p.S224F	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.S82F|ITIH1_uc021wzg.1_5'UTR|ITIH1_uc021wzh.1_5'UTR|ITIH1_uc003dft.3_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	224					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ATCAAGAAGTCCTTCTCAGGAA	0.554000														15			10		0	0	0.004672	0	0
SLC12A4	6560	broad.mit.edu	37	16	67980933	67980933	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:67980933G>A	uc010vkj.1	-	15	2194	c.2154C>T	c.(2152-2154)tcC>tcT	p.S718S	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Silent_p.S710S|SLC12A4_uc010vkh.1_Silent_p.S685S|SLC12A4_uc002euz.2_Silent_p.S716S|SLC12A4_uc010vki.1_Silent_p.S716S|SLC12A4_uc002eva.2_Silent_p.S716S|SLC12A4_uc010cev.1_Non-coding_Transcript|SLC12A4_uc002evb.2_Non-coding_Transcript	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	716					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCTTGAGCTGGGAGGCGAAGG	0.652000														13			7		0	0	0.003080	0	0
SELS	55829	broad.mit.edu	37	15	101814870	101814870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:101814870C>T	uc021sxu.1	-	3	413	c.335G>A	c.(334-336)aGg>aAg	p.R112K	SELS_uc021sxv.1_Missense_Mutation_p.R112K	NM_203472		Q9BQE4	SELS_HUMAN	Homo sapiens selenoprotein S (SELS), transcript variant 1, mRNA.	112					ER overload response|ER-associated protein catabolic process|anti-apoptosis|cell redox homeostasis|cellular response to insulin stimulus|cellular response to lipopolysaccharide|cellular response to oxidative stress|endoplasmic reticulum unfolded protein response|negative regulation of acute inflammatory response to antigenic stimulus|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of interleukin-6 production|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of tumor necrosis factor production|regulation of gluconeogenesis|regulation of nitric oxide metabolic process|response to glucose stimulus|response to redox state|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane|low-density lipoprotein particle|microsome|plasma membrane|very-low-density lipoprotein particle	antioxidant activity|enzyme binding|receptor activity|selenium binding					Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTCTGTCTCCTTTTTTCTTC	0.408000														14			8		0	0	0.006214	0	0
ZNF792	126375	broad.mit.edu	37	19	35449497	35449498	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:35449497_35449498GG>AA	uc002nxh.1	-	3	1648_1649	c.1261_1262CC>TT	c.(1261-1263)cct>TTt	p.P421F		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACACTTGTAAGGTCTTTCTCCA	0.480000														32			11		0	0	0.004672	0	0
ANXA5	308	broad.mit.edu	37	4	122593728	122593728	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:122593728G>A	uc003idu.4	-	7	655	c.585C>T	c.(583-585)atC>atT	p.I195I	ANXA5_uc003idv.4_Silent_p.I195I	NM_001154	NP_001145	P08758	ANXA5_HUMAN	Homo sapiens annexin A5 (ANXA5), mRNA.	195					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						CAAAGATGGTGATAAACTTTT	0.373000														33			9		0	0	0.006214	0	0
MDS2	259283	broad.mit.edu	37	1	23908083	23908083	+	RNA	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:23908083G>A	uc001bhi.3	+	0		c.99G>A								Homo sapiens myelodysplastic syndrome 2 translocation associated (MDS2), non-coding RNA.											breast(1)|ovary(2)	3						CCTTGGGAGGGACTGTGAAGA	0.592000			T	ETV6	MDS									7			5		0	0	0.001168	0	0
ACSM1	116285	broad.mit.edu	37	16	20702490	20702490	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:20702490G>A	uc002dhm.1	-	0	89	c.21C>T	c.(19-21)ttC>ttT	p.F7F	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.F7F	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	7					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						AGAGGGTCCGGAACCTCATTA	0.532000														74			33		0	0	0.004289	0	0
PTPRT	11122	broad.mit.edu	37	20	40713343	40713343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:40713343C>T	uc002xkg.3	-	28	4299	c.4115G>A	c.(4114-4116)gGa>gAa	p.G1372E	PTPRT_uc010ggj.3_Missense_Mutation_p.G1391E|PTPRT_uc010ggi.3_Missense_Mutation_p.G575E	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1372	Tyrosine-protein phosphatase 2.				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.G1394E(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)				CACAGTACGTCCCTCCCTCCC	0.612000														10			6		0	0	0.003080	0	0
OR10H1	26539	broad.mit.edu	37	19	15918182	15918182	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:15918182G>A	uc002nbq.2	-	0	755	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TGGCGGCCACGATGAAGGCAT	0.577000														27			27		0	0	0.006999	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879294	3879294	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:3879294A>C	uc002kmf.3	-	3	1302	c.775T>G	c.(775-777)Tgc>Ggc	p.C259G	DLGAP1_uc010wyz.2_Missense_Mutation_p.C259G|DLGAP1_uc002kmk.2_Missense_Mutation_p.C259G|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	259					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.C259Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CAGGTGGAGCACTTGACGTCG	0.662000														35			13		0	0	0.002450	0	0
INPP5D	3635	broad.mit.edu	37	2	234072371	234072371	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:234072371A>C	uc010zmo.2	+	10	1325	c.1172A>C	c.(1171-1173)aAg>aCg	p.K391T	INPP5D_uc010zmp.2_Missense_Mutation_p.K390T	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	420					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCCCCTCCCAAGAAGATCACG	0.537000														49			39		0	0	0.003610	0	0
CLCN1	1180	broad.mit.edu	37	7	143029561	143029561	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:143029561T>A	uc003wcr.1	+	10	1303	c.1216T>A	c.(1216-1218)Ttc>Atc	p.F406I	CLCN1_uc011ktc.1_Missense_Mutation_p.F68I	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	406					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTCATTCACCTTCCCACCAGG	0.483000														45			24		0	0	0.007291	0	0
KRT5	3852	broad.mit.edu	37	12	52914057	52914057	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:52914057G>A	uc001san.3	-	0	187	c.24C>T	c.(22-24)tcC>tcT	p.S8S	KRT5_uc009zmh.3_Silent_p.S8S	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	8	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCTCCGGAAGGACACACTTG	0.637000														1			7		0	0	0.006214	0	0
SCG3	29106	broad.mit.edu	37	15	51993421	51993421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:51993421G>A	uc002abh.3	+	9	1590	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E	SCG3_uc010ufz.2_Missense_Mutation_p.G164E	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	396					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AACCCAGGAGGAAAGACAGAT	0.433000														23			9		0	0	0.006214	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428624	128428624	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:128428624G>A	uc003ysf.3	+	0	768	c.513G>A	c.(511-513)ctG>ctA	p.L171L	LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_5'Flank	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA.	171	POU-specific.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						GGCTCATCCTGGGGGTTCTAT	0.522000														10			6		0	0	0.001168	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145015920	145015920	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:145015920G>A	uc001elx.4	-	2	551	c.168C>T	c.(166-168)tcC>tcT	p.S56S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elm.4_5'UTR|PDE4DIP_uc001eln.4_Silent_p.S56S|PDE4DIP_uc001elo.3_Silent_p.S127S|PDE4DIP_uc001emh.3_Silent_p.S127S|BX647792_uc001emj.3_Intron	NM_001198832	NP_001185761	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 8, mRNA.	0					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGCTCTCAAGGAATATGTCT	0.453000			T	PDGFRB	MPD									441			41		0	0	0.002222	0	0
MUC16	94025	broad.mit.edu	37	19	9070177	9070177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:9070177C>T	uc002mkp.3	-	2	17473	c.17269G>A	c.(17269-17271)Gat>Aat	p.D5757N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5759	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						ACACTTGTATCCCCCATGGCG	0.468000														55			34		0	0	0.001951	0	0
ACPT	93650	broad.mit.edu	37	19	51297146	51297146	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:51297146G>A	uc002pta.1	+	8	779	c.779_splice	c.e8-1	p.G260_splice		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	Homo sapiens acid phosphatase, testicular (ACPT), mRNA.	260						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CATCCTCAGGGATCCTGCTGA	0.592000														83			46		0	0	0.003610	0	0
NEDD4L	23327	broad.mit.edu	37	18	56063468	56063468	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:56063468G>A	uc002lgy.3	+	30	3178	c.2895G>A	c.(2893-2895)gtG>gtA	p.V965V	NEDD4L_uc002lgz.3_Silent_p.V901V|NEDD4L_uc002lgx.3_Silent_p.V945V|NEDD4L_uc010xee.1_Silent_p.V844V|NEDD4L_uc002lhc.2_Silent_p.V957V|NEDD4L_uc002lhd.2_Silent_p.V844V|NEDD4L_uc002lhb.2_Silent_p.V824V|NEDD4L_uc002lhe.2_Silent_p.V937V|NEDD4L_uc002lhf.3_Silent_p.V824V|NEDD4L_uc002lhg.3_Silent_p.V844V|NEDD4L_uc002lhh.2_Silent_p.V740V	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	965	HECT.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TCATGGCCGTGGAAAATGCTC	0.438000														7			7		0	0	0.001984	0	0
HACL1	26061	broad.mit.edu	37	3	15604946	15604947	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:15604946_15604947GG>AA	uc003caf.3	-	15	1782_1783	c.1622_1623CC>TT	c.(1621-1623)tcc>tTT	p.S541F	HACL1_uc011avr.1_Non-coding_Transcript|HACL1_uc010hep.3_Missense_Mutation_p.S300F|HACL1_uc011avs.2_Missense_Mutation_p.S514F|HACL1_uc011avt.2_Missense_Mutation_p.S481F|HACL1_uc003cag.3_Missense_Mutation_p.S185F|HACL1_uc011avu.2_Missense_Mutation_p.S459F	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	Homo sapiens 2-hydroxyacyl-CoA lyase 1 (HACL1), mRNA.	541					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TCTGCCTCAGGGATTTTTGGAG	0.446000														12			13		0	0	0.004672	0	0
STEAP4	79689	broad.mit.edu	37	7	87912231	87912231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:87912231G>A	uc022agz.1	-	3	932	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	STEAP4_uc003ujs.3_Missense_Mutation_p.R237C|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	237					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATAGCCATACGAAATGTATTA	0.363000														36			16		0	0	0.006122	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38133953	38133953	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:38133953C>T	uc003xli.3	-	22	4451	c.3933G>A	c.(3931-3933)aaG>aaA	p.K1311K	WHSC1L1_uc011lbm.2_Silent_p.K1300K|WHSC1L1_uc010lwe.3_Silent_p.K1262K|WHSC1L1_uc003xlh.3_Silent_p.K90K	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	1311					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTGTTTTGATCTTTCGTCTCT	0.403000			T	NUP98	AML									3			8		0	0	0.004482	0	0
POTEG	404785	broad.mit.edu	37	14	19573136	19573136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:19573136G>A	uc001vuz.1	+	7	1286	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	412										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TAAGGGTGGTGATAGAAAGGT	0.323000														45			5		0	0	0.003080	0	0
SUPT6H	6830	broad.mit.edu	37	17	27010010	27010011	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:27010010_27010011CC>TT	uc010crt.3	+	15	1970_1971	c.1778_1779CC>TT	c.(1777-1779)gcc>gTT	p.A593V	SUPT6H_uc002hby.3_Missense_Mutation_p.A593V	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	593					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)					TACATGGTAGCCCTGCAGATTG	0.559000														13			7		0	0	0.004672	0	0
C8orf4	56892	broad.mit.edu	37	8	40011065	40011065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:40011065G>A	uc003xnq.2	+	0	79	c.14G>A	c.(13-15)cGa>cAa	p.R5Q		NM_020130	NP_064515	Q9NR00	CH004_HUMAN	Homo sapiens chromosome 8 open reading frame 4 (C8orf4), mRNA.	5					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		AAAGCAAAGCGAAGCCACCAA	0.517000														8			13		0	0	0.002450	0	0
IKBKAP	8518	broad.mit.edu	37	9	111673345	111673345	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:111673345C>T	uc004bdm.4	-	11	1825	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K	IKBKAP_uc004bdl.3_Silent_p.K86K|IKBKAP_uc011lwc.2_Silent_p.K321K|IKBKAP_uc010mtq.3_Silent_p.K86K	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	435					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGTCATTACTCTTTTGAGGGT	0.443000														38			25		0	0	0.006320	0	0
TRPM4	54795	broad.mit.edu	37	19	49671637	49671637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:49671637C>T	uc002pmw.3	+	4	677	c.569C>T	c.(568-570)cCc>cTc	p.P190L	TRPM4_uc010emu.3_Missense_Mutation_p.P190L|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Missense_Mutation_p.P16L|TRPM4_uc010emv.3_Intron|TRPM4_uc010yal.2_Intron	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	190					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)		GGTGTGGCCCCCTGGGGTGTG	0.647000														41			17		0	0	0.004990	0	0
ABAT	18	broad.mit.edu	37	16	8870231	8870231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:8870231G>A	uc002czc.4	+	13	1319	c.1153G>A	c.(1153-1155)Gac>Aac	p.D385N	ABAT_uc002czd.4_Missense_Mutation_p.D385N|ABAT_uc010buh.3_Missense_Mutation_p.D327N|ABAT_uc010bui.3_Missense_Mutation_p.D385N	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	385					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CTGGCTGGGGGACCCGTCCAA	0.582000														26			27		0	0	0.001512	0	0
FAM135B	51059	broad.mit.edu	37	8	139160883	139160883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:139160883C>T	uc003yuy.3	-	13	3499	c.3328G>A	c.(3328-3330)Gga>Aga	p.G1110R	FAM135B_uc003yux.3_Missense_Mutation_p.G1011R|FAM135B_uc003yuz.3_Intron|FAM135B_uc003yva.3_Missense_Mutation_p.G672R|FAM135B_uc003yvb.3_Intron	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1110										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)			TACAGAAATCCTTCAATCTTC	0.358000										HNSCC(54;0.14)				20			9		0	0	0.000673	0	0
ZADH2	284273	broad.mit.edu	37	18	72914262	72914262	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:72914262A>T	uc002llx.3	-	1	511	c.243T>A	c.(241-243)taT>taA	p.Y81*	ZADH2_uc010dqv.3_5'UTR	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	Homo sapiens zinc binding alcohol dehydrogenase domain containing 2 (ZADH2), mRNA.	81						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GGCCTGCTGAATAGTTGATGT	0.443000														13			14		0	0	0.001855	0	0
OR2C3	81472	broad.mit.edu	37	1	247695288	247695288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:247695288C>T	uc021pmb.1	-	0	526	c.526G>A	c.(526-528)Gac>Aac	p.D176N	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.D176N	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AAGAAGTGGTCGATGCAATTG	0.552000														8			11		0	0	0.000978	0	0
OR10H3	26532	broad.mit.edu	37	19	15852473	15852473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:15852473C>T	uc010xoq.2	+	0	271	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	91					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						CTTCACCCATCGTTCCATCAC	0.498000														240			67		0	0	0.003610	0	0
ZNF180	7733	broad.mit.edu	37	19	44983505	44983505	+	Missense_Mutation	SNP	G	A	A	rs138817761		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:44983505G>A	uc002ozf.4	-	3	611	c.329C>T	c.(328-330)tCt>tTt	p.S110F	ZNF180_uc002ozh.4_5'UTR|ZNF180_uc002ozi.4_Missense_Mutation_p.S83F|ZNF180_uc002ozg.4_Missense_Mutation_p.S109F|ZNF180_uc010ejm.3_Missense_Mutation_p.S85F	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	110	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTTACCCCAAGAGACTAGGTC	0.463000														48			20		0	0	0.002780	0	0
DSC2	1824	broad.mit.edu	37	18	28659828	28659828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:28659828G>A	uc002kwl.4	-	10	2102	c.1648C>T	c.(1648-1650)Ctt>Ttt	p.L550F	DSC2_uc002kwk.4_Missense_Mutation_p.L550F	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	550	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCTGATGCAAGGACTGTAATA	0.378000														57			21		0	0	0.002299	0	0
CARS2	79587	broad.mit.edu	37	13	111303383	111303383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:111303383G>A	uc001vrd.2	-	9	1092	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	CARS2_uc010tjm.1_Non-coding_Transcript	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	Homo sapiens cysteinyl-tRNA synthetase 2, mitochondrial (putative) (CARS2), nuclear gene encoding mitochondrial protein, mRNA.	351					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CGGCTCACCTGAGCGGTAGCT	0.562000														37			22		0	0	0.002299	0	0
ZNF142	7701	broad.mit.edu	37	2	219508735	219508735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:219508735G>A	uc002vin.3	-	7	2940	c.2504C>T	c.(2503-2505)gCc>gTc	p.A835V	ZNF142_uc002vil.3_Missense_Mutation_p.A796V|ZNF142_uc010fvt.3_Missense_Mutation_p.A672V|ZNF142_uc002vim.3_Missense_Mutation_p.A672V	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCAGCGGAAGGCTCGCCCCTC	0.607000														77			29		0	0	0.006320	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85515612	85515612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:85515612G>A	uc001tac.3	+	15	3626	c.3515G>A	c.(3514-3516)cGa>cAa	p.R1172Q	LRRIQ1_uc021rbo.1_Missense_Mutation_p.R1050Q	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1172										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCTCAGATTCGAGAATTCAAC	0.343000														27			15		0	0	0.006122	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130341230	130341230	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:130341230G>T	uc010scd.2	+	6	2030	c.2030G>T	c.(2029-2031)gGa>gTa	p.G677V		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	677	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G676E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTGTGTGGGGGAGACAATAAG	0.572000														24			12		4.14922e-12	5.18281e-12	0.004007	1	0
CHD5	26038	broad.mit.edu	37	1	6202251	6202251	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:6202251C>T	uc001amb.2	-	14	2484	c.2373G>A	c.(2371-2373)cgG>cgA	p.R791R	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	791	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACTCGTTCTCCCGAATCACCG	0.557000														67			37		0	0	0.005524	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189852	58189852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:58189852G>A	uc002qpu.3	+	4	1578	c.881G>A	c.(880-882)gGa>gAa	p.G294E		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	294					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGCAATGAGGGAAATTCCACA	0.473000														40			17		0	0	0.004990	0	0
KIAA0754	643314	broad.mit.edu	37	1	39880054	39880054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:39880054C>T	uc009vvt.1	+	0	4879	c.4117C>T	c.(4117-4119)Ctt>Ttt	p.L1373F	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	1237										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAAGGAGGACCTTGATTCCCT	0.488000														12			7		0	0	0.001984	0	0
FAM86DP	692099	broad.mit.edu	37	3	75476679	75476679	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:75476679G>C	uc003dpp.4	-	5	745	c.386C>G	c.(385-387)gCc>gGc	p.A129G	FAM86DP_uc003dps.4_Intron|FAM86DP_uc003dpq.4_Missense_Mutation_p.A37G|FAM86DP_uc003dpr.4_Intron					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.																		GTCTAAGTTGGCAGTGATGTC	0.582000														32			4		0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179422840	179422840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179422840C>T	uc021vsy.1	-	276	79762	c.79537G>A	c.(79537-79539)Gat>Aat	p.D26513N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D20208N|TTN_uc021vta.1_Missense_Mutation_p.D20141N|TTN_uc021vtb.1_Missense_Mutation_p.D20016N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27440	Fibronectin type-III 93.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K26512R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGACACCATCTCTTGATAAG	0.423000														49			29		0	0	0.006320	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370229	86370229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:86370229C>T	uc001vll.1	-	1	874	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SLITRK6_uc021rla.1_Missense_Mutation_p.E139K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	139						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGCAGGAATTCCAGGTTTTCC	0.363000														41			28		0	0	0.004656	0	0
FAM113B	91523	broad.mit.edu	37	12	47629420	47629420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:47629420G>A	uc001rpq.3	+	1	1099	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	FAM113B_uc001rpn.3_Missense_Mutation_p.E192K|FAM113B_uc021qxi.1_Missense_Mutation_p.E192K	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	192							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					CCTGAAAAACGAAGTGGTCAA	0.582000														21			8		0	0	0.003080	0	0
CNBP	7555	broad.mit.edu	37	3	128889945	128889945	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:128889945G>A	uc021xdu.1	-	2	413	c.399C>T	c.(397-399)gaC>gaT	p.D133D	CNBP_uc021xdt.1_Silent_p.D126D|CNBP_uc003elr.4_Silent_p.D124D|CNBP_uc003elq.4_Silent_p.D131D|CNBP_uc021xdv.1_Silent_p.D125D|CNBP_uc021xdw.1_Silent_p.D132D|CNBP_uc011bku.2_Silent_p.D114D	NM_001127192	NP_001120664	P62633	CNBP_HUMAN	Homo sapiens CCHC-type zinc finger, nucleic acid binding protein (CNBP), transcript variant 1, mRNA.	131					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						CTTTGGTGCAGTCTTTTTGAA	0.433000														17			19		0	0	0.003330	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232888	1232888	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:1232888C>T	uc003jby.2	+	2	447	c.324C>T	c.(322-324)tcC>tcT	p.S108S		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	108					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCACGCTGTCCTTCCTGATCA	0.622000														38			14		0	0	0.001855	0	0
POU6F1	5463	broad.mit.edu	37	12	51584284	51584284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:51584284C>T	uc001rxy.3	-	4	844	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	POU6F1_uc001rxz.3_Missense_Mutation_p.E218K|POU6F1_uc001rya.3_Missense_Mutation_p.E218K	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA.	218					brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TGCTGGCCTTCCTGGTTCCGC	0.572000														91			49		0	0	0.003610	0	0
AKR1D1	6718	broad.mit.edu	37	7	137790091	137790091	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:137790091C>T	uc003vtz.3	+	4	582	c.495C>T	c.(493-495)tcC>tcT	p.S165S	AKR1D1_uc011kqd.1_Non-coding_Transcript|AKR1D1_uc011kqb.1_Silent_p.S165S|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqf.2_Intron|AKR1D1_uc011kqe.1_Silent_p.S165S|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	165					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TGGTGAAATCCCTGGGAGTGT	0.483000														81			33		0	0	0.002445	0	0
SAP130	79595	broad.mit.edu	37	2	128747283	128747283	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:128747283G>A	uc010fmd.2	-	12	1845	c.1713C>T	c.(1711-1713)atC>atT	p.I571I	SAP130_uc002tpn.2_Silent_p.I332I|SAP130_uc002tpp.2_Silent_p.I571I|SAP130_uc002tpq.1_Silent_p.I544I	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	571					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGGCCGGCTGGATACCCTGGG	0.567000														34			24		0	0	0.004656	0	0
KIAA1199	57214	broad.mit.edu	37	15	81171205	81171206	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:81171205_81171206GG>AA	uc002bfw.1	+	2	498_499	c.238_239GG>AA	c.(238-240)gga>AAa	p.G80K	KIAA1199_uc010unn.1_Missense_Mutation_p.G80K	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	80	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CATCTCAGAGGGAGGTAAGCCA	0.545000														50			21		0	0	0.004672	0	0
OR1E1	8387	broad.mit.edu	37	17	3300968	3300968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:3300968G>A	uc002fvj.1	-	0	737	c.737C>T	c.(736-738)tCt>tTt	p.S246F		NM_003553	NP_003544	P30953	OR1E1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						TGACACCACAGACAGGTGGGA	0.463000														16			18		0	0	0.007413	0	0
USP43	124739	broad.mit.edu	37	17	9583588	9583588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:9583588C>T	uc010cod.3	+	5	1010	c.1010C>T	c.(1009-1011)tCt>tTt	p.S337F	USP43_uc002gma.4_Missense_Mutation_p.S26F|USP43_uc010vva.2_Missense_Mutation_p.S337F|USP43_uc010coe.3_Missense_Mutation_p.S134F	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	337					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TTCCAGCGGTCTTTCTTTGAT	0.438000														15			23		0	0	0.003954	0	0
PRDM12	59335	broad.mit.edu	37	9	133543581	133543581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:133543581G>A	uc004bzt.1	+	2	511	c.451G>A	c.(451-453)Gat>Aat	p.D151N		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	151	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I150I(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CTACTTCATCGATGCCAGCCA	0.567000														29			14		0	0	0.001855	0	0
SLC6A3	6531	broad.mit.edu	37	5	1403047	1403047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:1403047G>A	uc003jck.3	-	12	1883	c.1757C>T	c.(1756-1758)tCc>tTc	p.S586F		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	586	Interaction with TGFB1I1.				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CTCTCGAAAGGACCCAGGCAG	0.642000														10			7		0	0	0.006214	0	0
DLGAP5	9787	broad.mit.edu	37	14	55647412	55647412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:55647412G>A	uc001xbs.3	-	5	882	c.665C>T	c.(664-666)tCt>tTt	p.S222F	DLGAP5_uc001xbt.3_Missense_Mutation_p.S222F	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	222					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TGCTGTGGTAGATGAGACTGT	0.448000														84			22		0	0	0.003954	0	0
SLC2A5	6518	broad.mit.edu	37	1	9098036	9098036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:9098036G>A	uc001apo.3	-	10	1514	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	SLC2A5_uc010nzy.2_Missense_Mutation_p.R349W|SLC2A5_uc010nzz.2_Missense_Mutation_p.R293W|SLC2A5_uc010oaa.2_Missense_Mutation_p.R364W	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	408					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	p.R408R(1)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGATGGCCGAGAGGACTGC	0.647000														16			12		0	0	0.000978	0	0
ATP2C2	9914	broad.mit.edu	37	16	84456094	84456094	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:84456094C>T	uc010chj.3	+	7	812	c.723C>T	c.(721-723)acC>acT	p.T241T	ATP2C2_uc002fhx.3_Silent_p.T241T|ATP2C2_uc002fhy.3_Silent_p.T258T|ATP2C2_uc002fhz.3_Silent_p.T90T	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	241					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ACCTCACCACCCTCAGCAACA	0.612000														46			22		0	0	0.002780	0	0
KIRREL2	84063	broad.mit.edu	37	19	36351226	36351226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:36351226C>T	uc002ocb.4	+	5	913	c.701C>T	c.(700-702)tCg>tTg	p.S234L	KIRREL2_uc002obz.4_Missense_Mutation_p.S234L|KIRREL2_uc002oca.4_Missense_Mutation_p.S184L|KIRREL2_uc002ocd.4_Missense_Mutation_p.S231L	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	234	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane		p.S234L(3)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTCTGCTTCGCCACACACT	0.602000														7			7		0	0	0.006214	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64537968	64537968	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:64537968G>A	uc003jtp.3	-	14	2710	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Silent_p.F253F	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	632					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)		ACTTTCCTCGGAAAGGCATAT	0.368000														16			21		0	0	0.006320	0	0
PEG3	5178	broad.mit.edu	37	19	57335922	57335922	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:57335922G>A	uc002qnu.2	-	0	453	c.102C>T	c.(100-102)atC>atT	p.I34I	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_Silent_p.I34I|PEG3_uc002qnv.2_Silent_p.I34I|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Silent_p.I34I	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	34					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)		CTTCTCCTATGATGACATCCG	0.483000														39			22		0	0	0.002299	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117779500	117779500	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:117779500C>T	uc001prs.2	-	9	1256	c.1110_splice	c.e9-1	p.V370_splice	TMPRSS13_uc009yzr.2_Splice_Site_p.V335_splice|TMPRSS13_uc021qrc.1_Splice_Site_p.V370_splice|TMPRSS13_uc001prt.1_Splice_Site_p.V49_splice|TMPRSS13_uc001pru.2_Intron	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	365	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CTCCCGGGTCCTGCAAGAGCC	0.617000														5			11		0	0	0.003163	0	0
PTGS2	5743	broad.mit.edu	37	1	186648524	186648524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:186648524C>T	uc001gsb.3	-	1	236	c.99G>A	c.(97-99)atG>atA	p.M33I	PTGS2_uc009wyo.3_5'UTR	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	33	EGF-like.				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	ATCCCACACTCATACATACAC	0.408000														23			16		0	0	0.004007	0	0
CLTCL1	8218	broad.mit.edu	37	22	19222165	19222165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:19222165G>A	uc021wle.1	-	6	1109	c.1034C>T	c.(1033-1035)cCa>cTa	p.P345L	CLTCL1_uc021wld.1_Missense_Mutation_p.P345L|CLTCL1_uc021wlc.1_Missense_Mutation_p.P345L|CLTCL1_uc021wlf.1_Missense_Mutation_p.P345L|CLTCL1_uc011agw.1_Missense_Mutation_p.P345L	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	345	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACCAAGGTCTGGATTCTGAAG	0.478000			T	?	ALCL									73			37		0	0	0.006999	0	0
PCSK1	5122	broad.mit.edu	37	5	95730586	95730586	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:95730586C>T	uc003kls.2	-	12	2105	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K	PCSK1_uc010jbi.2_Silent_p.K312K|PCSK1_uc021ybq.1_Silent_p.K575K	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	622					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)	GATCCACCATCTTCTCCACCC	0.502000														17			27		0	0	0.001786	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926633	22926633	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:22926633T>G	uc002dli.3	+	1	926	c.854T>G	c.(853-855)aTg>aGg	p.M285R		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	285						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GCCGGCGAGATGGGGCGAGTC	0.522000														87			24		0	0	0.003330	0	0
HADHB	3032	broad.mit.edu	37	2	26501646	26501646	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:26501646C>T	uc002rgz.3	+	7	858	c.607C>T	c.(607-609)Cga>Tga	p.R203*	HADHB_uc010ykv.2_Nonsense_Mutation_p.R181*|HADHB_uc010ykw.2_Nonsense_Mutation_p.R188*|HADHB_uc010ykx.2_Nonsense_Mutation_p.R129*	NM_000183	NP_000174	P55084	ECHB_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA.	203					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTAAATTCCGATTTAATTT	0.438000														44			16		0	0	0.007413	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8665924	8665924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:8665924C>T	uc002mkj.1	-	5	972	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	233					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCTGACCGATCGCTTCAGGCC	0.647000														37			21		0	0	0.001882	0	0
ZNF600	162966	broad.mit.edu	37	19	53270581	53270581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:53270581G>A	uc002qab.4	-	2	714	c.428C>T	c.(427-429)tCc>tTc	p.S143F	ZNF600_uc021uyz.1_Missense_Mutation_p.S143F	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AGAATTCGGGGAATTATTCCC	0.393000														77			36		0	0	0.003271	0	0
NRK	203447	broad.mit.edu	37	X	105137869	105137869	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:105137869G>A	uc004emd.3	+	5	726	c.423G>A	c.(421-423)gtG>gtA	p.V141V	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	141	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						CTGATGTAGTGAGAATGACCA	0.383000										HNSCC(51;0.14)				5			15		0	0	0.004990	0	0
EPS8L3	79574	broad.mit.edu	37	1	110299788	110299788	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:110299788C>T	uc001dyr.2	-	12	1195	c.970_splice	c.e12-1	p.I324_splice	EPS8L3_uc001dys.2_Splice_Site_p.I324_splice|EPS8L3_uc001dyq.2_Splice_Site_p.I325_splice|EPS8L3_uc009wfm.2_Splice_Site_p.I291_splice|EPS8L3_uc009wfn.2_Splice_Site_p.I299_splice|EPS8L3_uc009wfo.2_Splice_Site_p.I271_splice	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	324						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TGGCCAGGATCTAGGGGAGAG	0.592000														10			5		0	0	0.000602	0	0
OR11H12	440153	broad.mit.edu	37	14	19378093	19378093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:19378093G>A	uc010tkp.2	+	0	500	c.500G>A	c.(499-501)gGa>gAa	p.G167E		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGTTTGTGGATTTCTGTGG	0.488000														257			23		0	0	0.006999	0	0
NLRP7	199713	broad.mit.edu	37	19	55451105	55451105	+	Missense_Mutation	SNP	G	A	A	rs143169084	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:55451105G>A	uc002qih.4	-	3	1158	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	NLRP7_uc010esk.3_Missense_Mutation_p.S361L|NLRP7_uc002qig.4_Missense_Mutation_p.S361L|NLRP7_uc002qii.4_Missense_Mutation_p.S361L|NLRP7_uc010esl.3_Missense_Mutation_p.S389L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	361	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGCGGGGGCCGAGCCCAGCTG	0.632000														28			7		0	0	0.003080	0	0
MICAL1	64780	broad.mit.edu	37	6	109770007	109770007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:109770007G>A	uc011eaq.2	-	11	1940	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	MICAL1_uc003ptj.3_Missense_Mutation_p.S531F|MICAL1_uc003ptk.3_Missense_Mutation_p.S531F|MICAL1_uc010kdr.3_Missense_Mutation_p.S445F	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	531	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGACAAATCGGAGACGTGGAC	0.647000														19			21		0	0	0.001523	0	0
GLRA3	8001	broad.mit.edu	37	4	175598335	175598335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:175598335G>A	uc003ity.1	-	6	1324	c.821C>T	c.(820-822)tCa>tTa	p.S274L	GLRA3_uc003itz.1_Missense_Mutation_p.S274L	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	274					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GATCCAGAATGAAACCCAGGA	0.478000														17			9		0	0	0.006214	0	0
SRRD	402055	broad.mit.edu	37	22	26884359	26884359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:26884359C>T	uc010gve.3	+	3	521	c.514C>T	c.(514-516)Ccc>Tcc	p.P172S	SRRD_uc003acp.4_Missense_Mutation_p.P165S	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN	Homo sapiens SRR1 domain containing (SRRD), mRNA.	172					rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CTTCTAGATTCCCAGAAGTCA	0.428000														68			50		0	0	0.003610	0	0
CTSA	5476	broad.mit.edu	37	20	44521472	44521472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:44521472C>T	uc002xqh.3	+	5	981	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	NEURL2_uc002xqg.1_5'Flank|CTSA_uc002xqj.4_Missense_Mutation_p.P185S|CTSA_uc010zxi.2_Missense_Mutation_p.P186S|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	185					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CATCTACATCCCCACCCTGGC	0.547000														25			8		0	0	0.004482	0	0
SLC12A8	84561	broad.mit.edu	37	3	124837628	124837628	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:124837628G>A	uc003ehw.4	-	7	1054	c.984C>T	c.(982-984)ttC>ttT	p.F328F	SLC12A8_uc003ehv.4_Silent_p.F299F|SLC12A8_uc010hrz.1_Missense_Mutation_p.S173F|SLC12A8_uc003eht.4_Silent_p.F100F|SLC12A8_uc010hry.3_Silent_p.F52F	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	299					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						CCGCTATCAGGAAGTCATAGC	0.532000														7			6		0	0	0.001984	0	0
P4HA1	5033	broad.mit.edu	37	10	74806805	74806805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:74806805G>A	uc021ptk.1	-	6	987	c.955C>T	c.(955-957)Cct>Tct	p.P319S	P4HA1_uc010qka.2_Missense_Mutation_p.P319S|P4HA1_uc001jth.3_Missense_Mutation_p.P319S|P4HA1_uc001jtg.3_Missense_Mutation_p.P319S|P4HA1_uc010qkb.2_Missense_Mutation_p.P319S|P4HA1_uc021ptj.1_Missense_Mutation_p.P319S	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	319						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATAAATTTAGGATTACGGTTT	0.358000														32			20		0	0	0.001882	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147844632	147844632	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:147844632G>A	uc003weu.2	+	16	3120	c.2604G>A	c.(2602-2604)gaG>gaA	p.E868E		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	868	Laminin G-like 3.				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	p.E868D(2)		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)			GGCCAGTAGAGATTGTAGTGA	0.512000										HNSCC(39;0.1)				82			51		0	0	0.003610	0	0
COL4A1	1282	broad.mit.edu	37	13	110838746	110838746	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:110838746G>A	uc001vqw.4	-	25	2005	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	628	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGCCTGGGGATCCAGGGCC	0.622000														90			44		0	0	0.003610	0	0
SLC17A2	10246	broad.mit.edu	37	6	25917290	25917290	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:25917290G>A	uc011dkb.2	-	5	758	c.675C>T	c.(673-675)ctC>ctT	p.L225L	SLC17A2_uc011dkc.2_Silent_p.L225L|SLC17A2_uc003nfl.3_Silent_p.L225L			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	225					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.L225L(2)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGAACCATAGGAGACAGCAGA	0.463000														10			24		0	0	0.003954	0	0
ENPEP	2028	broad.mit.edu	37	4	111397743	111397743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:111397743C>T	uc003iab.4	+	0	515	c.173C>T	c.(172-174)tCc>tTc	p.S58F		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	58					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CCAGCTCCTTCCCACCTGCCT	0.632000														52			33		0	0	0.002445	0	0
ZNF641	121274	broad.mit.edu	37	12	48738484	48738484	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:48738484G>A	uc001rrn.2	-	5	722	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	ZNF641_uc001rro.2_Missense_Mutation_p.P140S|ZNF641_uc010sls.2_Missense_Mutation_p.P131S	NM_152320	NP_001166152	Q96N77	ZN641_HUMAN	Homo sapiens zinc finger protein 641 (ZNF641), transcript variant 1, mRNA.	154	KRAB.				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						TCCAGTTTGGGAATTGGAAAT	0.403000														37			23		0	0	0.004656	0	0
MEFV	4210	broad.mit.edu	37	16	3304686	3304686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:3304686C>T	uc002cun.1	-	1	422	c.382G>A	c.(382-384)Gag>Aag	p.E128K	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	128					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCGTTCCCCTCGTTCCCCTCG	0.677000														18			12		0	0	0.001368	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250862	140250862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140250862C>T	uc003lia.2	+	0	3032	c.2174C>T	c.(2173-2175)aCg>aTg	p.T725M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.T725M	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	735					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)			TGGTCGGCAACGCCCACTGAG	0.667000														8			10		0	0	0.006214	0	0
CASC4	113201	broad.mit.edu	37	15	44581414	44581414	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:44581414C>T	uc001ztp.3	+	0	506	c.187C>T	c.(187-189)Ctg>Ttg	p.L63L	CASC4_uc001ztq.3_Silent_p.L63L|CASC4_uc010bdu.2_Non-coding_Transcript|CASC4_uc001zto.2_Silent_p.L63L	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA.	63						integral to membrane		p.L63L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CCGCGGGCGGCTGGAAAAGCG	0.642000														22			9		0	0	0.000673	0	0
MOCS3	27304	broad.mit.edu	37	20	49576659	49576659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:49576659C>T	uc002xvy.1	+	0	1297	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	427	Rhodanese.				Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						ATCCTCCAGTCCTTATCAGCA	0.507000														51			25		0	0	0.003954	0	0
CAP2	10486	broad.mit.edu	37	6	17551751	17551751	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:17551751C>T	uc003ncb.3	+	11	1509	c.1266C>T	c.(1264-1266)taC>taT	p.Y422Y	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Silent_p.Y396Y|CAP2_uc011djb.2_Silent_p.Y358Y|CAP2_uc011djc.2_Silent_p.Y310Y|CAP2_uc011djd.2_Silent_p.Y162Y	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	422	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GCCACATATACCTCAGTGAAG	0.398000														18			47		0	0	0.003610	0	0
NEK7	140609	broad.mit.edu	37	1	198266348	198266348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:198266348C>T	uc001gun.4	+	8	1103	c.776C>T	c.(775-777)cCt>cTt	p.P259L	NEK7_uc021pgx.1_Missense_Mutation_p.P259L	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA.	259	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						CCACCTCTTCCTTCAGATCAC	0.338000														66			36		0	0	0.007835	0	0
NEU3	10825	broad.mit.edu	37	11	74716515	74716515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:74716515C>T	uc001ovw.3	+	2	520	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	NEU3_uc001ovv.3_Missense_Mutation_p.P112S|NEU3_uc010rrl.2_Missense_Mutation_p.P13S	NM_006656	NP_006647	A8K327	A8K327_HUMAN	Homo sapiens sialidase 3 (membrane sialidase) (NEU3), mRNA.	122										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GACCATGAACCCCTGTCCTGT	0.537000														10			13		0	0	0.001368	0	0
FAT4	79633	broad.mit.edu	37	4	126369957	126369957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:126369957G>A	uc003ifj.4	+	8	7786	c.7786G>A	c.(7786-7788)Gga>Aga	p.G2596R	FAT4_uc011cgp.2_Missense_Mutation_p.G894R|FAT4_uc003ifi.1_Missense_Mutation_p.G74R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2596	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTCTTTAAGAGGAGAACCTAT	0.423000														13			4		0	0	0.000248	0	0
QPRT	23475	broad.mit.edu	37	16	29708519	29708519	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:29708519G>A	uc002dto.3	+	4	760	c.682_splice	c.e4-1	p.E228_splice	BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.2_Splice_Site	NM_014298	NP_055113	Q15274	NADC_HUMAN	Homo sapiens quinolinate phosphoribosyltransferase (QPRT), mRNA.	228					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	GTGTCCCGCAGGAGCTGCACC	0.642000														7			5		0	0	0.001168	0	0
GLI2	2736	broad.mit.edu	37	2	121747777	121747777	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:121747777C>T	uc010flp.3	+	12	4317	c.4287C>T	c.(4285-4287)ccC>ccT	p.P1429P	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Silent_p.P1101P|GLI2_uc002tmu.4_Silent_p.P1084P	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1429					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1429S(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGGTGCCTCCCCAGCCGCCTC	0.652000														24			13		0	0	0.003163	0	0
NFE2L1	4779	broad.mit.edu	37	17	46128819	46128819	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:46128819C>T	uc002imz.4	+	1	990	c.339C>T	c.(337-339)gtC>gtT	p.V113V	NFE2L1_uc002ina.4_Silent_p.V113V|NFE2L1_uc002inb.4_Silent_p.V113V|NFE2L1_uc002inc.1_Silent_p.V113V	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.	113					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGGGTCTGTCTCTGGCAGTC	0.632000														55			18		0	0	0.006122	0	0
EFCAB7	84455	broad.mit.edu	37	1	64038153	64038153	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:64038153G>A	uc001dbf.3	+	13	2150	c.1856G>A	c.(1855-1857)tGg>tAg	p.W619*		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	619							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CGACAAGAATGGATATATTAT	0.239000														24			8		0	0	0.003080	0	0
CYLC2	1539	broad.mit.edu	37	9	105767357	105767357	+	Silent	SNP	G	A	A	rs147375715		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:105767357G>A	uc004bbs.2	+	4	514	c.444G>A	c.(442-444)gaG>gaA	p.E148E		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	148	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				aggatatagagaaaggaaaag	0.358000														7			6		0	0	0.001168	0	0
C4BPA	722	broad.mit.edu	37	1	207318012	207318012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:207318012G>A	uc001hfo.3	+	11	1938	c.1744G>A	c.(1744-1746)Gaa>Aaa	p.E582K		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	582					complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGAACAACTGGAACTACAGAG	0.443000														19			8		0	0	0.006214	0	0
PDILT	204474	broad.mit.edu	37	16	20376851	20376851	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:20376851G>A	uc002dhc.1	-	8	1351	c.1128C>T	c.(1126-1128)tcC>tcT	p.S376S		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	376					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TCTCTTCACTGGATTGATGTT	0.453000														69			30		0	0	0.002836	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20442830	20442830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:20442830C>T	uc001bcz.3	-	1	198	c.181G>A	c.(181-183)Gac>Aac	p.D61N	PLA2G2D_uc009vpo.3_Non-coding_Transcript	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN	Homo sapiens phospholipase A2, group IID (PLA2G2D), mRNA.	61					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTACCAGTCCGTGGCATCT	0.527000										Multiple Myeloma(11;0.12)				27			20		0	0	0.001882	0	0
C10orf140	387640	broad.mit.edu	37	10	21806505	21806505	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:21806505T>C	uc009xkd.3	-	3	2500	c.247A>G	c.(247-249)Atc>Gtc	p.I83V	C10orf140_uc021pnx.1_Missense_Mutation_p.I83V|C10orf140_uc010qcs.1_Missense_Mutation_p.I83V	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	Homo sapiens chromosome 10 open reading frame 140 (C10orf140), mRNA.	83						nucleus	nucleotide binding			kidney(1)|large_intestine(8)|lung(9)|ovary(1)|soft_tissue(1)|urinary_tract(1)	21						TCCCGGGAGATGAGCGTGCAT	0.597000														9			9		0	0	0.004482	0	0
NPY1R	4886	broad.mit.edu	37	4	164246624	164246624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:164246624C>T	uc003iqm.2	-	2	1451	c.986G>A	c.(985-987)aGa>aAa	p.R329K	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Missense_Mutation_p.R86K	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	329					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.R329K(2)		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)				CTGCAAGTCTCTCTGGAAGTT	0.423000														42			22		0	0	0.003330	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72468482	72468482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:72468482G>A	uc001jrg.3	+	3	818	c.818G>A	c.(817-819)cGc>cAc	p.R273H	ADAMTS14_uc001jrh.3_Missense_Mutation_p.R273H	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	273	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V272L(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TCGGTGGTTCGCTTCCATGGC	0.617000														41			30		0	0	0.004289	0	0
ACTR5	79913	broad.mit.edu	37	20	37396215	37396215	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:37396215G>T	uc002xjd.2	+	7	1567	c.1542G>T	c.(1540-1542)atG>atT	p.M514I		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.	514					DNA recombination|UV-damage excision repair|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				TGTTGGAGATGAGACCCTTCC	0.418000														36			19		1.56452e-12	1.95565e-12	0.007413	1	0
SLC22A12	116085	broad.mit.edu	37	11	64360946	64360946	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:64360946C>T	uc001oam.1	+	2	1323	c.576C>T	c.(574-576)ttC>ttT	p.F192F	SLC22A12_uc009ypr.1_Silent_p.F192F|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.3_Silent_p.F10F	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	192					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	p.F192F(2)|p.A191D(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CAGCTGCCTTCGCCCCTGCCT	0.612000														26			20		0	0	0.001523	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136321696	136321696	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:136321696C>T	uc004cdv.4	+	26	4191	c.3747C>T	c.(3745-3747)acC>acT	p.T1249T	ADAMTS13_uc004cdp.4_Silent_p.T420T|ADAMTS13_uc004cdt.1_Silent_p.T1193T|ADAMTS13_uc004cdu.1_Silent_p.T1162T|ADAMTS13_uc004cdw.4_Silent_p.T1193T|ADAMTS13_uc004cdx.4_Silent_p.T1162T|ADAMTS13_uc004cdz.4_Silent_p.T919T|ADAMTS13_uc004cea.1_Silent_p.T45T|ADAMTS13_uc004ceb.4_Silent_p.T45T	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1249	CUB 1.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCGGCTCACCTGGAGGAAGA	0.642000														21			6		0	0	0.000673	0	0
PEX5L	51555	broad.mit.edu	37	3	179525587	179525587	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:179525587G>A	uc003fki.1	-	13	1681	c.1551C>T	c.(1549-1551)acC>acT	p.T517T	PEX5L_uc011bqd.1_Silent_p.T474T|PEX5L_uc011bqe.1_Silent_p.T325T|PEX5L_uc011bqf.1_Silent_p.T409T|PEX5L_uc003fkj.1_Silent_p.T482T|PEX5L_uc010hxd.1_Silent_p.T515T|PEX5L_uc011bqg.1_Silent_p.T493T|PEX5L_uc011bqh.1_Silent_p.T458T	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	517					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CGTTCGCCAAGGTCGCCCCGA	0.512000														74			39		0	0	0.002222	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413214	139413214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:139413214C>T	uc004chz.3	-	5	928	c.928G>A	c.(928-930)Ggg>Agg	p.G310R		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	310	EGF-like 8; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G310R(3)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGCAGGTCCCGCCGTTCTGG	0.627000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				16			14		0	0	0.001855	0	0
LPAR4	2846	broad.mit.edu	37	X	78010800	78010800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:78010800G>A	uc022bzj.1	+	0	434	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	LPAR4_uc010nme.3_Missense_Mutation_p.R145Q	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	145						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.R145Q(2)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TATCCTTTTCGATCTCGTACT	0.463000														23			24		0	0	0.003954	0	0
CPS1	1373	broad.mit.edu	37	2	211452803	211452803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:211452803G>A	uc010fur.3	+	7	743	c.661G>A	c.(661-663)Gga>Aga	p.G221R	CPS1_uc002vee.4_Missense_Mutation_p.G215R	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	215	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	p.V221L(1)		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)		GTACGGCAAAGGAAACCCCAC	0.413000														67			22		0	0	0.005443	0	0
OR4N4	283694	broad.mit.edu	37	15	22382594	22382594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:22382594G>A	uc001yuc.1	+	6	1103	c.122G>A	c.(121-123)gGa>gAa	p.G41E	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.G41E	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCTCCCTGGAAATTTTCTC	0.443000														169			53		0	0	0.003610	0	0
SLC5A2	6524	broad.mit.edu	37	16	31501826	31501826	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:31501826G>A	uc002ecf.4	+	13	2008	c.1989G>A	c.(1987-1989)gtG>gtA	p.V663V	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_5'Flank|C16orf58_uc002ech.2_3'UTR|C16orf58_uc002eci.2_3'UTR	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	663					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TGATGGCAGTGGCCGTGTTCC	0.637000														13			5		0	0	0.000602	0	0
BAZ2B	29994	broad.mit.edu	37	2	160206705	160206705	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:160206705G>A	uc002uao.3	-	27	4782	c.4377C>T	c.(4375-4377)ttC>ttT	p.F1459F	BAZ2B_uc002uap.3_Silent_p.F1423F	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTTTCTGAAGGAATAGATTTG	0.378000														29			9		0	0	0.006214	0	0
FOCAD	54914	broad.mit.edu	37	9	20740333	20740333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:20740333C>T	uc003zog.1	+	6	749	c.386C>T	c.(385-387)aCc>aTc	p.T129I		NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	129						integral to membrane	binding										AGTATATATACCATTAGGTAA	0.284000														14			22		0	0	0.002780	0	0
GPC5	2262	broad.mit.edu	37	13	92101071	92101071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:92101071G>A	uc010tif.2	+	1	586	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	74						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGGAAGATGGAGGAGAGATA	0.418000														37			24		0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179416693	179416693	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179416693C>A	uc021vsy.1	-	283	83455	c.83230G>T	c.(83230-83232)Gtc>Ttc	p.V27744F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V21439F|TTN_uc021vta.1_Missense_Mutation_p.V21372F|TTN_uc021vtb.1_Missense_Mutation_p.V21247F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28671	Fibronectin type-III 102.						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)			ATGCTTGAGACAAGTGGTTGG	0.438000														62			33		4.65686e-17	5.85885e-17	0.003755	1	0
PAQR8	85315	broad.mit.edu	37	6	52268165	52268165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:52268165C>T	uc003pao.4	+	1	328	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	PAQR8_uc021zal.1_Missense_Mutation_p.R52C	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	Homo sapiens progestin and adipoQ receptor family member VIII (PAQR8), mRNA.	52					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.I51I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GCCTTACATCCGCACCGGCTA	0.607000														17			13		0	0	0.003163	0	0
TET1	80312	broad.mit.edu	37	10	70446316	70446316	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:70446316C>T	uc001jok.4	+	10	5761	c.5256C>T	c.(5254-5256)ccC>ccT	p.P1752P		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1752					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGCCTGTTCCCCGTTCTGGAA	0.502000														44			21		0	0	0.001523	0	0
PLCB1	23236	broad.mit.edu	37	20	8713958	8713958	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:8713958C>T	uc002wnb.3	+	18	1965	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	PLCB1_uc010zrb.1_Silent_p.F553F|PLCB1_uc002wna.3_Silent_p.F654F|PLCB1_uc002wnc.1_Silent_p.F553F|PLCB1_uc002wnd.1_Silent_p.F231F	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	654	PI-PLC Y-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCCAGAGTTCATGAGGAGGC	0.423000														36			20		0	0	0.001216	0	0
SAMD3	154075	broad.mit.edu	37	6	130530700	130530700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:130530700G>A	uc003qbw.3	-	4	651	c.323C>T	c.(322-324)tCt>tTt	p.S108F	SAMD3_uc003qbx.3_Missense_Mutation_p.S108F|SAMD3_uc010kfg.1_Missense_Mutation_p.S108F|SAMD3_uc003qby.3_Missense_Mutation_p.S108F|SAMD3_uc003qbz.1_Missense_Mutation_p.S67F	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	108										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGGATAGAAAGATGGCATCTG	0.443000														16			17		0	0	0.001216	0	0
SLIT2	9353	broad.mit.edu	37	4	20599938	20599938	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:20599938C>T	uc003gpr.1	+	32	3816	c.3612C>T	c.(3610-3612)gaC>gaT	p.D1204D	SLIT2_uc003gps.1_Silent_p.D1196D	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1204	Laminin G-like.				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						GTGACAAAGACCATATCGCGG	0.493000														70			38		0	0	0.004289	0	0
EFHB	151651	broad.mit.edu	37	3	19975238	19975238	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:19975238G>A	uc003cbl.4	-	0	469	c.273C>T	c.(271-273)gtC>gtT	p.V91V	EFHB_uc003cbm.3_Intron	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	91					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AGACACTGTCGACTCCTAAAC	0.443000														30			42		0	0	0.007835	0	0
SFT2D2	375035	broad.mit.edu	37	1	168211762	168211762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:168211762C>T	uc001gfi.4	+	7	530	c.467C>T	c.(466-468)gCc>gTc	p.A156V	TBX19_uc001gfj.4_Intron	NM_199344	NP_955376	O95562	SFT2B_HUMAN	Homo sapiens SFT2 domain containing 2 (SFT2D2), mRNA.	156					protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					AAGTGTTTTGCCGTGTGTCTT	0.458000														58			34		0	0	0.004289	0	0
PVRL4	81607	broad.mit.edu	37	1	161047403	161047403	+	Silent	SNP	T	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:161047403T>G	uc001fxo.2	-	2	869	c.570A>C	c.(568-570)acA>acC	p.T190T	PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_5'Flank	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	190	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGCTGGACGTTGTGCCTTTGA	0.637000														31			13		0	0	0.001855	0	0
MYLPF	29895	broad.mit.edu	37	16	30387967	30387967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:30387967G>A	uc002dxv.1	+	4	360	c.304G>A	c.(304-306)Gga>Aga	p.G102R	ZNF48_uc021tgi.1_5'Flank|ZNF48_uc021tgj.1_5'Flank	NM_013292	NP_037424	Q96A32	MLRS_HUMAN	Homo sapiens myosin light chain, phosphorylatable, fast skeletal muscle (MYLPF), mRNA.	102	EF-hand 2.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			TGTGATCACCGGAGCCTTCAA	0.612000														11			5		0	0	0.003080	0	0
CD36	948	broad.mit.edu	37	7	80276161	80276161	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:80276161G>A	uc003uhc.3	+	5	789	c.105G>A	c.(103-105)caG>caA	p.Q35Q	CD36_uc011kgv.2_Intron|CD36_uc003uhd.4_Silent_p.Q35Q|CD36_uc003uhe.4_Silent_p.Q35Q|CD36_uc003uhf.4_Silent_p.Q35Q|CD36_uc003uhg.4_Silent_p.Q35Q|CD36_uc003uhh.4_Silent_p.Q35Q|CD36_uc022agu.1_Silent_p.Q35Q|CD36_uc022agv.1_Silent_p.Q35Q	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	35					cGMP-mediated signaling|cell adhesion|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGCTTATCCAGAAGACAATTA	0.418000														46			15		0	0	0.003163	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377779	125377779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:125377779C>T	uc011lyy.2	+	0	763	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTATGGCACCCTCAGTTGGGT	0.557000														42			25		0	0	0.001786	0	0
TICAM1	148022	broad.mit.edu	37	19	4817290	4817290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:4817290G>A	uc002mbi.3	-	1	1351	c.1100C>T	c.(1099-1101)cCt>cTt	p.P367L	TICAM1_uc021unj.1_Missense_Mutation_p.P367L	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	367	Pro-rich.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB 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|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGTAGATGAaggaggaggagg	0.522000														14			16		0	0	0.003163	0	0
MAP3K15	389840	broad.mit.edu	37	X	19380929	19380929	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:19380929C>T	uc022btq.1	-	25	3606	c.3606G>A	c.(3604-3606)caG>caA	p.Q1202Q	MAP3K15_uc004czj.2_Silent_p.Q637Q|MAP3K15_uc004czk.2_Silent_p.Q677Q|MAP3K15_uc004czi.2_Silent_p.Q136Q	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	1202							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCAGAAGATTCTGGTACTCTC	0.328000														21			26		0	0	0.005443	0	0
EPB41	2035	broad.mit.edu	37	1	29314203	29314203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:29314203C>T	uc001brm.2	+	1	381	c.254C>T	c.(253-255)tCg>tTg	p.S85L	EPB41_uc001brg.2_5'UTR|EPB41_uc001brh.2_5'UTR|EPB41_uc001brj.2_5'UTR|EPB41_uc001bri.2_Missense_Mutation_p.S85L|EPB41_uc009vtk.2_Missense_Mutation_p.S85L|EPB41_uc001brk.3_Missense_Mutation_p.S85L|EPB41_uc001brl.2_Missense_Mutation_p.S85L|EPB41_uc021okg.1_Missense_Mutation_p.S85L|EPB41_uc009vtm.2_5'UTR|EPB41_uc009vtl.2_5'UTR	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	85					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	p.P84P(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CTATTCTCCTCGTTTCTCAAA	0.433000														58			34		0	0	0.003755	0	0
BCL6	604	broad.mit.edu	37	3	187446313	187446313	+	Missense_Mutation	SNP	G	A	A	rs137878288	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:187446313G>A	uc003frp.3	-	5	1832	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R459C|BCL6_uc010hza.2_Missense_Mutation_p.R357C|BCL6_uc003frq.2_Missense_Mutation_p.R459C	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	459					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R459H(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGCTGCTGCGGGGAGAGCCC	0.622000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									38			14		0	0	0.003163	0	0
MEF2D	4209	broad.mit.edu	37	1	156446904	156446904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:156446904G>A	uc001fpc.3	-	6	1145	c.755C>T	c.(754-756)cCa>cTa	p.P252L	MEF2D_uc001fpb.3_Missense_Mutation_p.P252L|MEF2D_uc001fpd.3_Missense_Mutation_p.P252L|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Missense_Mutation_p.P252L	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.	252	Poly-Pro.				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGTGGGGGTGGAGACTTGGC	0.607000														29			27		0	0	0.005443	0	0
CHN2	1124	broad.mit.edu	37	7	29519972	29519972	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:29519972G>A	uc003szz.3	+	7	1091	c.654_splice	c.e7+1	p.K218_splice	CHN2_uc011jzs.2_Splice_Site_p.K293_splice|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Splice_Site_p.K183_splice|CHN2_uc011jzt.2_Splice_Site_p.K231_splice|CHN2_uc010kvd.3_Splice_Site_p.K74_splice|CHN2_uc011jzu.2_Splice_Site_p.K203_splice|CHN2_uc010kvh.3_Splice_Site_p.K82_splice|CHN2_uc010kvi.3_Splice_Site_p.K82_splice|CHN2_uc010kve.3_Splice_Site_p.K82_splice|CHN2_uc003taa.3_Splice_Site_p.K82_splice|CHN2_uc010kvf.3_Splice_Site_p.K82_splice|CHN2_uc010kvg.3_Splice_Site_p.K82_splice|CHN2_uc010kvj.3_Intron|CHN2_uc010kvk.3_Intron|CHN2_uc010kvl.3_Intron|CHN2_uc010kvm.3_Intron	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	218					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						ACAACTTTAAGGTAAGCAAGC	0.453000														32			15		0	0	0.004007	0	0
CSMD2	114784	broad.mit.edu	37	1	34401395	34401395	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:34401395G>A	uc001bxm.1	-	3	855	c.678C>T	c.(676-678)agC>agT	p.S226S	CSMD2_uc001bxn.1_Silent_p.S186S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	186	CUB 2.					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)				CCCACGTGGCGCTGTTCTCAG	0.632000														25			11		0	0	0.000673	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527784	65527784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:65527784G>A	uc003xvj.2	-	3	1060	c.856C>T	c.(856-858)Cat>Tat	p.H286Y		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	286					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AAGCCTAAATGATGTGCTGGG	0.423000														30			6		0	0	0.003080	0	0
MTR	4548	broad.mit.edu	37	1	237016305	237016305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:237016305C>T	uc001hyi.4	+	17	2293	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y	MTR_uc010pxw.2_Missense_Mutation_p.H217Y|MTR_uc010pxx.2_Missense_Mutation_p.H624Y|MTR_uc010pxy.2_Intron	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	624	Pterin-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)	TGATGATATCCATAAGGAACT	0.433000														48			12		0	0	0.000978	0	0
FRY	10129	broad.mit.edu	37	13	32776495	32776495	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:32776495C>T	uc001utx.3	+	30	4345	c.3849C>T	c.(3847-3849)atC>atT	p.I1283I	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTTTATAGATCCTTGAAGCAA	0.388000														39			14		0	0	0.001855	0	0
SPAG17	200162	broad.mit.edu	37	1	118558675	118558676	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:118558675_118558676TC>AT	uc001ehk.2	-	28	4267_4268	c.4199_4200GA>AT	c.(4198-4200)gga>gAT	p.G1400D		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1400						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)		CGATCCGATTTCCTTCAGGTGT	0.475000														36			84		0	0	0.004672	0	0
RBBP6	5930	broad.mit.edu	37	16	24580361	24580361	+	Missense_Mutation	SNP	C	T	T	rs146591085	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:24580361C>T	uc002dmh.3	+	16	3390	c.2350C>T	c.(2350-2352)Cgt>Tgt	p.R784C	RBBP6_uc010vcb.1_Missense_Mutation_p.R651C|RBBP6_uc002dmi.3_Missense_Mutation_p.R750C|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.R617C	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	784					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCCTAATAAACGTAATGTACC	0.413000														17			9		0	0	0.000978	0	0
BPTF	2186	broad.mit.edu	37	17	65972017	65972017	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:65972017G>T	uc002jgf.3	+	26	8730	c.8669G>T	c.(8668-8670)tGt>tTt	p.C2890F	BPTF_uc002jge.3_Missense_Mutation_p.C2873F|BPTF_uc021uca.1_Missense_Mutation_p.C690F|BPTF_uc002jgg.3_Missense_Mutation_p.C605F|BPTF_uc002jgh.3_Missense_Mutation_p.C407F	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	3016					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTACCAGTGTGCAGAAGTT	0.383000														36			37		4.67007e-22	5.88394e-22	0.001951	1	0
OR5R1	219479	broad.mit.edu	37	11	56185322	56185322	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:56185322G>A	uc010rji.2	-	0	387	c.387C>T	c.(385-387)ccC>ccT	p.P129P	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AATAATGCAGGGGACTACAGA	0.468000														39			25		0	0	0.003954	0	0
DTX4	23220	broad.mit.edu	37	11	58949292	58949292	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:58949292G>C	uc001nns.2	+	1	549	c.292G>C	c.(292-294)Gac>Cac	p.D98H	DTX4_uc001nnr.2_5'UTR	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.	98	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GTGGGAGAACGACAATGGCTC	0.617000														46			15		0	0	0.002450	0	0
TTC3	7267	broad.mit.edu	37	21	38516888	38516888	+	Silent	SNP	G	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:38516888G>C	uc002yvz.3	+	20	1941	c.1836G>C	c.(1834-1836)gtG>gtC	p.V612V	TTC3_uc011aee.1_Silent_p.V302V|TTC3_uc002ywa.3_Silent_p.V612V|TTC3_uc002ywb.3_Silent_p.V612V|TTC3_uc010gnf.3_Silent_p.V377V|TTC3_uc002ywc.3_Silent_p.V302V|TTC3_uc011aed.1_Silent_p.V302V|TTC3_uc010gne.1_Silent_p.V612V	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	612					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)				TTCCTGGAGTGTTAACTTGGC	0.343000														43			19		0	0	0.007413	0	0
ATP13A5	344905	broad.mit.edu	37	3	193032821	193032821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:193032821C>T	uc011bsq.2	-	17	2098	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	700					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.E700K(2)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGTTTGGTTTCTTTTTTCAAG	0.383000														63			20		0	0	0.001216	0	0
EIF2C2	27161	broad.mit.edu	37	8	141595379	141595379	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:141595379G>A	uc003yvn.3	-	1	95	c.54C>T	c.(52-54)atC>atT	p.I18I	EIF2C2_uc010meo.3_Silent_p.I18I|EIF2C2_uc010men.3_Intron	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	18					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CATATCCTTGGATGGGGGGCG	0.577000														34			51		0	0	0.003610	0	0
INPP5D	3635	broad.mit.edu	37	2	234104085	234104085	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:234104085G>A	uc010zmo.2	+	22	2703	c.2550G>A	c.(2548-2550)aaG>aaA	p.K850K	INPP5D_uc010zmp.2_Silent_p.K849K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	879					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GTGGGCCAAAGACCCTGAAGA	0.587000														28			13		0	0	0.003163	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363991	42363991	+	Silent	SNP	G	A	A	rs138680325		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:42363991G>A	uc001zox.3	-	14	1649	c.1554C>T	c.(1552-1554)ccC>ccT	p.P518P		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	518	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	p.P518P(2)		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)		AGCAGATCCGGGGCTCCGGGA	0.622000														34			18		0	0	0.004990	0	0
KCNH4	23415	broad.mit.edu	37	17	40315253	40315253	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:40315253G>A	uc002hzb.2	-	13	2910	c.2577C>T	c.(2575-2577)ccC>ccT	p.P859P		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	859					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TACCTGTAGGGGGCGCCTGGG	0.597000														17			25		0	0	0.006320	0	0
UTP20	27340	broad.mit.edu	37	12	101748767	101748767	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:101748767C>T	uc001tia.1	+	40	5421	c.5265C>T	c.(5263-5265)tcC>tcT	p.S1755S		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1755					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTAAAGAATCCGAGTGTATCA	0.433000														24			10		0	0	0.000673	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307491	140307491	+	Silent	SNP	C	T	T	rs116016831	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140307491C>T	uc003lih.2	+	0	1190	c.1014C>T	c.(1012-1014)ccC>ccT	p.P338P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.P338P	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	363	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P338P(1)		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)			ATCATGCCCCCGAACTGGACT	0.522000														23			26		0	0	0.005443	0	0
MAP7D1	55700	broad.mit.edu	37	1	36643568	36643568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:36643568C>T	uc001bzz.3	+	8	1690	c.1474C>T	c.(1474-1476)Cca>Tca	p.P492S	MAP7D1_uc001caa.3_Missense_Mutation_p.P460S|MAP7D1_uc001cab.3_Missense_Mutation_p.P455S|MAP7D1_uc001cac.3_Missense_Mutation_p.P192S|MAP7D1_uc001cad.3_Missense_Mutation_p.P38S	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	492	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)				CACTCTGCCTCCAAAGCCACC	0.692000														32			6		0	0	0.001168	0	0
SORCS3	22986	broad.mit.edu	37	10	106737200	106737200	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:106737200C>T	uc001kyi.1	+	3	1130	c.903C>T	c.(901-903)ctC>ctT	p.L301L		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	301						integral to membrane	neuropeptide receptor activity	p.L300M(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAGCCTGCTCTTTCATCCCA	0.458000														34			11		0	0	0.001855	0	0
MBTPS1	8720	broad.mit.edu	37	16	84129405	84129405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:84129405G>A	uc002fhi.3	-	3	929	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	143					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGTACTGTGGGGTCAGCTACA	0.547000														52			17		0	0	0.004990	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073629	73073629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:73073629G>A	uc001otu.3	+	13	4867	c.4846G>A	c.(4846-4848)Ggc>Agc	p.G1616S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1616					actin cytoskeleton organization|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	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCAGGCTCGGGCTTGGAGAT	0.706000														19			7		0	0	0.003080	0	0
C1orf129	80133	broad.mit.edu	37	1	170941014	170941014	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:170941014G>A	uc010plz.2	+	7	760	c.606G>A	c.(604-606)cgG>cgA	p.R202R	C1orf129_uc001ghg.3_Silent_p.R202R|C1orf129_uc009wvy.3_Silent_p.R9R	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	202							binding	p.A201E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACATTGCACGGTGTCAGAACG	0.453000														94			45		0	0	0.003610	0	0
TNN	63923	broad.mit.edu	37	1	175106034	175106034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:175106034G>A	uc001gkl.1	+	16	3618	c.3505G>A	c.(3505-3507)Gaa>Aaa	p.E1169K		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1169	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GACTGCCAATGAATCTGCCTA	0.468000														25			7		0	0	0.003080	0	0
KLB	152831	broad.mit.edu	37	4	39439414	39439414	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:39439414G>A	uc003gua.3	+	2	1501	c.1404G>A	c.(1402-1404)tgG>tgA	p.W468*	KLB_uc011byj.2_Nonsense_Mutation_p.W468*	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	468	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.W468S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GCTTTGAATGGCAGGATGCTT	0.418000														49			27		0	0	0.005443	0	0
DNAH3	55567	broad.mit.edu	37	16	21042461	21042461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:21042461G>A	uc010vbe.2	-	36	5345	c.5345C>T	c.(5344-5346)tCa>tTa	p.S1782L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1782	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCAGAGAGTGAAGACGCTTG	0.463000														32			17		0	0	0.006122	0	0
KIAA1109	84162	broad.mit.edu	37	4	123230543	123230543	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:123230543C>T	uc003ieh.3	+	56	10221	c.10176C>T	c.(10174-10176)atC>atT	p.I3392I	KIAA1109_uc003iel.1_Silent_p.I1327I	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3392					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTTTTGTATCCGTTTTGCTG	0.383000														56			16		0	0	0.006122	0	0
AMN1	196394	broad.mit.edu	37	12	31862360	31862360	+	Splice_Site	SNP	C	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:31862360C>A	uc001rkq.4	-	2	205	c.39_splice	c.e2-1	p.L13_splice	AMN1_uc001rko.4_Splice_Site|AMN1_uc010skc.2_Splice_Site|AMN1_uc009zjs.3_Intron|AMN1_uc009zjt.1_Intron	NM_001113402	NP_001106873	Q8IY45	AMN1_HUMAN	Homo sapiens antagonist of mitotic exit network 1 homolog (S. cerevisiae) (AMN1), transcript variant 1, mRNA.	13										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CCAAAGGCATCTGAAATACAA	0.353000														7			7		2.0095e-06	2.49934e-06	0.001984	1	0
TLN2	83660	broad.mit.edu	37	15	62942303	62942303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:62942303C>T	uc002alb.4	+	1	157	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	53					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						TGGACTCTTTCTTTCGGATGA	0.493000														50			20		0	0	0.001523	0	0
ADCY1	107	broad.mit.edu	37	7	45743273	45743273	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:45743273C>T	uc003tne.4	+	15	2664	c.2646C>T	c.(2644-2646)atC>atT	p.I882I		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	882					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ACTTCTACATCGAGCTGGACG	0.562000														39			18		0	0	0.007413	0	0
GJB1	2705	broad.mit.edu	37	X	70443915	70443915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:70443915G>A	uc022byr.1	+	0	358	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	BCYRN1_uc011mpt.1_Intron|GJB1_uc004dzf.3_Missense_Mutation_p.V120M|GJB1_uc004dzg.3_Missense_Mutation_p.V120M	NM_001097642	NP_001091111	P08034	CXB1_HUMAN	Homo sapiens gap junction protein, beta 1, 32kDa (GJB1), transcript variant 1, mRNA.	120			Missing (in CMTX1).|V -> E (in CMTX1).		cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					CCTGGAGGAGGTGAAGAGGCA	0.562000														1			6		0	0	0.001984	0	0
ZIC4	84107	broad.mit.edu	37	3	147120535	147120535	+	Missense_Mutation	SNP	C	T	T	rs148365070	by1000genomes	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:147120535C>T	uc011bno.2	-	1	386	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	ZIC4_uc021xff.1_Missense_Mutation_p.R55Q|ZIC4_uc003ewd.2_Missense_Mutation_p.R17Q|ZIC4_uc021xfg.1_Missense_Mutation_p.R17Q	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	17						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGAGTGTTTCGGTAAAGCCG	0.353000														70			23		0	0	0.005443	0	0
MMAA	166785	broad.mit.edu	37	4	146560724	146560724	+	Nonsense_Mutation	SNP	C	T	T	rs104893851	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:146560724C>T	uc003ikh.4	+	1	518	c.433C>T	c.(433-435)Cga>Tga	p.R145*	MMAA_uc010iow.3_Non-coding_Transcript	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	145			R -> Q (in MMAA).			mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTAGCATTTCGAGTAGGTCA	0.323000														14			5		0	0	0.001984	0	0
HFM1	164045	broad.mit.edu	37	1	91845776	91845776	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:91845776C>T	uc001doa.4	-	7	990	c.891G>A	c.(889-891)agG>agA	p.R297R	HFM1_uc010osu.2_5'UTR|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Silent_p.R297R	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	297	Helicase ATP-binding.						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)		TCACAAAATTCCTATCTGTGT	0.299000														58			24		0	0	0.003954	0	0
D28359	0	broad.mit.edu	37	13	52035470	52035470	+	RNA	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:52035470T>C	uc001vfo.1	+	0		c.2375T>C								Homo sapiens cDNA FLJ34612 fis, clone KIDNE2014170, highly similar to 40S RIBOSOMAL PROTEIN S4, X ISOFORM.																		GGGTGACATGTTAGATCTTTG	0.423000														9			7		0	0	0.001984	0	0
IGSF1	3547	broad.mit.edu	37	X	130416704	130416704	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:130416704G>A	uc004ewe.4	-	6	1243	c.960C>T	c.(958-960)ttC>ttT	p.F320F	IGSF1_uc004ewd.3_Silent_p.F320F|IGSF1_uc022cdv.1_Silent_p.F311F|IGSF1_uc004ewf.2_Silent_p.F300F	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	320					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						AGGTCTTGGGGAAAGTGTCTA	0.512000														6			15		0	0	0.006122	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966312	41966312	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:41966312C>T	uc010skn.2	+	9	1739	c.1731C>T	c.(1729-1731)ccC>ccT	p.P577P	PDZRN4_uc001rmq.4_Silent_p.P319P|PDZRN4_uc009zjz.3_Silent_p.P317P|PDZRN4_uc001rmr.3_Silent_p.P204P	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	577							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)				CCGAGGACCCCAATAGCACAT	0.498000														9			8		0	0	0.004482	0	0
SPAM1	6677	broad.mit.edu	37	7	123594421	123594421	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:123594421A>T	uc003vle.3	+	2	1236	c.797A>T	c.(796-798)aAc>aTc	p.N266I	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.N266I|SPAM1_uc022aks.1_Missense_Mutation_p.N266I|SPAM1_uc003vlf.4_Missense_Mutation_p.N266I|SPAM1_uc010lku.3_Missense_Mutation_p.N266I	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	266					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ATTTATTTGAACACTCAGCAG	0.423000														50			11		0	0	0.001368	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185407217	185407217	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:185407217G>A	uc003fpo.3	-	5	682	c.603C>T	c.(601-603)ccC>ccT	p.P201P	IGF2BP2_uc010hyi.3_Silent_p.P144P|IGF2BP2_uc010hyj.3_Silent_p.P138P|IGF2BP2_uc010hyk.3_Silent_p.P65P|IGF2BP2_uc010hyl.3_Silent_p.P138P|IGF2BP2_uc003fpp.3_Silent_p.P201P|IGF2BP2_uc003fpq.3_Silent_p.P206P	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA.	201	KH 1.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CAAACTGGGTGGGGACCAGGA	0.607000														167			68		0	0	0.003610	0	0
OR5M9	390162	broad.mit.edu	37	11	56230376	56230376	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:56230376C>T	uc010rjj.2	-	0	502	c.502G>A	c.(502-504)Gga>Aga	p.G168R	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TCAAAGTTTCCACAGAAGTAT	0.428000														22			10		0	0	0.000673	0	0
KRT16	3868	broad.mit.edu	37	17	39766713	39766713	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:39766713C>A	uc002hxg.4	-	5	1289	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	384	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GCCAGCTGCTCCTCCACACTG	0.582000														21			41		2.46787e-29	3.11159e-29	0.003610	1	0
DAGLA	747	broad.mit.edu	37	11	61488326	61488326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:61488326C>T	uc001nsa.3	+	2	387	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	91					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.P90P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CACGGAGCCCCGTGACTCCAT	0.647000														24			18		0	0	0.001882	0	0
SZT2	23334	broad.mit.edu	37	1	43903269	43903269	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:43903269C>T	uc001cjk.2	+	43	6207	c.3597C>T	c.(3595-3597)ctC>ctT	p.L1199L		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2098						peroxisome		p.R1198R(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCCCAGGCTCCTAGAGACAT	0.572000														13			5		0	0	0.000602	0	0
CHN1	1123	broad.mit.edu	37	2	175779842	175779842	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:175779842C>T	uc002uji.3	-	4	545	c.204G>A	c.(202-204)ggG>ggA	p.G68G	CHN1_uc010zeq.2_Silent_p.G68G|CHN1_uc002ujj.3_5'UTR	NM_001822	NP_001813	P15882	CHIN_HUMAN	Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA.	68	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TGAGGTAGCTCCCCTCAGCCA	0.473000			T	TAF15	extraskeletal myxoid chondrosarcoma									14			8		0	0	0.000978	0	0
RICTOR	253260	broad.mit.edu	37	5	38950766	38950766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:38950766G>A	uc003jlo.2	-	30	3206	c.3184C>T	c.(3184-3186)Ctt>Ttt	p.L1062F	RICTOR_uc003jlp.2_Missense_Mutation_p.L1062F|RICTOR_uc010ivf.2_Missense_Mutation_p.L777F	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1062					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTGATATCAAGGAAAAATGTG	0.348000														28			30		0	0	0.002096	0	0
MYOM1	8736	broad.mit.edu	37	18	3102527	3102527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:3102527C>T	uc002klp.3	-	22	3854	c.3520G>A	c.(3520-3522)Gat>Aat	p.D1174N	MYOM1_uc002klq.3_Missense_Mutation_p.D1078N	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1174	Ig-like C2-type 3.					striated muscle myosin thick filament	structural constituent of muscle	p.D1174Y(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GATACATAATCTTTGGACCAG	0.418000														94			51		0	0	0.003610	0	0
PLXNA4	91584	broad.mit.edu	37	7	131883317	131883317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:131883317C>T	uc003vra.4	-	12	2894	c.2665G>A	c.(2665-2667)Gac>Aac	p.D889N		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	889	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAGGCGATGTCGCGAAATTCC	0.562000														35			27		0	0	0.001512	0	0
NEBL	10529	broad.mit.edu	37	10	21074700	21074700	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:21074700C>T	uc001iqi.3	-	27	3418	c.3021G>A	c.(3019-3021)gcG>gcA	p.A1007A	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Silent_p.A263A|NEBL_uc021pnu.1_3'UTR	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	1007	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle	p.A1007A(2)|p.A263A(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAATGTAATTCGCTGGGAGCA	0.413000														11			15		0	0	0.004990	0	0
SENP6	26054	broad.mit.edu	37	6	76350409	76350409	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:76350409C>T	uc003pid.4	+	5	1087	c.468C>T	c.(466-468)gaC>gaT	p.D156D	SENP6_uc003pie.4_Intron|SENP6_uc003pic.2_Intron|SENP6_uc003pif.1_Silent_p.D47D	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	156					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GCAGTCTGGACCGAAAAGAAA	0.279000														9			6		0	0	0.004482	0	0
PHC3	80012	broad.mit.edu	37	3	169846497	169846497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:169846497G>A	uc003fgl.2	-	7	1797	c.1763C>T	c.(1762-1764)cCa>cTa	p.P588L	PHC3_uc010hws.1_Missense_Mutation_p.P576L|PHC3_uc011bpq.1_Missense_Mutation_p.P535L|PHC3_uc011bpr.1_Missense_Mutation_p.P502L	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	576	Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AGGTGCTGGTGGTTGCACTTG	0.453000														20			13		0	0	0.001368	0	0
DOK5	55816	broad.mit.edu	37	20	53205106	53205106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:53205106G>A	uc002xwy.3	+	2	479	c.259G>A	c.(259-261)Gat>Aat	p.D87N		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	87	PH.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			TTTCAATGACGATACCTCCAA	0.418000														60			28		0	0	0.002096	0	0
RAP1B	5908	broad.mit.edu	37	12	69047971	69047972	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:69047971_69047972CC>TT	uc001sub.3	+	4	503_504	c.263_264CC>TT	c.(262-264)tcc>tTT	p.S88F	RAP1B_uc010ste.2_Missense_Mutation_p.S22F|RAP1B_uc001suc.3_Missense_Mutation_p.S88F|RAP1B_uc010stf.2_Missense_Mutation_p.S69F|RAP1B_uc010stg.2_Missense_Mutation_p.S46F|RAP1B_uc010sth.2_Missense_Mutation_p.S46F|RAP1B_uc010sti.2_Intron	NM_015646	NP_056461	P61224	RAP1B_HUMAN	Homo sapiens RAP1B, member of RAS oncogene family (RAP1B), transcript variant 1, mRNA.	88					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		ACAGCACAGTCCACATTTAACG	0.337000														124			41		0	0	0.004672	0	0
CPAMD8	27151	broad.mit.edu	37	19	17025574	17025574	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:17025574A>G	uc002nfb.3	-	27	3852	c.3820T>C	c.(3820-3822)Ttc>Ctc	p.F1274L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1227						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGGTCCACGAAGATAAAGCTG	0.617000														33			6		0	0	0.003080	0	0
APOB	338	broad.mit.edu	37	2	21236096	21236096	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:21236096G>A	uc002red.3	-	24	4280	c.4152C>T	c.(4150-4152)agC>agT	p.S1384S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1384					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	p.S1384N(1)		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)	GAGCCCGAAGGCTGAAATGGT	0.537000														240			106		0	0	0.003610	0	0
RPAP1	26015	broad.mit.edu	37	15	41817327	41817327	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:41817327C>G	uc001zod.3	-	14	2061	c.1937G>C	c.(1936-1938)cGg>cCg	p.R646P		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	646						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAGGCGGCTCCGGAGATCAAA	0.592000														12			7		0	0	0.004482	0	0
GMPPB	29925	broad.mit.edu	37	3	49759664	49759664	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:49759664C>T	uc003cxl.1	-	7	993	c.768_splice	c.e7+1	p.V256_splice	AMIGO3_uc003cxj.3_5'Flank|GMPPB_uc003cxk.1_Splice_Site_p.V256_splice	NM_013334	NP_037466	Q9Y5P6	GMPPB_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase B (GMPPB), transcript variant 1, mRNA.	256					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGGGCCTCACCACCAGCACGT	0.597000														36			17		0	0	0.006122	0	0
USH2A	7399	broad.mit.edu	37	1	216040418	216040418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:216040418C>T	uc001hku.1	-	43	9163	c.8776G>A	c.(8776-8778)Gag>Aag	p.E2926K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2926	Fibronectin type-III 16.				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)		GCTCCTCTCTCTGGAAGACCA	0.463000										HNSCC(13;0.011)				32			24		0	0	0.003330	0	0
HHLA2	11148	broad.mit.edu	37	3	108072514	108072514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:108072514G>A	uc003dwz.3	+	3	719	c.305G>A	c.(304-306)gGg>gAg	p.G102E	HHLA2_uc011bhl.2_Intron|HHLA2_uc010hpu.3_Missense_Mutation_p.G102E|HHLA2_uc003dwy.4_Missense_Mutation_p.G102E	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	102	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						ATTCAAAATGGGAATGCGTCG	0.398000														23			12		0	0	0.001368	0	0
CCDC9	26093	broad.mit.edu	37	19	47773841	47773841	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:47773841C>T	uc010xym.2	+	9	1188	c.981C>T	c.(979-981)ccC>ccT	p.P327P		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA.	327										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCCGAAGCCCCCTACTTTTG	0.647000														41			14		0	0	0.004007	0	0
ODZ3	55714	broad.mit.edu	37	4	183601743	183601743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:183601743C>T	uc003ivd.1	+	8	1762	c.1687C>T	c.(1687-1689)Cgc>Tgc	p.R563C	ODZ3_uc003ive.1_5'UTR	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	563	EGF-like 2.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CTCCAAGGGCCGCTGCCTGTG	0.557000														42			17		0	0	0.001523	0	0
NBEA	26960	broad.mit.edu	37	13	36242548	36242548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:36242548G>A	uc021rid.1	+	56	9176	c.8642G>A	c.(8641-8643)gGg>gAg	p.G2881E	NBEA_uc021ric.1_Missense_Mutation_p.G2878E|NBEA_uc010abi.3_Missense_Mutation_p.G1539E|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.G674E|NBEA_uc001uvd.3_Missense_Mutation_p.G459E	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2881						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTCACCGGAGGGGACAATGGG	0.443000														13			9		0	0	0.006214	0	0
TEX14	56155	broad.mit.edu	37	17	56693650	56693650	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:56693650G>C	uc010dcz.2	-	6	789	c.671C>G	c.(670-672)gCg>gGg	p.A224G	TEX14_uc002iwr.2_Missense_Mutation_p.A218G|TEX14_uc002iws.2_Missense_Mutation_p.A218G|TEX14_uc010dda.2_5'UTR	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	224						cytoplasm	ATP binding|protein kinase activity	p.A218V(1)|p.A224V(1)		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)					CATCTGTGTCGCCCCAGTAAG	0.468000														69			17		0	0	0.007413	0	0
DGKK	139189	broad.mit.edu	37	X	50127723	50127723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:50127723C>T	uc010njr.2	-	15	2491	c.2447G>A	c.(2446-2448)cGa>cAa	p.R816Q		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	816					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R612L(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTTACGGCGTCGTGGGCTTGT	0.398000														14			44		0	0	0.003214	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885999	88885999	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:88885999G>A	uc003ydz.3	-	0	298	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	67										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTGCCAAAGAGGAGGGATCCC	0.517000														38			14		0	0	0.004007	0	0
MTMR11	10903	broad.mit.edu	37	1	149905813	149905813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:149905813G>A	uc001etl.4	-	7	957	c.706C>T	c.(706-708)Cct>Tct	p.P236S	MTMR11_uc001etm.2_Missense_Mutation_p.P164S|MTMR11_uc010pbm.1_Missense_Mutation_p.P208S|MTMR11_uc010pbn.1_Missense_Mutation_p.P78S	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	236	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ATTCGGTTAGGGACCCAGAAG	0.478000														59			32		0	0	0.003755	0	0
CACNA1E	777	broad.mit.edu	37	1	181767742	181767742	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:181767742C>T	uc009wxt.3	+	47	6909	c.6714C>T	c.(6712-6714)gaC>gaT	p.D2238D	CACNA1E_uc001gow.3_Silent_p.D2195D|CACNA1E_uc009wxs.3_Silent_p.D2176D	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2238					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						TGCACGAAGACTCCCACGCCT	0.632000														8			4		0	0	0.000248	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112998569	112998569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:112998569C>T	uc001ebx.3	+	5	683	c.455C>T	c.(454-456)tCc>tTc	p.S152F	CTTNBP2NL_uc001ebz.3_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	152						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGAAAAATCCCAAGTGAAA	0.418000														20			8		0	0	0.003080	0	0
PCDH8	5100	broad.mit.edu	37	13	53422533	53422533	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:53422533G>A	uc001vhi.3	-	0	243	c.39C>T	c.(37-39)ttC>ttT	p.F13F	PCDH8_uc001vhj.3_Silent_p.F13F	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	13					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCTGCAAGGGGAAAAGGCAGG	0.607000														25			15		0	0	0.002450	0	0
RPH3A	22895	broad.mit.edu	37	12	113314570	113314570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:113314570C>T	uc010syl.2	+	12	1432	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F	RPH3A_uc001ttz.3_Missense_Mutation_p.S357F|RPH3A_uc001tty.3_Missense_Mutation_p.S353F|RPH3A_uc009zwe.1_Missense_Mutation_p.S353F|RPH3A_uc010sym.2_Missense_Mutation_p.S308F|RPH3A_uc001tua.3_Missense_Mutation_p.S117F	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	357	Pro-rich.				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)		GGACCCTATTCCCAAGCATCT	0.647000														25			9		0	0	0.004482	0	0
ZNF407	55628	broad.mit.edu	37	18	72346877	72346877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:72346877C>T	uc002llw.2	+	0	3955	c.3902C>T	c.(3901-3903)cCc>cTc	p.P1301L	ZNF407_uc010xfc.2_Missense_Mutation_p.P1301L|ZNF407_uc010dqu.2_Missense_Mutation_p.P1301L|ZNF407_uc002llu.2_Missense_Mutation_p.P1300L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAAGAAGATCCCGTTCTGGGG	0.448000														9			3		0	0	0.004672	0	0
ROS1	6098	broad.mit.edu	37	6	117737455	117737455	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:117737455T>C	uc003pxp.1	-	2	393	c.194A>G	c.(193-195)aAc>aGc	p.N65S	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	65					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCTACAGAGTTCCAAAAGTG	0.338000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									10			10		0	0	0.002450	0	0
MAST1	22983	broad.mit.edu	37	19	12958462	12958462	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:12958462C>T	uc002mvm.3	+	5	653	c.525C>T	c.(523-525)atC>atT	p.I175I	MAST1_uc021upp.1_5'UTR	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	175					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACAACGAGATCGTGATGATGA	0.652000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			19		0	0	0.002299	0	0
SPARCL1	8404	broad.mit.edu	37	4	88411474	88411474	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:88411474C>T	uc010ikm.3	-	7	2054	c.1482G>A	c.(1480-1482)ggG>ggA	p.G494G	SPARCL1_uc011cdc.2_Silent_p.G369G|SPARCL1_uc003hqs.4_Silent_p.G494G|SPARCL1_uc011cdd.2_Silent_p.G369G	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	494	Kazal-like.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CCTTTTTGGTCCCCTCCAGTC	0.458000														173			85		0	0	0.003610	0	0
SLC22A6	9356	broad.mit.edu	37	11	62752030	62752030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:62752030G>A	uc001nwk.3	-	0	466	c.133C>T	c.(133-135)Cct>Tct	p.P45S	SLC22A6_uc001nwl.3_Missense_Mutation_p.P45S|SLC22A6_uc001nwj.3_Missense_Mutation_p.P45S|SLC22A6_uc001nwm.3_Missense_Mutation_p.P45S	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	45					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGGTGGGTAGGGATGGCAGCA	0.667000														14			3		0	0	0.004672	0	0
EDNRA	1909	broad.mit.edu	37	4	148453693	148453693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:148453693G>A	uc003iky.3	+	3	1114	c.584G>A	c.(583-585)gGa>gAa	p.G195E	EDNRA_uc011cid.2_5'UTR|EDNRA_uc010ipg.2_Intron|EDNRA_uc010ipe.1_Silent_p.G152G|EDNRA_uc010ipf.1_Intron	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	195					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	p.Q194*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CGTGTTCAGGGAATTGGGATT	0.418000														65			31		0	0	0.002836	0	0
FNDC3B	64778	broad.mit.edu	37	3	172048392	172048393	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:172048392_172048393CC>AT	uc003fhy.3	+	12	1613_1614	c.1441_1442CC>AT	c.(1441-1443)cca>ATa	p.P481I	FNDC3B_uc003fhz.4_Missense_Mutation_p.P481I|FNDC3B_uc003fia.3_Missense_Mutation_p.P412I	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	481	Fibronectin type-III 3.			P -> L (in Ref. 2; AAQ88513).		endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GCCTTCTGCACCAAGGCTGGTT	0.495000														33			11		0	0	0.004672	0	0
SEMA3E	9723	broad.mit.edu	37	7	83119493	83119493	+	Silent	SNP	G	A	A	rs146189665		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:83119493G>A	uc003uhy.2	-	1	834	c.213C>T	c.(211-213)ttC>ttT	p.F71F	SEMA3E_uc022agy.1_Silent_p.F11F	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	71	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGCCTCCCACGAAGAGCCTCT	0.413000														24			13		0	0	0.001855	0	0
SLC9A5	6553	broad.mit.edu	37	16	67298344	67298344	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:67298344G>A	uc002esm.3	+	12	1995	c.1932G>A	c.(1930-1932)cgG>cgA	p.R644R	SLC9A5_uc010cee.3_Silent_p.R349R|SLC9A5_uc010vji.2_Silent_p.R148R	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	644					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.R643Q(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGAAGCGGCGGCTGGAGTCCT	0.577000														17			9		0	0	0.004482	0	0
PLCG1	5335	broad.mit.edu	37	20	39791897	39791897	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:39791897C>T	uc002xjp.1	+	7	892	c.771C>T	c.(769-771)ttC>ttT	p.F257F	PLCG1_uc002xjo.1_Silent_p.F257F|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.3_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	257					T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TCCAGCAGTTCCTTCTTGACT	0.597000														41			33		0	0	0.004878	0	0
ZNF676	163223	broad.mit.edu	37	19	22362994	22362994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:22362994C>T	uc002nqs.1	-	2	1843	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	509					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)				TTGCCACATTCTTCACATTTG	0.388000														13			11		0	0	0.000673	0	0
RPS4Y2	140032	broad.mit.edu	37	Y	22923205	22923205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrY:22923205C>T	uc011nbb.2	+	3	394	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C		NM_001039567	NP_001034656	Q8TD47	RS4Y2_HUMAN	Homo sapiens ribosomal protein S4, Y-linked 2 (RPS4Y2), mRNA.	100	S4 RNA-binding.				translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						TGAGCATTTCCGCCTGGTCTA	0.423000														10			12		0	0	0.003163	0	0
CD163L1	283316	broad.mit.edu	37	12	7556243	7556243	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:7556243C>T	uc010sge.2	-	5	1352	c.1326G>A	c.(1324-1326)tgG>tgA	p.W442*	CD163L1_uc001qsy.3_Nonsense_Mutation_p.W432*	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	432	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCTGTTTATCCAAATGTCTC	0.463000														34			15		0	0	0.003163	0	0
VCAM1	7412	broad.mit.edu	37	1	101194910	101194910	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:101194910G>A	uc001dti.3	+	4	1397	c.1176G>A	c.(1174-1176)ctG>ctA	p.L392L	VCAM1_uc010ouj.2_Silent_p.L330L|VCAM1_uc001dtj.3_Intron	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	392	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ATAAGAAACTGGAAAAGGGAA	0.423000														59			25		0	0	0.007291	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526076	176526076	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:176526076G>A	uc001gkz.3	+	1	1782	c.618G>A	c.(616-618)gcG>gcA	p.A206A	PAPPA2_uc001gky.1_Silent_p.A206A|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	206					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R205P(2)|p.R205W(1)		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						AGAGGCGGGCGGAAGATGGGC	0.567000														60			31		0	0	0.002445	0	0
CFH	3075	broad.mit.edu	37	1	196716296	196716296	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:196716296G>A	uc001gtj.4	+	21	3789	c.3549G>A	c.(3547-3549)tgG>tgA	p.W1183*	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1183	Sushi 20.		W -> C (in AHUS1).|W -> L (in AHUS1).|W -> R (in AHUS1).		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						CATTAAGGTGGACAGCCAAAC	0.348000														39			30		0	0	0.002836	0	0
CLCN1	1180	broad.mit.edu	37	7	143029876	143029876	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:143029876G>A	uc003wcr.1	+	11	1398	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A	CLCN1_uc011ktc.1_Intron	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	437			A -> T (in dbSNP:rs41276054).		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGAAACACGCGGGTGATCCTG	0.527000														65			49		0	0	0.003610	0	0
MICALL1	85377	broad.mit.edu	37	22	38313756	38313756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:38313756C>T	uc003aui.3	+	3	655	c.380C>T	c.(379-381)cCg>cTg	p.P127L		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	127						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CCCTGTTCCCCGCCGTCTGTA	0.617000														39			10		0	0	0.000978	0	0
KDM2A	22992	broad.mit.edu	37	11	67012770	67012770	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:67012770C>T	uc001ojw.3	+	13	2538	c.1674C>T	c.(1672-1674)tcC>tcT	p.S558S	KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Silent_p.S252S|KDM2A_uc010rpn.2_Silent_p.S119S|KDM2A_uc001ojz.1_Silent_p.S16S	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	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|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CTGCTGCCTCCCCGATTGTGT	0.557000														45			31		0	0	0.001786	0	0
CACNA1S	779	broad.mit.edu	37	1	201031215	201031215	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:201031215G>A	uc001gvv.3	-	23	3137	c.2910C>T	c.(2908-2910)ggC>ggT	p.G970G		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	970					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGTAGTAGTAGCCCCTGTGGC	0.617000														6			3		0	0	0.004672	0	0
KLHL3	26249	broad.mit.edu	37	5	137028034	137028034	+	Missense_Mutation	SNP	G	A	A	rs139384947		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:137028034G>A	uc010jek.3	-	4	910	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	KLHL3_uc003lbr.4_Missense_Mutation_p.R74C|KLHL3_uc011cyd.2_Non-coding_Transcript|MYOT_uc011cye.2_Intron|KLHL3_uc010jem.1_Missense_Mutation_p.R116C|KLHL3_uc010jen.1_Non-coding_Transcript|KLHL3_uc003lbs.1_Missense_Mutation_p.R24C	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	156						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GCAAATGCACGGATGCCCAGG	0.587000														5			9		0	0	0.004482	0	0
CALB1	793	broad.mit.edu	37	8	91072457	91072457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:91072457C>T	uc003yel.1	-	10	912	c.730G>A	c.(730-732)Gga>Aga	p.G244R	CALB1_uc011lge.1_Missense_Mutation_p.G187R	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	244						nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AGCTTCCCTCCATCCGACAAA	0.393000														39			14		0	0	0.003163	0	0
PAGE2B	389860	broad.mit.edu	37	X	55103945	55103945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:55103945G>A	uc004due.3	+	3	359	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	PAGE2B_uc022bxk.1_Missense_Mutation_p.V103M	NM_001015038	NP_001015038	Q5JRK9	GGEE3_HUMAN	Homo sapiens P antigen family, member 2B (PAGE2B), mRNA.	103										lung(3)	3						TCTCACTAAAGTGCTGGAAGC	0.393000														17			35		0	0	0.007835	0	0
TDO2	6999	broad.mit.edu	37	4	156839358	156839358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:156839358C>T	uc003ipf.1	+	10	1098	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F		NM_005651	NP_005642	P48775	T23O_HUMAN	Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	345					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	ACCGGTGGTTCCTCAGGCTAT	0.468000														25			10		0	0	0.001855	0	0
ZNF490	57474	broad.mit.edu	37	19	12691411	12691411	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:12691411T>C	uc002mtz.2	-	4	1607	c.1478A>G	c.(1477-1479)aAa>aGa	p.K493R		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						ATGAATTCTTTTGTGTACTTT	0.423000														49			23		0	0	0.001882	0	0
TMEM202	338949	broad.mit.edu	37	15	72699092	72699092	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:72699092G>A	uc002auq.3	+	3	487	c.487_splice	c.e3+1	p.A163_splice	TMEM202_uc002aur.3_Splice_Site	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	163						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTTCATCTCAGGTACAGACCT	0.433000														110			45		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13807809	13807809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:13807809C>T	uc003jfd.2	-	46	7820	c.7778G>A	c.(7777-7779)gGa>gAa	p.G2593E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2593	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTGGCTGTTCCTTGTTCACC	0.348000									Kartagener syndrome					5			5		0	0	0.003080	0	0
OPRK1	4986	broad.mit.edu	37	8	54142013	54142013	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:54142013G>A	uc003xrh.1	-	2	1362	c.987C>T	c.(985-987)ctC>ctT	p.L329L	OPRK1_uc022aup.1_Silent_p.L209L|OPRK1_uc003xri.1_Silent_p.L329L|OPRK1_uc010lyc.1_Silent_p.L240L	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	329					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GAAAGGCGTAGAGAATGGGAT	0.517000														33			8		0	0	0.003080	0	0
SELE	6401	broad.mit.edu	37	1	169695926	169695926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:169695926G>A	uc001ggm.4	-	10	1824	c.1667C>T	c.(1666-1668)cCc>cTc	p.P556L	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	556					actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AGCTACCAAGGGAATGTTGGA	0.473000														12			8		0	0	0.003080	0	0
SAG	6295	broad.mit.edu	37	2	234237135	234237135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:234237135G>A	uc002vuh.2	+	7	912	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	SAG_uc010zmq.1_Missense_Mutation_p.R41Q	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	175					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AGCTCCGTGCGATTACTGATC	0.592000														45			28		0	0	0.003755	0	0
FSIP2	401024	broad.mit.edu	37	2	186672381	186672381	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:186672381C>T	uc002upl.3	+	16	18615	c.18615C>T	c.(18613-18615)aaC>aaT	p.N6205N	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						TTTCAGAAAACATAGTTGACT	0.393000														42			22		0	0	0.001882	0	0
CD248	57124	broad.mit.edu	37	11	66083162	66083162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:66083162G>A	uc001ohm.1	-	0	1354	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	446	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CCGGGTGACGGAGAGCACTGA	0.657000														72			36		0	0	0.004878	0	0
DOCK3	1795	broad.mit.edu	37	3	51418527	51418527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:51418527G>A	uc011bds.2	+	52	5653	c.5630G>A	c.(5629-5631)gGt>gAt	p.G1877D		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1877						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)		CCCCAGTCAGGTCTGGACGGC	0.617000														30			19		0	0	0.003330	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302455	15302455	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:15302455C>T	uc002nan.3	-	5	892	c.816G>A	c.(814-816)acG>acA	p.T272T	NOTCH3_uc002nao.1_Silent_p.T272T	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	272	EGF-like 6; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCACGTCCTCCGTGCAGAACT	0.652000														15			14		0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179571401	179571401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179571401C>T	uc021vsy.1	-	98	25693	c.25468G>A	c.(25468-25470)Ggg>Agg	p.G8490R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G5151R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9417	Ig-like 67.						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)			CTCCACTTCCCTTTTGTCCAT	0.408000														81			43		0	0	0.002852	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751234	19751234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:19751234C>T	uc009zzj.3	-	3	994	c.889G>A	c.(889-891)Gag>Aag	p.E297K		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	297					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TTGGCTGGCTCGAAGCAGGCA	0.607000														63			32		0	0	0.004289	0	0
NAGLU	4669	broad.mit.edu	37	17	40690485	40690485	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:40690485C>T	uc002hzv.3	+	2	1000	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	220						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCTGGCACATCAAGCAGCTTT	0.587000														52			20		0	0	0.002780	0	0
NRAP	4892	broad.mit.edu	37	10	115350452	115350452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:115350452C>T	uc001lal.3	-	39	5005	c.4841G>A	c.(4840-4842)aGg>aAg	p.R1614K	NRAP_uc009xyb.3_Missense_Mutation_p.R367K|NRAP_uc001laj.3_Missense_Mutation_p.R1614K|NRAP_uc001lak.3_Missense_Mutation_p.R1579K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1614						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTGCTGGCTCCTCTTGGCCTG	0.632000														68			20		0	0	0.001216	0	0
OR5M11	219487	broad.mit.edu	37	11	56310298	56310298	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:56310298A>T	uc010rjl.2	-	0	436	c.436T>A	c.(436-438)Ttt>Att	p.F146I	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T145K(1)|p.T145S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACATAGGGAAATGTGGCCAAG	0.517000														17			6		0	0	0.001168	0	0
C19orf53	28974	broad.mit.edu	37	19	13888974	13888974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:13888974G>A	uc002mxg.3	+	2	297	c.262G>A	c.(262-264)Ggg>Agg	p.G88R		NM_014047	NP_054766	Q9UNZ5	L10K_HUMAN	Homo sapiens chromosome 19 open reading frame 53 (C19orf53), mRNA.	88										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			CAAGAAGAAAGGGGCAGCTGC	0.597000														43			14		0	0	0.001855	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96581911	96581911	+	RNA	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:96581911G>A	uc002sva.1	-	17		c.860C>T			ANKRD36C_uc002svc.1_Non-coding_Transcript					Homo sapiens cDNA FLJ41632 fis, clone FCBBF1000297, highly similar to Human protein immuno-reactive with anti-PTH polyclonal antibodies mRNA.											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GGTTTTTTCCGAGAAGACACT	0.343000														7			10		0	0	0.001368	0	0
GABRA2	2555	broad.mit.edu	37	4	46307625	46307625	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:46307625C>T	uc011bzc.1	-	5	910	c.498G>A	c.(496-498)ctG>ctA	p.L166L	GABRA2_uc003gxc.3_Silent_p.L221L|GABRA2_uc010igc.2_Silent_p.L221L|GABRA2_uc003gxe.3_Silent_p.L221L			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	221					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.C166Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTGATTGGCCCAGCAGGTCAT	0.368000														40			19		0	0	0.001216	0	0
GRAMD4	23151	broad.mit.edu	37	22	47059987	47059987	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:47059987C>T	uc003bhx.3	+	6	739	c.690C>T	c.(688-690)tcC>tcT	p.S230S	GRAMD4_uc010had.3_Silent_p.S169S	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	230					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		ACTGGTACTCCGTCTACACGT	0.597000														55			27		0	0	0.001786	0	0
LLGL1	3996	broad.mit.edu	37	17	18143971	18143971	+	Silent	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:18143971A>G	uc002gsp.3	+	16	2347	c.2286A>G	c.(2284-2286)gcA>gcG	p.A762A		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	762					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TGCCGGCAGCAGCAGTGGGTG	0.662000														21			18		0	0	0.004990	0	0
HRNR	388697	broad.mit.edu	37	1	152188153	152188153	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:152188153G>A	uc001ezt.1	-	2	6028	c.5952C>T	c.(5950-5952)tcC>tcT	p.S1984S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1984					keratinization		calcium ion binding|protein binding	p.S1984S(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGAGTGACCGGAGCCAGACT	0.592000														459			17		0	0	0.003330	0	0
BARD1	580	broad.mit.edu	37	2	215645294	215645294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:215645294G>A	uc002veu.2	-	3	1439	c.1304C>T	c.(1303-1305)gCt>gTt	p.A435V	BARD1_uc021vwe.1_Missense_Mutation_p.A416V|BARD1_uc021vwf.1_Missense_Mutation_p.A338V|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_Missense_Mutation_p.A291V|BARD1_uc021vwj.1_Intron	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	435					DNA repair|cell cycle arrest|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	RNA binding|kinase binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTAATAGAAGCAATATGGAG	0.393000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					7			8		0	0	0.006214	0	0
PLCB4	5332	broad.mit.edu	37	20	9351883	9351883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:9351883G>A	uc021wam.1	+	6	541	c.526G>A	c.(526-528)Gga>Aga	p.G176R	PLCB4_uc010gbw.1_Missense_Mutation_p.G176R|PLCB4_uc010gbx.3_Missense_Mutation_p.G176R|PLCB4_uc021wal.1_Missense_Mutation_p.G176R|PLCB4_uc002wnh.3_Missense_Mutation_p.G23R	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	176					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.G176E(1)|p.S175S(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTTGCATCGGGAAAAACAGA	0.358000														54			18		0	0	0.001216	0	0
ZNF587	84914	broad.mit.edu	37	19	58370775	58370775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:58370775C>T	uc002qql.3	+	2	1221	c.995C>T	c.(994-996)tCt>tTt	p.S332F	ZNF587_uc002qqb.2_Missense_Mutation_p.S289F|ZNF587_uc002qqi.2_Missense_Mutation_p.S289F|ZNF587_uc010yhh.2_Missense_Mutation_p.S289F|ZNF587_uc021vco.1_Missense_Mutation_p.S332F|ZNF587_uc002qqj.1_Non-coding_Transcript|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.2_Missense_Mutation_p.S331F|ZNF587_uc021vcq.1_5'Flank	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	Homo sapiens zinc finger protein 587 (ZNF587), transcript variant 1, mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TGTGGGAAATCTTTTGGTCAA	0.458000														78			44		0	0	0.003610	0	0
CARD11	84433	broad.mit.edu	37	7	2952950	2952951	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:2952950_2952951CC>TT	uc003smv.3	-	21	3323_3324	c.2989_2990GG>AA	c.(2989-2991)ggt>AAt	p.G997N		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	997	Guanylate kinase-like.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCCATGGCACCTCCCGAGTTG	0.668000			Mis		DLBCL									60			23		0	0	0.004672	0	0
FMN2	56776	broad.mit.edu	37	1	240370124	240370124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:240370124G>A	uc010pye.2	+	5	2249	c.2024G>A	c.(2023-2025)gGa>gAa	p.G675E	FMN2_uc010pyd.2_Missense_Mutation_p.G671E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	671					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)			AAGTCTGAGGGACAGGCCACT	0.428000														25			13		0	0	0.004007	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202914124	202914124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:202914124G>A	uc001gyq.4	-	4	871	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	ADIPOR1_uc010pqd.2_Missense_Mutation_p.R126W|ADIPOR1_uc001gyr.4_Intron|ADIPOR1_uc001gys.4_Missense_Mutation_p.R202W	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	202					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	p.R202R(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GAAAAAGTCCGAGAGACTTTC	0.453000														75			39		0	0	0.002222	0	0
MTERFD2	130916	broad.mit.edu	37	2	242039099	242039099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:242039099G>A	uc002wan.1	-	0	812	c.319C>T	c.(319-321)Ctt>Ttt	p.L107F	MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.L78F	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	Homo sapiens MTERF domain containing 2 (MTERFD2), transcript variant 1, mRNA.	78										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TGCTTCTCAAGGAGGCACTGA	0.493000														38			30		0	0	0.001512	0	0
MXRA5	25878	broad.mit.edu	37	X	3261829	3261829	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:3261829G>A	uc004crg.4	-	1	203	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	16						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)				CCCCAAAGCAGGATCAGCACC	0.642000														4			9		0	0	0.000673	0	0
SCAF1	58506	broad.mit.edu	37	19	50156133	50156133	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:50156133G>A	uc002poq.3	+	6	2611	c.2487G>A	c.(2485-2487)cgG>cgA	p.R829R		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	829					RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GTTCTTCCCGGAAGGTGAAGC	0.677000														13			8		0	0	0.006214	0	0
GAPDHS	26330	broad.mit.edu	37	19	36029566	36029566	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:36029566G>A	uc002oaf.1	+	3	546	c.430G>A	c.(430-432)Gag>Aag	p.E144K		NM_014364	NP_055179	O14556	G3PT_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), mRNA.	144					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	NAD binding|glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	GGACAACCATGAGATCTCTGT	0.512000														21			13		0	0	0.002450	0	0
SLC22A25	387601	broad.mit.edu	37	11	62997106	62997106	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:62997106G>A	uc001nwr.1	-	0	19	c.19C>T	c.(19-21)Cta>Tta	p.L7L	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Silent_p.L7L	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	7					transmembrane transport	integral to membrane		p.L6I(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						ACTTGATCTAGGAGGTCCTGA	0.423000														22			19		0	0	0.007413	0	0
DGKB	1607	broad.mit.edu	37	7	14620486	14620487	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:14620486_14620487CC>TT	uc003ssz.3	-	18	1799	c.1612_splice	c.e18+1	p.G538_splice	DGKB_uc011jxt.2_Splice_Site_p.G519_splice|DGKB_uc003sta.3_Splice_Site_p.G538_splice|DGKB_uc011jxu.2_Splice_Site_p.G537_splice	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	538	DAGKc.				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|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	AGCTGCTTTACCTCCTCCCCAT	0.436000														35			11		0	0	0.004672	0	0
OR5A2	219981	broad.mit.edu	37	11	59190041	59190041	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:59190041T>C	uc010rkt.2	-	0	386	c.386A>G	c.(385-387)aAc>aGc	p.N129S		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						AAGCAAGGGGTTGCAGATTGC	0.478000														18			9		0	0	0.006214	0	0
SCN11A	11280	broad.mit.edu	37	3	38927620	38927620	+	Missense_Mutation	SNP	C	T	T	rs34292484		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:38927620C>T	uc021wvy.1	-	15	3144	c.2945G>A	c.(2944-2946)cGa>cAa	p.R982Q	SCN11A_uc010hhn.1_Intron	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	982					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AATTACCTTTCGGGGATCCTG	0.448000														37			16		0	0	0.001216	0	0
ANKMY1	51281	broad.mit.edu	37	2	241465794	241465794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:241465794G>A	uc010fzd.1	-	5	1147	c.1022C>T	c.(1021-1023)cCc>cTc	p.P341L	ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Missense_Mutation_p.P252L|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	252							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGGCCCACAGGGTGCAAAGCC	0.527000														24			11		0	0	0.000978	0	0
LPIN1	23175	broad.mit.edu	37	2	11923964	11923964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:11923964G>A	uc010yjm.2	+	9	1474	c.1421G>A	c.(1420-1422)aGc>aAc	p.S474N	LPIN1_uc010yjn.2_Missense_Mutation_p.S389N|LPIN1_uc002rbt.3_Missense_Mutation_p.S389N|LPIN1_uc002rbs.3_Missense_Mutation_p.S425N	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	389					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GATAAACGAAGCCGACATCTT	0.428000														128			67		0	0	0.003610	0	0
CCDC81	60494	broad.mit.edu	37	11	86131096	86131096	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:86131096G>A	uc001pbx.2	+	14	2245	c.1817_splice	c.e14+1	p.R606_splice	CCDC81_uc001pbw.2_Splice_Site_p.R516_splice|CCDC81_uc010rtq.2_Splice_Site_p.R389_splice|CCDC81_uc001pby.2_Splice_Site_p.R341_splice	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	606										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CTTTTGAACGGTAATGCCTGA	0.502000														40			19		0	0	0.001216	0	0
SNRPN	6638	broad.mit.edu	37	15	25438355	25438355	+	RNA	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:25438355C>T	uc001yzf.1	+	2		c.233C>T			SNRPN_uc001yzh.2_5'Flank|SNORD115-14_uc001yzj.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TGCTGAGCCCCTGGTGCACTG	0.597000									Prader-Willi syndrome					21			6		0	0	0.001168	0	0
MESP2	145873	broad.mit.edu	37	15	90321454	90321454	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:90321454C>T	uc002bon.3	+	1	1083	c.1083C>T	c.(1081-1083)gcC>gcT	p.A361A	MESP2_uc010uqa.2_Silent_p.A63A	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	361					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CGGGCGCCGCCTTCCAGCTCA	0.657000														12			13		0	0	0.001855	0	0
NOS1	4842	broad.mit.edu	37	12	117703233	117703233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:117703233C>T	uc001twn.2	-	11	2735	c.2024G>A	c.(2023-2025)gGg>gAg	p.G675E	NOS1_uc021ren.1_Missense_Mutation_p.G339E|NOS1_uc021reo.1_Missense_Mutation_p.G339E|NOS1_uc001twm.2_Missense_Mutation_p.G675E	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	675					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.G675G(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)	AGGGCAGCCCCCCCGGCAGCG	0.607000														5			8		0	0	0.003080	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216336	20216336	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:20216336G>A	uc010tkt.2	+	0	750	c.750G>A	c.(748-750)ctG>ctA	p.L250L		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTCAGCCTGATCTTCGTGC	0.458000														69			33		0	0	0.006999	0	0
DGKB	1607	broad.mit.edu	37	7	14613939	14613939	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:14613939G>A	uc003ssz.3	-	18	1858	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	DGKB_uc011jxt.2_Silent_p.I538I|DGKB_uc003sta.3_Silent_p.I557I|DGKB_uc011jxu.2_Silent_p.I556I	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	557	DAGKc.				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|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGTCCAACATGATTTCTGTGC	0.368000														59			36		0	0	0.003755	0	0
TRIM55	84675	broad.mit.edu	37	8	67039668	67039668	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:67039668C>T	uc003xvv.3	+	0	391	c.165C>T	c.(163-165)ttC>ttT	p.F55F	TRIM55_uc003xvu.3_Silent_p.F55F|TRIM55_uc003xvw.3_Silent_p.F55F|TRIM55_uc003xvx.3_Silent_p.F55F	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	55						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GTGATATTTTCCAGGTAGGTT	0.438000														211			42		0	0	0.003214	0	0
OR52I2	143502	broad.mit.edu	37	11	4608931	4608931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:4608931G>A	uc010qyh.2	+	0	911	c.889G>A	c.(889-891)Gat>Aat	p.D297N		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D297G(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTGGGGCAGGATGTAGTGCC	0.512000														41			34		0	0	0.004878	0	0
OBSCN	84033	broad.mit.edu	37	1	228432138	228432138	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:228432138C>A	uc009xez.1	+	10	3391	c.3347C>A	c.(3346-3348)tCc>tAc	p.S1116Y	OBSCN_uc001hsn.3_Missense_Mutation_p.S1116Y	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1116	Ig-like 11.|Poly-Ser.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAGCTGAGCTCCAGCTCAAAA	0.637000														34			18		5.35267e-07	6.66695e-07	0.007413	1	0
RDH8	50700	broad.mit.edu	37	19	10129494	10129494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:10129494G>A	uc002mmr.3	+	2	599	c.350G>A	c.(349-351)gGa>gAa	p.G117E		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	117					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AACTTTTTCGGAGCTGTCCGT	0.577000														58			25		0	0	0.003330	0	0
NOL4	8715	broad.mit.edu	37	18	31673492	31673492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:31673492C>T	uc010dmi.3	-	4	1007	c.709G>A	c.(709-711)Gat>Aat	p.D237N	NOL4_uc002kxr.4_Missense_Mutation_p.D73N|NOL4_uc010xbt.2_Missense_Mutation_p.D163N|NOL4_uc010dmh.3_Missense_Mutation_p.D163N|NOL4_uc010xbu.2_Missense_Mutation_p.D237N|NOL4_uc002kxt.4_Missense_Mutation_p.D237N	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	237						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GAGCTAAGATCAGAGTTCACA	0.363000														10			18		0	0	0.004990	0	0
PTX4	390667	broad.mit.edu	37	16	1537418	1537418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:1537418C>T	uc010uvf.2	-	1	680	c.680G>A	c.(679-681)gGg>gAg	p.G227E		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	232						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CTCCCGCCTCCCTTGGAGAGG	0.687000														18			11		0	0	0.001855	0	0
CACNA1S	779	broad.mit.edu	37	1	201035439	201035439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:201035439C>T	uc001gvv.3	-	20	2890	c.2663G>A	c.(2662-2664)aGt>aAt	p.S888N		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	888					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGAGATGGCACTGGACCTGGG	0.657000														34			11		0	0	0.001368	0	0
ALPK2	115701	broad.mit.edu	37	18	56184389	56184389	+	Silent	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr18:56184389T>C	uc002lhj.4	-	8	5905	c.5691A>G	c.(5689-5691)caA>caG	p.Q1897Q		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1897							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAAGATGAGTTGGCTGAATT	0.532000														5			8		0	0	0.000673	0	0
CASC5	57082	broad.mit.edu	37	15	40901050	40901050	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:40901050C>T	uc010bbs.1	+	4	302	c.141C>T	c.(139-141)tcC>tcT	p.S47S	CASC5_uc010ucq.1_5'UTR|CASC5_uc001zme.3_Silent_p.S47S|CASC5_uc010bbt.1_Silent_p.S47S	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	47	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTTAGGAATCCAATGCTTTGA	0.313000														19			5		0	0	0.000602	0	0
BTNL8	79908	broad.mit.edu	37	5	180377111	180377111	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:180377111T>G	uc003mmp.3	+	7	1304	c.1070T>G	c.(1069-1071)gTg>gGg	p.V357G	BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Missense_Mutation_p.V232G|BTNL8_uc010jlm.3_Missense_Mutation_p.V241G|BTNL8_uc011dhh.2_Missense_Mutation_p.V173G	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	357	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCGTGGGAGTGTGCCGGGAT	0.502000														12			18		0	0	0.001216	0	0
TNR	7143	broad.mit.edu	37	1	175375790	175375790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:175375790G>A	uc001gkp.1	-	0	142	c.61C>T	c.(61-63)Ctt>Ttt	p.L21F	TNR_uc009wwu.1_Missense_Mutation_p.L21F|TNR_uc010pmz.1_Missense_Mutation_p.L21F	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	21					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.I20I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAGCCCAGAAGGATCAGGTTG	0.552000														60			26		0	0	0.003954	0	0
JPH3	57338	broad.mit.edu	37	16	87723259	87723259	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:87723259G>A	uc002fkd.3	+	3	1547	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	431					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CAGGGCTGGAGTACCAGAGGC	0.667000														2			5		0	0	0.001168	0	0
JPH1	56704	broad.mit.edu	37	8	75227679	75227679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:75227679G>A	uc003yae.3	-	1	596	c.556C>T	c.(556-558)Ccg>Tcg	p.P186S	JPH1_uc003yaf.3_Missense_Mutation_p.P186S|JPH1_uc003yag.1_Missense_Mutation_p.P50S	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	186					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GTGCCGGCCGGGCTGTCGGCG	0.701000														24			4		0	0	0.000248	0	0
EPB41L5	57669	broad.mit.edu	37	2	120858317	120858317	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:120858317T>G	uc002tmg.3	+	15	1455	c.1264T>G	c.(1264-1266)Tcc>Gcc	p.S422A	EPB41L5_uc010flk.3_Missense_Mutation_p.S422A|EPB41L5_uc010fll.3_Missense_Mutation_p.S422A|EPB41L5_uc002tmh.4_Missense_Mutation_p.S422A|EPB41L5_uc010flm.3_Missense_Mutation_p.S226A	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	422						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TCCTTccatttcctctgctcc	0.413000														9			8		0	0	0.004482	0	0
MEPCE	56257	broad.mit.edu	37	7	100029261	100029261	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:100029261C>T	uc003uuw.3	+	0	2008	c.1620C>T	c.(1618-1620)ccC>ccT	p.P540P	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Silent_p.P71P|MEPCE_uc022aio.1_Silent_p.P71P|MEPCE_uc003uuv.3_Silent_p.P71P	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	540	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCAAGTGCCCTTGGATGGAG	0.607000														20			5		0	0	0.000602	0	0
TNR	7143	broad.mit.edu	37	1	175355369	175355369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:175355369G>A	uc001gkp.1	-	5	1657	c.1576C>T	c.(1576-1578)Ccc>Tcc	p.P526S	TNR_uc009wwu.1_Missense_Mutation_p.P526S	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	526	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCTCGAGGGGGAATCCACTCC	0.542000														12			5		0	0	0.001168	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47123661	47123661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:47123661G>A	uc002iom.3	+	13	1901	c.1567G>A	c.(1567-1569)Gta>Ata	p.V523I	IGF2BP1_uc010dbj.3_Missense_Mutation_p.V384I	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	523	KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGAGGTGGTAGTACCAAGAGA	0.547000														32			23		0	0	0.003954	0	0
ANGPTL7	10218	broad.mit.edu	37	1	11254941	11254942	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:11254941_11254942CC>TT	uc001ase.3	+	4	1141_1142	c.902_903CC>TT	c.(901-903)tcc>tTT	p.S301F	MTOR_uc001asd.3_Intron	NM_021146	NP_066969	O43827	ANGL7_HUMAN	Homo sapiens angiopoietin-like 7 (ANGPTL7), mRNA.	301	Fibrinogen C-terminal.				response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		TGCACAGACTCCAACCTCAATG	0.515000														24			10		0	0	0.004672	0	0
NLRP11	204801	broad.mit.edu	37	19	56321022	56321022	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:56321022C>T	uc010ygf.2	-	4	1665	c.954G>A	c.(952-954)agG>agA	p.R318R	NLRP11_uc002qlz.3_Silent_p.R219R|NLRP11_uc002qmb.3_Silent_p.R219R|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	318	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTGCCGACGCCCTCTGGCGGT	0.498000														13			9		0	0	0.004482	0	0
FAM74A3	728495	broad.mit.edu	37	9	40716266	40716266	+	RNA	SNP	A	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:40716266A>T	uc010mmk.2	+	0		c.743A>T								Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CATCAATTTTAGTAATTCAGG	0.428000														45			7		0	0	0.004482	0	0
GYS2	2998	broad.mit.edu	37	12	21728963	21728963	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:21728963C>T	uc001rfb.3	-	2	587	c.332G>A	c.(331-333)gGa>gAa	p.G111E		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	111					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.E110*(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATAAGGACTTCCTTCTATCAG	0.433000														38			16		0	0	0.003163	0	0
ANTXR2	118429	broad.mit.edu	37	4	80952847	80952847	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:80952847C>T	uc003hlz.4	-	10	1560	c.797_splice	c.e10-1	p.S266_splice	ANTXR2_uc003hly.4_Splice_Site_p.S266_splice|ANTXR2_uc003hlx.1_Splice_Site|ANTXR2_uc010ijn.3_Intron	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA.	266						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GGTTTTACACCTAGAAAATAA	0.323000									Juvenile Hyaline Fibromatosis					6			3		0	0	0.000248	0	0
XKR4	114786	broad.mit.edu	37	8	56436480	56436480	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:56436480C>T	uc003xsf.3	+	2	1679	c.1647C>T	c.(1645-1647)atC>atT	p.I549I		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	549						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TACGGTCCATCTCCAACAACC	0.592000														48			15		0	0	0.004990	0	0
NKAIN2	154215	broad.mit.edu	37	6	124979392	124979392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:124979392G>A	uc003pzo.3	+	3	611	c.334G>A	c.(334-336)Gga>Aga	p.G112R	NKAIN2_uc003pzn.1_Missense_Mutation_p.G112R|NKAIN2_uc010keq.3_Intron|NKAIN2_uc003pzp.3_Missense_Mutation_p.G111R|NKAIN2_uc010ker.3_Missense_Mutation_p.G22R	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA.	112						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		GATGGAGAATGGACCAGGATG	0.473000														20			20		0	0	0.002780	0	0
SLIT2	9353	broad.mit.edu	37	4	20611732	20611732	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:20611732C>T	uc003gpr.1	+	33	3993	c.3789C>T	c.(3787-3789)atC>atT	p.I1263I	SLIT2_uc003gps.1_Silent_p.I1255I	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1263	Laminin G-like.				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						ACCCCAAAATCATCACTAACT	0.453000														19			11		0	0	0.000978	0	0
RGS12	6002	broad.mit.edu	37	4	3318983	3318983	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:3318983G>A	uc003ggw.3	+	1	1990	c.1086G>A	c.(1084-1086)gaG>gaA	p.E362E	RGS12_uc003ggu.2_Silent_p.E362E|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Silent_p.E362E|RGS12_uc003ggx.1_Silent_p.E362E	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	362						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGGGTTTGAGTGCACGGCCG	0.592000														43			17		0	0	0.004990	0	0
KLK9	284366	broad.mit.edu	37	19	51512788	51512788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:51512788G>A	uc002pux.1	-	0	103	c.16C>T	c.(16-18)Ctc>Ttc	p.L6F	KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.P29L	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA.	6					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		AGAGCACAGAGGAGTCCCAGC	0.607000														14			14		0	0	0.002450	0	0
DRGX	644168	broad.mit.edu	37	10	50574372	50574372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:50574372G>A	uc010qgq.2	-	5	596	c.596C>T	c.(595-597)cCc>cTc	p.P199L	DRGX_uc021pqd.1_Missense_Mutation_p.P194L	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	199					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GCCATAGGTGGGAAGGAAGGA	0.607000														35			25		0	0	0.004656	0	0
DNAH7	56171	broad.mit.edu	37	2	196753008	196753008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:196753008C>T	uc002utj.4	-	32	5481	c.5380G>A	c.(5380-5382)Gtt>Att	p.V1794I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1794	AAA 2 (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						ATAAATTCAACCGAAACAGGG	0.328000														13			6		0	0	0.003080	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450057	105450057	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:105450057A>G	uc022cca.1	+	0	632	c.632A>G	c.(631-633)aAg>aGg	p.K211R	MUM1L1_uc004emg.2_Missense_Mutation_p.K211R|MUM1L1_uc004emf.2_Missense_Mutation_p.K211R	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	211										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AACAAGAATAAGATTGATATC	0.383000														2			12		0	0	0.001368	0	0
SIRT1	23411	broad.mit.edu	37	10	69651312	69651312	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:69651312G>A	uc001jnd.3	+	4	995	c.942_splice	c.e4+1	p.K314_splice	SIRT1_uc010qis.2_Splice_Site_p.K19_splice|SIRT1_uc009xpp.3_Splice_Site_p.K122_splice|SIRT1_uc001jne.3_Splice_Site	NM_012238	NP_001135970	Q96EB6	SIRT1_HUMAN	Homo sapiens sirtuin 1 (SIRT1), transcript variant 1, mRNA.	314	Deacetylase sirtuin-type.				DNA repair|DNA replication|apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of DNA repair|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|rRNA processing|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	PML body|chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|rDNA heterochromatin	HLH domain binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|bHLH transcription factor binding|histone binding|identical protein binding|mitogen-activated protein kinase binding|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AGTTTGCAAAGGTACTATGAA	0.378000														97			50		0	0	0.003610	0	0
NR4A2	4929	broad.mit.edu	37	2	157186237	157186237	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:157186237C>T	uc002tyz.4	-	2	884	c.462G>A	c.(460-462)caG>caA	p.Q154Q	NR4A2_uc021vri.1_Silent_p.Q154Q|NR4A2_uc002tyx.4_Silent_p.Q91Q|NR4A2_uc010zcf.2_Silent_p.Q154Q|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	154	Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CCACGTAGTTCTGGTGGAAGT	0.632000														77			48		0	0	0.003214	0	0
ATF6	22926	broad.mit.edu	37	1	161821621	161821621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:161821621C>T	uc001gbs.3	+	10	1546	c.1429C>T	c.(1429-1431)Ctc>Ttc	p.L477F	ATF6_uc001gbq.2_Missense_Mutation_p.L477F	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	477					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			AACAGAGTCTCTCAGGTGAGT	0.413000														57			21		0	0	0.002299	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47585801	47585801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:47585801C>T	uc002xtx.4	+	8	1329	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	393					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGGTGAAGGCCCTCCAGACCC	0.527000														40			29		0	0	0.002445	0	0
CDK4	1019	broad.mit.edu	37	12	58143034	58143035	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:58143034_58143035GG>AT	uc001spv.3	-	6	1041_1042	c.749_750CC>AT	c.(748-750)ccc>cAT	p.P250H	CDK4_uc010ssb.2_Missense_Mutation_p.P130H|CDK4_uc001spw.3_Non-coding_Transcript|DM110804_uc010ssc.1_5'Flank	NM_000075	NP_000066	P11802	CDK4_HUMAN	Homo sapiens cyclin-dependent kinase 4 (CDK4), mRNA.	250	Protein kinase.				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GCCCTCTGGGGGGAAAGGCTCC	0.639000			Mis			melanoma			Hereditary Melanoma					33			16		0	0	0.004672	0	0
HECW2	57520	broad.mit.edu	37	2	197297971	197297971	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:197297971G>A	uc002utm.1	-	1	360	c.177C>T	c.(175-177)tcC>tcT	p.S59S		NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	59					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						CAGTTAAGCTGGAGCGGCTCT	0.572000														38			15		0	0	0.006122	0	0
UGT8	7368	broad.mit.edu	37	4	115544111	115544111	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:115544111C>T	uc003ibs.2	+	1	597	c.75C>T	c.(73-75)atC>atT	p.I25I	UGT8_uc003ibt.2_Silent_p.I25I|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	25					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AAATCATCATCGTGCCGCCAA	0.453000														21			8		0	0	0.004482	0	0
ACACB	32	broad.mit.edu	37	12	109673144	109673144	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:109673144C>T	uc001tob.3	+	31	4493	c.4374C>T	c.(4372-4374)ctC>ctT	p.L1458L	ACACB_uc001toc.3_Silent_p.L1458L|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.L124L	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1458					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)	ATTATGGACTCCGACGAATCA	0.388000														40			14		0	0	0.004007	0	0
OR10K2	391107	broad.mit.edu	37	1	158390228	158390228	+	Silent	SNP	T	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:158390228T>G	uc010pii.2	-	0	429	c.429A>C	c.(427-429)ggA>ggC	p.G143G		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CAGCCACTAGTCCCATACACA	0.488000														41			5		0	0	0.000673	0	0
AKR1C4	1109	broad.mit.edu	37	10	5242283	5242283	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:5242283A>G	uc001ihw.2	+	1	257	c.224A>G	c.(223-225)aAg>aGg	p.K75R		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	75					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	GGCAGTGTGAAGAGAGAAGAC	0.418000														49			23		0	0	0.003954	0	0
THSD7B	80731	broad.mit.edu	37	2	138413140	138413140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:138413140C>T	uc002tva.1	+	20	3925	c.3925C>T	c.(3925-3927)Cat>Tat	p.H1309Y	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)		TTCAATATCTCATGCAGCTGG	0.512000														6			6		0	0	0.003080	0	0
KIF17	57576	broad.mit.edu	37	1	21011438	21011439	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:21011438_21011439CC>TT	uc001bdr.4	-	9	2212_2213	c.2094_2095GG>AA	c.(2092-2097)caggcc>caAAcc	p.A699T	KIF17_uc001bdp.4_5'UTR|KIF17_uc009vpx.3_Missense_Mutation_p.A69T|KIF17_uc001bds.4_Missense_Mutation_p.A699T	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	699					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)		GCCACCGGGGCCTGAGCCTCCA	0.649000														6			3		0	0	0.004672	0	0
SHANK2	22941	broad.mit.edu	37	11	70331925	70331925	+	Silent	SNP	G	A	A	rs140434354		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:70331925G>A	uc001oqc.3	-	20	4387	c.4275C>T	c.(4273-4275)atC>atT	p.I1425I	SHANK2_uc010rqn.2_Silent_p.I901I|SHANK2_uc001opz.3_Silent_p.I896I|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1112	SAM.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCACCTCCTCGATCCCAGAGT	0.592000														22			13		0	0	0.003163	0	0
SLC45A3	85414	broad.mit.edu	37	1	205589704	205589704	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:205589704G>A	uc001hcy.2	-	2	1720	c.470C>T	c.(469-471)tCc>tTc	p.S157F	SLC45A3_uc021pid.1_Non-coding_Transcript|SLC45A3_uc001hcz.3_Missense_Mutation_p.S157F	NM_001973	NP_001964	Q96JT2	S45A3_HUMAN	Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA.	0					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TACATTGGAGGAGTTCAAAGA	0.433000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									33			21		0	0	0.002780	0	0
TEX11	56159	broad.mit.edu	37	X	70073179	70073179	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:70073179C>T	uc004dyl.3	-	7	532	c.370_splice	c.e7-1	p.M124_splice	TEX11_uc004dym.3_Splice_Site_p.M109_splice	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	124							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCATATTCATCTAGAAGAGAG	0.348000														1			8		0	0	0.003080	0	0
RFX4	5992	broad.mit.edu	37	12	107002601	107002601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:107002601G>A	uc001tlt.3	+	1	237	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.E24K|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Missense_Mutation_p.E33K	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	24					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						ATGTCTCAACGAAAGTGAAAA	0.343000														15			8		0	0	0.004482	0	0
CENPT	80152	broad.mit.edu	37	16	67865213	67865213	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:67865213C>T	uc002eun.4	-	9	1158	c.609G>A	c.(607-609)caG>caA	p.Q203Q	CENPT_uc010vkc.2_5'UTR|CENPT_uc010vkd.1_5'UTR|CENPT_uc010vke.1_Silent_p.Q100Q	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	Homo sapiens centromere protein T (CENPT), mRNA.	203					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AGCCAGGCCTCTGCACTGACT	0.597000														22			7		0	0	0.004482	0	0
ZNF295	49854	broad.mit.edu	37	21	43411387	43411387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:43411387G>A	uc021wjo.1	-	0	2818	c.2818C>T	c.(2818-2820)Cac>Tac	p.H940Y	ZNF295_uc002yzz.4_Missense_Mutation_p.H739Y|ZNF295_uc002zab.4_Missense_Mutation_p.H940Y|ZNF295_uc002yzy.4_Missense_Mutation_p.H940Y|ZNF295_uc002zaa.4_Missense_Mutation_p.H940Y	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	940					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						TTGCACACGTGACAAATAAAT	0.498000														32			10		0	0	0.000673	0	0
DKC1	1736	broad.mit.edu	37	X	153995642	153995642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:153995642C>T	uc004fmm.3	+	6	835	c.625C>T	c.(625-627)Cct>Tct	p.P209S	DKC1_uc010nvf.3_Missense_Mutation_p.P209S|SNORA36A_uc004fmn.3_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	209					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	RNA binding|protein binding|pseudouridine synthase activity|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	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)					TGAATACGATCCTGAAAGAAG	0.443000									Congenital Dyskeratosis					13			36		0	0	0.006999	0	0
NLRP7	199713	broad.mit.edu	37	19	55441917	55441917	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:55441917C>T	uc002qih.4	-	8	2836	c.2760G>A	c.(2758-2760)tgG>tgA	p.W920*	NLRP7_uc010esk.3_Nonsense_Mutation_p.W920*|NLRP7_uc002qig.4_Nonsense_Mutation_p.W892*|NLRP7_uc002qii.4_Nonsense_Mutation_p.W920*|NLRP7_uc010esl.3_Nonsense_Mutation_p.W948*	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	920							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GACAGAGAATCCACAATCCAC	0.438000														56			27		0	0	0.007291	0	0
FAM47B	170062	broad.mit.edu	37	X	34961360	34961360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:34961360G>A	uc004ddi.2	+	0	448	c.412G>A	c.(412-414)Gga>Aga	p.G138R		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	138										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCCCAATCTGGGAAAAGATAT	0.572000														6			22		0	0	0.003954	0	0
HRNR	388697	broad.mit.edu	37	1	152193255	152193255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:152193255C>T	uc001ezt.1	-	2	926	c.850G>A	c.(850-852)Ggt>Agt	p.G284S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	284					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGCTGACCATAGCTGGAA	0.592000														105			44		0	0	0.003610	0	0
ANKRD27	84079	broad.mit.edu	37	19	33130265	33130265	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:33130265G>A	uc002ntn.1	-	11	1269	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	ANKRD27_uc002nto.1_Silent_p.P371P	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	371	VPS9.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ATCTTACAGGGGGTTTAGCAG	0.507000														32			13		0	0	0.002450	0	0
PCDH10	57575	broad.mit.edu	37	4	134073473	134073473	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:134073473C>T	uc003iha.3	+	0	3004	c.2178C>T	c.(2176-2178)tcC>tcT	p.S726S	PCDH10_uc003igz.3_Silent_p.S726S	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	726					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCTCGGTGTCCTTCATCTTCC	0.597000														32			12		0	0	0.002450	0	0
MS4A4E	643680	broad.mit.edu	37	11	59997464	59997465	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:59997464_59997465CC>TT	uc001noy.2	-	0	80_81	c.64_65GG>AA	c.(64-66)gga>AAa	p.G22K	MS4A4E_uc001nov.2_Non-coding_Transcript|MS4A4E_uc001now.2_Non-coding_Transcript|MS4A4E_uc001nox.2_Missense_Mutation_p.G22K|MS4A4E_uc009ymw.2_Missense_Mutation_p.G22K					RecName: Full=Putative membrane-spanning 4-domains subfamily A member 4E;											ovary(1)	1						ATCTATGTTTCCCAGCTGGGGC	0.446000														21			7		0	0	0.004672	0	0
MARK4	57787	broad.mit.edu	37	19	45774924	45774924	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:45774924C>T	uc002pbb.2	+	7	1075	c.744C>T	c.(742-744)acC>acT	p.T248T	MARK4_uc002paz.2_Missense_Mutation_p.P59L|MARK4_uc002pba.2_Silent_p.T248T|MARK4_uc002pbc.1_Silent_p.T114T	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	248	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCTGTACACCCTCGTCAGCG	0.662000														34			13		0	0	0.002450	0	0
CCNB3	85417	broad.mit.edu	37	X	50051652	50051652	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:50051652G>A	uc004dox.4	+	5	781	c.483G>A	c.(481-483)aaG>aaA	p.K161K	CCNB3_uc004doy.3_Silent_p.K161K|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	161					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TAGTTTTAAAGGAGGAACCCA	0.403000														5			23		0	0	0.003954	0	0
OR8J3	81168	broad.mit.edu	37	11	55904565	55904565	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:55904565G>A	uc010riz.2	-	0	630	c.630C>T	c.(628-630)tcC>tcT	p.S210S		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CTGTAATCATGGAAAAAACCA	0.358000														49			22		0	0	0.001882	0	0
ZNF80	7634	broad.mit.edu	37	3	113955368	113955368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:113955368C>T	uc010hqo.3	-	0	1058	c.554G>A	c.(553-555)gGa>gAa	p.G185E	ZNF80_uc003ebf.3_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	Homo sapiens zinc finger protein 80 (ZNF80), mRNA.	185						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GGGCTTCTCTCCAGTGTGAAT	0.493000														64			29		0	0	0.002836	0	0
ENTPD5	957	broad.mit.edu	37	14	74433631	74433632	+	Silent	DNP	TC	CT	CT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:74433631_74433632TC>CT	uc010tuo.2	-	15	1597_1598	c.1286_1287GA>AG	c.(1285-1287)tga>tAG	p.*429*	ENTPD5_uc001xpi.3_Intron	NM_001249	NP_001240	O75356	ENTP5_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 5 (ENTPD5), mRNA.	0					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GTACGTGGCCTCAATGGGAGAT	0.505000														24			19		0	0	0.004672	0	0
FGF20	26281	broad.mit.edu	37	8	16850656	16850656	+	Silent	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:16850656A>G	uc003wxc.1	-	2	694	c.561T>C	c.(559-561)ttT>ttC	p.F187F	FGF20_uc010lsw.1_3'UTR	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	Homo sapiens fibroblast growth factor 20 (FGF20), mRNA.	187					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AGAAATGTGTAAATTTCTGAT	0.433000														14			19		0	0	0.006122	0	0
LRRN2	10446	broad.mit.edu	37	1	204587896	204587896	+	Missense_Mutation	SNP	G	A	A	rs141763834		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:204587896G>A	uc021phy.1	-	0	1225	c.1225C>T	c.(1225-1227)Cgt>Tgt	p.R409C	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.R409C|LRRN2_uc001hbf.1_Missense_Mutation_p.R409C|LRRN2_uc009xbf.1_Missense_Mutation_p.R409C|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	409	LRRCT.				cell adhesion	integral to membrane	receptor activity	p.R409C(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGCACCTCACGGACCGGGAGG	0.657000														24			13		0	0	0.001855	0	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:29628283G>C	uc010ztl.1	+	2	227	c.195G>C	c.(193-195)ggG>ggC	p.G65G	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Silent_p.G17G					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.G95G(4)|p.I64T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000														34			5		0	0	0.001168	0	0
ABP1	26	broad.mit.edu	37	7	150554030	150554030	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:150554030G>C	uc003why.1	+	2	4690	c.472G>C	c.(472-474)Gcc>Ccc	p.A158P	ABP1_uc003whz.1_Missense_Mutation_p.A158P|ABP1_uc003wia.1_Missense_Mutation_p.A158P	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	158					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)	CCTGCAGGAAGCCACCAAGCC	0.612000														28			16		0	0	0.004007	0	0
ZNF335	63925	broad.mit.edu	37	20	44594306	44594306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:44594306G>A	uc002xqw.3	-	6	1186	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	ZNF335_uc010zxk.2_Missense_Mutation_p.R200W|ZNF335_uc002xqx.1_Missense_Mutation_p.R323W	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGCAGCTTCCGGGGCCGGCCA	0.677000														23			19		0	0	0.007413	0	0
SLC5A2	6524	broad.mit.edu	37	16	31497553	31497553	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:31497553C>T	uc002ecf.4	+	4	550	c.531C>T	c.(529-531)tcC>tcT	p.S177S	SLC5A2_uc010car.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	177					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TCTATGCCTCCGTCATCGCGC	0.602000														25			20		0	0	0.002299	0	0
CHRNB4	1143	broad.mit.edu	37	15	78923470	78923471	+	Silent	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:78923470_78923471GG>AA	uc002bed.1	-	3	418_419	c.306_307CC>TT	c.(304-309)atcctg>atTTtg	p.102_103IL>IL	CHRNB4_uc002bee.1_Silent_p.102_103IL>IL|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	102					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						GGGATCCTCAGGATGTTCACAC	0.589000														38			13		0	0	0.004672	0	0
MAP3K4	4216	broad.mit.edu	37	6	161518132	161518132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:161518132C>T	uc003qtn.3	+	15	3590	c.3448C>T	c.(3448-3450)Cgt>Tgt	p.R1150C	MAP3K4_uc010kkc.1_Missense_Mutation_p.R1146C|MAP3K4_uc003qto.3_Missense_Mutation_p.R1150C|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.R603C|MAP3K4_uc003qtp.3_Missense_Mutation_p.R136C	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1150					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.R1150C(3)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAACAGCCCCCGTCCTATGAA	0.448000														13			18		0	0	0.007413	0	0
PDHA2	5161	broad.mit.edu	37	4	96762042	96762042	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:96762042C>T	uc003htr.4	+	0	804	c.741C>T	c.(739-741)atC>atT	p.I247I		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	247					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GCAATTTTATCCCTGGGCTAA	0.453000														34			25		0	0	0.003330	0	0
LOC646214	646214	broad.mit.edu	37	15	21937946	21937946	+	RNA	SNP	C	T	T	rs142424875	by1000genomes	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:21937946C>T	uc010tzj.1	-	0		c.2794G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CTTCCTTTCTCTGTGCCTGAG	0.423000														320			52		0	0	0.003610	0	0
SCARF2	91179	broad.mit.edu	37	22	20780370	20780370	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:20780370G>A	uc002zsj.2	-	10	2013	c.1908C>T	c.(1906-1908)gcC>gcT	p.A636A	SCARF2_uc002zsk.2_Silent_p.A631A	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA.	631				ARVARREARPARA -> PTTTWITHSTAAS (in Ref. 2; AAH00584).	cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			gggccggccgggccTCGCGTC	0.766000														7			5		0	0	0.000602	0	0
DNAJA4	55466	broad.mit.edu	37	15	78567844	78567844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:78567844G>A	uc002bdi.3	+	5	907	c.738G>A	c.(736-738)atG>atA	p.M246I	DNAJA4_uc002bdj.2_Missense_Mutation_p.M217I|DNAJA4_uc002bdk.3_Missense_Mutation_p.M190I|DNAJA4_uc002bdm.2_Missense_Mutation_p.M1I	NM_018602	NP_001123654	Q8WW22	DNJA4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 4 (DNAJA4), transcript variant 1, mRNA.	217					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						TCATAGGTATGAAAGATGGGC	0.413000														20			16		0	0	0.004990	0	0
KCNG4	93107	broad.mit.edu	37	16	84270723	84270723	+	Silent	SNP	G	A	A	rs144555438		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:84270723G>A	uc010voc.2	-	1	490	c.369C>T	c.(367-369)atC>atT	p.I123I	KCNG4_uc002fhu.1_Silent_p.I123I	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	123						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGAAGCTCACGATCACCCCGA	0.632000														28			8		0	0	0.006214	0	0
KDM8	79831	broad.mit.edu	37	16	27231785	27231785	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:27231785C>T	uc010vcn.1	+	6	1297	c.1179C>T	c.(1177-1179)caC>caT	p.H393H	KDM8_uc002doh.2_Silent_p.H355H|KDM8_uc010bxw.2_Intron|KDM8_uc010bxx.2_Non-coding_Transcript	NM_001145348	NP_079049	Q8N371	KDM8_HUMAN	Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA.	355	JmjC.				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										ATGACACGCACCTTCTCCATA	0.592000														63			34		0	0	0.004289	0	0
AFP	174	broad.mit.edu	37	4	74310740	74310740	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:74310740C>T	uc003hgz.1	+	6	791	c.744C>T	c.(742-744)acC>acT	p.T248T	AFP_uc011cbg.1_Silent_p.T22T	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	248	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAAGTTTACCAAAGTTAATT	0.358000									Alpha-Fetoprotein, Hereditary Persistence of					14			11		0	0	0.000978	0	0
GPR115	221393	broad.mit.edu	37	6	47682264	47682264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:47682264C>T	uc003oyz.1	+	6	1454	c.1454C>T	c.(1453-1455)tCc>tTc	p.S485F	GPR115_uc003oza.1_Missense_Mutation_p.S428F|GPR115_uc003ozb.1_Missense_Mutation_p.S428F|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	428					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L485L(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ACAGTGTGGTCCCGGGTGGTT	0.493000														28			34		0	0	0.003755	0	0
GPR149	344758	broad.mit.edu	37	3	154056017	154056017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:154056017C>T	uc003faa.3	-	3	1767	c.1667G>A	c.(1666-1668)gGg>gAg	p.G556E		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	556						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q555K(1)		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)			AGACACAGTCCCCTGGAATGC	0.448000														61			34		0	0	0.002836	0	0
FCGBP	8857	broad.mit.edu	37	19	40424301	40424301	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:40424301C>T	uc002omp.4	-	3	1910	c.1902G>A	c.(1900-1902)gtG>gtA	p.V634V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	634	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGCGAACTCCACAGCGTCAG	0.607000														80			48		0	0	0.003610	0	0
PIK3R1	5295	broad.mit.edu	37	5	67589197	67589197	+	Silent	SNP	A	T	T	rs149905863		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:67589197A>T	uc003jva.3	+	9	1765	c.1185A>T	c.(1183-1185)ccA>ccT	p.P395P	PIK3R1_uc003jvc.3_Silent_p.P95P|PIK3R1_uc003jvd.3_Silent_p.P125P|PIK3R1_uc003jve.3_Silent_p.P74P|PIK3R1_uc021xzn.1_Silent_p.P32P|PIK3R1_uc011crb.2_Silent_p.P65P	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	395	SH2 1.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TCTCTGACCCATTAACCTTCA	0.318000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				8			10		0	0	0.000673	0	0
FAM71D	161142	broad.mit.edu	37	14	67664893	67664893	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:67664893C>T	uc001xja.2	+	2	305	c.15C>T	c.(13-15)acC>acT	p.T5T	FAM71D_uc010tsv.2_Non-coding_Transcript|FAM71D_uc001xiz.3_Non-coding_Transcript|FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	5										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		AGAAGAACACCAGCAAGACTA	0.393000														20			15		0	0	0.004007	0	0
TPCN2	219931	broad.mit.edu	37	11	68854621	68854621	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:68854621C>T	uc001oos.2	+	23	2243	c.2127C>T	c.(2125-2127)ccC>ccT	p.P709P	TPCN2_uc010rqg.1_Silent_p.P527P|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	709					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACCTGCAGCCCCTTGCTGGGA	0.637000														22			5		0	0	0.001168	0	0
SCN4A	6329	broad.mit.edu	37	17	62026854	62026854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:62026854G>A	uc002jds.1	-	14	2965	c.2888C>T	c.(2887-2889)tCc>tTc	p.S963F		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	963					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCTGCAGACGGACGAGTTCCC	0.627000														26			9		0	0	0.004482	0	0
SLC4A5	57835	broad.mit.edu	37	2	74479337	74479337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:74479337C>T	uc002sko.1	-	10	1449	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.E483K|SLC4A5_uc010ffc.1_Missense_Mutation_p.E483K|SLC4A5_uc002skp.1_Missense_Mutation_p.E419K|SLC4A5_uc002sks.1_Missense_Mutation_p.E483K	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	483	Gly-rich.					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCCCCGATTTCATGCATGGCT	0.632000														15			31		0	0	0.002836	0	0
OGT	8473	broad.mit.edu	37	X	70781708	70781708	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:70781708C>T	uc004eaa.2	+	14	2173	c.1935C>T	c.(1933-1935)ggC>ggT	p.G645G	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Silent_p.G635G|OGT_uc004eac.3_Silent_p.G506G|OGT_uc004ead.3_Silent_p.G264G	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.	645					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)					ATACTAAGGGCGCTCGAAATG	0.383000														7			15		0	0	0.004990	0	0
WRN	7486	broad.mit.edu	37	8	30938511	30938511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:30938511C>T	uc003xio.4	+	8	1756	c.968C>T	c.(967-969)tCa>tTa	p.S323L	WRN_uc011lbd.1_Missense_Mutation_p.S26L|WRN_uc011lbe.1_5'Flank	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	323					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTGAAGATTCAACTACTGGG	0.353000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					8			14		0	0	0.002450	0	0
HDDC2	51020	broad.mit.edu	37	6	125614016	125614016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:125614016G>A	uc003qaa.1	-	3	553	c.349C>T	c.(349-351)Ctc>Ttc	p.L117F	HDDC2_uc003qab.1_Non-coding_Transcript	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	Homo sapiens HD domain containing 2 (HDDC2), mRNA.	117	HD.						metal ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		TCCTTTCTGAGGTCCTCTGGT	0.348000														27			39		0	0	0.002522	0	0
IGF1	3479	broad.mit.edu	37	12	102811752	102811752	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:102811752C>T	uc001tjp.4	-	3	651	c.432G>A	c.(430-432)acG>acA	p.T144T	IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Silent_p.T144T|IGF1_uc001tjo.2_Intron	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	144					DNA replication|Ras protein signal transduction|anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of activated T cell proliferation|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						TCTGAGACTTCGTGTTCTTGT	0.463000														82			47		0	0	0.002522	0	0
CLPTM1	1209	broad.mit.edu	37	19	45494515	45494515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:45494515C>T	uc002pai.3	+	11	1493	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	CLPTM1_uc010xxf.2_Missense_Mutation_p.S378F|CLPTM1_uc010xxg.2_Missense_Mutation_p.S466F|CLPTM1_uc021uvo.1_5'Flank	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	480					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CGGTACCTGTCCTGGATCCTC	0.647000														112			77		0	0	0.003610	0	0
MRPS31	10240	broad.mit.edu	37	13	41323282	41323282	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:41323282T>A	uc001uxm.4	-	5	1025	c.950A>T	c.(949-951)aAt>aTt	p.N317I		NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.	317						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		ACCTGCTTCATTGTTAATTGG	0.358000														48			30		0	0	0.002445	0	0
FAM135B	51059	broad.mit.edu	37	8	139144922	139144922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:139144922C>T	uc003yuy.3	-	19	4306	c.4135G>A	c.(4135-4137)Ggc>Agc	p.G1379S	FAM135B_uc003yux.3_Missense_Mutation_p.G1280S|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1379										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)			GCGGCTCGGCCGATCAGGGTG	0.542000										HNSCC(54;0.14)				191			61		0	0	0.003610	0	0
PPM1A	5494	broad.mit.edu	37	14	60750007	60750007	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:60750007G>T	uc001xew.4	+	1	901	c.805G>T	c.(805-807)Gcc>Tcc	p.A269S	PPM1A_uc010apn.3_Missense_Mutation_p.A196S|PPM1A_uc001xex.4_Missense_Mutation_p.A196S|PPM1A_uc001xey.4_Missense_Mutation_p.A196S	NM_177952	NP_808821	P35813	PPM1A_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA.	196					Wnt receptor signaling pathway|cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein dephosphorylation	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		TGTATCGAGGGCCCTTGGGGA	0.458000														46			31		5.45727e-16	6.8609e-16	0.001512	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140754002	140754002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140754002C>T	uc003ljy.2	+	0	352	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S	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_uc011dau.2_Missense_Mutation_p.P118S	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	118	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)			GAATCTTTATCCCGTGGAAGT	0.483000														17			22		0	0	0.002299	0	0
PRMT1	3276	broad.mit.edu	37	19	50189873	50189873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:50189873C>T	uc010enf.2	+	9	1051	c.922C>T	c.(922-924)Ccg>Tcg	p.P308S	PRMT1_uc021uxu.1_Missense_Mutation_p.P284S|PRMT1_uc002ppe.3_Missense_Mutation_p.P290S|PRMT1_uc021uxv.1_Missense_Mutation_p.P222S|PRMT1_uc010ybb.2_5'Flank|C19orf76_uc002pph.2_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	Homo sapiens protein arginine methyltransferase 1 (PRMT1), transcript variant 1, mRNA.	289						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CCCCGAGTCCCCGTACACGCA	0.687000														16			4		0	0	0.001168	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518910	113518910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:113518910G>A	uc010ljy.1	-	3	2268	c.2237C>T	c.(2236-2238)gCt>gTt	p.A746V		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	746					glycogen metabolic process	integral to membrane		p.S745Y(1)|p.A746A(1)		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						TTTTTCTCTAGCAGACATGCT	0.433000														48			17		0	0	0.004007	0	0
F5	2153	broad.mit.edu	37	1	169555578	169555578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:169555578G>A	uc001ggg.1	-	0	192	c.47C>T	c.(46-48)aCc>aTc	p.T16I	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	16					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)	TACCCAGCTGGTGCCCAAGAC	0.652000														21			9		0	0	0.000978	0	0
OR4N2	390429	broad.mit.edu	37	14	20295941	20295941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:20295941G>A	uc010tkv.2	+	0	334	c.334G>A	c.(334-336)Gga>Aga	p.G112R		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGGAGGGGAGGGATTACTCCT	0.512000														61			40		0	0	0.006999	0	0
STAT1	6772	broad.mit.edu	37	2	191851617	191851617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:191851617G>A	uc010fse.2	-	12	1616	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	STAT1_uc021vue.1_Missense_Mutation_p.S207F|STAT1_uc002usj.2_Missense_Mutation_p.S395F|STAT1_uc002usk.2_Missense_Mutation_p.S395F|STAT1_uc002usl.2_Missense_Mutation_p.S397F|STAT1_uc010fsf.1_Missense_Mutation_p.S207F	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	395					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GCCATTGGTGGACTCCTCCAT	0.423000														100			60		0	0	0.003610	0	0
TBXAS1	6916	broad.mit.edu	37	7	139529266	139529266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:139529266C>T	uc011kqv.2	+	0	315	c.80C>T	c.(79-81)gCc>gTc	p.A27V	TBXAS1_uc003vvh.3_Missense_Mutation_p.A27V|TBXAS1_uc010lne.3_Intron|TBXAS1_uc011kqu.2_Missense_Mutation_p.A27V|TBXAS1_uc003vvi.3_Missense_Mutation_p.A27V|TBXAS1_uc011kqw.2_5'UTR|TBXAS1_uc003vvj.3_Missense_Mutation_p.A27V|TBXAS1_uc011kqx.1_Missense_Mutation_p.A27V	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	26					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GCTCTCTTGGCCCTCCTGAAA	0.587000														15			7		0	0	0.003080	0	0
BDP1	55814	broad.mit.edu	37	5	70828250	70828250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:70828250C>T	uc003kbp.1	+	25	6151	c.5888C>T	c.(5887-5889)cCg>cTg	p.P1963L	BDP1_uc003kbo.3_Missense_Mutation_p.P1963L|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.	1963					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)		TTGAGTGTACCGTTTGTAAGC	0.343000														13			8		0	0	0.004482	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378576	31378576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:31378576C>T	uc003tch.3	-	1	660	c.307G>A	c.(307-309)Gag>Aag	p.E103K	NEUROD6_uc022abi.1_Missense_Mutation_p.E103K	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	103					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CTGTTCCTCTCGCGCGCGTTC	0.473000														108			42		0	0	0.003610	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178396	140178396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:140178396C>T	uc003etn.3	+	6	1197	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	CLSTN2_uc003etm.2_Missense_Mutation_p.S336F	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	336					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTCTTGCCATCCCCTAGCGCT	0.557000										HNSCC(16;0.037)				43			20		0	0	0.004656	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18765931	18765931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:18765931C>T	uc010exr.3	-	3	690	c.578G>A	c.(577-579)gGg>gAg	p.G193E	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.G251E|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.G191E|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.G251E|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.G234E|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.G268E|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.G253E|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.G191E|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.G43E	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	251	Pro-rich.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										GGGGTAGATCCCCCTGCGCTG	0.667000														15			4		0	0	0.001168	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870879	51870879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:51870879G>A	uc002xwo.3	+	1	1769	c.882G>A	c.(880-882)atG>atA	p.M294I	TSHZ2_uc021wex.1_Missense_Mutation_p.M291I	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	294					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			GCGTCCACATGATTAAAACAA	0.438000														33			15		0	0	0.002450	0	0
TRPM4	54795	broad.mit.edu	37	19	49703939	49703939	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:49703939G>A	uc002pmw.3	+	18	2958	c.2850G>A	c.(2848-2850)ggG>ggA	p.G950G	TRPM4_uc010emu.3_Silent_p.G805G|TRPM4_uc010yak.2_Silent_p.G414G|TRPM4_uc002pmx.3_Silent_p.G776G|TRPM4_uc010emv.3_Silent_p.G835G|TRPM4_uc010yal.2_Silent_p.G596G|TRPM4_uc002pmy.3_Silent_p.G292G	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	950					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)		CCACGGAGGGGCTCCTGAGGC	0.612000														28			10		0	0	0.006214	0	0
HOXB2	3212	broad.mit.edu	37	17	46620505	46620505	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:46620505G>A	uc002inm.3	-	1	1116	c.996C>T	c.(994-996)agC>agT	p.S332S		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	332					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						AAGGGACCGGGCTGTCGAGAG	0.567000														83			36		0	0	0.006230	0	0
HERC2	8924	broad.mit.edu	37	15	28538093	28538093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:28538093G>A	uc001zbj.3	-	3	369	c.263C>T	c.(262-264)cCt>cTt	p.P88L	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	88					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TATAGGTGCAGGAGTTTCTTC	0.383000														31			14		0	0	0.002450	0	0
RYR2	6262	broad.mit.edu	37	1	237777781	237777781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:237777781G>A	uc001hyl.1	+	36	5473	c.5353G>A	c.(5353-5355)Gac>Aac	p.D1785N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1785	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTCCCACTGGACATCCTCAA	0.507000														54			33		0	0	0.002445	0	0
NSD1	64324	broad.mit.edu	37	5	176562207	176562207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:176562207G>A	uc003mfr.4	+	1	241	c.103G>A	c.(103-105)Ggt>Agt	p.G35S	NSD1_uc003mft.4_Intron|NSD1_uc003mfs.1_Missense_Mutation_p.G35S|NSD1_uc011dfx.2_Intron|NSD1_uc003mfp.2_Missense_Mutation_p.G35S|NSD1_uc003mfq.3_Missense_Mutation_p.G35S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	35					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTCGGTAATGGTCAATCCAA	0.443000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				24			32		0	0	0.002836	0	0
KLHL5	51088	broad.mit.edu	37	4	39083653	39083653	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:39083653G>A	uc003gtr.2	+	3	1195	c.912G>A	c.(910-912)caG>caA	p.Q304Q	KLHL5_uc003gtp.3_Silent_p.Q258Q|KLHL5_uc003gtq.3_Silent_p.Q117Q|KLHL5_uc003gts.3_Silent_p.Q304Q|KLHL5_uc003gtt.3_Silent_p.Q243Q	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	304						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGCTTTCACAGGTTGTAGAAG	0.383000														44			24		0	0	0.002299	0	0
MMP11	4320	broad.mit.edu	37	22	24123412	24123412	+	Silent	SNP	C	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:24123412C>A	uc002zxx.3	+	5	913	c.891C>A	c.(889-891)tcC>tcA	p.S297S	MMP11_uc002zxy.3_Non-coding_Transcript	NM_005940	NP_005931	P24347	MMP11_HUMAN	Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.	297					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				GTGAGGCCTCCTTTGACGCGG	0.637000														48			37		4.01765e-15	5.04375e-15	0.002222	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43919774	43919774	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:43919774A>C	uc010yny.2	+	3	391	c.308A>C	c.(307-309)cAa>cCa	p.Q103P	PLEKHH2_uc002rte.3_Missense_Mutation_p.Q103P|PLEKHH2_uc002rtf.3_Missense_Mutation_p.Q103P	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	103						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GACGTCATTCAAAACTTGGAA	0.338000														146			74		0	0	0.003610	0	0
SBNO2	22904	broad.mit.edu	37	19	1127741	1127741	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:1127741G>A	uc002lrk.4	-	4	541	c.303C>T	c.(301-303)ttC>ttT	p.F101F	SBNO2_uc002lrj.4_Silent_p.F44F|SBNO2_uc010dse.3_Silent_p.F94F|SBNO2_uc010dsf.3_Silent_p.F44F	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	101					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGTTGGAGAAGTCCTCAA	0.617000														6			13		0	0	0.002450	0	0
FAM160B2	64760	broad.mit.edu	37	8	21957256	21957256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:21957256C>T	uc011kyx.2	+	9	1244	c.1193C>T	c.(1192-1194)gCc>gTc	p.A398V	FAM160B2_uc011kyy.2_Non-coding_Transcript	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA.	398										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CTCCTCACAGCCATGCTGCGC	0.682000														8			5		0	0	0.000602	0	0
NAV3	89795	broad.mit.edu	37	12	78360052	78360052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:78360052G>A	uc001syp.3	+	3	631	c.458G>A	c.(457-459)gGg>gAg	p.G153E	NAV3_uc001syo.3_Missense_Mutation_p.G153E	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	153	CH.					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						GCAGCCAGAGGGGTAAATGTT	0.313000										HNSCC(70;0.22)				43			20		0	0	0.002780	0	0
PLA2R1	22925	broad.mit.edu	37	2	160869867	160869867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:160869867C>T	uc002ube.2	-	9	1783	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E	PLA2R1_uc010zcp.2_Missense_Mutation_p.G524E|PLA2R1_uc002ubf.3_Missense_Mutation_p.G524E	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	524	C-type lectin 3.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTAACAGAATCCACCATGTCT	0.368000														17			10		0	0	0.000978	0	0
URM1	81605	broad.mit.edu	37	9	131151621	131151621	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:131151621C>T	uc011may.1	+	3	332	c.270C>T	c.(268-270)gcC>gcT	p.A90A	URM1_uc004buv.2_Intron	NM_001135947	NP_001129419	Q9BTM9	URM1_HUMAN	Homo sapiens ubiquitin related modifier 1 (URM1), transcript variant 2, mRNA.	0					tRNA thio-modification|tRNA wobble uridine modification		protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						CTCCCCCAGCCCCTGCCCTTG	0.607000														34			13		0	0	0.002450	0	0
LRP5	4041	broad.mit.edu	37	11	68216526	68216527	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:68216526_68216527GG>AA	uc001ont.3	+	22	4911_4912	c.4836_4837GG>AA	c.(4834-4839)acggac>acAAac	p.D1613N	LRP5_uc009ysg.3_Missense_Mutation_p.D1023N	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1613					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCCCTGCACGGACTCATCCTG	0.540000														32			11		0	0	0.004672	0	0
LPHN3	23284	broad.mit.edu	37	4	62935858	62935858	+	Silent	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:62935858T>C	uc010ihh.3	+	22	3815	c.3642T>C	c.(3640-3642)agT>agC	p.S1214S	LPHN3_uc003hcq.4_Missense_Mutation_p.C1232R|LPHN3_uc003hct.3_Silent_p.S598S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	1192					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GGGATACAAGTGTCATGGATA	0.433000														35			26		0	0	0.002096	0	0
OR5T2	219464	broad.mit.edu	37	11	55999754	55999754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:55999754G>A	uc010rjc.2	-	0	908	c.908C>T	c.(907-909)tCc>tTc	p.S303F		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S302G(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AGCATAGCTGGAACTTGGTCT	0.428000														52			23		0	0	0.002780	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917539	144917539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:144917539C>T	uc021ouh.1	-	11	1867	c.1565G>A	c.(1564-1566)aGa>aAa	p.R522K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.R522K|PDE4DIP_uc001elx.4_Missense_Mutation_p.R588K|PDE4DIP_uc001emd.2_Missense_Mutation_p.R522K|PDE4DIP_uc001emc.2_Missense_Mutation_p.R522K|PDE4DIP_uc001emb.1_Missense_Mutation_p.R685K|PDE4DIP_uc001eme.1_Missense_Mutation_p.R51K	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	522					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATCGCGCAGTCTCTCTAAGTC	0.468000			T	PDGFRB	MPD									500			73		0	0	0.003610	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74834741	74834741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:74834741C>T	uc001dge.2	+	15	1727	c.1660C>T	c.(1660-1662)Cct>Tct	p.P554S	FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.P554S|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.P554S|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.P453S	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	453	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										AGCTGGATTGCCTTCACATTT	0.353000														23			7		0	0	0.003080	0	0
ZFPM1	161882	broad.mit.edu	37	16	88599317	88599317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:88599317G>A	uc002fkv.3	+	8	1196	c.1163G>A	c.(1162-1164)gGa>gAa	p.G388E		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	Homo sapiens zinc finger protein, multitype 1 (ZFPM1), mRNA.	388					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCAGGGGCCGGACACCCAGCA	0.647000														24			11		0	0	0.001368	0	0
ZNF79	7633	broad.mit.edu	37	9	130206352	130206352	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:130206352G>A	uc004bqw.4	+	4	787	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	ZNF79_uc011maf.2_Missense_Mutation_p.E101K|ZNF79_uc011mag.2_Missense_Mutation_p.E101K	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S124S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						AGCCCTTTCTGAAGCTTCATT	0.483000														44			26		0	0	0.007291	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683204	71683204	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:71683204C>T	uc002fax.3	-	17	3567	c.3561G>A	c.(3559-3561)gaG>gaA	p.E1187E	PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Silent_p.E1120E|PHLPP2_uc021tkv.1_5'Flank	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	1187						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TAGGAGAACTCTCTATGAGAG	0.532000														35			20		0	0	0.001523	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370428	38370428	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:38370428C>T	uc003jlc.2	+	5	922	c.576C>T	c.(574-576)atC>atT	p.I192I	EGFLAM_uc003jlb.2_Silent_p.I192I	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	192	Fibronectin type-III 2.					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)					GGACCTCAATCCATGAGCGGA	0.488000														8			21		0	0	0.003330	0	0
PADI3	51702	broad.mit.edu	37	1	17597630	17597630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:17597630C>T	uc001bai.3	+	8	1044	c.1004C>T	c.(1003-1005)aCc>aTc	p.T335I		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	335					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGCAAGCTGACCATCTGCCCA	0.632000														13			15		0	0	0.004990	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48602351	48602351	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:48602351C>T	uc010wmr.2	+	12	2040	c.1878C>T	c.(1876-1878)acC>acT	p.T626T	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	589					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCTATCTCACCGAGGAAGACT	0.647000														62			20		0	0	0.001523	0	0
PKD1L1	168507	broad.mit.edu	37	7	47969013	47969013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:47969013G>A	uc003tny.2	-	6	882	c.848C>T	c.(847-849)gCt>gTt	p.A283V		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	283					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						AGAATTTCGAGCTAGGATGGC	0.532000														43			22		0	0	0.002780	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375371	113375371	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:113375371G>C	uc003eam.3	-	6	5569	c.5158C>G	c.(5158-5160)Cgt>Ggt	p.R1720G	KIAA2018_uc003eal.3_Missense_Mutation_p.R1664G	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1720					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGGTCCACACGACCCTGCATA	0.423000														35			19		0	0	0.007413	0	0
IL20	50604	broad.mit.edu	37	1	207039849	207039849	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:207039849C>T	uc001her.3	+	2	290	c.246C>T	c.(244-246)ctC>ctT	p.L82L	IL20_uc009xby.3_Silent_p.L82L	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN	Homo sapiens interleukin 20 (IL20), mRNA.	82					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding	p.L82L(2)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		GATGCTGCCTCCTGCGCCATT	0.512000														250			128		0	0	0.003610	0	0
ATP1A3	478	broad.mit.edu	37	19	42482796	42482796	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:42482796G>A	uc002osh.3	-	11	1746	c.1592C>T	c.(1591-1593)gCc>gTc	p.A531V	ATP1A3_uc010xwf.2_Missense_Mutation_p.A542V|ATP1A3_uc010xwg.2_Missense_Mutation_p.A501V|ATP1A3_uc002osg.3_Missense_Mutation_p.A531V|ATP1A3_uc010xwh.2_Missense_Mutation_p.A544V			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	531					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CTCAAGGTAGGCATTCTGGAA	0.667000														39			24		0	0	0.003330	0	0
IGSF1	3547	broad.mit.edu	37	X	130415851	130415851	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:130415851G>A	uc004ewe.4	-	7	1597	c.1314C>T	c.(1312-1314)acC>acT	p.T438T	IGSF1_uc004ewd.3_Silent_p.T438T|IGSF1_uc022cdv.1_Silent_p.T429T|IGSF1_uc004ewf.2_Silent_p.T418T	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	438	Ig-like C2-type 5.				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						GGCACTGAAGGGTGATGGCCT	0.468000														3			7		0	0	0.001984	0	0
ZNF331	55422	broad.mit.edu	37	19	54080487	54080487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:54080487C>T	uc002qbx.1	+	6	2107	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	ZNF331_uc002qby.1_Missense_Mutation_p.R225W|ZNF331_uc002qbz.1_Missense_Mutation_p.R225W|ZNF331_uc010eqr.1_Missense_Mutation_p.R225W|ZNF331_uc002qca.1_Missense_Mutation_p.R225W|ZNF331_uc021uzg.1_Missense_Mutation_p.R225W|ZNF331_uc021uzh.1_Missense_Mutation_p.R225W|ZNF331_uc002qcb.1_Missense_Mutation_p.R225W|ZNF331_uc002qcc.1_Missense_Mutation_p.R225W|ZNF331_uc002qcd.1_Missense_Mutation_p.R225W	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AAAGGCCTTTCGGCGTGGTGA	0.473000			T	?	follicular thyroid adenoma									37			20		0	0	0.001523	0	0
LILRA1	11024	broad.mit.edu	37	19	55107160	55107160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:55107160G>A	uc002qgh.1	+	5	900	c.718G>A	c.(718-720)Gag>Aag	p.E240K	LILRA1_uc010yfg.1_Missense_Mutation_p.E238K|LILRA1_uc010yfh.2_Missense_Mutation_p.E240K	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	240	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.G239E(1)|p.G239W(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)		GGCCCCTGGGGAGAGCCTGAC	0.557000														60			23		0	0	0.004656	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	25404	25404	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrGL000209.1:25404T>G	uc002qts.2	+	2	150	c.121T>G	c.(121-123)Tca>Gca	p.S41A	KIR2DL2_uc002qtt.2_Missense_Mutation_p.S41A	NM_014219	NP_055034	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 (KIR2DL2), mRNA.	41					regulation of immune response	integral to membrane|plasma membrane	receptor activity										CCTGGTGAAATCAGAAGAGAC	0.488000														25			55		0	0	0.003610	0	0
GET4	51608	broad.mit.edu	37	7	927100	927100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:927100C>T	uc003sjl.1	+	3	502	c.410C>T	c.(409-411)tCc>tTc	p.S137F	GET4_uc003sjj.1_Non-coding_Transcript	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	Homo sapiens golgi to ER traffic protein 4 homolog (S. cerevisiae) (GET4), mRNA.	137					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGTGGGGGCTCCGGGAAGCTG	0.637000														37			12		0	0	0.001368	0	0
MYBPC2	4606	broad.mit.edu	37	19	50944138	50944138	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:50944138G>A	uc002psf.2	+	8	624	c.573_splice	c.e8-1	p.R191_splice		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	191					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACCCGCCAGGGAGGTGGTGGA	0.572000														14			4		0	0	0.001168	0	0
HECW2	57520	broad.mit.edu	37	2	197184260	197184260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:197184260G>A	uc002utm.1	-	8	1537	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S	HECW2_uc002utl.1_Missense_Mutation_p.P96S	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	452					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						GTGTCAGTGGGAAAACTACTC	0.507000														16			5		0	0	0.001984	0	0
ZNF233	353355	broad.mit.edu	37	19	44777201	44777201	+	Silent	SNP	A	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:44777201A>C	uc021uvi.1	+	4	494	c.388A>C	c.(388-390)Agg>Cgg	p.R130R	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_5'UTR|ZNF233_uc002oyz.2_Silent_p.R130R	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TCAAGGCAAGAGGTCCAAGTT	0.378000														26			13		0	0	0.001855	0	0
FNDC1	84624	broad.mit.edu	37	6	159653402	159653402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:159653402C>T	uc010kjv.3	+	10	2058	c.1858C>T	c.(1858-1860)Cct>Tct	p.P620S	FNDC1_uc010kjw.1_Missense_Mutation_p.P505S	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	620						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TTCGGCCTCTCCTGCCCACCA	0.672000														7			9		0	0	0.006214	0	0
PRSS48	345062	broad.mit.edu	37	4	152204438	152204439	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:152204438_152204439GG>AA	uc011cif.2	+	4	651	c.651_splice	c.e4+1	p.K217_splice	PRSS48_uc011cig.2_Splice_Site_p.K74_splice	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	Homo sapiens protease, serine, 48 (PRSS48), mRNA.	217	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						ATAGTTGCAAGGTCAGGGTTTG	0.406000														46			11		0	0	0.004672	0	0
RP1	6101	broad.mit.edu	37	8	55538107	55538107	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:55538107G>A	uc003xsd.1	+	3	1813	c.1665G>A	c.(1663-1665)caG>caA	p.Q555Q	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	555					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTACAAGTCAGAAGATGTTAG	0.343000														49			10		0	0	0.001368	0	0
MEPCE	56257	broad.mit.edu	37	7	100030695	100030696	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:100030695_100030696CC>TT	uc003uuw.3	+	1	2213_2214	c.1825_1826CC>TT	c.(1825-1827)cct>TTt	p.P609F	MEPCE_uc022ain.1_Missense_Mutation_p.P140F|MEPCE_uc022aio.1_Missense_Mutation_p.P140F|MEPCE_uc003uuv.3_Missense_Mutation_p.P140F	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	609	Bin3-type SAM.						methyltransferase activity	p.R608C(3)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCACCTACGCCCTGGGGGCATC	0.579000														36			13		0	0	0.004672	0	0
ST18	9705	broad.mit.edu	37	8	53044647	53044647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:53044647C>T	uc003xqz.2	-	16	2693	c.2537G>A	c.(2536-2538)aGa>aAa	p.R846K	ST18_uc011ldq.1_Missense_Mutation_p.R493K|ST18_uc011ldr.1_Missense_Mutation_p.R811K|ST18_uc011lds.1_Missense_Mutation_p.R751K|ST18_uc003xra.2_Missense_Mutation_p.R846K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	846						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTCCTTCTGTCTCTTGGCAGC	0.522000														51			13		0	0	0.001368	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091114	143091114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:143091114G>A	uc003qjd.3	-	4	5505	c.4762C>T	c.(4762-4764)Cca>Tca	p.P1588S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCTCCTGCTGGTAATGAAGAA	0.552000														32			24		0	0	0.003954	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39913434	39913434	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:39913434C>T	uc010xuz.2	+	17	2065	c.1740C>T	c.(1738-1740)acC>acT	p.T580T	PLEKHG2_uc010xuy.2_Silent_p.T521T|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Silent_p.T358T	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	580					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	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	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;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACAGCGAAACCCTCACATTCC	0.597000														19			10		0	0	0.000673	0	0
WDR75	84128	broad.mit.edu	37	2	190323591	190323591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:190323591C>T	uc002uql.1	+	6	742	c.682C>T	c.(682-684)Cgt>Tgt	p.R228C	WDR75_uc002uqm.1_Missense_Mutation_p.R164C|WDR75_uc002uqn.1_Missense_Mutation_p.R6C	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	228						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TGGCAAAATTCGTCTTTGGTC	0.418000														40			19		0	0	0.002299	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329680	88329680	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:88329680C>T	uc001vln.3	+	1	2256	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	SLITRK5_uc010tic.1_Silent_p.F438F|SLITRK5_uc021rlc.1_Silent_p.F679F	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	679						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGTCCGTCTTCGTGGCCGCCG	0.617000														14			14		0	0	0.001855	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	118759	118759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrGL000209.1:118759G>A	uc010yie.2	+	2	247	c.236G>A	c.(235-237)gGg>gAg	p.G79E	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.G76E|KIR2DL2_uc002qum.3_Missense_Mutation_p.G79E	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	79	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										CACCATGATGGGGTCTCCAAG	0.498000														12			53		0	0	0.003610	0	0
CDH23	64072	broad.mit.edu	37	10	73553142	73553142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:73553142C>T	uc001jrx.4	+	45	6838	c.6448C>T	c.(6448-6450)Cct>Tct	p.P2150S	CDH23_uc001jsg.4_5'Flank|CDH23_uc001jsh.4_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2153	Cadherin 20.				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						GGGCACCGTTCCTCTCTCGGG	0.597000														39			17		0	0	0.006122	0	0
RYR2	6262	broad.mit.edu	37	1	237806719	237806719	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:237806719C>T	uc001hyl.1	+	47	7434	c.7314C>T	c.(7312-7314)atC>atT	p.I2438I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2438	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.I2436M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTATCAGCATCGCTTTTCAGA	0.438000														46			28		0	0	0.006320	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130217842	130217842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:130217842G>A	uc004evz.3	+	3	799	c.454G>A	c.(454-456)Gga>Aga	p.G152R	ARHGAP36_uc004ewa.3_Missense_Mutation_p.G140R|ARHGAP36_uc004ewb.3_Missense_Mutation_p.G121R|ARHGAP36_uc004ewc.3_Missense_Mutation_p.G16R	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	152	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCGTCGTCGGGGAAACGTGGT	0.632000														10			24		0	0	0.002299	0	0
C1orf129	80133	broad.mit.edu	37	1	170955851	170955851	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:170955851G>A	uc010plz.2	+	10	1033	c.879_splice	c.e10+1	p.M293_splice	C1orf129_uc001ghg.3_Splice_Site_p.M293_splice|C1orf129_uc009wvy.3_Splice_Site_p.M100_splice	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	293							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGGTCACCATGGTAAGATACT	0.393000														31			16		0	0	0.007413	0	0
SCML4	256380	broad.mit.edu	37	6	108042121	108042121	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:108042121G>A	uc010kdf.3	-	5	1010	c.759C>T	c.(757-759)tcC>tcT	p.S253S	SCML4_uc003prz.4_Silent_p.S195S|SCML4_uc011eam.1_Silent_p.S253S|SCML4_uc003pry.4_Silent_p.S11S|SCML4_uc003psa.3_Silent_p.S224S	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	Homo sapiens sex comb on midleg-like 4 (Drosophila) (SCML4), mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGTTAAAGGTGGAGGCGGAGG	0.587000														10			19		0	0	0.001882	0	0
SP140L	93349	broad.mit.edu	37	2	231254709	231254709	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:231254709G>C	uc010fxm.1	+	10	1026	c.935G>C	c.(934-936)gGa>gCa	p.G312A	SP140L_uc010fxo.1_Intron	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	312	SAND.					nucleus	DNA binding|metal ion binding	p.G312G(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGGGTGAAGGGAATTTTACAT	0.398000														27			10		0	0	0.001855	0	0
WDR4	10785	broad.mit.edu	37	21	44282451	44282451	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:44282451G>A	uc002zci.3	-	4	580	c.507C>T	c.(505-507)atC>atT	p.I169I	WDR4_uc002zck.1_Silent_p.I169I|WDR4_uc002zcl.1_Silent_p.I23I|WDR4_uc010gpg.1_Silent_p.I169I|WDR4_uc011aew.1_Silent_p.I23I|WDR4_uc010gph.1_Silent_p.I23I	NM_033661	NP_387510	P57081	WDR4_HUMAN	Homo sapiens WD repeat domain 4 (WDR4), transcript variant 2, mRNA.	169					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		AGCTGACTCGGATCTTCTCGT	0.602000														8			8		0	0	0.004482	0	0
ZNF536	9745	broad.mit.edu	37	19	31039620	31039620	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:31039620G>A	uc002nsu.1	+	3	3232	c.3094G>A	c.(3094-3096)Gat>Aat	p.D1032N	ZNF536_uc010edd.1_Missense_Mutation_p.D1032N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1032					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAAACGCAAAGATAACACCAT	0.552000														17			21		0	0	0.001216	0	0
DNAH3	55567	broad.mit.edu	37	16	21031009	21031009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:21031009C>T	uc010vbe.2	-	40	5959	c.5959G>A	c.(5959-5961)Gat>Aat	p.D1987N		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1987					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)		TGGTTATCATCCATGCCCATG	0.423000														41			19		0	0	0.001216	0	0
LRP2	4036	broad.mit.edu	37	2	170011104	170011105	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:170011104_170011105GG>AA	uc002ues.3	-	65	12373_12374	c.12160_12161CC>TT	c.(12160-12162)cct>TTt	p.P4054F		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4054					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAGCAACAAAGGAGAGCTACCT	0.366000														23			10		0	0	0.004672	0	0
HDAC9	9734	broad.mit.edu	37	7	18688097	18688097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:18688097C>T	uc003sui.3	+	9	1299	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S	HDAC9_uc003sue.3_Missense_Mutation_p.P417S|HDAC9_uc011jyd.2_Missense_Mutation_p.P417S|HDAC9_uc003suh.3_Missense_Mutation_p.P417S|HDAC9_uc003suj.3_Missense_Mutation_p.P376S|HDAC9_uc011jya.2_Missense_Mutation_p.P415S|HDAC9_uc003sua.1_Missense_Mutation_p.P395S|HDAC9_uc003sud.2_Missense_Mutation_p.P417S|HDAC9_uc011jyc.2_Missense_Mutation_p.P376S|HDAC9_uc011jyb.2_Missense_Mutation_p.P373S|HDAC9_uc003suf.2_Missense_Mutation_p.P448S|HDAC9_uc010kud.2_Missense_Mutation_p.P420S|HDAC9_uc011jye.2_Missense_Mutation_p.P389S|HDAC9_uc011jyf.2_Missense_Mutation_p.P340S|HDAC9_uc010kue.1_Missense_Mutation_p.P160S	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	417					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)	AGGTGGAGTTCCCTTACATCC	0.428000														27			14		0	0	0.003163	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626916	108626916	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:108626916A>C	uc002tdv.3	+	8	1618	c.1342A>C	c.(1342-1344)Act>Cct	p.T448P	SLC5A7_uc010ywm.2_Missense_Mutation_p.T201P|SLC5A7_uc010fjj.3_Missense_Mutation_p.T448P|SLC5A7_uc010ywn.2_Missense_Mutation_p.T335P	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	448					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CCTGAGAATAACTGGAGGGGA	0.438000														31			26		0	0	0.007291	0	0
DENND4B	9909	broad.mit.edu	37	1	153906042	153906042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:153906042G>A	uc001fdd.1	-	19	3648	c.3247C>T	c.(3247-3249)Cct>Tct	p.P1083S		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	1083										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCAGGTCAGGAGGCAGCTCA	0.711000														21			6		0	0	0.001984	0	0
NRAS	4893	broad.mit.edu	37	1	115258747	115258747	+	Missense_Mutation	SNP	C	G	G	rs121913237		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:115258747C>G	uc009wgu.3	-	1	289	c.35G>C	c.(34-36)gGt>gCt	p.G12A		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	12			G -> C (in leukemia).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.G12D(754)|p.G12S(135)|p.G12V(119)|p.G12C(84)|p.G12A(84)|p.G12R(18)|p.G12N(4)|p.G12G(4)|p.A11T(3)|p.G12E(2)|p.G12P(2)|p.G12Y(2)|p.G12T(1)|p.G12?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCAACACCACCTGCTCCAAC	0.493000	G12D(697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC151_ENDOMETRIUM)|G12D(KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				58			45		0	0	0.003610	0	0
LGALS12	85329	broad.mit.edu	37	11	63273993	63273993	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:63273993C>T	uc001nxc.2	+	0	470	c.129C>T	c.(127-129)ttC>ttT	p.F43F	LGALS12_uc001nxa.2_Silent_p.F43F|LGALS12_uc001nxb.2_Silent_p.F43F|LGALS12_uc001nxd.2_5'Flank|LGALS12_uc001nxe.2_5'Flank|LGALS12_uc009yot.2_5'Flank	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	43					apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CACCAGTCTTCCACCCGGTGA	0.552000														70			27		0	0	0.003755	0	0
RCC2	55920	broad.mit.edu	37	1	17752038	17752038	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:17752038C>T	uc001bal.3	-	3	572	c.523_splice	c.e3+1	p.G175_splice	RCC2_uc001bam.3_Splice_Site_p.G175_splice	NM_001136204	NP_061185	Q9P258	RCC2_HUMAN	Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA.	175					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GGTACTCACCCCAGCTCCACA	0.627000														4			4		0	0	0.000602	0	0
GK2	2712	broad.mit.edu	37	4	80329289	80329289	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:80329289G>A	uc003hlu.3	-	0	84	c.66C>T	c.(64-66)tcC>tcT	p.S22S		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	22					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GAAAGCGAGTGGAGTTGGTGC	0.532000														15			9		0	0	0.006214	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606445	82606445	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:82606445A>G	uc011lfs.2	-	0	763	c.763T>C	c.(763-765)Tat>Cat	p.Y255H		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA.	255						integral to membrane	bile acid:sodium symporter activity	p.S254Y(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CTGTATATATAAGAATTGACA	0.373000														13			41		0	0	0.002222	0	0
C11orf30	56946	broad.mit.edu	37	11	76256911	76256911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:76256911C>T	uc001oxl.3	+	19	3487	c.3344C>T	c.(3343-3345)aCa>aTa	p.T1115I	C11orf30_uc001oxm.3_Missense_Mutation_p.T1017I|C11orf30_uc010rsb.2_Missense_Mutation_p.T1130I|C11orf30_uc010rsc.2_Missense_Mutation_p.T1116I|C11orf30_uc001oxn.3_Missense_Mutation_p.T1116I|C11orf30_uc010rsd.2_Missense_Mutation_p.T1024I|C11orf30_uc010rse.2_Missense_Mutation_p.T362I|C11orf30_uc001oxp.3_Intron	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	1115					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CAGCCTCCCACAGTTACAAAG	0.463000														31			11		0	0	0.001368	0	0
DDX27	55661	broad.mit.edu	37	20	47852896	47852896	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:47852896C>T	uc002xuh.3	+	13	1690	c.1629C>T	c.(1627-1629)acC>acT	p.T543T		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	543	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGCCTAATACCATCAAACATT	0.532000														84			25		0	0	0.005443	0	0
IGSF10	285313	broad.mit.edu	37	3	151165454	151165454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:151165454C>T	uc011bod.2	-	3	2315	c.2315G>A	c.(2314-2316)cGa>cAa	p.R772Q		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	772					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTATTTTCTCGCTTGTCTGG	0.507000														30			17		0	0	0.004007	0	0
GATA1	2623	broad.mit.edu	37	X	48650336	48650336	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:48650336G>A	uc004dkq.4	+	2	397	c.306G>A	c.(304-306)ggG>ggA	p.G102G		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	102					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V77_A120>A(2)|p.?(2)|p.V74_C199del(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GCAAGACGGGGCTCTACCCTG	0.607000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome									4			14		0	0	0.001855	0	0
COL27A1	85301	broad.mit.edu	37	9	116999285	116999285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:116999285C>T	uc011lxl.2	+	17	2644	c.2644C>T	c.(2644-2646)Ccc>Tcc	p.P882S	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	882	Collagen-like 5.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCAGGGTTCCCCGGTGCACG	0.617000														19			8		0	0	0.006214	0	0
GNAS	2778	broad.mit.edu	37	20	57428970	57428970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:57428970G>A	uc002xzw.3	+	0	935	c.650G>A	c.(649-651)aGc>aAc	p.S217N	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)			GGAGGCTACAGCCCTCCCCCT	0.642000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				5			3		0	0	0.004672	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199520	71199520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:71199520C>T	uc001xmm.3	-	10	2566	c.2566G>A	c.(2566-2568)Gaa>Aaa	p.E856K	MAP3K9_uc010ttk.2_Missense_Mutation_p.E584K|MAP3K9_uc001xmk.3_Missense_Mutation_p.E589K|MAP3K9_uc001xml.3_Missense_Mutation_p.E870K	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	856					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ACGACAATTTCATCGCTGTCG	0.602000														9			13		0	0	0.001855	0	0
AGRN	375790	broad.mit.edu	37	1	980598	980599	+	Nonsense_Mutation	DNP	AC	GA	GA	rs145920099		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:980598_980599AC>GA	uc001ack.2	+	12	2362_2363	c.2312_2313AC>GA	c.(2311-2313)tac>tGA	p.Y771*		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	771					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CAGACGCCCTACGGCTGCTGCC	0.688000														11			5		0	0	0.004672	0	0
NR4A3	8013	broad.mit.edu	37	9	102590451	102590451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:102590451G>A	uc022bky.1	+	3	928	c.160G>A	c.(160-162)Ggc>Agc	p.G54S	NR4A3_uc004bae.3_Missense_Mutation_p.G43S|NR4A3_uc004baf.1_Missense_Mutation_p.G43S	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	43					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CATGGACCTTGGCAGCACTGA	0.577000			T	EWSR1	extraskeletal myxoid chondrosarcoma									29			19		0	0	0.006122	0	0
NOX1	27035	broad.mit.edu	37	X	100105197	100105197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:100105197C>T	uc004egj.3	-	8	1282	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	NOX1_uc004egl.4_Missense_Mutation_p.G359E|NOX1_uc010nne.3_Missense_Mutation_p.G322E	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	359	FAD-binding FR-type.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TGTCCAGTCCCCTGCTGCTCG	0.473000														4			20		0	0	0.003330	0	0
IPO13	9670	broad.mit.edu	37	1	44422550	44422550	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:44422550C>T	uc001ckx.3	+	4	1968	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	391					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CAGTCTACTTCCAGCTGGTGG	0.507000														33			21		0	0	0.001216	0	0
SH2B1	25970	broad.mit.edu	37	16	28880699	28880699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:28880699C>T	uc002dri.3	+	6	1743	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Missense_Mutation_p.S125L|SH2B1_uc002drj.3_Missense_Mutation_p.S435L|SH2B1_uc002drk.3_Missense_Mutation_p.S435L|SH2B1_uc002drl.3_Missense_Mutation_p.S435L|SH2B1_uc010vdd.2_Missense_Mutation_p.S99L|SH2B1_uc010vde.2_Missense_Mutation_p.S435L|SH2B1_uc002drm.3_Missense_Mutation_p.S435L	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	435	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GACCGCCTGTCGCAGGGTAAG	0.642000														14			14		0	0	0.004990	0	0
SLC25A13	10165	broad.mit.edu	37	7	95820540	95820540	+	Missense_Mutation	SNP	G	A	A	rs137944390		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:95820540G>A	uc003uog.4	-	6	826	c.635C>T	c.(634-636)tCc>tTc	p.S212F	SLC25A13_uc003uof.4_Missense_Mutation_p.S212F|SLC25A13_uc011kik.2_Missense_Mutation_p.S104F	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	212					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AACTTGATGGGATGTGGTACC	0.343000														47			24		0	0	0.003330	0	0
PSD4	23550	broad.mit.edu	37	2	113950646	113950646	+	Silent	SNP	G	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:113950646G>T	uc002tjc.3	+	6	2043	c.1860G>T	c.(1858-1860)gtG>gtT	p.V620V	PSD4_uc002tjd.3_Silent_p.V241V|PSD4_uc002tje.3_Silent_p.V591V|PSD4_uc002tjf.3_Silent_p.V241V	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	620	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGGGCTGTGGCTGAGGAGT	0.627000														27			7		0.000157383	0.00019533	0.003080	1	0
RGS3	5998	broad.mit.edu	37	9	116224415	116224415	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:116224415A>T	uc004bhq.3	+	3	558	c.349A>T	c.(349-351)Aga>Tga	p.R117*	RGS3_uc004bhr.3_5'Flank|RGS3_uc004bhs.3_5'Flank	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	117					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTGCCCAGAAGAGATGAGTG	0.547000														39			34		0	0	0.003271	0	0
LCP2	3937	broad.mit.edu	37	5	169693889	169693889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:169693889G>A	uc003man.1	-	9	902	c.695C>T	c.(694-696)gCt>gTt	p.A232V	LCP2_uc011des.1_Missense_Mutation_p.A27V|LCP2_uc011det.1_Missense_Mutation_p.A61V|LCP2_uc010jjo.1_Missense_Mutation_p.A39V	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA.	232					T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TATTGAAGGAGCAGGGACTGG	0.507000														36			37		0	0	0.006230	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794925	124794925	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:124794925C>T	uc001qbk.3	-	1	532	c.126G>A	c.(124-126)ctG>ctA	p.L42L	HEPACAM_uc009zbj.3_5'Flank|HEPACAM_uc001qbl.1_Silent_p.L42L	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	42	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		p.R41C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGCCATGGATCAGGCGCACGG	0.617000														9			11		0	0	0.000978	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803578	185803578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:185803578G>A	uc002uph.3	+	3	4049	c.3455G>A	c.(3454-3456)gGa>gAa	p.G1152E		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1152			G -> R (in dbSNP:rs12105159).			intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGACCAGTAGGACCGAGGCTT	0.507000														62			30		0	0	0.002096	0	0
TTLL4	9654	broad.mit.edu	37	2	219602993	219602993	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:219602993C>T	uc002viy.3	+	2	964	c.594C>T	c.(592-594)gcC>gcT	p.A198A	TTLL4_uc010zkl.1_Silent_p.A33A|TTLL4_uc010fvx.3_Silent_p.A198A	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	198					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGAGCCTGGCCTCTGCCATCT	0.547000														64			22		0	0	0.001882	0	0
RNF10	9921	broad.mit.edu	37	12	121009075	121009075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:121009075C>T	uc001typ.4	+	13	2606	c.2123C>T	c.(2122-2124)cCc>cTc	p.P708L	RNF10_uc010szk.2_Intron|RNF10_uc001tyq.4_Missense_Mutation_p.P619L	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	708					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAGACTCTCCCTTCCCTTCC	0.527000														44			12		0	0	0.001368	0	0
ZC3H4	23211	broad.mit.edu	37	19	47597674	47597674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:47597674G>A	uc002pga.4	-	2	391	c.353C>T	c.(352-354)tCg>tTg	p.S118L	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	118							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTCTTCTTCGACCTCCTTTT	0.557000														166			84		0	0	0.003610	0	0
VARS	7407	broad.mit.edu	37	6	31747242	31747242	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:31747242G>A	uc003nxe.3	-	27	3783	c.3360C>T	c.(3358-3360)tcC>tcT	p.S1120S	VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_Silent_p.S57S	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	1120					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CGGCCCGCAGGGAGCGCACGG	0.692000														38			54		0	0	0.003610	0	0
ZWILCH	55055	broad.mit.edu	37	15	66811271	66811271	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:66811271G>A	uc002aqb.3	+	4	621	c.375G>A	c.(373-375)aaG>aaA	p.K125K	RPL4_uc002apx.3_Intron|ZWILCH_uc010bhu.1_Silent_p.K11K|ZWILCH_uc002aqa.3_Silent_p.K11K|ZWILCH_uc010bhv.3_Silent_p.K11K	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila) (ZWILCH), transcript variant 1, mRNA.	125					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						CCCATTTGAAGATTAATCTGC	0.398000														26			8		0	0	0.003080	0	0
LEPREL1	55214	broad.mit.edu	37	3	189712072	189712072	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:189712072C>T	uc011bsk.2	-	3	1022	c.634_splice	c.e3-1	p.E212_splice	LEPREL1_uc003fsg.3_Splice_Site_p.E31_splice	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	212					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTGTAACTCTCCTGTAATGAA	0.358000														20			4		0	0	0.000602	0	0
ZNF148	7707	broad.mit.edu	37	3	124952458	124952458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:124952458G>A	uc003ehx.4	-	8	1598	c.1112C>T	c.(1111-1113)tCg>tTg	p.S371L	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.S371L|ZNF148_uc010hsa.3_Missense_Mutation_p.S371L|ZNF148_uc003eia.4_Missense_Mutation_p.S371L|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	371					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CCCAACTGACGAATGTGGCAT	0.363000														33			26		0	0	0.004656	0	0
GPR148	344561	broad.mit.edu	37	2	131487345	131487345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:131487345G>A	uc002trv.2	+	0	703	c.621G>A	c.(619-621)atG>atA	p.M207I		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	207						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CACCAAGCATGGGCACCCAGC	0.552000														58			24		0	0	0.003954	0	0
SYT9	143425	broad.mit.edu	37	11	7439308	7439308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:7439308C>T	uc001mfe.3	+	4	1523	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	429	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.P429P(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GATGTCCCTCCCGAGAACATT	0.478000														25			18		0	0	0.002299	0	0
SLC24A6	80024	broad.mit.edu	37	12	113744325	113744325	+	Silent	SNP	G	A	A	rs142106014		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:113744325G>A	uc001tvc.3	-	13	1677	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	SLC24A6_uc001tuz.3_Silent_p.S194S|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Silent_p.S227S	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	489					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CAAAGCAGGCGGAGAACGCCA	0.607000														12			8		0	0	0.004482	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416935	57416935	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:57416935G>A	uc002eli.3	+	2	1252	c.1185G>A	c.(1183-1185)gtG>gtA	p.V395V		NM_002996	NP_002987	P78423	X3CL1_HUMAN	Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.	395					cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						ATGTCCTGGTGCCCGTGTGAA	0.592000														76			31		0	0	0.004878	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570287	47570288	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:47570287_47570288GG>AA	uc002pga.4	-	14	3275_3276	c.3237_3238CC>TT	c.(3235-3240)gaccct>gaTTct	p.P1080S	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	1080							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGCAGCCGAGGGTCGGTGGGGG	0.703000														14			9		0	0	0.004672	0	0
ECM2	1842	broad.mit.edu	37	9	95285032	95285032	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:95285032C>T	uc011lty.2	-	1	304	c.117G>A	c.(115-117)agG>agA	p.R39R	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Silent_p.R39R|ECM2_uc004asg.3_Silent_p.R39R|ECM2_uc011ltz.1_Silent_p.R39R|ECM2_uc004asi.3_Silent_p.R39R	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	39					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TTGAACTTTTCCTCAACCTTC	0.363000														50			37		0	0	0.006999	0	0
HAPLN3	145864	broad.mit.edu	37	15	89422478	89422478	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:89422478G>A	uc002bnd.3	-	4	783	c.702C>T	c.(700-702)tcC>tcT	p.S234S	HAPLN3_uc002bnc.3_Silent_p.S172S|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	172	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GCCCGTTGGGGGACTGGTAAG	0.652000											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			13		0	0	0.006122	0	0
NEK10	152110	broad.mit.edu	37	3	27326370	27326370	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:27326370G>A	uc003cdt.2	-	21	2146	c.1872C>T	c.(1870-1872)caC>caT	p.H624H	NEK10_uc003cds.1_Silent_p.H21H	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	624	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAGTAAAATGGTGATGTTTTT	0.323000														12			20		0	0	0.001523	0	0
LAMA2	3908	broad.mit.edu	37	6	129802525	129802525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:129802525C>T	uc021zfb.1	+	54	7795	c.7690C>T	c.(7690-7692)Ctt>Ttt	p.L2564F	LAMA2_uc003qbn.3_Missense_Mutation_p.L2562F|LAMA2_uc003qbo.3_Missense_Mutation_p.L2558F|BC035400_uc003qbq.3_Non-coding_Transcript	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2564	Laminin G-like 3.		L -> P (in MDC1A).		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)		CGGCATCATTCTTTTGGGAAG	0.488000														18			31		0	0	0.001512	0	0
RYR1	6261	broad.mit.edu	37	19	38990623	38990623	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:38990623C>T	uc002oit.3	+	44	7420	c.7290C>T	c.(7288-7290)atC>atT	p.I2430I	RYR1_uc002oiu.3_Silent_p.I2430I|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2430	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCGCCTTGATCGACCTGCTCG	0.612000														20			11		0	0	0.001855	0	0
POU6F2	11281	broad.mit.edu	37	7	39446295	39446295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:39446295C>T	uc003thb.2	+	6	1125	c.982C>T	c.(982-984)Ctt>Ttt	p.L328F	POU6F2_uc022acb.1_Missense_Mutation_p.L328F	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	328	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCTCTCCAGTCTTCAGGGGGT	0.517000														26			16		0	0	0.003163	0	0
CNTN6	27255	broad.mit.edu	37	3	1363427	1363427	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:1363427G>A	uc003boz.3	+	7	1122	c.855G>A	c.(853-855)ccG>ccA	p.P285P	CNTN6_uc011asj.2_Silent_p.P213P|CNTN6_uc003bpa.3_Silent_p.P285P	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	285	Ig-like C2-type 3.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTGAAATCCCGAACTTCCAAC	0.453000														32			32		0	0	0.003271	0	0
CCNDBP1	23582	broad.mit.edu	37	15	43478431	43478432	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:43478431_43478432GG>AA	uc001zqv.3	+	3	480	c.249_splice	c.e3+1	p.Q83_splice	CCNDBP1_uc021sjs.1_Splice_Site|CCNDBP1_uc010udl.2_Splice_Site|CCNDBP1_uc021sjt.1_Intron|CCNDBP1_uc021sju.1_Splice_Site|CCNDBP1_uc010bdb.3_Intron|CCNDBP1_uc001zqy.3_Splice_Site	NM_012142	NP_036274	O95273	CCDB1_HUMAN	Homo sapiens cyclin D-type binding-protein 1 (CCNDBP1), transcript variant 1, mRNA.	83	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		CGTCTCCACAGGTGGGCTTCAC	0.530000														5			6		0	0	0.004672	0	0
DARS	1615	broad.mit.edu	37	2	136691503	136691503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:136691503G>A	uc002tux.1	-	5	665	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	DARS_uc010fnj.1_Missense_Mutation_p.R61W	NM_001349	NP_001340	P14868	SYDC_HUMAN	Homo sapiens aspartyl-tRNA synthetase (DARS), mRNA.	161					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	ATP binding|aminoacylase activity|aspartate-tRNA ligase activity|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GCCTCAGGCCGAACAGCATCA	0.388000														26			9		0	0	0.000978	0	0
GCN1L1	10985	broad.mit.edu	37	12	120602154	120602154	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:120602154G>C	uc001txo.3	-	17	1847	c.1834C>G	c.(1834-1836)Ctc>Gtc	p.L612V		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	612					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAGAACTGAGGACAGTCTTC	0.592000														36			21		0	0	0.002780	0	0
MAEA	10296	broad.mit.edu	37	4	1332318	1332318	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:1332318C>T	uc003gda.3	+	7	1038	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	MAEA_uc003gdd.3_Non-coding_Transcript|MAEA_uc003gdb.3_Silent_p.S295S|MAEA_uc011bvb.2_Silent_p.S268S|MAEA_uc003gdc.3_Silent_p.S268S|MAEA_uc011bvc.2_Silent_p.S335S|MAEA_uc011bvd.2_Silent_p.S288S|MAEA_uc010ibt.3_Silent_p.S109S	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	336					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GTGCCAACTCCCGCCTGGTCT	0.622000														15			6		0	0	0.001168	0	0
SRCAP	10847	broad.mit.edu	37	16	30740727	30740727	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:30740727C>T	uc002dze.1	+	26	6346	c.5961C>T	c.(5959-5961)ccC>ccT	p.P1987P	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.P1782P	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1987					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)			AGGCACCTCCCCCTTCCCTGC	0.587000														17			17		0	0	0.004007	0	0
CES1	1066	broad.mit.edu	37	16	55857493	55857493	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:55857493G>A	uc002eim.3	-	3	613	c.505C>T	c.(505-507)Caa>Taa	p.Q169*	CES1_uc002eil.3_Nonsense_Mutation_p.Q170*|CES1_uc002ein.3_Nonsense_Mutation_p.Q169*	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	169					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.Q170*(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	AGGCGATATTGAATGGTCACC	0.572000														60			9		0	0	0.001368	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200817237	200817237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:200817237G>A	uc001gvl.3	+	11	1643	c.1373G>A	c.(1372-1374)gGa>gAa	p.G458E	CAMSAP2_uc001gvk.3_Missense_Mutation_p.G447E|CAMSAP2_uc001gvm.3_Missense_Mutation_p.G431E	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	458						cytoplasm|microtubule	protein binding										CCAAACCGAGGAATCACTCGT	0.333000														43			19		0	0	0.006122	0	0
TMEM59L	25789	broad.mit.edu	37	19	18729300	18729300	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:18729300C>T	uc002njy.4	+	6	985	c.898C>T	c.(898-900)Cag>Tag	p.Q300*		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	300						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CCTCAAGTTCCAGGTGGGTGG	0.642000														3			3		0	0	0.004672	0	0
ZNF844	284391	broad.mit.edu	37	19	12187067	12187067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:12187067C>T	uc002mtb.2	+	3	1275	c.1132C>T	c.(1132-1134)Cgt>Tgt	p.R378C	ZNF844_uc010dym.1_Missense_Mutation_p.R221C	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TCTCCCAGTTCGTTTTGAAGA	0.373000														4			3		0	0	0.004672	0	0
ULK4	54986	broad.mit.edu	37	3	41959954	41959954	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:41959954G>C	uc003ckv.4	-	6	923	c.722C>G	c.(721-723)cCg>cGg	p.P241R	ULK4_uc003ckw.2_Missense_Mutation_p.P241R|ULK4_uc003ckx.1_Missense_Mutation_p.P241R	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	241	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTTACCTTTCGGAATAGGTGG	0.318000														50			18		0	0	0.001523	0	0
PLEC	5339	broad.mit.edu	37	8	144994766	144994766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:144994766G>A	uc003zaf.1	-	31	9804	c.9634C>T	c.(9634-9636)Cgg>Tgg	p.R3212W	PLEC_uc003zab.1_Missense_Mutation_p.R3075W|PLEC_uc003zac.1_Missense_Mutation_p.R3079W|PLEC_uc003zad.2_Missense_Mutation_p.R3075W|PLEC_uc003zae.1_Missense_Mutation_p.R3043W|PLEC_uc003zag.1_Missense_Mutation_p.R3053W|PLEC_uc003zah.2_Missense_Mutation_p.R3061W|PLEC_uc003zaj.2_Missense_Mutation_p.R3102W	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3212	Globular 2.				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						ACGGTCAGCCGGGCGCTGGTG	0.657000														35			6		0	0	0.001984	0	0
C15orf39	56905	broad.mit.edu	37	15	75500451	75500451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:75500451C>T	uc002azp.4	+	1	2382	c.2062C>T	c.(2062-2064)Ccc>Tcc	p.P688S	C15orf39_uc002azq.4_Missense_Mutation_p.P688S|C15orf39_uc021sqm.1_Missense_Mutation_p.P447S|C15orf39_uc002azr.4_Missense_Mutation_p.P86S	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	688										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CACATCTGGGCCCATTGGACT	0.667000														24			6		0	0	0.003080	0	0
NIN	51199	broad.mit.edu	37	14	51224663	51224663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:51224663G>A	uc001wyi.3	-	17	3276	c.3085C>T	c.(3085-3087)Ctc>Ttc	p.L1029F	NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Missense_Mutation_p.L1029F|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Missense_Mutation_p.L1029F	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1029					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AGCATTGAGAGAGGAGATGTT	0.517000			T	PDGFRB	MPD									61			89		0	0	0.003610	0	0
GPR35	2859	broad.mit.edu	37	2	241569905	241569905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:241569905G>A	uc010fzi.2	+	5	1501	c.629G>A	c.(628-630)gGa>gAa	p.G210E	GPR35_uc010fzh.2_Missense_Mutation_p.G210E|GPR35_uc021vze.1_Missense_Mutation_p.G179E|GPR35_uc002vzs.2_Missense_Mutation_p.G179E	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	179						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CCGCTGCTGGGATTCTACCTG	0.667000														29			12		0	0	0.001855	0	0
ABCA10	10349	broad.mit.edu	37	17	67212047	67212047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:67212047C>T	uc010dfa.1	-	8	1646	c.767G>A	c.(766-768)gGa>gAa	p.G256E	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Missense_Mutation_p.G148E	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	256					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CACAGTGAATCCCAGACATCC	0.423000														57			20		0	0	0.001523	0	0
ADAM28	10863	broad.mit.edu	37	8	24209551	24209551	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:24209551C>G	uc003xdy.3	+	20	2313	c.2230C>G	c.(2230-2232)Ccc>Gcc	p.P744A	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.P431A	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	744					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGGCAATGAGCCCCCAGCCTC	0.403000														18			24		0	0	0.007291	0	0
FAM76A	199870	broad.mit.edu	37	1	28071294	28071294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:28071294C>T	uc001bor.3	+	5	688	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	FAM76A_uc009vtb.3_Missense_Mutation_p.R162C|FAM76A_uc001boq.3_Missense_Mutation_p.R162C|FAM76A_uc001bos.3_Missense_Mutation_p.R196C|FAM76A_uc001bot.3_Missense_Mutation_p.R162C|FAM76A_uc010ofm.2_Missense_Mutation_p.R111C	NM_001143912	NP_001137384	Q8TAV0	FA76A_HUMAN	Homo sapiens family with sequence similarity 76, member A (FAM76A), transcript variant 1, mRNA.	162										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGTATAGTCGCCTGAGTGG	0.488000														30			13		0	0	0.003163	0	0
KCNA2	3737	broad.mit.edu	37	1	111147292	111147292	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:111147292T>C	uc021oro.1	-	0	113	c.113A>G	c.(112-114)aAc>aGc	p.N38S	KCNA2_uc009wfv.2_Missense_Mutation_p.N38S|KCNA2_uc009wfw.3_Missense_Mutation_p.N38S	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	38						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CCCTGAGATGTTGATCACCAC	0.582000														68			103		0	0	0.003610	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050284	110050284	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:110050284G>A	uc021org.1	-	0	1251	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S	AMIGO1_uc001dxx.4_Silent_p.S417S	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	417					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TACTAAGCATGGAAGAGCTGA	0.572000														20			13		0	0	0.001368	0	0
ERC2	26059	broad.mit.edu	37	3	56330398	56330398	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:56330398G>A	uc021wzo.1	-	1	863	c.723C>T	c.(721-723)ctC>ctT	p.L241L	ERC2_uc003dhr.1_Silent_p.L241L	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	241						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTTGCTGGAGGAGGTGGTTGA	0.567000														39			21		0	0	0.001523	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401410	77401410	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:77401410A>T	uc002ffc.4	-	3	1125	c.706T>A	c.(706-708)Tct>Act	p.S236T	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	236					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CGACTCTGAGATGCATGGGGA	0.483000														61			18		0	0	0.001216	0	0
FANCA	2175	broad.mit.edu	37	16	89815171	89815171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:89815171G>A	uc002fou.1	-	32	3286	c.3244C>T	c.(3244-3246)Ctc>Ttc	p.L1082F	FANCA_uc010vpn.1_Missense_Mutation_p.L1082F|FANCA_uc010vpo.2_Missense_Mutation_p.L168F	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	1082			L -> P (in FA).		DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGGCGGAGGAGGATCCTGGAA	0.582000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					22			7		0	0	0.004482	0	0
RASD2	23551	broad.mit.edu	37	22	35947680	35947680	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:35947680C>T	uc003anx.3	+	2	607	c.402C>T	c.(400-402)ccC>ccT	p.P134P	RASD2_uc003any.3_Silent_p.P134P	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	134					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CGGAGCTGCCCATGGTCATCT	0.622000														18			9		0	0	0.000673	0	0
LCA5	167691	broad.mit.edu	37	6	80223457	80223458	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:80223457_80223458GG>AA	uc003piy.3	-	4	803	c.191_splice	c.e4-1	p.A64_splice	LCA5_uc003pix.3_Splice_Site_p.A64_splice|LCA5_uc011dyr.2_Splice_Site_p.A64_splice	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	64					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GTTTCCGAGGGGCTAAAAAAGA	0.436000														46			52		0	0	0.004672	0	0
SRRM2	23524	broad.mit.edu	37	16	2811958	2811958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:2811958C>T	uc002crk.3	+	10	1978	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	SRRM2_uc002crj.1_Missense_Mutation_p.P381S|SRRM2_uc002crl.1_Missense_Mutation_p.P477S|SRRM2_uc010bsu.1_Missense_Mutation_p.P381S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	477	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TTCTCATACCCCCTCCCGTAG	0.562000														44			11		0	0	0.000978	0	0
TDRKH	11022	broad.mit.edu	37	1	151747916	151747916	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:151747916C>T	uc009wnb.1	-	9	1568	c.1386G>A	c.(1384-1386)ggG>ggA	p.G462G	TDRKH_uc001eyy.2_Silent_p.G238G|TDRKH_uc001ezb.4_Silent_p.G458G|TDRKH_uc001ezc.4_Silent_p.G417G|TDRKH_uc001eza.4_Silent_p.G462G|TDRKH_uc001ezd.4_Silent_p.G462G|TDRKH_uc010pdn.1_Silent_p.G238G	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	462							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGTTGAGATCCCAGTCTGGA	0.443000														54			21		0	0	0.002780	0	0
AMOT	154796	broad.mit.edu	37	X	112024185	112024185	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:112024185T>A	uc004epr.3	-	8	2420	c.2402A>T	c.(2401-2403)cAc>cTc	p.H801L	AMOT_uc004eps.3_Missense_Mutation_p.H392L|AMOT_uc011mtc.1_Missense_Mutation_p.H41L|MIR4329_uc022ccu.1_5'Flank	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	801					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGTGGATGAGTGGGAGAGCAA	0.537000														16			43		0	0	0.002222	0	0
STAG3	10734	broad.mit.edu	37	7	99799849	99799849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:99799849G>A	uc003utx.1	+	23	2604	c.2449G>A	c.(2449-2451)Ggg>Agg	p.G817R	STAG3_uc011kjk.1_Missense_Mutation_p.G759R|GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc003uua.4_3'UTR|STAG3_uc003uub.1_Missense_Mutation_p.G41R	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	817					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATGATTGTTGGGGGCCGTGA	0.468000														68			37		0	0	0.006999	0	0
LSM14A	26065	broad.mit.edu	37	19	34687573	34687573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:34687573C>T	uc002nvb.4	+	2	516	c.320C>T	c.(319-321)tCc>tTc	p.S107F	LSM14A_uc002nva.4_Missense_Mutation_p.S107F|LSM14A_uc010xru.2_Missense_Mutation_p.S107F	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	107					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TCATTCCAGTCCATGGGTTCT	0.433000														83			37		0	0	0.006230	0	0
MMP9	4318	broad.mit.edu	37	20	44639787	44639787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:44639787C>T	uc002xqz.3	+	4	674	c.655C>T	c.(655-657)Cca>Tca	p.P219S		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	219					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TGCAGTGGTTCCAACTCGGTT	0.632000														127			69		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9086891	9086891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:9086891C>T	uc002mkp.3	-	0	5128	c.4924G>A	c.(4924-4926)Gga>Aga	p.G1642R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1642	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						AGGGTGACTCCACTACTACTG	0.507000														68			27		0	0	0.004656	0	0
MOV10L1	54456	broad.mit.edu	37	22	50537966	50537966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:50537966C>T	uc003bjj.3	+	2	460	c.377C>T	c.(376-378)tCc>tTc	p.S126F	MOV10L1_uc003bjk.4_Missense_Mutation_p.S126F|MOV10L1_uc011arp.2_Missense_Mutation_p.S106F|MOV10L1_uc010han.3_Missense_Mutation_p.S106F	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	126					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGTGTGACTTCCCTGGTGGAG	0.532000														28			17		0	0	0.007413	0	0
RRP9	9136	broad.mit.edu	37	3	51969227	51969227	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:51969227G>A	uc003dbw.1	-	10	1059	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	340					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CGTCCGCGCCGGACACCATGT	0.632000														37			16		0	0	0.007413	0	0
ZNF676	163223	broad.mit.edu	37	19	22363473	22363473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:22363473G>A	uc002nqs.1	-	2	1364	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	349					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)				AAGGATTGAGGATCGATTAAA	0.403000														17			10		0	0	0.000673	0	0
TDRKH	11022	broad.mit.edu	37	1	151748675	151748675	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:151748675G>A	uc009wnb.1	-	7	1296	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	TDRKH_uc001eyy.2_Nonsense_Mutation_p.R148*|TDRKH_uc001ezb.4_Nonsense_Mutation_p.R368*|TDRKH_uc001ezc.4_Nonsense_Mutation_p.R327*|TDRKH_uc001eza.4_Nonsense_Mutation_p.R372*|TDRKH_uc001ezd.4_Nonsense_Mutation_p.R372*|TDRKH_uc010pdn.1_Nonsense_Mutation_p.R148*	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	372	Tudor.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCGGGCTCGATACCAGGAA	0.507000														41			23		0	0	0.003954	0	0
MYL10	93408	broad.mit.edu	37	7	101256766	101256766	+	Missense_Mutation	SNP	C	T	T	rs147592822	by1000genomes	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:101256766C>T	uc003uyr.3	-	7	848	c.670G>A	c.(670-672)Gag>Aag	p.E224K		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.	224	EF-hand 3.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TAATCCTTCTCTTCACCGTGA	0.537000														51			14		0	0	0.003163	0	0
LRRC27	80313	broad.mit.edu	37	10	134188633	134188633	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:134188633C>G	uc010quw.1	+	10	1675	c.1480C>G	c.(1480-1482)Cga>Gga	p.R494G	LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Missense_Mutation_p.R494G|LRRC27_uc001llj.2_Missense_Mutation_p.R432G	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	494										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CAAAGATCGTCGACGGGCGGC	0.468000														25			10		0	0	0.000673	0	0
MAP2K3	5606	broad.mit.edu	37	17	21207854	21207854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:21207854C>T	uc002gys.3	+	7	950	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S	MAP2K3_uc002gyt.3_Missense_Mutation_p.P200S|MAP2K3_uc021tsq.1_Missense_Mutation_p.P200S|MAP2K3_uc021tsr.1_Missense_Mutation_p.P200S	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	229	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|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|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CGGCTGCAAGCCCTACATGGC	0.607000														16			4		0	0	0.000248	0	0
USH2A	7399	broad.mit.edu	37	1	215914744	215914744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:215914744C>T	uc001hku.1	-	59	12071	c.11684G>A	c.(11683-11685)gGa>gAa	p.G3895E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3895	Fibronectin type-III 24.		G -> E (in USH2A).		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)		GATGATGATTCCATTTGGTTT	0.398000										HNSCC(13;0.011)				55			33		0	0	0.003755	0	0
JKAMP	51528	broad.mit.edu	37	14	59951795	59951796	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:59951795_59951796GG>AA	uc001xei.4	+	0	509_510	c.7_8GG>AA	c.(7-9)gga>AAa	p.G3K	C14orf149_uc001xee.1_5'Flank|C14orf149_uc010trx.1_5'Flank|JKAMP_uc001xef.4_Intron|JKAMP_uc001xeh.4_Intron|JKAMP_uc001xeg.4_Missense_Mutation_p.G3K|JKAMP_uc010try.2_Intron|JKAMP_uc001xej.4_5'Flank	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	Homo sapiens JNK1/MAPK8-associated membrane protein (JKAMP), transcript variant 2, mRNA.	0					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GGAAATGAAAGGAGAAATTCAA	0.411000														52			34		0	0	0.004672	0	0
LOC649330	649330	broad.mit.edu	37	1	12908051	12908051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:12908051G>A	uc010obf.2	-	1	318	c.92C>T	c.(91-93)tCg>tTg	p.S31L	LOC649330_uc009vno.2_Missense_Mutation_p.S31L	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	31							nucleic acid binding|nucleotide binding										CTCCACATCCGATTTCTTGAC	0.463000														63			6		0	0	0.001984	0	0
TAF1	6872	broad.mit.edu	37	X	70683687	70683687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:70683687G>A	uc004dzu.4	+	37	5461	c.5410G>A	c.(5410-5412)Gag>Aag	p.E1804K	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.E1825K|TAF1_uc004dzv.4_Missense_Mutation_p.E1012K|TAF1_uc010nle.1_Intron|TAF1_uc010nlf.1_Intron|TAF1_uc004dzx.2_Intron|TAF1_uc004dzy.2_Intron|TAF1_uc004dzw.1_Intron|TAF1_uc010nlg.1_Intron	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1804	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGGGAGCTATGAGGAGCCTGA	0.512000														1			13		0	0	0.002450	0	0
PRDM16	63976	broad.mit.edu	37	1	3334519	3334520	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:3334519_3334520CC>TT	uc001akf.3	+	10	2901_2902	c.2819_2820CC>TT	c.(2818-2820)tcc>tTT	p.S940F	PRDM16_uc001ake.3_Missense_Mutation_p.S940F|PRDM16_uc009vlh.3_Missense_Mutation_p.S640F|PRDM16_uc001akc.3_Missense_Mutation_p.S939F	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	940	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)		CCAACGCTCTCCGACCCCATCC	0.663000			T	EVI1	"""MDS, AML"""									15			9		0	0	0.004672	0	0
OR4M2	390538	broad.mit.edu	37	15	22369004	22369004	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:22369004C>T	uc010tzu.2	+	0	527	c.429C>T	c.(427-429)atC>atT	p.I143I	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTGCTGTATCCTGGTGGCTC	0.507000														136			42		0	0	0.002222	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150620962	150620962	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:150620962G>A	uc001evj.2	-	4	910	c.693C>T	c.(691-693)tcC>tcT	p.S231S	GOLPH3L_uc010pci.1_Silent_p.S187S	NM_018178	NP_060648	Q9H4A5	GLP3L_HUMAN	Homo sapiens golgi phosphoprotein 3-like (GOLPH3L), mRNA.	231						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|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;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GCACATCAGAGGAGTGGGCTA	0.478000														56			28		0	0	0.002836	0	0
POU6F2	11281	broad.mit.edu	37	7	39379484	39379484	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:39379484A>G	uc003thb.2	+	5	898	c.755A>G	c.(754-756)cAa>cGa	p.Q252R	POU6F2_uc022acb.1_Missense_Mutation_p.Q252R|POU6F2_uc010kxo.3_Missense_Mutation_p.Q244R	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	252	Gln-rich.|Pro-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						cagcagcaccaaccccactcc	0.657000														11			6		0	0	0.001984	0	0
MYO3A	53904	broad.mit.edu	37	10	26482238	26482238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:26482238C>T	uc001isn.2	+	31	4903	c.4543C>T	c.(4543-4545)Cat>Tat	p.H1515Y	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1515					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTATCTACTTCATGTAAGTGG	0.443000														8			5		0	0	0.000602	0	0
NDST2	8509	broad.mit.edu	37	10	75567398	75567398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:75567398G>A	uc001jvk.2	-	2	1553	c.749C>T	c.(748-750)cCc>cTc	p.P250L	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Missense_Mutation_p.P127L|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Missense_Mutation_p.P127L	NM_003635	NP_003626	P52849	NDST2_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA.	250	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					TGGCACTGCGGGCTCAGCTGG	0.582000														19			13		0	0	0.001368	0	0
FAM75D1	389763	broad.mit.edu	37	9	84606346	84606346	+	Silent	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:84606346T>C	uc004amn.3	+	3	1008	c.961T>C	c.(961-963)Ttg>Ctg	p.L321L		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	321						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						TCTCACCATCTTGAAGACTTT	0.478000														111			41		0	0	0.006999	0	0
MYH10	4628	broad.mit.edu	37	17	8455375	8455375	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:8455375T>A	uc002glm.3	-	8	1004	c.908A>T	c.(907-909)gAa>gTa	p.E303V	MYH10_uc002gll.3_Missense_Mutation_p.E293V|MYH10_uc010cnx.3_Missense_Mutation_p.E302V|MYH10_uc010cny.1_Non-coding_Transcript	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	293	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTTTAGGTGTTCTCCTGCTCC	0.328000														6			18		0	0	0.002299	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981885	61981885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:61981885G>A	uc002yes.2	-	4	1056	c.878C>T	c.(877-879)aCc>aTc	p.T293I	CHRNA4_uc002yet.1_Missense_Mutation_p.T117I|CHRNA4_uc010gke.1_Missense_Mutation_p.T222I|CHRNA4_uc002yev.1_Missense_Mutation_p.T117I|CHRNA4_uc010gkf.1_Missense_Mutation_p.T117I	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	293					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GATGATCTCGGTGATGAGCAG	0.582000														26			17		0	0	0.004007	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204378971	204378972	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:204378971_204378972GG>AA	uc001hav.4	-	0	1973_1974	c.1568_1569CC>TT	c.(1567-1569)tcc>tTT	p.S523F		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15B (PPP1R15B), mRNA.	523					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CAGACTGGGAGGAATTCTCTAG	0.475000														24			13		0	0	0.004672	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249597	140249597	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140249597C>T	uc003lia.2	+	0	1767	c.909C>T	c.(907-909)gtC>gtT	p.V303V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.V303V	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	319	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)			AAGTGAGGGTCAATGGAACTT	0.393000														8			11		0	0	0.000978	0	0
SPRY1	10252	broad.mit.edu	37	4	124323681	124323681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:124323681C>T	uc003ifa.3	+	1	1122	c.935C>T	c.(934-936)tCc>tTc	p.S312F	SPRY1_uc003ifb.3_Missense_Mutation_p.S312F|SPRY1_uc021xro.1_Missense_Mutation_p.S312F	NM_199327	NP_955359	O43609	SPY1_HUMAN	Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA.	312					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AGCTGCCCCTCCCGGGGTCAG	0.468000														50			28		0	0	0.002096	0	0
SORCS3	22986	broad.mit.edu	37	10	106971008	106971008	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:106971008G>A	uc001kyi.1	+	17	2602	c.2375_splice	c.e17+1	p.G792_splice	SORCS3_uc010qqz.1_Splice_Site	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	792						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AACAGCACTGGGTAAGTAAAA	0.463000														7			5		0	0	0.000602	0	0
PPWD1	23398	broad.mit.edu	37	5	64878967	64878967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:64878967G>A	uc003jtv.4	+	7	1460	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	PPWD1_uc011cqv.2_Missense_Mutation_p.E455K|PPWD1_uc011cqw.2_Missense_Mutation_p.E329K	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	Homo sapiens peptidylprolyl isomerase domain and WD repeat containing 1 (PPWD1), mRNA.	485					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.A484G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TACTCAAGCTGAAGGACCTAA	0.403000														24			26		0	0	0.003954	0	0
NF1	4763	broad.mit.edu	37	17	29559101	29559101	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:29559101C>T	uc002hgg.3	+	24	3591	c.3208C>T	c.(3208-3210)Cag>Tag	p.Q1070*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q1070*|NF1_uc010csn.2_Nonsense_Mutation_p.Q930*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q103*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1070					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.?(4)	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)		AGATTTGGACCAGGCAAGCAT	0.373000			"""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)				9			7		0	0	0.001984	0	0
SALL4	57167	broad.mit.edu	37	20	50407835	50407835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:50407835G>A	uc002xwh.4	-	1	1288	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	396					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATCTGCAAGGAGCTATCAGT	0.547000														31			15		0	0	0.004007	0	0
PPFIA2	8499	broad.mit.edu	37	12	81769697	81769697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:81769697C>T	uc001szo.2	-	9	1170	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E263K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E238K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E337K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E337K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E319K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E337K|PPFIA2_uc010sue.2_Missense_Mutation_p.E237K	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	263										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATTCTTTCTTCCATATCTTCC	0.313000														36			15		0	0	0.004990	0	0
MYO1H	283446	broad.mit.edu	37	12	109862586	109862586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:109862586G>A	uc010sxn.1	+	15	1630	c.1630G>A	c.(1630-1632)Gaa>Aaa	p.E544K		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TATCCTGAGGGAATGCTTCCT	0.502000														23			9		0	0	0.000978	0	0
TRPM3	80036	broad.mit.edu	37	9	73152011	73152011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:73152011G>A	uc004aid.3	-	24	4226	c.3982C>T	c.(3982-3984)Cca>Tca	p.P1328S	TRPM3_uc004ahu.3_Missense_Mutation_p.P1170S|TRPM3_uc004ahv.3_Missense_Mutation_p.P1130S|TRPM3_uc004ahw.3_Missense_Mutation_p.P1200S|TRPM3_uc004ahx.3_Missense_Mutation_p.P1187S|TRPM3_uc004ahy.3_Missense_Mutation_p.P1190S|TRPM3_uc004ahz.3_Missense_Mutation_p.P1177S|TRPM3_uc004aia.3_Missense_Mutation_p.P1175S|TRPM3_uc004aib.3_Missense_Mutation_p.P1165S|TRPM3_uc004aic.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1353						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATTAAGGTTGGAGAAGTTGGG	0.453000														93			25		0	0	0.003954	0	0
LOC646214	646214	broad.mit.edu	37	15	21936799	21936799	+	RNA	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:21936799C>T	uc010tzj.1	-	0		c.3941G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		AAGGGATTTTCATTGAGGTAT	0.448000														77			11		0	0	0.001368	0	0
EIF3B	8662	broad.mit.edu	37	7	2415157	2415157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:2415157C>T	uc003slx.3	+	13	2106	c.2023C>T	c.(2023-2025)Cat>Tat	p.H675Y	EIF3B_uc003sly.3_Missense_Mutation_p.H675Y|EIF3B_uc003sma.3_Missense_Mutation_p.H403Y|EIF3B_uc003smb.3_5'Flank	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	675					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CTGGTGGAGCCATAAGGTGCA	0.582000														36			16		0	0	0.004990	0	0
PTPN23	25930	broad.mit.edu	37	3	47447872	47447872	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:47447872C>T	uc003crf.1	+	6	700	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	PTPN23_uc011baw.1_Silent_p.L167L|PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Silent_p.L72L	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	202	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAGAGCTTTCTGGTGGCCCG	0.627000														22			14		0	0	0.004990	0	0
AKAP12	9590	broad.mit.edu	37	6	151671352	151671352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:151671352C>T	uc011eep.2	+	3	2066	c.1826C>T	c.(1825-1827)cCc>cTc	p.P609L	AKAP12_uc003qoe.3_Missense_Mutation_p.P609L|AKAP12_uc003qof.3_Missense_Mutation_p.P511L|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.P504L	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	609	AKAP 1.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGTGTCACTCCCTGGGCATCA	0.507000														6			5		0	0	0.000602	0	0
MACC1	346389	broad.mit.edu	37	7	20199458	20199458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:20199458C>T	uc003sus.4	-	4	835	c.526G>A	c.(526-528)Gag>Aag	p.E176K	MACC1_uc010kug.3_Missense_Mutation_p.E176K	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	176					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTATAAGCCTCCCGATCATTT	0.468000														41			18		0	0	0.007413	0	0
CDCA5	113130	broad.mit.edu	37	11	64847068	64847068	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:64847068G>A	uc001ocp.2	-	4	600	c.435C>T	c.(433-435)tcC>tcT	p.S145S		NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN	Homo sapiens cell division cycle associated 5 (CDCA5), mRNA.	145					G1/S transition of mitotic cell cycle|cell division|double-strand break repair|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCCGGCTGTAGGAACGCCTGA	0.632000														15			5		0	0	0.001984	0	0
BAI1	575	broad.mit.edu	37	8	143602235	143602235	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:143602235C>T	uc003ywm.3	+	18	3156	c.2973C>T	c.(2971-2973)atC>atT	p.I991I		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	991					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			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)					GCCTGTCCATCATCTCCTCCA	0.577000														32			21		0	0	0.002780	0	0
CLVS2	134829	broad.mit.edu	37	6	123319199	123319199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:123319199G>A	uc003pzi.1	+	1	1146	c.277G>A	c.(277-279)Gac>Aac	p.D93N		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	93					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.T92T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TAAGGCCACCGACCCTGGCAT	0.542000														23			21		0	0	0.002780	0	0
DHX37	57647	broad.mit.edu	37	12	125441594	125441594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:125441594G>A	uc001ugy.3	-	16	2344	c.2245C>T	c.(2245-2247)Ccg>Tcg	p.P749S		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	749							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TTCTGGGGCGGTTGCAGGGCA	0.627000														36			24		0	0	0.003330	0	0
CACNA1S	779	broad.mit.edu	37	1	201010664	201010664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:201010664C>T	uc001gvv.3	-	40	5329	c.5102G>A	c.(5101-5103)gGa>gAa	p.G1701E		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1701					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGGGCTCGTCCTCTGGTAGC	0.562000														14			10		0	0	0.001368	0	0
GRIA3	2892	broad.mit.edu	37	X	122598946	122598946	+	Silent	SNP	T	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:122598946T>A	uc004etq.4	+	12	2599	c.2307T>A	c.(2305-2307)ccT>ccA	p.P769P	GRIA3_uc004etr.4_Silent_p.P769P|GRIA3_uc004ets.4_Non-coding_Transcript	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	769					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TGGCAACCCCTAAAGGCTCAG	0.403000														9			31		0	0	0.003271	0	0
XIRP2	129446	broad.mit.edu	37	2	168105004	168105004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:168105004C>T	uc002udx.3	+	8	7191	c.7102C>T	c.(7102-7104)Cct>Tct	p.P2368S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P2193S|XIRP2_uc010fpq.3_Missense_Mutation_p.P2146S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2193					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						GCCGCCTCCTCCTCCTCCAAC	0.473000														63			28		0	0	0.005443	0	0
RIC3	79608	broad.mit.edu	37	11	8132470	8132470	+	Silent	SNP	C	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:8132470C>G	uc010rbm.1	-	5	1023	c.969G>C	c.(967-969)tcG>tcC	p.S323S	RIC3_uc001mgb.2_Silent_p.S133S|RIC3_uc010rbl.1_Silent_p.S245S|RIC3_uc001mgd.2_Silent_p.S295S|RIC3_uc001mgc.2_Silent_p.S294S|RIC3_uc009yfm.2_Silent_p.S214S|RIC3_uc001mge.2_Silent_p.S113S|RIC3_uc009yfn.2_Silent_p.S98S	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	295						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTGGATCACACGAGGTAACAG	0.473000														30			33		0	0	0.002836	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105912847	105912848	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:105912847_105912848CC>TT	uc002tcq.3	-	3	1087_1088	c.1003_1004GG>AA	c.(1003-1005)gga>AAa	p.G335K	TGFBRAP1_uc010fjc.3_Missense_Mutation_p.G105K|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.G335K	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	335					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CCTCCGGGCTCCTTTTGCTAAA	0.391000														64			20		0	0	0.004672	0	0
PCLO	27445	broad.mit.edu	37	7	82579779	82579779	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:82579779G>A	uc003uhx.2	-	5	10414	c.10125C>T	c.(10123-10125)acC>acT	p.T3375T	PCLO_uc003uhv.2_Silent_p.T3375T|PCLO_uc010lec.3_Silent_p.T340T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3306					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGACTGAACGGTGTACCATC	0.458000														16			10		0	0	0.006214	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458758	45458758	+	RNA	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:45458758G>A	uc001rol.3	-	0		c.437C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CCTCTGTTGAGAAAAGCCAAA	0.433000														19			8		0	0	0.006214	0	0
RASGRP3	25780	broad.mit.edu	37	2	33783992	33783992	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:33783992G>A	uc002rox.3	+	17	2586	c.1959G>A	c.(1957-1959)tgG>tgA	p.W653*	RASGRP3_uc010ync.2_Nonsense_Mutation_p.W653*|RASGRP3_uc002roy.3_Nonsense_Mutation_p.W652*	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	653					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TTGCCAAATGGGAAAATGAGA	0.532000														31			19		0	0	0.006122	0	0
OR5K4	403278	broad.mit.edu	37	3	98073321	98073321	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:98073321C>T	uc011bgv.2	+	0	624	c.624C>T	c.(622-624)atC>atT	p.I208I		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I208I(2)|p.Q207E(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CAATTCAAATCTTTACCATTG	0.343000														16			15		0	0	0.004007	0	0
PTPN1	5770	broad.mit.edu	37	20	49195771	49195771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:49195771C>T	uc002xvl.3	+	6	943	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	PTPN1_uc010zys.2_Missense_Mutation_p.R184W	NM_002827	NP_002818	P18031	PTN1_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 1 (PTPN1), mRNA.	257	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	GAGGAAGTTTCGGATGGGGCT	0.512000														79			47		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256181	140256181	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140256181C>T	uc003lic.2	+	0	1251	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.S375L	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	390	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)			ATTAGCGTGTCGGATCGTGAC	0.512000														18			18		0	0	0.007413	0	0
ZNF404	342908	broad.mit.edu	37	19	44377618	44377618	+	Missense_Mutation	SNP	C	T	T	rs35756172		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:44377618C>T	uc002oxs.4	-	1	739	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	Homo sapiens zinc finger protein 404 (ZNF404), mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				CTAAACGTTTCCCCACATTCC	0.388000														35			19		0	0	0.007413	0	0
C1orf173	127254	broad.mit.edu	37	1	75101972	75101972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:75101972G>A	uc001dgg.3	-	5	814	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	C1orf173_uc001dgi.4_5'Flank	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	199										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACCCCAATGGGAAACAGAGCT	0.318000														42			29		0	0	0.005443	0	0
BIRC7	79444	broad.mit.edu	37	20	61870828	61870828	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:61870828G>A	uc002yej.3	+	5	941	c.768G>A	c.(766-768)ctG>ctA	p.L256L	BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.3_Silent_p.L238L	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN	Homo sapiens baculoviral IAP repeat containing 7 (BIRC7), transcript variant 1, mRNA.	256					DNA fragmentation involved in apoptotic nuclear change|activation of JUN kinase activity|anti-apoptosis	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					AGGTGTGCCTGGACCGCGCCG	0.697000														34			15		0	0	0.004007	0	0
ATM	472	broad.mit.edu	37	11	108139249	108139249	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:108139249C>T	uc001pkb.1	+	17	3136	c.2751C>T	c.(2749-2751)tcC>tcT	p.S917S	ATM_uc009yxr.1_Silent_p.S917S|ATM_uc009yxs.1_Non-coding_Transcript	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	917					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATACTGTGTCCTTTAGGGCAG	0.398000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				19			44		0	0	0.003610	0	0
COL13A1	1305	broad.mit.edu	37	10	71648064	71648064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:71648064C>T	uc001jql.3	+	7	1063	c.527C>T	c.(526-528)cCc>cTc	p.P176L	COL13A1_uc021prz.1_Missense_Mutation_p.P176L|COL13A1_uc021psa.1_Missense_Mutation_p.P138L|COL13A1_uc021psb.1_Missense_Mutation_p.P147L|COL13A1_uc001jqk.2_Missense_Mutation_p.P176L|COL13A1_uc021psc.1_Missense_Mutation_p.P176L|COL13A1_uc021psd.1_Missense_Mutation_p.P176L|COL13A1_uc010qjf.2_Missense_Mutation_p.P138L|COL13A1_uc021pse.1_Missense_Mutation_p.P147L|COL13A1_uc021psf.1_Missense_Mutation_p.P176L|COL13A1_uc021psg.1_Missense_Mutation_p.P176L|COL13A1_uc021psh.1_Missense_Mutation_p.P176L	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	176	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	TTTCAGGGTCCCATTGGGCTG	0.537000														11			7		0	0	0.003080	0	0
KIF9	64147	broad.mit.edu	37	3	47298994	47298994	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:47298994G>A	uc010hjp.3	-	10	1642	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	KIF9_uc003cqx.3_Silent_p.I346I|KIF9_uc003cqy.3_Silent_p.I346I|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	346					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ACTTTTCATTGATGGCAGGCT	0.507000														48			30		0	0	0.006999	0	0
UGT2B7	7364	broad.mit.edu	37	4	69972974	69972974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:69972974C>T	uc003heg.4	+	3	1130	c.1084C>T	c.(1084-1086)Ctt>Ttt	p.L362F	UGT2B7_uc010ihq.3_Missense_Mutation_p.L362F	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	362					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAGAATGACCTTCTAGGTAA	0.348000														47			23		0	0	0.003330	0	0
CR1	1378	broad.mit.edu	37	1	207789989	207789989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:207789989C>T	uc001hfy.3	+	32	5521	c.5381C>T	c.(5380-5382)cCc>cTc	p.P1794L	CR1_uc001hfx.3_Missense_Mutation_p.P2244L|CR1_uc021pij.1_Missense_Mutation_p.P1794L	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1794	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.T1793A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGAGATATTCCCTATGGAAAA	0.453000														43			31		0	0	0.002445	0	0
GPRIN3	285513	broad.mit.edu	37	4	90171112	90171112	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:90171112G>A	uc003hsm.1	-	1	669	c.150C>T	c.(148-150)gcC>gcT	p.A50A	GPRIN3_uc021xqb.1_Silent_p.A50A	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	50										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GTTCTGCAGGGGCACCTGAAA	0.567000														41			18		0	0	0.004990	0	0
CCDC92	80212	broad.mit.edu	37	12	124422110	124422110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:124422110G>A	uc001ufw.1	-	4	638	c.491C>T	c.(490-492)gCc>gTc	p.A164V	CCDC92_uc001ufv.1_Missense_Mutation_p.A147V|CCDC92_uc001ufx.1_Missense_Mutation_p.A164V	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	164										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CTTCTTGGCGGCGTGCAGCTG	0.647000														31			26		0	0	0.005443	0	0
PIM3	415116	broad.mit.edu	37	22	50356709	50356710	+	Silent	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:50356709_50356710CC>TT	uc003bjb.3	+	5	1368_1369	c.915_916CC>TT	c.(913-918)gacctg>gaTTtg	p.305_306DL>DL	PIM3_uc011arj.2_Silent_p.68_69DL>DL	NM_001001852	NP_001001852	Q86V86	PIM3_HUMAN	Homo sapiens pim-3 oncogene (PIM3), mRNA.	305					cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		AGAGCTGTGACCTGCGGCTGTG	0.683000														11			4		0	0	0.004672	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676996	37676996	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:37676996G>A	uc002ofq.3	-	4	1695	c.1443C>T	c.(1441-1443)ctC>ctT	p.L481L	ZNF585B_uc002ofr.1_Silent_p.L295L	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGTGTAATGAGATTTGACC	0.403000														53			24		0	0	0.002445	0	0
OLFM3	118427	broad.mit.edu	37	1	102312501	102312501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:102312501G>A	uc001duf.2	-	0	100	c.29C>T	c.(28-30)gCt>gTt	p.A10V	OLFM3_uc001dug.2_Intron|OLFM3_uc001duh.2_Intron|OLFM3_uc001dui.2_Intron|OLFM3_uc001duj.2_Intron|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	10						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ACTAAGCACAGCGCCAAGCTT	0.537000														33			18		0	0	0.007413	0	0
EPN2	22905	broad.mit.edu	37	17	19237303	19237303	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:19237303C>T	uc002gvd.4	+	10	2110	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	EPN2_uc002gve.4_Silent_p.F497F|EPN2_uc002gvf.4_Silent_p.F269F|EPN2_uc010vyo.2_Silent_p.F262F|EPN2_uc002gvh.1_Intron|EPN2_uc010vyp.2_Silent_p.F490F|EPN2_uc010vyq.2_Silent_p.F491F|EPN2_uc002gvj.3_Intron	NM_014964	NP_001096134	O95208	EPN2_HUMAN	Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA.	554	3 X 3 AA repeats of N-P-F.|6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TTAACCCTTTCCAGGTGAACC	0.652000														9			8		0	0	0.003080	0	0
RAB5B	5869	broad.mit.edu	37	12	56385937	56385937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:56385937C>T	uc001siv.3	+	5	769	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	RAB5B_uc001siw.3_Missense_Mutation_p.R197W|RAB5B_uc010spz.2_Missense_Mutation_p.R156W|RAB5B_uc009zog.3_Missense_Mutation_p.R137W	NM_001252036	NP_001238965	P61020	RAB5B_HUMAN	Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript variant 2, mRNA.	197					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	p.R197R(1)		endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			AGGCCGAAGCCGGGGTGTGGA	0.493000														50			18		0	0	0.002780	0	0
PRRC2A	7916	broad.mit.edu	37	6	31597008	31597009	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr6:31597008_31597009CC>TT	uc003nvb.4	+	12	2102_2103	c.1853_1854CC>TT	c.(1852-1854)ccc>cTT	p.P618L	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.P618L	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	618	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AAGGTGGAACCCAAGGGTGATG	0.579000														23			28		0	0	0.004672	0	0
DNAH7	56171	broad.mit.edu	37	2	196834767	196834767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:196834767C>T	uc002utj.4	-	16	2211	c.2110G>A	c.(2110-2112)Gaa>Aaa	p.E704K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	704	Stem (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						TAAAATTCTTCTGATTGCTTA	0.343000														48			16		0	0	0.004990	0	0
PVRL3	25945	broad.mit.edu	37	3	110852704	110852704	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:110852704G>C	uc003dxt.2	+	5	1551	c.1292G>C	c.(1291-1293)aGa>aCa	p.R431T	PVRL3_uc003dxu.2_Intron|PVRL3_uc021xch.1_3'UTR	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	Homo sapiens poliovirus receptor-related 3 (PVRL3), transcript variant 1, mRNA.	431					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TATAGGAGAAGACGGACGTTT	0.413000														58			37		0	0	0.003755	0	0
HPR	3250	broad.mit.edu	37	16	72110725	72110725	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:72110725G>A	uc002fby.3	+	4	822	c.792G>A	c.(790-792)aaG>aaA	p.K264K	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	264	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CCAAATGGAAGGCACCGAAGA	0.507000														48			10		0	0	0.006214	0	0
STK32C	282974	broad.mit.edu	37	10	134021640	134021640	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:134021640C>T	uc010quu.1	-	11	1490	c.1374G>A	c.(1372-1374)caG>caA	p.Q458Q	STK32C_uc001lld.1_Silent_p.Q328Q|STK32C_uc001lle.1_Silent_p.Q445Q|STK32C_uc001llb.2_Silent_p.Q216Q|STK32C_uc001llc.1_Non-coding_Transcript	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	Homo sapiens serine/threonine kinase 32C (STK32C), mRNA.	445							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TCGGGAGGTCCTGGCTCCTCT	0.701000														20			12		0	0	0.002450	0	0
GPR98	84059	broad.mit.edu	37	5	89953728	89953728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:89953728G>A	uc003kju.3	+	20	4481	c.4385G>A	c.(4384-4386)gGg>gAg	p.G1462E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1462					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)		TCAGGTCCTGGGATACTGAGA	0.393000														19			14		0	0	0.003163	0	0
SPTA1	6708	broad.mit.edu	37	1	158612669	158612669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:158612669C>T	uc001fst.1	-	31	4739	c.4540G>A	c.(4540-4542)Gaa>Aaa	p.E1514K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1514					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)					CTGATCCATTCTTCCAGCTCC	0.453000														75			38		0	0	0.002522	0	0
BCL2L11	10018	broad.mit.edu	37	2	111881509	111881509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:111881509C>T	uc002tgv.1	+	1	475	c.187C>T	c.(187-189)Ccg>Tcg	p.P63S	BCL2L11_uc002tgt.1_Intron|BCL2L11_uc021vmo.1_Intron|BCL2L11_uc002tgu.1_Intron|BCL2L11_uc002tgy.2_Intron|BCL2L11_uc002thb.2_Intron|BCL2L11_uc002tgx.2_Intron|BCL2L11_uc021vmp.1_Missense_Mutation_p.P63S|BCL2L11_uc010fkd.2_Intron|BCL2L11_uc002tgz.2_Intron|BCL2L11_uc002thd.2_Intron|BCL2L11_uc002tha.2_Missense_Mutation_p.P63S|BCL2L11_uc010fke.2_Intron|BCL2L11_uc021vmq.1_Missense_Mutation_p.P63S|BCL2L11_uc002thc.2_Intron|BCL2L11_uc021vmr.1_Missense_Mutation_p.P63S|BCL2L11_uc002tgw.2_Intron|BCL2L11_uc021vms.1_Missense_Mutation_p.P63S	NM_138621	NP_619527	O43521	B2L11_HUMAN	Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 1, mRNA.	63					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding	p.P63P(1)		endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						CCCTCAGGGCCCGCTGGCCCC	0.612000														23			11		0	0	0.000673	0	0
IPW	3653	broad.mit.edu	37	15	25430721	25430721	+	Splice_Site	SNP	G	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:25430721G>T	uc001yyy.1	+	6		c.615_splice	c.e6+1		IPW_uc001yza.1_Splice_Site|SNORD115-9_uc001yzc.1_5'Flank|SNORD115-10_uc001yzd.1_5'Flank					Homo sapiens clone Rt-7 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.																		ACTGAGGTGTGGTGAGTCCAT	0.582000														46			34		9.65021e-13	1.20714e-12	0.002096	1	0
ODZ3	55714	broad.mit.edu	37	4	183694726	183694726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:183694726C>T	uc003ivd.1	+	21	5069	c.4994C>T	c.(4993-4995)tCa>tTa	p.S1665L		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1665					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GACATTGAGTCATCTAGCCGA	0.438000														64			27		0	0	0.006320	0	0
CGNL1	84952	broad.mit.edu	37	15	57838369	57838369	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:57838369G>A	uc010bfw.3	+	18	3898	c.3705G>A	c.(3703-3705)gaG>gaA	p.E1235E	CGNL1_uc002aeg.3_Silent_p.E1235E|CGNL1_uc021smw.1_5'Flank	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	1235						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGCAGAGGGAGCTGGAGGAGC	0.557000														4			6		0	0	0.001168	0	0
CHST12	55501	broad.mit.edu	37	7	2472882	2472882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:2472882C>T	uc003smc.3	+	1	771	c.608C>T	c.(607-609)cCg>cTg	p.P203L	CHST12_uc003smd.3_Missense_Mutation_p.P203L|CHST12_uc021zyu.1_Missense_Mutation_p.P203L|CHST12_uc021zyv.1_Missense_Mutation_p.P203L	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	203					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	p.P203P(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CTGCGCATCCCGCGCGAGCAC	0.662000														10			11		0	0	0.000673	0	0
DYRK3	8444	broad.mit.edu	37	1	206822100	206822100	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:206822100C>T	uc001hej.3	+	2	1725	c.1557C>T	c.(1555-1557)caC>caT	p.H519H	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Silent_p.H499H	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	519	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CATTAAGACACCCTTGGATTA	0.498000														27			17		0	0	0.007413	0	0
MYO7A	4647	broad.mit.edu	37	11	76870559	76870559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:76870559C>T	uc001oyb.2	+	9	1342	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F	MYO7A_uc010rsl.2_Missense_Mutation_p.S357F|MYO7A_uc010rsm.1_Missense_Mutation_p.S346F|MYO7A_uc001oyc.2_Missense_Mutation_p.S357F	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	357	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.S357S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACAGCTGCATCCCTGCTTGAG	0.572000														36			27		0	0	0.001786	0	0
SPATA20	64847	broad.mit.edu	37	17	48631790	48631791	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:48631790_48631791CC>TT	uc002ird.3	+	14	2277_2278	c.2136_2137CC>TT	c.(2134-2139)gcccag>gcTTag	p.Q713*	SPATA20_uc002irc.3_Nonsense_Mutation_p.Q364*|SPATA20_uc002ire.3_Nonsense_Mutation_p.Q653*|SPATA20_uc002irf.3_Nonsense_Mutation_p.Q697*|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	697					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCCTCTCAGCCCAGCAGCAGAC	0.649000														77			21		0	0	0.004672	0	0
FLG	2312	broad.mit.edu	37	1	152281609	152281609	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:152281609A>G	uc001ezu.1	-	2	5789	c.5753T>C	c.(5752-5754)gTt>gCt	p.V1918A		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1918	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGGCTAACACTGGATCC	0.567000									Ichthyosis					125			55		0	0	0.003610	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140793642	140793642	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:140793642A>T	uc003lkl.2	+	0	900	c.900A>T	c.(898-900)aaA>aaT	p.K300N	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_uc011day.2_Missense_Mutation_p.K300N	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	297	Cadherin 3.				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)			AACTAAACAAATATACTGGAG	0.378000														4			5		0	0	0.000602	0	0
ANK3	288	broad.mit.edu	37	10	61834949	61834949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:61834949G>A	uc001jky.3	-	36	6028	c.5690C>T	c.(5689-5691)tCc>tTc	p.S1897F	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.	1897	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.S1896C(1)		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						CTCCTGACTGGAAGATAAAGA	0.448000														32			29		0	0	0.007291	0	0
RASSF4	83937	broad.mit.edu	37	10	45467187	45467187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:45467187C>T	uc001jbp.3	+	1	1671	c.122C>T	c.(121-123)aCc>aTc	p.T41I	RASSF4_uc001jbo.3_Intron|RASSF4_uc009xmn.3_Intron|RASSF4_uc001jbq.3_Intron			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	0					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCCTGCCACACCCTAGGAGTA	0.542000														30			18		0	0	0.002299	0	0
RYR1	6261	broad.mit.edu	37	19	39023320	39023320	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:39023320C>T	uc002oit.3	+	77	11333	c.11203C>T	c.(11203-11205)Ctg>Ttg	p.L3735L	RYR1_uc002oiu.3_Silent_p.L3730L|RYR1_uc002oiv.1_Silent_p.L650L|RYR1_uc010xuf.1_Silent_p.L655L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3735					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGCTGCCACCTGGAGGAGGG	0.617000														29			7		0	0	0.001984	0	0
TIGIT	201633	broad.mit.edu	37	3	114026783	114026783	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:114026783G>A	uc003ebg.2	+	3	1295	c.540G>A	c.(538-540)agG>agA	p.R180R		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA.	180					negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GTGACCTCAGGAGAAAATCAG	0.512000														36			21		0	0	0.001882	0	0
ACVRL1	94	broad.mit.edu	37	12	52312851	52312851	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:52312851T>A	uc001rzj.3	+	8	1612	c.1329T>A	c.(1327-1329)tgT>tgA	p.C443*	ACVRL1_uc001rzk.3_Nonsense_Mutation_p.C443*|ACVRL1_uc010snm.2_Nonsense_Mutation_p.C269*	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	443	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	AGGTGGTGTGTGTGGATCAGC	0.587000														28			27		0	0	0.003954	0	0
MYT1	4661	broad.mit.edu	37	20	62839626	62839626	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:62839626G>A	uc002yii.3	+	6	1441	c.1077G>A	c.(1075-1077)cgG>cgA	p.R359R	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	359					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R359W(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCCACTCCCGGAAGTCAACAG	0.602000														30			20		0	0	0.001216	0	0
CAMK2G	818	broad.mit.edu	37	10	75607101	75607101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:75607101G>A	uc001jvv.2	-	9	807	c.677C>T	c.(676-678)cCa>cTa	p.P226L	CAMK2G_uc001jvs.2_Missense_Mutation_p.P234L|CAMK2G_uc001jvm.2_Missense_Mutation_p.P234L|CAMK2G_uc001jvo.2_Missense_Mutation_p.P234L|CAMK2G_uc001jvp.2_Missense_Mutation_p.P234L|CAMK2G_uc001jvq.2_Missense_Mutation_p.P234L|CAMK2G_uc001jvr.2_Missense_Mutation_p.P234L|CAMK2G_uc001jvt.2_Non-coding_Transcript|CAMK2G_uc010qkv.2_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 1, mRNA.	234	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					TTCTGGTGATGGGAACTAAGG	0.488000														33			14		0	0	0.002450	0	0
SPATA18	132671	broad.mit.edu	37	4	52946055	52946055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:52946055G>A	uc003gzl.3	+	8	1603	c.1325G>A	c.(1324-1326)gGa>gAa	p.G442E	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.G410E|SPATA18_uc003gzk.1_Missense_Mutation_p.G442E	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	442					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATTGCATATGGAGCAGATGGA	0.418000														88			48		0	0	0.003610	0	0
WDR48	57599	broad.mit.edu	37	3	39136169	39136169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:39136169G>A	uc003cit.3	+	18	1979	c.1969G>A	c.(1969-1971)Gtg>Atg	p.V657M	WDR48_uc011ayt.1_Missense_Mutation_p.V648M|WDR48_uc011ayu.1_Missense_Mutation_p.V575M|WDR48_uc011ayv.1_Missense_Mutation_p.V382M|WDR48_uc003ciu.3_Non-coding_Transcript	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	Homo sapiens WD repeat domain 48 (WDR48), mRNA.	657					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCTTCGAACAGTGAAACACTT	0.398000														55			30		0	0	0.002836	0	0
MUC16	94025	broad.mit.edu	37	19	9090179	9090179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:9090179C>T	uc002mkp.3	-	0	1840	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	546	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						GGGGGTCTCTCTGTTTTCATG	0.527000														22			13		0	0	0.001855	0	0
ABCA8	10351	broad.mit.edu	37	17	66925719	66925719	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:66925719G>A	uc002jhq.3	-	7	1262	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	ABCA8_uc002jhp.3_Silent_p.L308L|ABCA8_uc010wqq.2_Silent_p.L308L|ABCA8_uc010wqr.2_Silent_p.L247L|ABCA8_uc002jhr.3_Silent_p.L308L	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	308						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AATCCATACAGGAGAAAGAGG	0.378000														63			21		0	0	0.002299	0	0
ZBTB3	79842	broad.mit.edu	37	11	62520256	62520257	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:62520256_62520257GG>AA	uc001nuz.3	-	1	1152_1153	c.1030_1031CC>TT	c.(1030-1032)cca>TTa	p.P344L		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	Homo sapiens zinc finger and BTB domain containing 3 (ZBTB3), mRNA.	344	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						Agctggggctggagcctgggat	0.569000														29			17		0	0	0.004672	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111795735	111795735	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:111795735C>T	uc010hqb.2	+	13	1760	c.1590C>T	c.(1588-1590)ccC>ccT	p.P530P	TMPRSS7_uc011bhr.1_Silent_p.P385P	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	656	LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGTCAGATCCCACACCATGGA	0.453000														68			32		0	0	0.006230	0	0
ZNF221	7638	broad.mit.edu	37	19	44471349	44471349	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:44471349G>A	uc002oxx.2	+	5	2023	c.1695G>A	c.(1693-1695)aaG>aaA	p.K565K	ZNF221_uc010ejb.1_Silent_p.K565K|ZNF221_uc010xws.1_Silent_p.K565K	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ATAATTGTAAGGAATGTGGAA	0.453000														36			19		0	0	0.002299	0	0
SYBU	55638	broad.mit.edu	37	8	110598373	110598373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:110598373C>T	uc010mcp.3	-	4	808	c.446G>A	c.(445-447)aGc>aAc	p.S149N	SYBU_uc003yni.4_Missense_Mutation_p.S146N|SYBU_uc003ynk.4_Missense_Mutation_p.S30N|SYBU_uc003ynj.4_Missense_Mutation_p.S149N|SYBU_uc010mco.3_Missense_Mutation_p.S148N|SYBU_uc003ynl.4_Missense_Mutation_p.S148N|SYBU_uc010mcq.3_Missense_Mutation_p.S149N|SYBU_uc003yno.4_Missense_Mutation_p.S30N|SYBU_uc010mcr.3_Missense_Mutation_p.S149N|SYBU_uc003ynm.4_Missense_Mutation_p.S148N|SYBU_uc003ynn.4_Missense_Mutation_p.S148N|SYBU_uc010mcs.3_Missense_Mutation_p.S30N|SYBU_uc010mct.3_Missense_Mutation_p.S149N|SYBU_uc010mcu.3_Missense_Mutation_p.S148N|SYBU_uc003ynp.4_Missense_Mutation_p.S81N|SYBU_uc010mcv.3_Missense_Mutation_p.S149N|SYBU_uc011lhw.2_Missense_Mutation_p.S19N	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	149	Ser-rich.|Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GCTCGAGGAGCTAAAATCAGC	0.532000														7			9		0	0	0.006214	0	0
ACTC1	70	broad.mit.edu	37	15	35087030	35087030	+	Splice_Site	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:35087030T>C	uc001ziu.1	-	2	222	c.-21_splice	c.e2-1		AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.						apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CTTCAGGGGGTTCTGCAGGTT	0.647000														52			34		0	0	0.006230	0	0
R3HDML	140902	broad.mit.edu	37	20	42969931	42969931	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:42969931G>A	uc002xls.1	+	1	529	c.357G>A	c.(355-357)caG>caA	p.Q119Q		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	Homo sapiens R3H domain containing-like (R3HDML), mRNA.	119						extracellular region	peptidase inhibitor activity	p.G118R(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			ACGTGGGCCAGAACCTCTCCA	0.572000														32			13		0	0	0.006122	0	0
PTPLAD1	51495	broad.mit.edu	37	15	65862521	65862521	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:65862521G>A	uc002apc.3	+	7	896	c.753G>A	c.(751-753)tgG>tgA	p.W251*	PTPLAD1_uc010uiw.2_Nonsense_Mutation_p.W196*	NM_016395	NP_057479	Q9P035	HACD3_HUMAN	Homo sapiens protein tyrosine phosphatase-like A domain containing 1 (PTPLAD1), mRNA.	251					I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction|activation of JUN kinase activity|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TTTATTTGTGGAGTGCAATTG	0.383000														36			16		0	0	0.007413	0	0
UBASH3A	53347	broad.mit.edu	37	21	43864686	43864686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr21:43864686C>T	uc002zbe.3	+	13	1865	c.1781C>T	c.(1780-1782)tCc>tTc	p.S594F	UBASH3A_uc002zbf.3_Missense_Mutation_p.S556F|UBASH3A_uc010gpe.3_Intron|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	594	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACTCTGGACTCCTGCACGCGG	0.577000														120			37		0	0	0.006999	0	0
ARGFX	503582	broad.mit.edu	37	3	121304943	121304943	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:121304943C>T	uc003eef.3	+	4	539	c.444C>T	c.(442-444)atC>atT	p.I148I		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	148						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GAAACCAGATCCTTCCATCCA	0.502000														27			13		0	0	0.001855	0	0
CACNA1E	777	broad.mit.edu	37	1	181741226	181741226	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:181741226G>A	uc009wxt.3	+	36	5193	c.4998G>A	c.(4996-4998)caG>caA	p.Q1666Q	CACNA1E_uc001gow.3_Silent_p.Q1666Q|CACNA1E_uc009wxs.3_Silent_p.Q1647Q|CACNA1E_uc001gox.1_Silent_p.Q892Q	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1666					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						AGGCCTGGCAGGAGATTATGC	0.557000														26			14		0	0	0.001855	0	0
COL6A6	131873	broad.mit.edu	37	3	130284201	130284201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:130284201G>A	uc010htl.3	+	2	1056	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	342	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTGACCCACCGAGATTCAGAA	0.562000														78			29		0	0	0.002836	0	0
CCIN	881	broad.mit.edu	37	9	36170445	36170445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:36170445C>T	uc003zzb.4	+	0	1057	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	316					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)			CATGCCCTATCGGGCAGCAGC	0.547000														10			18		0	0	0.004990	0	0
IL36B	27177	broad.mit.edu	37	2	113783693	113783693	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:113783693C>T	uc002tiq.1	-	4	482	c.378G>A	c.(376-378)tgG>tgA	p.W126*		NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	126					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						ctcctattccccattggtcaa	0.473000														14			6		0	0	0.001168	0	0
CHD7	55636	broad.mit.edu	37	8	61735300	61735300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:61735300C>T	uc003xue.3	+	11	3688	c.3196C>T	c.(3196-3198)Ccc>Tcc	p.P1066S	CHD7_uc022aux.1_Intron|CHD7_uc003xuf.3_Missense_Mutation_p.P179S	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1066	Helicase ATP-binding.				T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTTCAAAGATCCCCAGGTAAA	0.403000														98			62		0	0	0.003610	0	0
MGA	23269	broad.mit.edu	37	15	42059094	42059094	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:42059094C>T	uc010ucy.2	+	23	8995	c.8814C>T	c.(8812-8814)ctC>ctT	p.L2938L	MGA_uc010ucz.2_Silent_p.L2729L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2899						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGGATTCCCTCCTTTCCAACA	0.458000														32			13		0	0	0.002450	0	0
MARCH10	162333	broad.mit.edu	37	17	60779114	60779114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:60779114C>T	uc010dds.3	-	11	2776	c.2491G>A	c.(2491-2493)Gag>Aag	p.E831K	MARCH10_uc010ddr.3_Missense_Mutation_p.E793K|MARCH10_uc002jag.4_Missense_Mutation_p.E793K	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	793							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TCTCCCAACTCCGAATCTGGA	0.587000														70			26		0	0	0.001786	0	0
FBN3	84467	broad.mit.edu	37	19	8175966	8175966	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:8175966T>G	uc002mjf.3	-	31	4203	c.4186A>C	c.(4186-4188)Acc>Ccc	p.T1396P		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1396	EGF-like 21; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGGTCCTCGGTGGGGTCAAAG	0.657000														7			5		0	0	0.000602	0	0
MYH15	22989	broad.mit.edu	37	3	108224661	108224661	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:108224661C>T	uc003dxa.1	-	2	221	c.164G>A	c.(163-165)tGg>tAg	p.W55*		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	55	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATCAGGAATCCAGCATTTCTT	0.363000														46			22		0	0	0.003954	0	0
STK36	27148	broad.mit.edu	37	2	219538446	219538446	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:219538446C>T	uc002viu.3	+	2	462	c.183C>T	c.(181-183)ccC>ccT	p.P61P	STK36_uc002viv.3_Silent_p.P61P|RNF25_uc002vit.3_5'Flank|RNF25_uc010fvw.3_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	61	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TGCGGCATCCCAACATTGTGC	0.498000														19			15		0	0	0.004007	0	0
SEMA3F	6405	broad.mit.edu	37	3	50224101	50224101	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:50224101C>T	uc003cyj.3	+	17	2067	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F	SEMA3F_uc003cyk.3_Silent_p.F592F	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	623	Ig-like C2-type.				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)		GCGCAGCCTTCCTTGAGTGCC	0.627000														17			5		0	0	0.000602	0	0
CCDC122	160857	broad.mit.edu	37	13	44433893	44433893	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:44433893T>C	uc010tfn.1	-	3	669	c.470A>G	c.(469-471)gAt>gGt	p.D157G	CCDC122_uc010acf.3_Missense_Mutation_p.D157G	NM_144974	NP_659411	Q5T0U0	CC122_HUMAN	Homo sapiens coiled-coil domain containing 122 (CCDC122), mRNA.	157										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		TTTAACAAAATCTCGCTTTTC	0.318000														41			27		0	0	0.006320	0	0
DZANK1	55184	broad.mit.edu	37	20	18396034	18396034	+	Silent	SNP	G	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:18396034G>T	uc010zsa.2	-	10	1280	c.1071C>A	c.(1069-1071)tcC>tcA	p.S357S	DZANK1_uc010zrz.2_5'Flank|DZANK1_uc002wqp.4_Intron|DZANK1_uc002wqr.4_Non-coding_Transcript|DZANK1_uc002wqs.4_Silent_p.S224S|DZANK1_uc002wqq.4_Silent_p.S338S|DZANK1_uc002wqu.1_Non-coding_Transcript|DZANK1_uc010gct.1_Non-coding_Transcript	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	Homo sapiens double zinc ribbon and ankyrin repeat domains 1 (DZANK1), mRNA.	165						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						ATCTGTAGCAGGAAATGGTCC	0.512000														26			16		8.28177e-16	1.04044e-15	0.007413	1	0
LRRC66	339977	broad.mit.edu	37	4	52860601	52860601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:52860601G>A	uc003gzi.3	-	3	2594	c.2587C>T	c.(2587-2589)Ccc>Tcc	p.P863S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	863						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGATCTGAGGGAACTTCAGCA	0.378000														22			20		0	0	0.002299	0	0
NTRK3	4916	broad.mit.edu	37	15	88423632	88423632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:88423632G>A	uc002bme.2	-	18	2509	c.2203C>T	c.(2203-2205)Cgc>Tgc	p.R735C	NTRK3_uc002bmh.2_Missense_Mutation_p.R713C|NTRK3_uc002bmf.2_Missense_Mutation_p.R721C|NTRK3_uc021sua.1_Missense_Mutation_p.R713C	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	735	Protein kinase.		R -> F (in a lung large cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions).		transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R721F(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCATCCAGCGAATGGGGAGC	0.507000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				14			9		0	0	0.004482	0	0
ITGAV	3685	broad.mit.edu	37	2	187511431	187511431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:187511431C>T	uc002upq.3	+	12	1454	c.1178C>T	c.(1177-1179)cCa>cTa	p.P393L	ITGAV_uc010frs.3_Missense_Mutation_p.P357L|ITGAV_uc010zfv.2_Missense_Mutation_p.P347L	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	393					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ATTGCTGCTCCATATGGGGGT	0.443000														17			12		0	0	0.001855	0	0
LOC729020	729020	broad.mit.edu	37	10	105006395	105006395	+	Silent	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:105006395A>G	uc009xxi.2	+	0	752	c.642A>G	c.(640-642)agA>agG	p.R214R	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	214					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										ACCTATTAAGAAATATTTGCT	0.423000														11			6		0	0	0.001984	0	0
IMPG2	50939	broad.mit.edu	37	3	100961713	100961713	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:100961713C>T	uc003duq.2	-	13	3044	c.2841G>A	c.(2839-2841)caG>caA	p.Q947Q	IMPG2_uc011bhe.2_Silent_p.Q810Q	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	947	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTCTAAGTTCTGGAACCCCG	0.423000														26			12		0	0	0.001855	0	0
HBG1	3047	broad.mit.edu	37	11	5275658	5275658	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:5275658T>G	uc001mai.1	-	1	616	c.179A>C	c.(178-180)aAa>aCa	p.K60T	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.K60T	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	60					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTTGACTTTGGGGTTGCC	0.537000														52			18		0	0	0.001786	0	0
GAS6	2621	broad.mit.edu	37	13	114530088	114530089	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr13:114530088_114530089CC>TT	uc001vug.3	-	3	1512_1513	c.460_461GG>AA	c.(460-462)gga>AAa	p.G154K	GAS6_uc001vud.3_Missense_Mutation_p.G453K|GAS6_uc001vuf.3_Missense_Mutation_p.G180K	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	496	EGF-like 1; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGTGTCTTCTCCGTTCAGCCAG	0.579000														22			22		0	0	0.004672	0	0
CRB1	23418	broad.mit.edu	37	1	197390611	197390611	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:197390611G>A	uc001gtz.3	+	5	1862	c.1653G>A	c.(1651-1653)caG>caA	p.Q551Q	CRB1_uc010poz.2_Silent_p.Q482Q|CRB1_uc009wza.3_Silent_p.Q439Q|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.Q551Q|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.Q32Q|CRB1_uc001gub.1_Silent_p.Q200Q	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	551	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			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						TCAATAATCAGTCAAAGGTGC	0.458000														63			29		0	0	0.001786	0	0
PTH1R	5745	broad.mit.edu	37	3	46935487	46935487	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:46935487C>T	uc003cqm.3	+	3	369	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	PTH1R_uc021wxg.1_Silent_p.L56L	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	56						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						CAAGGAGGTCCTGCAGAGGCC	0.602000														19			8		0	0	0.006214	0	0
CHD2	1106	broad.mit.edu	37	15	93543789	93543789	+	Silent	SNP	G	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:93543789G>T	uc002bsp.3	+	31	4631	c.4056G>T	c.(4054-4056)gtG>gtT	p.V1352V	CHD2_uc002bso.1_Silent_p.V1352V	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1352					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAACAAAGTGCCCAGGCTGA	0.423000														28			18		2.48551e-13	3.11581e-13	0.004990	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144864142	144864142	+	Missense_Mutation	SNP	C	T	T	rs139404785		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:144864142C>T	uc021ouh.1	-	35	6255	c.5953G>A	c.(5953-5955)Gac>Aac	p.D1985N	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.D1985N|PDE4DIP_uc001elx.4_Missense_Mutation_p.D1879N|PDE4DIP_uc001elv.4_Missense_Mutation_p.D992N|PDE4DIP_uc001ema.3_Missense_Mutation_p.D172N	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1985					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TACCTGGAGTCGTTTTCCTGG	0.468000			T	PDGFRB	MPD									524			64		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179453660	179453660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:179453660C>T	uc021vsy.1	-	252	55313	c.55088G>A	c.(55087-55089)gGa>gAa	p.G18363E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G12058E|TTN_uc021vta.1_Missense_Mutation_p.G11991E|TTN_uc021vtb.1_Missense_Mutation_p.G11866E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19290	Fibronectin type-III 33.						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)			ATATTCATTTCCTTCTATGAG	0.378000														12			6		0	0	0.001168	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555424	155555424	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:155555424T>C	uc002tyv.1	+	0	332	c.137T>C	c.(136-138)tTc>tCc	p.F46S	KCNJ3_uc010zce.1_Missense_Mutation_p.F46S|KCNJ3_uc021vrh.1_Missense_Mutation_p.F46S	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	46					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CGGCAGCGGTTCGTGGACAAG	0.642000														26			10		0	0	0.000978	0	0
ZNF831	128611	broad.mit.edu	37	20	57828080	57828080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:57828080C>T	uc002yan.3	+	3	4075	c.4075C>T	c.(4075-4077)Cct>Tct	p.P1359S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1359						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)					AGAATCACCTCCTTGTTGTGG	0.448000														22			13		0	0	0.001368	0	0
DUXA	503835	broad.mit.edu	37	19	57670564	57670564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:57670564C>T	uc002qoa.1	-	2	308	c.263G>A	c.(262-264)gGg>gAg	p.G88E		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	88						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TTGATCTTGCCCCTGGCTCTG	0.458000														41			25		0	0	0.001786	0	0
FAM115A	9747	broad.mit.edu	37	7	143573477	143573478	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:143573477_143573478GG>AA	uc003wdo.2	-	1	357_358	c.224_225CC>TT	c.(223-225)ccc>cTT	p.P75L	FAM115A_uc011ktu.2_Intron|FAM115A_uc003wdp.2_Missense_Mutation_p.P75L	NM_014719	NP_001193870	Q9Y4C2	F115A_HUMAN	Homo sapiens family with sequence similarity 115, member A (FAM115A), transcript variant 1, mRNA.	75										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					TCAGGAGAAAGGGCGTGAGCTG	0.609000														17			7		0	0	0.004672	0	0
CFH	3075	broad.mit.edu	37	1	196883701	196883701	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:196883701G>A	uc001gtp.3	+	7	1394	c.1257G>A	c.(1255-1257)ttG>ttA	p.L419L	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Silent_p.L418L|CFH_uc001gto.3_Silent_p.L172L	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	777	Sushi 7.				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						ATGACACATTGGACTACGAAT	0.398000														24			17		0	0	0.001216	0	0
COBLL1	22837	broad.mit.edu	37	2	165551322	165551322	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:165551322G>A	uc002ucp.3	-	11	2916	c.2694C>T	c.(2692-2694)gcC>gcT	p.A898A	COBLL1_uc002ucq.3_Silent_p.A860A|COBLL1_uc010zcw.2_Silent_p.A965A|COBLL1_uc010zcx.2_Silent_p.A906A|COBLL1_uc002ucn.3_Silent_p.A326A|COBLL1_uc002uco.3_Silent_p.A629A	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	936										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GTTTGGCCTGGGCATTTGAAG	0.433000														26			18		0	0	0.006122	0	0
STAB1	23166	broad.mit.edu	37	3	52539146	52539146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:52539146C>T	uc003dej.3	+	12	1579	c.1505C>T	c.(1504-1506)cCt>cTt	p.P502L	STAB1_uc003dei.1_Missense_Mutation_p.P502L	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	502					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTGGGACCCCTGGGGATCCC	0.622000														52			19		0	0	0.001882	0	0
ARMCX1	51309	broad.mit.edu	37	X	100808374	100808374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:100808374C>T	uc022cak.1	+	0	461	c.461C>T	c.(460-462)cCc>cTc	p.P154L	ARMCX1_uc004ehv.3_Missense_Mutation_p.P154L|ARMCX1_uc004ehw.3_Missense_Mutation_p.P154L	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA.	154						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GGCTGCCACCCCACCAGGAGT	0.622000														9			23		0	0	0.003954	0	0
KDM4D	55693	broad.mit.edu	37	11	94731693	94731693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:94731693C>T	uc021qow.1	+	0	1157	c.1157C>T	c.(1156-1158)cCt>cTt	p.P386L	KDM4D_uc001pfe.3_Missense_Mutation_p.P386L	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	386					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CGGCATTCCCCTTGGCCTATG	0.642000														11			6		0	0	0.001984	0	0
FLNC	2318	broad.mit.edu	37	7	128490508	128490508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:128490508C>T	uc003vnz.4	+	31	5578	c.5369C>T	c.(5368-5370)cCc>cTc	p.P1790L	FLNC_uc003voa.4_Missense_Mutation_p.P1757L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1790					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGGTCATCCCCTTCGCGGTG	0.612000														58			41		0	0	0.002852	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190432	50190433	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:50190432_50190433GG>AA	uc009zlk.2	-	7	1412_1413	c.1210_1211CC>TT	c.(1210-1212)ccc>TTc	p.P404F	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	400	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCTAAGGAAGGGGAGGGGCCCC	0.629000														19			4		0	0	0.004672	0	0
NARG2	79664	broad.mit.edu	37	15	60758807	60758807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:60758807G>A	uc002agp.3	-	4	749	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	NARG2_uc002ago.3_Missense_Mutation_p.R35C|NARG2_uc010bgk.3_Missense_Mutation_p.R172C|NARG2_uc002agr.1_Missense_Mutation_p.R172C	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	172						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						GTGAAGAGACGGGCATCATCA	0.368000														35			18		0	0	0.001882	0	0
ZIK1	284307	broad.mit.edu	37	19	58102464	58102464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:58102464C>T	uc002qpg.3	+	3	1382	c.1285C>T	c.(1285-1287)Cat>Tat	p.H429Y	ZIK1_uc002qph.3_Missense_Mutation_p.H374Y|ZIK1_uc002qpi.3_Missense_Mutation_p.H416Y|ZIK1_uc002qpj.3_Missense_Mutation_p.H326Y	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	Homo sapiens zinc finger protein interacting with K protein 1 homolog (mouse) (ZIK1), mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCGGAGAATTCATACTGGAGC	0.463000														18			4		0	0	0.000248	0	0
AOAH	313	broad.mit.edu	37	7	36657942	36657942	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:36657942G>A	uc022abu.1	-	9	1113	c.712C>T	c.(712-714)Cca>Tca	p.P238S	AOAH_uc003tfh.4_Missense_Mutation_p.P238S|AOAH_uc011kba.2_Missense_Mutation_p.P206S	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	238					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CCATCTTTTGGATCGACACCC	0.318000														26			17		0	0	0.001216	0	0
RP1L1	94137	broad.mit.edu	37	8	10467030	10467030	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr8:10467030C>T	uc003wtc.3	-	3	4807	c.4578G>A	c.(4576-4578)acG>acA	p.T1526T		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1526					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)		AGGCCTTCTCCGTCTTCTTCA	0.662000														9			12		0	0	0.003163	0	0
ABCC2	1244	broad.mit.edu	37	10	101578582	101578582	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:101578582C>T	uc001kqf.2	+	17	2446	c.2307C>T	c.(2305-2307)atC>atT	p.I769I		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	769	ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGCAGCGGATCAGCCTGGCCA	0.413000														29			14		0	0	0.004007	0	0
ADAM22	53616	broad.mit.edu	37	7	87759715	87759715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:87759715C>T	uc003ujn.3	+	9	981	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	ADAM22_uc003ujj.2_Missense_Mutation_p.R256W|ADAM22_uc003ujk.2_Missense_Mutation_p.R256W|ADAM22_uc003ujl.2_Missense_Mutation_p.R256W|ADAM22_uc003ujm.3_Missense_Mutation_p.R256W|ADAM22_uc003ujo.3_Missense_Mutation_p.R256W|ADAM22_uc003ujp.1_Missense_Mutation_p.R308W	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	256	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	p.H255H(1)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TAAAAAACATCGGCTTTCCGT	0.368000														31			20		0	0	0.001882	0	0
COL1A1	1277	broad.mit.edu	37	17	48266782	48266782	+	Missense_Mutation	SNP	C	T	T	rs72653155		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:48266782C>T	uc002iqm.3	-	38	2911	c.2785G>A	c.(2785-2787)Ggc>Agc	p.G929S		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	929	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CCAGCAGGGCCAGGGGGACCA	0.647000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							60			12		0	0	0.001855	0	0
TTLL5	23093	broad.mit.edu	37	14	76149932	76149932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:76149932G>A	uc010ask.2	+	4	579	c.304G>A	c.(304-306)Gga>Aga	p.G102R	TTLL5_uc001xrw.2_Missense_Mutation_p.G102R|TTLL5_uc001xrx.3_Missense_Mutation_p.G102R|TTLL5_uc001xrv.3_Missense_Mutation_p.G102R	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	102	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AATGTGGACAGGATCCCACCT	0.458000														22			25		0	0	0.007291	0	0
LELP1	149018	broad.mit.edu	37	1	153177279	153177279	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:153177279G>A	uc001fbl.3	+	1	206	c.96G>A	c.(94-96)caG>caA	p.Q32Q	LELP1_uc021ozv.1_Silent_p.Q32Q	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	32	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAATGCCAGCCCAGCTGTT	0.498000														38			24		0	0	0.003330	0	0
CD1B	910	broad.mit.edu	37	1	158299295	158299295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:158299295C>T	uc001frx.3	-	3	859	c.751G>A	c.(751-753)Ggg>Agg	p.G251R	CD1B_uc001frw.3_Intron	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	251	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.G251W(2)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGGATGTCCCCTAGCTGAGTG	0.607000														42			21		0	0	0.002780	0	0
C14orf133	63894	broad.mit.edu	37	14	77893965	77893965	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:77893965C>T	uc001xtt.2	-	20	1893	c.1476G>A	c.(1474-1476)aaG>aaA	p.K492K	C14orf133_uc001xtu.2_Silent_p.K492K|C14orf133_uc001xtv.2_Silent_p.K492K|C14orf133_uc021rwu.1_Silent_p.K492K|C14orf133_uc010tvj.2_Silent_p.K443K	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	492					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding							Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCACTTAATTCTTCCATCGAA	0.453000														10			13		0	0	0.003163	0	0
ZNF248	57209	broad.mit.edu	37	10	38121310	38121311	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:38121310_38121311GG>AA	uc001izd.1	-	5	1471_1472	c.972_973CC>TT	c.(970-975)ctccgt>ctTTgt	p.R325C	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.R325C	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTATATTCACGGAGAATCTTTC	0.356000														38			20		0	0	0.004672	0	0
POTEM	641455	broad.mit.edu	37	14	20019959	20019959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr14:20019959C>T	uc001vwc.3	-	0	314	c.262G>A	c.(262-264)Gac>Aac	p.D88N	POTEM_uc001vwb.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	88								p.D88D(1)		endometrium(4)|kidney(1)|lung(4)	9						ATAGCAGAGTCGTCGTGGTCT	0.627000														287			20		0	0	0.007291	0	0
SORBS2	8470	broad.mit.edu	37	4	186544450	186544450	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:186544450C>T	uc003iyg.3	-	12	2495	c.2463G>A	c.(2461-2463)cgG>cgA	p.R821R	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.R807R|SORBS2_uc003iyl.3_Silent_p.R707R|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.R611R|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	707						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TTTTTTTCCTCCGGAAAGGCA	0.468000														90			46		0	0	0.003610	0	0
AGMO	392636	broad.mit.edu	37	7	15470631	15470631	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:15470631C>T	uc003stb.1	-	4	683	c.513_splice	c.e4+1	p.W171_splice		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.	171					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ACAACTTACCCAGGAAGTATA	0.338000														29			10		0	0	0.000673	0	0
TTN	7273	broad.mit.edu	37	2	179634502	179634502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	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														110			49		0	0	0.003610	0	0
ERMN	57471	broad.mit.edu	37	2	158178034	158178034	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:158178034G>A	uc002tzi.3	-	3	798	c.643C>T	c.(643-645)Cga>Tga	p.R215*	ERMN_uc010zcj.2_Nonsense_Mutation_p.R96*|ERMN_uc002tzh.3_Nonsense_Mutation_p.R202*|ERMN_uc010zck.2_Nonsense_Mutation_p.R182*	NM_001009959	NP_065762	Q8TAM6	ERMIN_HUMAN	Homo sapiens ermin, ERM-like protein (ERMN), transcript variant 1, mRNA.	202						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCTATCACTCGAACTtcatct	0.383000														52			29		0	0	0.006320	0	0
MCHR1	2847	broad.mit.edu	37	22	41077071	41077071	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:41077071G>A	uc003ayz.3	+	1	676	c.408G>A	c.(406-408)aaG>aaA	p.K136K	MCHR1_uc003aza.3_Silent_p.K25K	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	136					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CGGTCGTGAAGAAGTCCAAGC	0.542000														41			23		0	0	0.003330	0	0
KALRN	8997	broad.mit.edu	37	3	124385441	124385441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:124385441G>A	uc003ehg.3	+	45	6615	c.6488G>A	c.(6487-6489)gGa>gAa	p.G2163E	KALRN_uc003ehi.3_Missense_Mutation_p.G504E|KALRN_uc003ehk.3_Missense_Mutation_p.G466E|KALRN_uc011bjz.2_Missense_Mutation_p.G255E	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2162	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTCAGGAAGGGATCCCTCACC	0.532000														56			21		0	0	0.004656	0	0
KCNS1	3787	broad.mit.edu	37	20	43723761	43723761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:43723761C>T	uc002xnc.3	-	4	1728	c.1331G>A	c.(1330-1332)gGg>gAg	p.G444E	KCNS1_uc002xnd.3_Missense_Mutation_p.G444E	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 (KCNS1), mRNA.	444						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CAGGATGCCCCCTAGGATGCA	0.622000														22			17		0	0	0.004990	0	0
MAPK7	5598	broad.mit.edu	37	17	19285703	19285703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:19285703C>T	uc002gvn.3	+	4	2473	c.2087C>T	c.(2086-2088)gCc>gTc	p.A696V	MAPK7_uc002gvo.3_Missense_Mutation_p.A557V|MAPK7_uc002gvq.3_Missense_Mutation_p.A696V|MAPK7_uc002gvp.3_Missense_Mutation_p.A696V|DM110819_uc010vyt.1_5'Flank	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	696	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor 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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCCCCAGACGCCGGGGGAGCC	0.637000														15			20		0	0	0.002780	0	0
SH3BP5	9467	broad.mit.edu	37	3	15297671	15297671	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr3:15297671C>T	uc003bzp.1	-	8	1479	c.1290G>A	c.(1288-1290)cgG>cgA	p.R430R	SH3BP5_uc003bzq.1_Silent_p.R273R|SH3BP5_uc003bzr.1_Silent_p.R273R|AL133111_uc003bzo.1_Non-coding_Transcript	NM_004844	NP_001018009	O60239	3BP5_HUMAN	Homo sapiens SH3-domain binding protein 5 (BTK-associated) (SH3BP5), transcript variant 1, mRNA.	430					intracellular signal transduction	mitochondrion	SH3 domain binding|protein kinase inhibitor activity	p.R430L(1)		NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GCTGCTTCATCCGGTTCTCCA	0.552000														20			20		0	0	0.001523	0	0
GKAP1	80318	broad.mit.edu	37	9	86383826	86383826	+	Silent	SNP	A	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:86383826A>G	uc004amy.3	-	7	1141	c.645T>C	c.(643-645)gaT>gaC	p.D215D	GKAP1_uc004amz.3_Intron|GKAP1_uc011lsu.1_Non-coding_Transcript	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA.	215					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TATGAACATCATCTTCCAGTC	0.333000														26			14		0	0	0.001855	0	0
AOAH	313	broad.mit.edu	37	7	36726344	36726344	+	Silent	SNP	C	T	T	rs145856572	byFrequency	TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:36726344C>T	uc022abu.1	-	1	584	c.183G>A	c.(181-183)acG>acA	p.T61T	AOAH_uc003tfh.4_Silent_p.T61T|AOAH_uc011kba.2_Intron	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	61	Saposin B-type.				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AGGCCTGGACCGTCGAGTTGT	0.512000														25			13		0	0	0.004007	0	0
ZMYM6	9204	broad.mit.edu	37	1	35477575	35477576	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:35477575_35477576GG>AA	uc001byh.3	-	7	1205_1206	c.977_978CC>TT	c.(976-978)acc>aTT	p.T326I	ZMYM6_uc001byf.1_Missense_Mutation_p.T326I|ZMYM6_uc010oht.2_Missense_Mutation_p.T229I|ZMYM6_uc009vup.3_Missense_Mutation_p.T132I|ZMYM6_uc009vuq.1_Missense_Mutation_p.T326I|ZMYM6_uc009vur.1_Missense_Mutation_p.T132I	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	326					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGATTGCTGAGGTTTTACAACT	0.376000														30			7		0	0	0.004672	0	0
CYP2C8	1558	broad.mit.edu	37	10	96802811	96802811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:96802811G>A	uc001kkb.3	-	6	1080	c.985C>T	c.(985-987)Cat>Tat	p.H329Y	CYP2C8_uc010qoa.2_Missense_Mutation_p.H259Y|CYP2C8_uc010qoc.2_Missense_Mutation_p.H227Y|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.H243Y|CYP2C8_uc021pwl.1_Missense_Mutation_p.H259Y|CYP2C8_uc010qod.1_Missense_Mutation_p.H243Y	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	329					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCAATTACATGATCAATCTCT	0.443000														34			9		0	0	0.000673	0	0
TOM1	10043	broad.mit.edu	37	22	35742938	35742938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr22:35742938G>A	uc003ann.3	+	13	1425	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	TOM1_uc011ami.2_Missense_Mutation_p.E401K|TOM1_uc003anp.3_Missense_Mutation_p.E434K|TOM1_uc011aml.2_Missense_Mutation_p.E389K|TOM1_uc011amk.2_Missense_Mutation_p.E396K|TOM1_uc003ano.3_Non-coding_Transcript|TOM1_uc011amj.2_Missense_Mutation_p.E277K	NM_005488	NP_005479	O60784	TOM1_HUMAN	Homo sapiens target of myb1 (chicken) (TOM1), transcript variant 1, mRNA.	434					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TGATGCGGAAGAGCCTAAGGG	0.667000														43			13		0	0	0.004990	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177111	70177111	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:70177111C>T	uc010moc.3	-	0	1705	c.873G>A	c.(871-873)gcG>gcA	p.A291A		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	291					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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(5)|lung(2)	7						GTGCCGGGGTCGCCAGGTCCG	0.667000														77			12		0	0	0.004656	0	0
CPNE1	8904	broad.mit.edu	37	20	34220449	34220449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:34220449G>A	uc010zvj.2	-	2	681	c.314C>T	c.(313-315)tCc>tTc	p.S105F	CPNE1_uc002xde.3_Missense_Mutation_p.S100F|CPNE1_uc002xdf.3_Missense_Mutation_p.S100F|CPNE1_uc002xdi.3_Missense_Mutation_p.S100F|CPNE1_uc002xdj.3_Missense_Mutation_p.S100F|CPNE1_uc002xdl.3_Missense_Mutation_p.S100F|CPNE1_uc002xdm.3_Missense_Mutation_p.S100F|CPNE1_uc010gfk.2_Missense_Mutation_p.S100F|CPNE1_uc002xdn.1_Non-coding_Transcript|CPNE1_uc002xdo.1_Non-coding_Transcript|CPNE1_uc002xdp.1_Non-coding_Transcript	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	100					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTGTCCTAGGGAACACTCAGC	0.537000														56			26		0	0	0.002096	0	0
HSPA6	3310	broad.mit.edu	37	1	161495847	161495847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:161495847C>T	uc001gaq.3	+	0	1812	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	467					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAGTGGCATCCCTCCTGCCCC	0.567000														31			26		0	0	0.005443	0	0
KCNK1	3775	broad.mit.edu	37	1	233802523	233802523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:233802523G>A	uc010pxo.1	+	1	706	c.538G>A	c.(538-540)Gcc>Acc	p.A180T		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	180						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)	GCAGGTGGTGGCCATCGTCCA	0.607000														16			19		0	0	0.001882	0	0
KCNH6	81033	broad.mit.edu	37	17	61600840	61600840	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:61600840C>T	uc002jay.3	+	0	146	c.66C>T	c.(64-66)ttC>ttT	p.F22F	KCNH6_uc002jax.1_Silent_p.F22F|KCNH6_uc010wpl.2_5'UTR|KCNH6_uc010wpm.2_Silent_p.F22F|KCNH6_uc002jaz.1_Silent_p.F22F	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	22					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TCCGCAAGTTCGAGGGCCAAA	0.632000														26			8		0	0	0.004482	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450194	105450194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:105450194G>A	uc022cca.1	+	0	769	c.769G>A	c.(769-771)Gag>Aag	p.E257K	MUM1L1_uc004emg.2_Missense_Mutation_p.E257K|MUM1L1_uc004emf.2_Missense_Mutation_p.E257K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	257										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTTGAAAGAAGAGAGCGAGGA	0.453000														4			8		0	0	0.003080	0	0
FAM5B	57795	broad.mit.edu	37	1	177226424	177226424	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:177226424G>A	uc001glf.3	+	3	885	c.573G>A	c.(571-573)ctG>ctA	p.L191L	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_Silent_p.L86L	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	191						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTGTGTCCCTGGAGACCCTGC	0.562000														31			8		0	0	0.004482	0	0
OAT	4942	broad.mit.edu	37	10	126097393	126097393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:126097393G>A	uc001lhp.3	-	2	474	c.341C>T	c.(340-342)gCt>gTt	p.A114V	OAT_uc001lhr.3_5'UTR|OAT_uc001lhq.3_Non-coding_Transcript	NM_000274	NP_001165285	P04181	OAT_HUMAN	Homo sapiens ornithine aminotransferase (OAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	114					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	ATTATAGAAAGCTCTAGATGT	0.368000														19			15		0	0	0.003163	0	0
MYH8	4626	broad.mit.edu	37	17	10309360	10309360	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr17:10309360C>T	uc002gmm.2	-	20	2525	c.2430G>A	c.(2428-2430)agG>agA	p.R810R	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	810	IQ.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTGTTACCTCCTTTGCAACA	0.343000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					19			21		0	0	0.003330	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	313522	313522	+	RNA	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrGL000192.1:313522G>A	uc010yij.1	-	5		c.724C>T			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGTATTATTGAGGGAACATA	0.453000														22			13		0	0	0.004007	0	0
CEP78	84131	broad.mit.edu	37	9	80881427	80881427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:80881427C>T	uc004aky.4	+	15	2194	c.1918C>T	c.(1918-1920)Cca>Tca	p.P640S	CEP78_uc004akx.2_Missense_Mutation_p.P623S|CEP78_uc010mpp.3_Missense_Mutation_p.P624S|CEP78_uc004akz.1_Missense_Mutation_p.P111S	NM_001098802	NP_001092272	Q5JTW2	CEP78_HUMAN	Homo sapiens centrosomal protein 78kDa (CEP78), transcript variant 1, mRNA.	623					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AGTTTCTACTCCAGAGGGCTT	0.438000														36			18		0	0	0.001523	0	0
SPON1	10418	broad.mit.edu	37	11	14284296	14284296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:14284296G>A	uc001mle.3	+	15	2300	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	679	TSP type-1 5.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CCAGTGGTCGGAATGTAACAA	0.532000														10			12		0	0	0.001368	0	0
MS4A2	2206	broad.mit.edu	37	11	59861437	59861437	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:59861437G>A	uc001nop.3	+	6	640	c.538_splice	c.e6-1	p.E180_splice	MS4A2_uc009ymu.3_3'UTR|MS4A2_uc021qka.1_Splice_Site_p.E135_splice	NM_000139	NP_000130	Q01362	FCERB_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA.	180					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TGTTCAATAGGAAATTGTAGT	0.413000														23			7		0	0	0.004482	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221261	118221261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:118221261G>A	uc004era.4	-	10	3932	c.3932C>T	c.(3931-3933)tCc>tTc	p.S1311F		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1311										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGAAACAGGGGAGACTTTTTG	0.493000														34			59		0	0	0.003610	0	0
PAPPA	5069	broad.mit.edu	37	9	118982379	118982379	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:118982379C>T	uc004bjn.3	+	4	2463	c.2082C>T	c.(2080-2082)ttC>ttT	p.F694F	PAPPA_uc011lxp.1_Silent_p.F389F|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	694					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.W693*(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGGAGTGGTTCCCACCTATAG	0.557000														59			24		0	0	0.003954	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948008	119948008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:119948008C>T	uc010inb.3	+	2	680	c.484C>T	c.(484-486)Ccg>Tcg	p.P162S	SYNPO2_uc010ina.3_Missense_Mutation_p.P162S|SYNPO2_uc003icm.4_Missense_Mutation_p.P162S|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.P90S	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	162						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGAAACAGGCCCGAGCTACCA	0.552000														16			8		0	0	0.003080	0	0
LOC646214	646214	broad.mit.edu	37	15	21937970	21937970	+	RNA	SNP	T	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:21937970T>A	uc010tzj.1	-	0		c.2770A>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		ATGGAGATGATTTTATGCCTG	0.438000														352			30		0	0	0.003755	0	0
ERCC6	2074	broad.mit.edu	37	10	50691556	50691556	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:50691556G>A	uc001jhs.4	-	8	1982	c.1828C>T	c.(1828-1830)Cta>Tta	p.L610L	ERCC6_uc010qgr.2_5'UTR|ERCC6_uc001jhr.4_Silent_p.L10L	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	610	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCTCGAATTAGTTTCTCCTGA	0.353000								Direct reversal of damage;Nucleotide excision repair (NER)						33			16		0	0	0.004990	0	0
FAT3	120114	broad.mit.edu	37	11	92531158	92531158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr11:92531158C>T	uc001pdj.4	+	8	4996	c.4979C>T	c.(4978-4980)tCc>tTc	p.S1660F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1660	Cadherin 15.				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)				GTGCGCATTTCCGTCACCATG	0.438000										TCGA Ovarian(4;0.039)				274			126		0	0	0.003610	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536519	90536519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:90536519G>A	uc010mqi.3	+	3	1726	c.1697G>A	c.(1696-1698)gGa>gAa	p.G566E	FAM75C1_uc004apq.4_Missense_Mutation_p.G549E	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		AGTGACTCAGGAAGTGATTTA	0.517000														64			37		0	0	0.001951	0	0
NFATC2	4773	broad.mit.edu	37	20	50048876	50048876	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:50048876T>C	uc002xwd.3	-	8	2670	c.2450A>G	c.(2449-2451)aAc>aGc	p.N817S	NFATC2_uc002xwc.3_Missense_Mutation_p.N817S|NFATC2_uc010zyv.2_Missense_Mutation_p.N598S|NFATC2_uc010zyw.2_Missense_Mutation_p.N598S|NFATC2_uc002xwe.3_Missense_Mutation_p.N797S|NFATC2_uc010zyx.2_Missense_Mutation_p.N797S|NFATC2_uc010zyy.2_Missense_Mutation_p.N598S|NFATC2_uc010zyz.2_Missense_Mutation_p.N598S	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	817					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CAGCTGCTGGTTGGTGGGTGA	0.657000														43			28		0	0	0.002445	0	0
PLIN1	5346	broad.mit.edu	37	15	90213326	90213326	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:90213326C>T	uc010upx.1	-	4	593	c.483G>A	c.(481-483)gcG>gcA	p.A161A	PLIN1_uc002boh.2_Silent_p.A161A	NM_001145311	NP_002657	O60240	PLIN1_HUMAN	Homo sapiens perilipin 1 (PLIN1), transcript variant 2, mRNA.	161					triglyceride catabolic process	lipid particle	lipid binding	p.A161V(1)|p.T160N(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						CAGCAAATTCCGCAGTGTCTC	0.632000														10			9		0	0	0.001368	0	0
ACSL1	2180	broad.mit.edu	37	4	185687120	185687120	+	Silent	SNP	G	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr4:185687120G>T	uc003iww.2	-	13	1578	c.1284C>A	c.(1282-1284)gtC>gtA	p.V428V	ACSL1_uc011ckm.1_Silent_p.V257V|ACSL1_uc003iwt.1_Silent_p.V428V|ACSL1_uc003iwu.1_Silent_p.V428V|ACSL1_uc011ckn.1_Silent_p.V394V|ACSL1_uc003iws.1_5'UTR	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	428					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCATCAGCCGGACTCTTCCGC	0.652000														31			13		2.32078e-09	2.89683e-09	0.003163	1	0
HERPUD1	9709	broad.mit.edu	37	16	56976092	56976092	+	Silent	SNP	C	T	T	rs34040285		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:56976092C>T	uc002eke.1	+	6	1363	c.954C>T	c.(952-954)ttC>ttT	p.F318F	HERPUD1_uc002ekf.1_Silent_p.F317F|HERPUD1_uc002ekg.1_Silent_p.F293F|HERPUD1_uc010cco.1_Missense_Mutation_p.S327F|HERPUD1_uc010ccp.1_Silent_p.F220F|HERPUD1_uc002ekh.1_Silent_p.F136F	NM_014685	NP_055500	Q15011	HERP1_HUMAN	Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.	318						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TTCAGAACTTCCCAAATGATG	0.488000			T	ERG	prostate									67			38		0	0	0.002222	0	0
MYOZ1	58529	broad.mit.edu	37	10	75391751	75391751	+	Silent	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:75391751C>T	uc001jur.3	-	5	1202	c.837G>A	c.(835-837)ggG>ggA	p.G279G		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	Homo sapiens myozenin 1 (MYOZ1), mRNA.	279					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CTACAGGCTCCCCAGAGCTCA	0.532000														23			9		0	0	0.006214	0	0
KCNMA1	3778	broad.mit.edu	37	10	78850220	78850220	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:78850220G>A	uc001jxn.3	-	9	1449	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	KCNMA1_uc021ptu.1_Silent_p.F370F|KCNMA1_uc001jxj.2_Silent_p.F424F|KCNMA1_uc001jxk.1_Silent_p.F39F|KCNMA1_uc009xrt.1_Silent_p.F244F|KCNMA1_uc001jxl.1_Silent_p.F78F|KCNMA1_uc001jxo.3_Silent_p.F424F|KCNMA1_uc001jxm.3_Silent_p.F424F|KCNMA1_uc001jxq.3_Silent_p.F424F	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	424	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGTCCTTCAGGAAGTTGGAAA	0.532000														53			23		0	0	0.006320	0	0
CYP3A7	1551	broad.mit.edu	37	7	99264624	99264624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:99264624C>T	uc003urq.3	-	4	485	c.383G>A	c.(382-384)aGa>aAa	p.R128K	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Missense_Mutation_p.R15K|CYP3A7_uc011kiy.2_Missense_Mutation_p.R118K|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	128					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TGACCGTATTCTCTTCCATTC	0.388000														30			19		0	0	0.001882	0	0
AMPH	273	broad.mit.edu	37	7	38431555	38431555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr7:38431555C>T	uc003tgu.3	-	18	1888	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	AMPH_uc003tgv.3_Missense_Mutation_p.E516K|AMPH_uc003tgt.3_Missense_Mutation_p.E443K|AMPH_uc003tgw.1_Missense_Mutation_p.E581K|AMPH_uc010kxl.1_Non-coding_Transcript	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	558					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.E558K(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ATAGTTATTTCGTTTTCTCCT	0.597000														26			11		0	0	0.000978	0	0
AVPR1B	553	broad.mit.edu	37	1	206224448	206224448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:206224448C>T	uc001hds.2	+	0	166	c.8C>T	c.(7-9)tCt>tTt	p.S3F		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	3					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTCATGGATTCTGGGCCTCTG	0.612000														146			73		0	0	0.003610	0	0
IL15RA	3601	broad.mit.edu	37	10	6005800	6005800	+	Silent	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr10:6005800G>A	uc021pmo.1	-	3	560	c.546C>T	c.(544-546)gaC>gaT	p.D182D	IL15RA_uc010qau.2_Intron|IL15RA_uc021pmp.1_Intron|IL15RA_uc001iiv.3_Silent_p.D96D|IL15RA_uc001iiw.3_Silent_p.D60D|IL15RA_uc001iiy.3_Intron	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN	Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.	96			N -> T (in dbSNP:rs2228059).		cell proliferation	Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCAGGGCAGGGTCTCCTAGAG	0.537000														8			11		0	0	0.000978	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994681	140994681	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chrX:140994681T>G	uc004fbt.3	+	3	1815	c.1491T>G	c.(1489-1491)agT>agG	p.S497R	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S156R	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	497							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTCCAGAGTTCCCCTGAGT	0.498000										HNSCC(15;0.026)				27			58		0	0	0.003610	0	0
ETAA1	54465	broad.mit.edu	37	2	67630890	67630890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:67630890C>T	uc002sdz.1	+	4	1215	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	359						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TGTGTGACTTCCTGTACTAAG	0.353000														36			14		0	0	0.003163	0	0
SLC6A17	388662	broad.mit.edu	37	1	110738249	110738249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr1:110738249G>A	uc009wfq.3	+	9	1995	c.1534G>A	c.(1534-1536)Gtc>Atc	p.V512I		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	512					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.F511_R514del(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GCTGTTGTTCGTCCAGCGCTC	0.602000														31			17		0	0	0.004990	0	0
GABRP	2568	broad.mit.edu	37	5	170215659	170215659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr5:170215659C>T	uc003mau.3	+	1	238	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F	GABRP_uc011dev.2_Missense_Mutation_p.L14F	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	14						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)			GTGTCTGAGTCTCTTCACTGA	0.557000														19			18		0	0	0.001882	0	0
FAM117B	150864	broad.mit.edu	37	2	203620370	203620370	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr2:203620370delT	uc010zhx.2	+	4	1080	c.1070delT	c.(1069-1071)attfs	p.I357fs		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	357										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GAAATAATAATTAAAGAGACT	0.368													---	156	---	---	76	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:43844265delG	uc004ada.2	+	9	2009	c.1599delG	c.(1597-1599)gcgfs	p.A533fs	CNTNAP3B_uc004acz.2_Intron	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													---	3	---	---	3	---					
PBX3	5090	broad.mit.edu	37	9	128692021	128692022	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr9:128692021_128692022delAT	uc004bqb.3	+	3	720_721	c.604_605delAT	c.(604-606)atgfs	p.M202fs	PBX3_uc004bqc.3_Frame_Shift_Del_p.M21fs|PBX3_uc004bqd.3_Frame_Shift_Del_p.M21fs|PBX3_uc011lzw.2_Frame_Shift_Del_p.M127fs|PBX3_uc011lzx.2_Frame_Shift_Del_p.M113fs|PBX3_uc004bqe.3_Frame_Shift_Del_p.M89fs	NM_006195	NP_001128250	P40426	PBX3_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 3 (PBX3), transcript variant 1, mRNA.	202					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GATTGAAAGAATGGTGGGCATC	0.396													---	40	---	---	28	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	C	C	rs36063533		TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:7080212_7080213insC	uc001qsh.4	+	1	269	c.126_splice	c.e1+1	p.S42_splice	PHB2_uc021quf.1_5'Flank|PHB2_uc021qug.1_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Non-coding_Transcript	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	42					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													---	8	---	---	4	---					
STAB2	55576	broad.mit.edu	37	12	104031013	104031013	+	Splice_Site	DEL	C	-	-			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr12:104031013delC	uc001tjw.3	+	7	895	c.709_splice	c.e7+1	p.P237_splice		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	237	EGF-like 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						AATACTGCGACCGTGAGTAGA	0.388													---	34	---	---	16	---					
MAP1A	4130	broad.mit.edu	37	15	43817125	43817130	+	In_Frame_Del	DEL	TCCCTC	-	-			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr15:43817125_43817130delTCCCTC	uc001zrt.3	+	3	3921_3926	c.3454_3459delTCCCTC	c.(3454-3459)tccctcdel	p.SL1152del		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1152						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGATGCAGAATCCCTCTCTGTCCTCA	0.553													---	36	---	---	11	---					
CDYL2	124359	broad.mit.edu	37	16	80638416	80638416	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr16:80638416delG	uc002ffs.3	-	6	1495	c.1390delC	c.(1390-1392)cggfs	p.R464fs		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	464						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AGGAAGCTCCGCACGAGGCAT	0.547													---	84	---	---	58	---					
ZNF714	148206	broad.mit.edu	37	19	21300286	21300286	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr19:21300286delT	uc002npo.4	+	4	1194	c.816delT	c.(814-816)actfs	p.T272fs	ZNF714_uc002npl.3_Frame_Shift_Del_p.T118fs|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	Homo sapiens zinc finger protein 714 (ZNF714), mRNA.	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CAGCCCTTACTACACATAAGT	0.348													---	4	---	---	2	---					
SAMHD1	25939	broad.mit.edu	37	20	35555605	35555612	+	Frame_Shift_Del	DEL	GAGCAAGT	-	-			TCGA-EE-A29V-06A-12D-A197-08	TCGA-EE-A29V-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f14401f0-c522-4c0b-b496-bf696e643db7	fb4fbd0e-f121-41ab-9139-0f9b1ca23682	g.chr20:35555605_35555612delGAGCAAGT	uc002xgh.2	-	5	869_876	c.669_676delACTTGCTC	c.(667-678)ccacttgctcgcfs	p.P223fs		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	223	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	p.R226H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ACCTCCGGGCGAGCAAGTGGAATAAATC	0.351													---	64	---	---	7	---					
